#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
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	105	0	0	0	1	0	5	105				
RCBTB1	55213	broad.mit.edu	37	13	50123697	50123697	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr13:50123697C>T	ENST00000378302.2	-	9	1202	c.942G>A	c.(940-942)cgG>cgA	p.R314R	RCBTB1_ENST00000546015.1_Silent_p.R314R|RCBTB1_ENST00000258646.3_Silent_p.R314R	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	314					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CGGACTGACCCCGGCACTGGC	0.617																																						ENST00000378302.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(940-942)cgG>cgA		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1							91.0	70.0	77.0					13																	50123697		2203	4298	6501	SO:0001819	synonymous_variant	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50123697C>T	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.942G>A	13.37:g.50123697C>T						RCBTB1_ENST00000258646.3_Silent_p.R314R|RCBTB1_ENST00000546015.1_Silent_p.R314R	p.R314R	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	9	1202	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	314					Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	37	c.942G>A	CCDS9418.1																																																																																				0.617	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		9	49	0	0	0	1	0	9	49				
WASH6P	653440	broad.mit.edu	37	X	155255094	155255094	+	RNA	SNP	T	T	C			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:155255094T>C	ENST00000461007.1	+	0	4010				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TGCTCTGACATGGACACAGCC	0.617																																						ENST00000285718.7																			0																																																			0							g.chrX:155255094T>C	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255094T>C						WASH6P_ENST00000461007.1_RNA								0	1399	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.617	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	12	0	0	0	1	0	4	12				
KRT40	125115	broad.mit.edu	37	17	39135153	39135153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:39135153G>A	ENST00000398486.2	-	8	1259	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	KRT40_ENST00000377755.4_Nonsense_Mutation_p.R367*|AC004231.2_ENST00000418393.1_RNA	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	367	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TGGTTCTGTCGCTCCAGGTCG	0.617																																						ENST00000377755.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(1099-1101)Cga>Tga		keratin 40							94.0	103.0	100.0					17																	39135153		2203	4295	6498	SO:0001587	stop_gained	125115					intermediate filament	structural molecule activity	g.chr17:39135153G>A	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.1099C>T	17.37:g.39135153G>A	ENSP00000381500:p.Arg367*					KRT40_ENST00000398486.2_Nonsense_Mutation_p.R367*	p.R367*			Q6A162	K1C40_HUMAN			6	1133	-		Breast(137;0.00043)	367			Coil 2.|Rod.		Q6IFU5	Nonsense_Mutation	SNP	ENST00000398486.2	37	c.1099C>T	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	G	35	5.481649	0.96307	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	.	.	.	5.56	3.49	0.39957	.	0.000000	0.31312	N	0.007880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9798	0.47488	0.0:0.125:0.6161:0.2589	.	.	.	.	X	367	.	ENSP00000366984:R367X	R	-	1	2	KRT40	36388679	0.402000	0.25311	1.000000	0.80357	0.987000	0.75469	0.513000	0.22770	0.765000	0.33221	0.655000	0.94253	CGA		0.617	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		4	130	0	0	0	1	0	4	130				
NUP93	9688	broad.mit.edu	37	16	56792500	56792500	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr16:56792500G>T	ENST00000308159.5	+	3	351	c.230G>T	c.(229-231)cGa>cTa	p.R77L	NUP93_ENST00000569842.1_Missense_Mutation_p.R77L	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	77					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)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ATCTCCCAGCGATTGGAGAGT	0.507																																					Colon(33;610 796 1305 1705 38917)	ENST00000569842.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(229-231)cGa>cTa		nucleoporin 93kDa							107.0	93.0	98.0					16																	56792500		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56792500G>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.230G>T	16.37:g.56792500G>T	ENSP00000310668:p.Arg77Leu					NUP93_ENST00000308159.5_Missense_Mutation_p.R77L	p.R77L			Q8N1F7	NUP93_HUMAN			3	326	+			77					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.230G>T	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033812	0.93575	.	.	ENSG00000102900	ENST00000308159	T	0.44482	0.92	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	L	0.48642	1.525	0.80722	D	1	P	0.41929	0.765	B	0.35278	0.199	T	0.16778	-1.0391	10	0.25751	T	0.34	-6.9594	18.679	0.91540	0.0:0.0:1.0:0.0	.	77	Q8N1F7	NUP93_HUMAN	L	77	ENSP00000310668:R77L	ENSP00000310668:R77L	R	+	2	0	NUP93	55350001	1.000000	0.71417	0.972000	0.41901	0.986000	0.74619	9.452000	0.97615	2.401000	0.81631	0.555000	0.69702	CGA		0.507	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		15	57	1	0	6.72482e-11	1	7.33617e-11	15	57				
PLCXD2	257068	broad.mit.edu	37	3	111394231	111394231	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr3:111394231C>T	ENST00000477665.1	+	1	463	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	PLCXD2_ENST00000393934.3_Missense_Mutation_p.P47S|PLCXD2-AS1_ENST00000493131.1_RNA	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	47	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCACAACCTCCCCCTTTCCAA	0.537																																						ENST00000393934.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						c.(139-141)Ccc>Tcc		phosphatidylinositol-specific phospholipase C, X domain containing 2							159.0	148.0	152.0					3																	111394231		2203	4300	6503	SO:0001583	missense	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111394231C>T	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.139C>T	3.37:g.111394231C>T	ENSP00000420686:p.Pro47Ser					PLCXD2_ENST00000477665.1_Missense_Mutation_p.P47S	p.P47S	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN			1	709	+			47			PI-PLC X-box.		Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.139C>T	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441835	0.63067	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (1);	.	.	.	.	T	0.70055	0.3180	M	0.71581	2.175	0.45962	D	0.998788	P;P	0.39404	0.672;0.621	P;B	0.48114	0.567;0.334	T	0.69209	-0.5205	8	0.41790	T	0.15	-18.5369	14.4712	0.67517	0.0:1.0:0.0:0.0	.	47;47	Q0VAA5;Q0VAA5-2	PLCX2_HUMAN;.	S	47	.	ENSP00000377511:P47S	P	+	1	0	PLCXD2	112876921	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.560000	0.53763	2.783000	0.95769	0.655000	0.94253	CCC		0.537	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		18	75	0	0	0	1	0	18	75				
SP140	11262	broad.mit.edu	37	2	231150512	231150512	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:231150512C>T	ENST00000392045.3	+	17	1724	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	SP140_ENST00000486687.2_Missense_Mutation_p.A461V|SP140_ENST00000350136.5_Missense_Mutation_p.A406V|SP140_ENST00000417495.3_Missense_Mutation_p.A423V|SP140_ENST00000343805.6_Missense_Mutation_p.A477V|SP140_ENST00000420434.3_Missense_Mutation_p.A510V	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	537					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAAAGAAGGCGAACGTGAAT	0.448																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(1609-1611)gCg>gTg		SP140 nuclear body protein							161.0	161.0	161.0					2																	231150512		1867	4100	5967	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231150512C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1610C>T	2.37:g.231150512C>T	ENSP00000375899:p.Ala537Val					SP140_ENST00000486687.2_Missense_Mutation_p.A461V|SP140_ENST00000420434.3_Missense_Mutation_p.A510V|SP140_ENST00000417495.3_Missense_Mutation_p.A423V|SP140_ENST00000343805.6_Missense_Mutation_p.A477V|SP140_ENST00000350136.5_Missense_Mutation_p.A406V	p.A537V	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	17	1724	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	537					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.1610C>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.381932	0.01204	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.57752	0.54;0.75;0.65;0.38;0.64	1.58	0.336	0.15958	.	.	.	.	.	T	0.32585	0.0834	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.15719	0.009;0.003;0.014;0.0	B;B;B;B	0.10450	0.001;0.001;0.005;0.0	T	0.19257	-1.0311	9	0.20046	T	0.44	-1.5964	3.2177	0.06705	0.0:0.2801:0.0:0.7199	.	510;423;477;537	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	V	461;406;537;423;477;510	ENSP00000440107:A461V;ENSP00000345846:A406V;ENSP00000375899:A537V;ENSP00000342096:A477V;ENSP00000398210:A510V	ENSP00000342096:A477V	A	+	2	0	SP140	230858756	0.000000	0.05858	0.010000	0.14722	0.105000	0.19272	-1.820000	0.01714	0.093000	0.17368	0.306000	0.20318	GCG		0.448	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		17	115	0	0	0	1	0	17	115				
KDELR2	11014	broad.mit.edu	37	7	6505884	6505884	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr7:6505884G>A	ENST00000258739.4	-	4	606	c.422C>T	c.(421-423)aCt>aTt	p.T141I	KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000490996.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	141					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GGCCTCCCCAGTCTTGCTGAT	0.527																																						ENST00000258739.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(421-423)aCt>aTt		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2							114.0	100.0	105.0					7																	6505884		2203	4300	6503	SO:0001583	missense	0				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity	g.chr7:6505884G>A	X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.422C>T	7.37:g.6505884G>A	ENSP00000258739:p.Thr141Ile					KDELR2_ENST00000490996.1_Intron|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron	p.T141I	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	4	606	-		Ovarian(82;0.0776)	141					A4D2P4|Q6IPC5|Q96E30	Missense_Mutation	SNP	ENST00000258739.4	37	c.422C>T	CCDS5351.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865091	0.91511	.	.	ENSG00000136240	ENST00000258739	T	0.49720	0.77	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78612	-0.2136	10	0.52906	T	0.07	-10.6534	19.0552	0.93062	0.0:0.0:1.0:0.0	.	141	P33947	ERD22_HUMAN	I	141	ENSP00000258739:T141I	ENSP00000258739:T141I	T	-	2	0	KDELR2	6472409	1.000000	0.71417	0.955000	0.39395	0.974000	0.67602	9.705000	0.98719	2.578000	0.87016	0.460000	0.39030	ACT		0.527	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2			17	69	0	0	0	1	0	17	69				
CDH18	1016	broad.mit.edu	37	5	19747223	19747223	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:19747223G>T	ENST00000507958.1	-	6	1341	c.351C>A	c.(349-351)gaC>gaA	p.D117E	CDH18_ENST00000506372.1_Missense_Mutation_p.D117E|CDH18_ENST00000382275.1_Missense_Mutation_p.D117E|CDH18_ENST00000502796.1_Missense_Mutation_p.D117E|CDH18_ENST00000274170.4_Missense_Mutation_p.D117E|CDH18_ENST00000511273.1_Missense_Mutation_p.D117E			Q13634	CAD18_HUMAN	cadherin 18, type 2	117	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D117E(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTGCTCTCTGTCTAGGCTTT	0.443																																						ENST00000507958.1																			2	Substitution - Missense(2)	p.D117E(2)	lung(2)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(349-351)gaC>gaA		cadherin 18, type 2							246.0	219.0	228.0					5																	19747223		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747223G>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.351C>A	5.37:g.19747223G>T	ENSP00000425093:p.Asp117Glu					CDH18_ENST00000511273.1_Missense_Mutation_p.D117E|CDH18_ENST00000506372.1_Missense_Mutation_p.D117E|CDH18_ENST00000502796.1_Missense_Mutation_p.D117E|CDH18_ENST00000274170.4_Missense_Mutation_p.D117E|CDH18_ENST00000382275.1_Missense_Mutation_p.D117E	p.D117E			Q13634	CAD18_HUMAN			6	1341	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		117			Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.351C>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590921	0.66219	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.23	3.17	0.36434	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	H	0.99391	4.545	0.40666	D	0.982179	D;D	0.69078	0.995;0.997	D;D	0.91635	0.999;0.999	D	0.86231	0.1637	9	.	.	.	.	6.7328	0.23393	0.3037:0.0:0.6963:0.0	.	117;117	B4DHG6;Q13634	.;CAD18_HUMAN	E	117;117;117;117;117;117;63;117	ENSP00000371710:D117E;ENSP00000425093:D117E;ENSP00000274170:D117E;ENSP00000424931:D117E;ENSP00000422138:D117E;ENSP00000427383:D63E;ENSP00000425854:D117E	.	D	-	3	2	CDH18	19782980	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.531000	0.36018	1.210000	0.43336	-0.218000	0.12543	GAC		0.443	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		25	71	1	0	1.66031e-10	1	1.78802e-10	25	71				
SREBF2	6721	broad.mit.edu	37	22	42266998	42266998	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr22:42266998G>A	ENST00000361204.4	+	4	992	c.826G>A	c.(826-828)Gcc>Acc	p.A276T		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	276	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGCCCTCACCGCCCTCACCAC	0.577																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(826-828)Gcc>Acc		sterol regulatory element binding transcription factor 2							121.0	119.0	120.0					22																	42266998		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42266998G>A	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.826G>A	22.37:g.42266998G>A	ENSP00000354476:p.Ala276Thr						p.A276T	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			4	992	+			276			Interaction with LMNA (By similarity).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.826G>A	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	8.934	0.964080	0.18583	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.52754	0.65	5.49	5.49	0.81192	.	0.162453	0.56097	D	0.000026	T	0.30696	0.0773	N	0.22421	0.69	0.41565	D	0.988658	B	0.30021	0.265	B	0.14023	0.01	T	0.11792	-1.0573	10	0.27082	T	0.32	-28.2406	12.684	0.56938	0.0756:0.0:0.9244:0.0	.	276	Q12772	SRBP2_HUMAN	T	276	ENSP00000354476:A276T	ENSP00000354476:A276T	A	+	1	0	SREBF2	40596944	1.000000	0.71417	0.984000	0.44739	0.689000	0.40095	3.551000	0.53698	2.577000	0.86979	0.455000	0.32223	GCC		0.577	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		50	83	0	0	0	1	0	50	83				
EXOSC6	118460	broad.mit.edu	37	16	70287893	70287893	+	5'Flank	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr16:70287893C>T	ENST00000435634.1	-	0	0				AARS_ENST00000564359.1_5'Flank|AARS_ENST00000261772.8_Missense_Mutation_p.E817K	NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN	exosome component 6						DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TTGAGAGTCTCCCGCAATTCA	0.557											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(2449-2451)Gag>Aag		alanyl-tRNA synthetase	L-Alanine(DB00160)						117.0	113.0	114.0					16																	70287893		2198	4300	6498	SO:0001631	upstream_gene_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70287893C>T	BC052252	CCDS10887.1	16q22.1	2008-02-05			ENSG00000223496	ENSG00000223496			19055	protein-coding gene	gene with protein product	"""Mtr3 (mRNA transport regulator 3)-homolog (yeast)"""	606490				11719186, 12419256	Standard	NM_058219		Approved	MTR3, hMtr3p, Mtr3p, EAP4, p11	uc002eym.1	Q5RKV6	OTTHUMG00000137578		16.37:g.70287893C>T	Exception_encountered		OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121		p.E817K	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	18	2592	-		Ovarian(137;0.0365)	817						Missense_Mutation	SNP	ENST00000435634.1	37	c.2449G>A	CCDS10887.1	.	.	.	.	.	.	.	.	.	.	c	18.78	3.697501	0.68386	.	.	ENSG00000090861	ENST00000261772	T	0.63580	-0.05	5.53	5.53	0.82687	.	0.051569	0.85682	D	0.000000	T	0.52661	0.1748	L	0.34521	1.04	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.13407	0.009;0.004	T	0.44128	-0.9348	10	0.25106	T	0.35	-32.9919	16.9596	0.86269	0.0:1.0:0.0:0.0	.	825;817	E7ETK8;P49588	.;SYAC_HUMAN	K	817	ENSP00000261772:E817K	ENSP00000261772:E817K	E	-	1	0	AARS	68845394	1.000000	0.71417	0.977000	0.42913	0.891000	0.51852	4.751000	0.62169	2.599000	0.87857	0.655000	0.94253	GAG		0.557	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268966.1	NM_058219		28	129	0	0	0	1	0	28	129				
PROKR1	10887	broad.mit.edu	37	2	68882314	68882314	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:68882314C>T	ENST00000303786.3	+	3	1208	c.788C>T	c.(787-789)gCg>gTg	p.A263V	PROKR1_ENST00000394342.2_Missense_Mutation_p.A263V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	263					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGGTTCAAGGCGGTCCCTGGA	0.582																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(787-789)gCg>gTg		prokineticin receptor 1							60.0	59.0	59.0					2																	68882314		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882314C>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.788C>T	2.37:g.68882314C>T	ENSP00000303775:p.Ala263Val					PROKR1_ENST00000394342.2_Missense_Mutation_p.A263V	p.A263V			Q8TCW9	PKR1_HUMAN			3	1208	+			263					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.788C>T	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	7.632	0.679132	0.14907	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.38560	1.13;1.13	4.55	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.404433	0.31221	N	0.008038	T	0.21509	0.0518	N	0.12182	0.205	0.09310	N	1	B	0.21753	0.06	B	0.26202	0.067	T	0.17501	-1.0367	10	0.25106	T	0.35	.	6.9574	0.24578	0.3071:0.6081:0.0:0.0848	.	263	Q8TCW9	PKR1_HUMAN	V	263	ENSP00000303775:A263V;ENSP00000377874:A263V	ENSP00000303775:A263V	A	+	2	0	PROKR1	68735818	0.031000	0.19500	0.221000	0.23827	0.612000	0.37316	0.328000	0.19681	0.387000	0.25024	-0.251000	0.11542	GCG		0.582	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			10	38	0	0	0	1	0	10	38				
FAM129B	64855	broad.mit.edu	37	9	130285973	130285973	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr9:130285973G>A	ENST00000373312.3	-	5	787	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.R179W	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	192	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TTGCAGTGCCGGATGCAGTCC	0.587											OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(574-576)Cgg>Tgg		family with sequence similarity 129, member B							78.0	62.0	67.0					9																	130285973		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130285973G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.574C>T	9.37:g.130285973G>A	ENSP00000362409:p.Arg192Trp		OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1579	FAM129B_ENST00000373314.3_Missense_Mutation_p.R179W|FAM129B_ENST00000468379.1_Intron	p.R192W	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			5	787	-			192			PH.		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.574C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082931	0.76642	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.18174	2.23;2.23	5.24	4.33	0.51752	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	M	0.74647	2.275	0.50632	D	0.999882	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.16808	-1.0390	10	0.38643	T	0.18	-42.2982	12.6231	0.56614	0.0:0.0:0.8226:0.1774	.	179;192	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	W	179;192	ENSP00000362411:R179W;ENSP00000362409:R192W	ENSP00000362409:R192W	R	-	1	2	FAM129B	129325794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.353000	0.34045	1.165000	0.42670	0.561000	0.74099	CGG		0.587	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		7	37	0	0	0	1	0	7	37				
NLRP12	91662	broad.mit.edu	37	19	54314082	54314082	+	Silent	SNP	C	C	T	rs371391087		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr19:54314082C>T	ENST00000324134.6	-	3	999	c.831G>A	c.(829-831)gcG>gcA	p.A277A	NLRP12_ENST00000351894.4_Silent_p.A277A|NLRP12_ENST00000391773.1_Silent_p.A277A|NLRP12_ENST00000345770.5_Silent_p.A277A|NLRP12_ENST00000391775.3_Silent_p.A277A|NLRP12_ENST00000535162.1_Silent_p.A277A|NLRP12_ENST00000354278.3_Silent_p.A277A|NLRP12_ENST00000391772.1_Silent_p.A277A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	277	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCTGGAGAGGCGCGCTGGGCT	0.557																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(829-831)gcG>gcA		NLR family, pyrin domain containing 12		C		0,4406		0,0,2203	39.0	38.0	39.0		831	-4.9	0.0	19		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP12	NM_144687.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		277/1062	54314082	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314082C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.831G>A	19.37:g.54314082C>T						NLRP12_ENST00000391773.1_Silent_p.A277A|NLRP12_ENST00000391772.1_Silent_p.A277A|NLRP12_ENST00000535162.1_Silent_p.A277A|NLRP12_ENST00000351894.4_Silent_p.A277A|NLRP12_ENST00000354278.3_Silent_p.A277A|NLRP12_ENST00000391775.3_Silent_p.A277A|NLRP12_ENST00000345770.5_Silent_p.A277A	p.A277A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	999	-	Ovarian(34;0.19)		277			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.831G>A	CCDS12864.1																																																																																				0.557	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		13	44	0	0	0	1	0	13	44				
PCDHGA3	56112	broad.mit.edu	37	5	140725053	140725053	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:140725053G>A	ENST00000253812.6	+	1	1453	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	485	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAACAACGCCCGCATCAC	0.552																																						ENST00000253812.6																			0				breast(1)	1						c.(1453-1455)Gcc>Acc									90.0	100.0	97.0					5																	140725053		2106	4255	6361	SO:0001583	missense	0							g.chr5:140725053G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1453G>A	5.37:g.140725053G>A	ENSP00000253812:p.Ala485Thr					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A485T	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1453	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1453G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	14.61	2.586020	0.46110	.	.	ENSG00000254245	ENST00000253812	T	0.52295	0.67	5.36	4.48	0.54585	Cadherin (4);Cadherin-like (1);	0.000000	0.33023	U	0.005375	T	0.74688	0.3749	H	0.96996	3.92	0.26334	N	0.977471	D;D	0.56968	0.978;0.959	P;P	0.55999	0.789;0.654	T	0.75764	-0.3203	10	0.87932	D	0	.	15.4136	0.74945	0.0:0.0:0.8595:0.1405	.	485;485	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	T	485	ENSP00000253812:A485T	ENSP00000253812:A485T	A	+	1	0	PCDHGA3	140705237	0.401000	0.25303	0.474000	0.27266	0.164000	0.22412	3.226000	0.51254	1.373000	0.46208	0.563000	0.77884	GCC		0.552	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		26	84	0	0	0	1	0	26	84				
MYO3A	53904	broad.mit.edu	37	10	26377316	26377316	+	Missense_Mutation	SNP	G	G	A	rs200209381		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr10:26377316G>A	ENST00000265944.5	+	15	1710	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	MYO3A_ENST00000543632.1_Missense_Mutation_p.R515Q	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	515	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAAAATCCCGAGTTATCCAC	0.358																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(1543-1545)cGa>cAa		myosin IIIA							59.0	61.0	60.0					10																	26377316		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26377316G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1544G>A	10.37:g.26377316G>A	ENSP00000265944:p.Arg515Gln					MYO3A_ENST00000543632.1_Missense_Mutation_p.R515Q	p.R515Q	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			15	1710	+			515			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.1544G>A	CCDS7148.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	35	5.522688	0.96431	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	D;D	0.96856	-4.15;-4.15	5.78	5.78	0.91487	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	H	0.99464	4.58	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;0.996;1.0	D	0.98565	1.0643	10	0.87932	D	0	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	515;515;515	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	Q	515	ENSP00000265944:R515Q;ENSP00000445909:R515Q	ENSP00000265944:R515Q	R	+	2	0	MYO3A	26417322	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	CGA		0.358	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		11	19	0	0	0	1	0	11	19				
DNAH2	146754	broad.mit.edu	37	17	7724586	7724586	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:7724586C>T	ENST00000572933.1	+	73	12501	c.11041C>T	c.(11041-11043)Cgc>Tgc	p.R3681C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3681C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3681					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTTTCGAACGCCACAAACT	0.498																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(11041-11043)Cgc>Tgc		dynein, axonemal, heavy chain 2							172.0	151.0	158.0					17																	7724586		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7724586C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11041C>T	17.37:g.7724586C>T	ENSP00000458355:p.Arg3681Cys					DNAH2_ENST00000389173.2_Missense_Mutation_p.R3681C	p.R3681C			Q9P225	DYH2_HUMAN			73	12501	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3681					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.11041C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459796	0.43736	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.57907	0.37	4.94	4.94	0.65067	.	0.380726	0.26859	N	0.022137	T	0.51890	0.1701	L	0.58354	1.805	0.80722	D	1	B;B	0.23442	0.085;0.051	B;B	0.23275	0.045;0.02	T	0.51482	-0.8700	10	0.45353	T	0.12	.	17.3025	0.87186	0.0:1.0:0.0:0.0	.	3642;3681	Q9P225-2;Q9P225	.;DYH2_HUMAN	C	3642;3681	ENSP00000373825:R3681C	ENSP00000353818:R3642C	R	+	1	0	DNAH2	7665311	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.202000	0.32271	2.465000	0.83290	0.655000	0.94253	CGC		0.498	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		10	97	0	0	0	1	0	10	97				
TAB3	257397	broad.mit.edu	37	X	30873304	30873304	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:30873304G>T	ENST00000378933.1	-	3	655	c.478C>A	c.(478-480)Cca>Aca	p.P160T	TAB3_ENST00000378930.3_Missense_Mutation_p.P160T|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Missense_Mutation_p.P160T|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378932.2_Missense_Mutation_p.P160T	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	160	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ATGGAAGATGGCTGTTGAGGT	0.478																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(478-480)Cca>Aca		TGF-beta activated kinase 1/MAP3K7 binding protein 3							231.0	166.0	188.0					X																	30873304		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30873304G>T	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.478C>A	X.37:g.30873304G>T	ENSP00000368215:p.Pro160Thr					TAB3_ENST00000288422.2_Missense_Mutation_p.P160T|TAB3_ENST00000378930.3_Missense_Mutation_p.P160T|TAB3_ENST00000378932.2_Missense_Mutation_p.P160T	p.P160T	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	655	-			160			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.478C>A	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666777	0.47677	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.69	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000003	T	0.66684	0.2814	L	0.36672	1.1	0.43238	D	0.995142	P;P	0.50819	0.939;0.9	P;B	0.45474	0.482;0.289	T	0.67696	-0.5604	10	0.37606	T	0.19	-3.4198	17.7859	0.88538	0.0:0.0:1.0:0.0	.	160;160	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	T	160	ENSP00000368215:P160T;ENSP00000368212:P160T;ENSP00000288422:P160T;ENSP00000368214:P160T	ENSP00000288422:P160T	P	-	1	0	TAB3	30783225	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.217000	0.77982	2.219000	0.72066	0.600000	0.82982	CCA		0.478	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		33	114	1	0	2.47316e-13	1	2.73349e-13	33	114				
NANS	54187	broad.mit.edu	37	9	100843119	100843119	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr9:100843119G>T	ENST00000210444.5	+	5	695	c.625G>T	c.(625-627)Gac>Tac	p.D209Y	TRIM14_ENST00000478530.1_5'Flank|TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	209					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				GCTCTTTCCTGACATTCCCAT	0.428																																						ENST00000210444.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(625-627)Gac>Tac		N-acetylneuraminic acid synthase							69.0	72.0	71.0					9																	100843119		2203	4300	6503	SO:0001583	missense	54187				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	g.chr9:100843119G>T	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"""sialic acid synthase"""	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.625G>T	9.37:g.100843119G>T	ENSP00000210444:p.Asp209Tyr					NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	p.D209Y	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN			5	695	+		Acute lymphoblastic leukemia(62;0.0559)	209					B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	c.625G>T	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494875	0.85069	.	.	ENSG00000095380	ENST00000210444;ENST00000415280;ENST00000427646	T;T;T	0.40476	1.03;1.03;1.03	5.57	5.57	0.84162	Aldolase-type TIM barrel (1);N-acetylneuraminic acid synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.79784	0.993;0.979	T	0.70051	-0.4978	10	0.66056	D	0.02	-40.7247	17.4337	0.87545	0.0:0.0:1.0:0.0	.	45;209	E9PGK0;Q9NR45	.;SIAS_HUMAN	Y	209;68;17	ENSP00000210444:D209Y;ENSP00000404107:D68Y;ENSP00000404642:D17Y	ENSP00000210444:D209Y	D	+	1	0	NANS	99882940	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	9.441000	0.97557	2.808000	0.96608	0.650000	0.86243	GAC		0.428	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		25	75	1	0	3.6726e-16	1	4.11331e-16	25	75				
RIC8A	60626	broad.mit.edu	37	11	210610	210610	+	Missense_Mutation	SNP	C	C	T	rs374226459		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:210610C>T	ENST00000526104.1	+	4	2110	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	RIC8A_ENST00000527696.1_Missense_Mutation_p.R250W|RIC8A_ENST00000325207.5_Missense_Mutation_p.R256W			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	256					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GACCCTTCTCCGGCACTGTGT	0.577																																						ENST00000526104.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(766-768)Cgg>Tgg		RIC8 guanine nucleotide exchange factor A		C	TRP/ARG	0,4406		0,0,2203	124.0	122.0	123.0		766	4.7	1.0	11		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	RIC8A	NM_021932.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	256/538	210610	1,13005	2203	4300	6503	SO:0001583	missense	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:210610C>T	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.766C>T	11.37:g.210610C>T	ENSP00000432008:p.Arg256Trp					RIC8A_ENST00000527696.1_Missense_Mutation_p.R250W|RIC8A_ENST00000325207.5_Missense_Mutation_p.R256W	p.R256W			Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2110	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	256					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37	c.766C>T		.	.	.	.	.	.	.	.	.	.	C	16.64	3.179447	0.57800	0.0	1.16E-4	ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696	T;T;T	0.51817	0.69;0.69;0.69	4.68	4.68	0.58851	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52468	0.1736	M	0.85710	2.77	0.80722	D	1	B;B;B	0.29115	0.233;0.111;0.09	B;B;B	0.27170	0.077;0.059;0.035	T	0.60265	-0.7297	10	0.72032	D	0.01	-29.3707	12.6251	0.56626	0.1658:0.8341:0.0:0.0	.	250;256;256	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.;RIC8A_HUMAN;.	W	256;256;250	ENSP00000432008:R256W;ENSP00000325941:R256W;ENSP00000434833:R250W	ENSP00000325941:R256W	R	+	1	2	RIC8A	200610	0.977000	0.34250	0.994000	0.49952	0.791000	0.44710	0.469000	0.22067	2.538000	0.85594	0.644000	0.83932	CGG		0.577	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		26	90	0	0	0	1	0	26	90				
SNTB1	6641	broad.mit.edu	37	8	121706138	121706138	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr8:121706138C>T	ENST00000395601.3	-	3	996	c.582G>A	c.(580-582)atG>atA	p.M194I	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.M194I	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	194	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGCTTCTCGCATGTACTTCA	0.488																																						ENST00000395601.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(580-582)atG>atA		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							74.0	78.0	76.0					8																	121706138		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121706138C>T	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.582G>A	8.37:g.121706138C>T	ENSP00000378965:p.Met194Ile					SNTB1_ENST00000517992.1_Missense_Mutation_p.M194I|SNTB1_ENST00000519177.1_5'UTR	p.M194I	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		3	996	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		194			PDZ.|PH 1.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.582G>A	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632215	0.67015	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.53640	0.61;0.61	5.44	5.44	0.79542	PDZ/DHR/GLGF (3);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	N	0.25957	0.775	0.80722	D	1	B;B	0.28082	0.02;0.2	B;B	0.28465	0.023;0.09	T	0.11299	-1.0593	10	0.22109	T	0.4	.	19.443	0.94831	0.0:1.0:0.0:0.0	.	194;194	Q13884;Q13884-2	SNTB1_HUMAN;.	I	194	ENSP00000378965:M194I;ENSP00000431124:M194I	ENSP00000378965:M194I	M	-	3	0	SNTB1	121775319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.246000	0.65411	2.814000	0.96858	0.655000	0.94253	ATG		0.488	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		3	34	0	0	0	1	0	3	34				
TEKT4P2	100132288	broad.mit.edu	37	21	9907241	9907241	+	RNA	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr21:9907241C>T	ENST00000416067.1	-	0	1551					NR_037872.1|NR_038327.1				tektin 4 pseudogene 2																		AGCACCGTGCCGCTGCTCACT	0.572																																						ENST00000416067.1																			0																																																			0							g.chr21:9907241C>T			21p11.2	2012-10-03	2011-06-14	2011-06-14	ENSG00000188681	ENSG00000188681			40046	pseudogene	pseudogene			"""MAFF interacting protein-like"""	MAFIPL			Standard	NR_038327		Approved		uc021wgx.1		OTTHUMG00000172149		21.37:g.9907241C>T								NR_037872.1|NR_038327.1						0	1551	-									RNA	SNP	ENST00000416067.1	37																																																																																						0.572	TEKT4P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417115.1	NM_001033515		5	18	0	0	0	1	0	5	18				
ABLIM3	22885	broad.mit.edu	37	5	148632366	148632366	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:148632366G>A	ENST00000506113.1	+	22	2386	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	ABLIM3_ENST00000517451.1_Missense_Mutation_p.R121Q|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R540Q|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R602Q|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R524Q|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R635Q|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R524Q			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	635	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGAAACCGACTGCCCAAG	0.488																																						ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1903-1905)cGa>cAa		actin binding LIM protein family, member 3							120.0	117.0	118.0					5																	148632366		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148632366G>A	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1904G>A	5.37:g.148632366G>A	ENSP00000425394:p.Arg635Gln					ABLIM3_ENST00000517451.1_Missense_Mutation_p.R121Q|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R635Q|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R524Q|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R540Q|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R524Q|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R602Q|RP11-331K21.1_ENST00000522685.1_RNA	p.R635Q			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	2386	+			635			HP.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1904G>A	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.065982	0.55539	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.58797	0.56;0.31;0.62;0.62;0.31;0.62;0.91	4.98	3.2	0.36748	Villin headpiece (3);	0.127829	0.52532	D	0.000078	T	0.36826	0.0981	L	0.31420	0.93	0.37798	D	0.927607	B;B;B;P	0.41214	0.07;0.068;0.068;0.742	B;B;B;B	0.26094	0.025;0.012;0.012;0.066	T	0.42649	-0.9439	10	0.62326	D	0.03	.	9.8118	0.40828	0.2308:0.0:0.7692:0.0	.	121;540;524;635	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	Q	540;524;635;635;524;602;121;120	ENSP00000315841:R540Q;ENSP00000348938:R524Q;ENSP00000310309:R635Q;ENSP00000425394:R635Q;ENSP00000421183:R524Q;ENSP00000420855:R602Q;ENSP00000430150:R121Q	ENSP00000310309:R635Q	R	+	2	0	ABLIM3	148612559	0.992000	0.36948	0.941000	0.38009	0.982000	0.71751	1.874000	0.39568	0.819000	0.34492	0.650000	0.86243	CGA		0.488	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		28	110	0	0	0	1	0	28	110				
ITPR3	3710	broad.mit.edu	37	6	33643522	33643522	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr6:33643522C>T	ENST00000374316.5	+	26	4231	c.3171C>T	c.(3169-3171)cgC>cgT	p.R1057R	ITPR3_ENST00000605930.1_Silent_p.R1057R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1057					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TGTTCCTGCGCGTGCTCATCC	0.642																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(3169-3171)cgC>cgT		inositol 1,4,5-trisphosphate receptor, type 3							56.0	43.0	47.0					6																	33643522		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33643522C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.3171C>T	6.37:g.33643522C>T						ITPR3_ENST00000605930.1_Silent_p.R1057R	p.R1057R			Q14573	ITPR3_HUMAN			26	4231	+			1057					Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.3171C>T	CCDS4783.1																																																																																				0.642	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		9	27	0	0	0	1	0	9	27				
GABRD	2563	broad.mit.edu	37	1	1959653	1959653	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr1:1959653G>A	ENST00000378585.4	+	6	696	c.613G>A	c.(613-615)Ggg>Agg	p.G205R		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	205					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	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;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCACATCCACGGGCTGGACAA	0.607																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(613-615)Ggg>Agg		gamma-aminobutyric acid (GABA) A receptor, delta							90.0	67.0	75.0					1																	1959653		2202	4300	6502	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1959653G>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.613G>A	1.37:g.1959653G>A	ENSP00000367848:p.Gly205Arg						p.G205R	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	6	696	+	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;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	205					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.613G>A	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269036	0.59540	.	.	ENSG00000187730	ENST00000378585	T	0.78481	-1.18	3.58	3.58	0.41010	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.83963	0.5368	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84947	0.0869	10	0.51188	T	0.08	-15.1015	14.7342	0.69404	0.0:0.0:1.0:0.0	.	205	O14764	GBRD_HUMAN	R	205	ENSP00000367848:G205R	ENSP00000367848:G205R	G	+	1	0	GABRD	1949513	1.000000	0.71417	0.981000	0.43875	0.787000	0.44495	9.275000	0.95738	2.031000	0.59945	0.561000	0.74099	GGG		0.607	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		9	19	0	0	0	1	0	9	19				
PLCB1	23236	broad.mit.edu	37	20	8862382	8862382	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr20:8862382C>T	ENST00000338037.6	+	32	3564	c.3537C>T	c.(3535-3537)caC>caT	p.H1179H	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1179					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACAGCAATCACGGTTCTGCCC	0.493																																						ENST00000338037.6																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(3535-3537)caC>caT		phospholipase C, beta 1 (phosphoinositide-specific)							180.0	186.0	184.0					20																	8862382		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8862382C>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3537C>T	20.37:g.8862382C>T						PLCB1_ENST00000378641.3_3'UTR	p.H1179H	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN			32	3564	+			1179					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.3537C>T	CCDS13102.1																																																																																				0.493	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			49	140	0	0	0	1	0	49	140				
PGR	5241	broad.mit.edu	37	11	100998907	100998907	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:100998907T>C	ENST00000325455.5	-	1	2348	c.895A>G	c.(895-897)Acg>Gcg	p.T299A	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.T299A	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	299	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TCCATCACCGTGGTGGCCAGC	0.662																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(895-897)Acg>Gcg		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						11.0	13.0	12.0					11																	100998907		2043	4045	6088	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100998907T>C	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.895A>G	11.37:g.100998907T>C	ENSP00000325120:p.Thr299Ala					PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.T299A	p.T299A	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	2348	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	299			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.895A>G	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.917657	0.33815	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.08720	3.06;3.06	4.22	-4.17	0.03857	.	0.561966	0.14971	N	0.287838	T	0.05914	0.0154	L	0.52011	1.625	0.23834	N	0.996715	B;B	0.27264	0.001;0.173	B;B	0.23716	0.002;0.048	T	0.28902	-1.0029	10	0.44086	T	0.13	.	3.4001	0.07320	0.5066:0.2168:0.0:0.2766	.	299;299	Q8TDS3;P06401	.;PRGR_HUMAN	A	299	ENSP00000325120:T299A;ENSP00000263463:T299A	ENSP00000263463:T299A	T	-	1	0	PGR	100504117	0.067000	0.21026	0.558000	0.28319	0.772000	0.43724	-1.217000	0.02979	-0.279000	0.09167	0.459000	0.35465	ACG		0.662	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			6	17	0	0	0	1	0	6	17				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	40	0	0	0	1	0	3	40				
SNX31	169166	broad.mit.edu	37	8	101620772	101620772	+	Missense_Mutation	SNP	C	C	T	rs201556002		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr8:101620772C>T	ENST00000311812.2	-	8	781	c.631G>A	c.(631-633)Gac>Aac	p.D211N	SNX31_ENST00000428383.2_Missense_Mutation_p.D112N	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	211					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGCACGGAGTCGAGGGATGGA	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20125	0.0		0.0	False		,,,				2504	0.0					ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(631-633)Gac>Aac		sorting nexin 31							126.0	105.0	112.0					8																	101620772		2203	4300	6503	SO:0001583	missense	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101620772C>T		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.631G>A	8.37:g.101620772C>T	ENSP00000312368:p.Asp211Asn					SNX31_ENST00000428383.2_Missense_Mutation_p.D112N	p.D211N	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		8	781	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		211					C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	c.631G>A	CCDS6288.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.99	3.740209	0.69304	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.32272	1.82;1.46	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000003	T	0.62417	0.2426	M	0.86740	2.835	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.83275	0.982;0.996	T	0.66392	-0.5935	10	0.87932	D	0	-22.7038	16.3599	0.83257	0.0:1.0:0.0:0.0	.	112;211	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	N	211;112	ENSP00000312368:D211N;ENSP00000405024:D112N	ENSP00000312368:D211N	D	-	1	0	SNX31	101689948	0.993000	0.37304	0.886000	0.34754	0.284000	0.27059	3.913000	0.56394	2.937000	0.99478	0.650000	0.86243	GAC		0.532	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		6	39	0	0	0	1	0	6	39				
ZDHHC13	54503	broad.mit.edu	37	11	19197407	19197407	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:19197407G>A	ENST00000446113.2	+	17	1890	c.1769G>A	c.(1768-1770)tGt>tAt	p.C590Y	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.C460Y	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	590					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TTCTTTCAGTGTGGCTGCTTT	0.443																																						ENST00000446113.2																			0				NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1768-1770)tGt>tAt		zinc finger, DHHC-type containing 13							95.0	93.0	94.0					11																	19197407		1868	4106	5974	SO:0001583	missense	54503				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding	g.chr11:19197407G>A	AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.1769G>A	11.37:g.19197407G>A	ENSP00000400113:p.Cys590Tyr					ZDHHC13_ENST00000399351.3_Missense_Mutation_p.C460Y	p.C590Y	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN			17	1890	+			590					Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	ENST00000446113.2	37	c.1769G>A	CCDS44550.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222152	0.39300	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.35236	1.32;2.05	5.7	5.7	0.88788	.	0.343050	0.39146	N	0.001444	T	0.43656	0.1257	M	0.68952	2.095	0.51482	D	0.999921	D	0.57571	0.98	P	0.48982	0.597	T	0.39396	-0.9616	10	0.05721	T	0.95	-0.4592	18.608	0.91273	0.0:0.0:1.0:0.0	.	590	Q8IUH4	ZDH13_HUMAN	Y	590;460	ENSP00000400113:C590Y;ENSP00000382288:C460Y	ENSP00000382288:C460Y	C	+	2	0	ZDHHC13	19153983	1.000000	0.71417	0.996000	0.52242	0.540000	0.34992	4.865000	0.62998	2.694000	0.91930	0.467000	0.42956	TGT		0.443	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		14	44	0	0	0	1	0	14	44				
ADCY2	108	broad.mit.edu	37	5	7520913	7520913	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:7520913C>T	ENST00000338316.4	+	3	560	c.471C>T	c.(469-471)gaC>gaT	p.D157D		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	157					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.D157D(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACATGCGAGACGCCATCATTG	0.547																																						ENST00000338316.4																			1	Substitution - coding silent(1)	p.D157D(1)	prostate(1)	NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(469-471)gaC>gaT		adenylate cyclase 2 (brain)							202.0	134.0	157.0					5																	7520913		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7520913C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.471C>T	5.37:g.7520913C>T							p.D157D	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			3	560	+			157					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.471C>T	CCDS3872.2																																																																																				0.547	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		5	62	0	0	0	1	0	5	62				
LAMA3	3909	broad.mit.edu	37	18	21484035	21484035	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr18:21484035G>T	ENST00000313654.9	+	50	6698	c.6457G>T	c.(6457-6459)Gca>Tca	p.A2153S	LAMA3_ENST00000269217.6_Missense_Mutation_p.A544S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.A488S|LAMA3_ENST00000399516.3_Missense_Mutation_p.A2097S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2153	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ACAAGAGCTGGCAAAGCAGCT	0.552																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(6457-6459)Gca>Tca		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						72.0	73.0	72.0					18																	21484035		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21484035G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6457G>T	18.37:g.21484035G>T	ENSP00000324532:p.Ala2153Ser					LAMA3_ENST00000269217.6_Missense_Mutation_p.A544S|LAMA3_ENST00000587184.1_Missense_Mutation_p.A488S|LAMA3_ENST00000399516.3_Missense_Mutation_p.A2097S|LAMA3_ENST00000588770.1_3'UTR	p.A2153S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			50	6698	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2153			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.6457G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353345	0.82132	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.77620	1.83;-1.11;2.01	6.11	6.11	0.99139	.	.	.	.	.	D	0.89829	0.6828	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.994;0.999;0.997	D	0.87620	0.2509	9	0.37606	T	0.19	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	488;544;2097;2153	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	S	2153;2097;544	ENSP00000324532:A2153S;ENSP00000382432:A2097S;ENSP00000269217:A544S	ENSP00000269217:A544S	A	+	1	0	LAMA3	19738033	1.000000	0.71417	0.998000	0.56505	0.414000	0.31173	8.150000	0.89634	2.906000	0.99361	0.655000	0.94253	GCA		0.552	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		19	69	1	0	2.4624e-09	1	2.58552e-09	19	69				
SGSM2	9905	broad.mit.edu	37	17	2268242	2268242	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:2268242C>T	ENST00000426855.2	+	10	1227	c.1052C>T	c.(1051-1053)cCg>cTg	p.P351L	SGSM2_ENST00000574563.1_Missense_Mutation_p.P351L|SGSM2_ENST00000268989.3_Missense_Mutation_p.P351L	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	351					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CAGAGGCCGCCGCTGCATTTC	0.647																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1051-1053)cCg>cTg		small G protein signaling modulator 2							31.0	35.0	33.0					17																	2268242		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2268242C>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1052C>T	17.37:g.2268242C>T	ENSP00000415107:p.Pro351Leu					SGSM2_ENST00000574563.1_Missense_Mutation_p.P351L|SGSM2_ENST00000426855.2_Missense_Mutation_p.P351L	p.P351L	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	10	1229	+			351					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.1052C>T	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	C	34	5.401169	0.96030	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.30981	1.51;1.51	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.991;0.999;0.999	T	0.64080	-0.6491	10	0.87932	D	0	-15.56	18.9161	0.92506	0.0:1.0:0.0:0.0	.	351;351;351	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	L	351	ENSP00000268989:P351L;ENSP00000415107:P351L	ENSP00000268989:P351L	P	+	2	0	SGSM2	2214992	1.000000	0.71417	0.565000	0.28409	0.977000	0.68977	7.482000	0.81143	2.715000	0.92844	0.655000	0.94253	CCG		0.647	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		8	26	0	0	0	1	0	8	26				
DKK2	27123	broad.mit.edu	37	4	107845811	107845811	+	Silent	SNP	C	C	T	rs372180616		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr4:107845811C>T	ENST00000285311.3	-	3	1125	c.420G>A	c.(418-420)ccG>ccA	p.P140P	DKK2_ENST00000513208.1_Silent_p.P40P|DKK2_ENST00000510463.1_Silent_p.P94P	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	140					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CATCCAGAGCCGGGATGTGAG	0.438																																						ENST00000285311.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(418-420)ccG>ccA		dickkopf WNT signaling pathway inhibitor 2		C		0,4406		0,0,2203	228.0	211.0	217.0		420	-9.8	0.9	4		217	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DKK2	NM_014421.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		140/260	107845811	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107845811C>T	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.420G>A	4.37:g.107845811C>T						DKK2_ENST00000513208.1_Silent_p.P40P|DKK2_ENST00000510463.1_Silent_p.P94P	p.P140P	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	3	1125	-		Hepatocellular(203;0.217)	140					A0AVE9|B2R6S7|Q9UIU3	Silent	SNP	ENST00000285311.3	37	c.420G>A	CCDS3675.1																																																																																				0.438	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			18	101	0	0	0	1	0	18	101				
RRM1	6240	broad.mit.edu	37	11	4144500	4144500	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:4144500C>T	ENST00000300738.5	+	12	1410	c.1206C>T	c.(1204-1206)acC>acT	p.T402T	RRM1_ENST00000537197.1_Silent_p.T64T|RRM1_ENST00000423050.2_Silent_p.T305T|RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000534285.1_Silent_p.T180T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	402					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AAACAGGCACCCCGTATATGC	0.463																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(1204-1206)acC>acT		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						108.0	107.0	108.0					11																	4144500		2201	4298	6499	SO:0001819	synonymous_variant	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4144500C>T	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1206C>T	11.37:g.4144500C>T						RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000537197.1_Silent_p.T64T|RRM1_ENST00000534285.1_Silent_p.T180T|RRM1_ENST00000423050.2_Silent_p.T305T	p.T402T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	12	1410	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	402					Q9UNN2	Silent	SNP	ENST00000300738.5	37	c.1206C>T	CCDS7750.1																																																																																				0.463	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		14	71	0	0	0	1	0	14	71				
GPRASP1	9737	broad.mit.edu	37	X	101911740	101911740	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:101911740G>T	ENST00000361600.5	+	5	3700	c.2899G>T	c.(2899-2901)Gcc>Tcc	p.A967S	GPRASP1_ENST00000444152.1_Missense_Mutation_p.A967S|GPRASP1_ENST00000537097.1_Missense_Mutation_p.A967S|GPRASP1_ENST00000415986.1_Missense_Mutation_p.A967S|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	967	Glu-rich.|OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGAGGAAGGGGCCATTGTTGG	0.483																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2899-2901)Gcc>Tcc		G protein-coupled receptor associated sorting protein 1							123.0	111.0	115.0					X																	101911740		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101911740G>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2899G>T	X.37:g.101911740G>T	ENSP00000355146:p.Ala967Ser					GPRASP1_ENST00000361600.5_Missense_Mutation_p.A967S|GPRASP1_ENST00000444152.1_Missense_Mutation_p.A967S|GPRASP1_ENST00000415986.1_Missense_Mutation_p.A967S|RP4-769N13.7_ENST00000602441.1_RNA	p.A967S	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	3712	+			967			Glu-rich.|OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.2899G>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	3.122	-0.180399	0.06380	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	2.82	-4.14	0.03892	.	.	.	.	.	T	0.04092	0.0114	N	0.11427	0.14	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38972	-0.9636	9	0.29301	T	0.29	-0.0139	2.4078	0.04417	0.5381:0.1381:0.1837:0.1401	.	967	Q5JY77	GASP1_HUMAN	S	967	ENSP00000393691:A967S;ENSP00000409420:A967S;ENSP00000355146:A967S;ENSP00000445683:A967S	ENSP00000355146:A967S	A	+	1	0	GPRASP1	101798396	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.481000	0.06552	-1.477000	0.01872	-0.422000	0.05995	GCC		0.483	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		8	116	1	0	1.12685e-05	1	1.16859e-05	8	116				
ZNF135	7694	broad.mit.edu	37	19	58578819	58578819	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr19:58578819G>A	ENST00000313434.5	+	5	1068	c.967G>A	c.(967-969)Gag>Aag	p.E323K	ZNF135_ENST00000511556.1_Missense_Mutation_p.E335K|ZNF135_ENST00000506786.1_Missense_Mutation_p.E281K|ZNF135_ENST00000359978.6_Missense_Mutation_p.E335K|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Missense_Mutation_p.E323K|ZNF135_ENST00000401053.4_Missense_Mutation_p.E347K	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	323					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E347K(1)|p.E323K(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TCACACAGGCGAGAAGCCCTA	0.542																																						ENST00000506786.1																			2	Substitution - Missense(2)	p.E347K(1)|p.E323K(1)	lung(2)	breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(841-843)Gag>Aag		zinc finger protein 135							54.0	52.0	53.0					19																	58578819		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578819G>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.967G>A	19.37:g.58578819G>A	ENSP00000321406:p.Glu323Lys					ZNF135_ENST00000439855.2_Missense_Mutation_p.E323K|ZNF135_ENST00000401053.4_Missense_Mutation_p.E347K|ZNF135_ENST00000313434.5_Missense_Mutation_p.E323K|ZNF135_ENST00000511556.1_Missense_Mutation_p.E335K|ZNF135_ENST00000359978.6_Missense_Mutation_p.E335K	p.E281K			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1395	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	335					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.841G>A		.	.	.	.	.	.	.	.	.	.	G	12.84	2.058938	0.36277	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	3.19	2.09	0.27110	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46852	0.1414	M	0.69823	2.125	0.27007	N	0.964775	D;D;D	0.89917	1.0;0.994;0.976	D;D;P	0.91635	0.999;0.911;0.636	T	0.24870	-1.0148	9	0.56958	D	0.05	.	9.8472	0.41034	0.11:0.0:0.89:0.0	.	335;323;335	E9PEV2;P52742;Q8N1I7	.;ZN135_HUMAN;.	K	335;347;335;323;323;335;281	ENSP00000441410:E347K;ENSP00000369437:E335K;ENSP00000444828:E323K;ENSP00000321406:E323K;ENSP00000422074:E335K;ENSP00000427691:E281K	ENSP00000321406:E323K	E	+	1	0	ZNF135	63270631	0.999000	0.42202	0.018000	0.16275	0.003000	0.03518	2.786000	0.47790	0.639000	0.30564	0.563000	0.77884	GAG		0.542	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		13	44	0	0	0	1	0	13	44				
HDX	139324	broad.mit.edu	37	X	83577004	83577004	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:83577004G>T	ENST00000297977.5	-	10	2077	c.1966C>A	c.(1966-1968)Cct>Act	p.P656T	HDX_ENST00000373177.2_Missense_Mutation_p.P656T|HDX_ENST00000506585.2_Missense_Mutation_p.P598T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	656						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AATTCAGGAGGTAAATCTGAC	0.343																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1966-1968)Cct>Act		highly divergent homeobox							57.0	47.0	50.0					X																	83577004		2203	4298	6501	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83577004G>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1966C>A	X.37:g.83577004G>T	ENSP00000297977:p.Pro656Thr					HDX_ENST00000506585.2_Missense_Mutation_p.P598T|HDX_ENST00000373177.2_Missense_Mutation_p.P656T	p.P656T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			10	2077	-			656					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.1966C>A	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339258	0.60963	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.49720	0.88;0.77;0.88	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	L	0.34521	1.04	0.52099	D	0.999949	D	0.89917	1.0	D	0.83275	0.996	T	0.64630	-0.6362	10	0.87932	D	0	-15.4854	18.5022	0.90886	0.0:0.0:1.0:0.0	.	656	Q7Z353	HDX_HUMAN	T	656;598;656	ENSP00000297977:P656T;ENSP00000362272:P598T;ENSP00000423670:P656T	ENSP00000297977:P656T	P	-	1	0	HDX	83463660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.549000	0.73900	2.311000	0.77944	0.600000	0.82982	CCT		0.343	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		8	16	1	0	0.000274275	1	0.000280965	8	16				
CSTF2	1478	broad.mit.edu	37	X	100075434	100075434	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:100075434C>T	ENST00000372972.2	+	1	45	c.29C>T	c.(28-30)gCg>gTg	p.A10V	SNORA9_ENST00000365361.1_RNA|CSTF2_ENST00000415585.2_Missense_Mutation_p.A10V	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	10					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AGAGACCCAGCGGTGGATCGT	0.567																																						ENST00000415585.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						c.(28-30)gCg>gTg		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa							148.0	104.0	119.0					X																	100075434		2203	4300	6503	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	g.chrX:100075434C>T	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.29C>T	X.37:g.100075434C>T	ENSP00000362063:p.Ala10Val					CSTF2_ENST00000486615.1_3'UTR|CSTF2_ENST00000372972.2_Missense_Mutation_p.A10V	p.A10V			P33240	CSTF2_HUMAN			1	51	+			10					Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.29C>T	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394825	0.83011	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.74209	-0.82;-0.82	4.44	4.44	0.53790	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.61739	0.2371	N	0.24115	0.695	0.80722	D	1	B;B;B	0.33238	0.355;0.337;0.403	B;B;B	0.27076	0.035;0.076;0.055	T	0.67647	-0.5617	10	0.72032	D	0.01	-7.8588	16.6695	0.85262	0.0:1.0:0.0:0.0	.	10;10;10	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	V	10	ENSP00000387996:A10V;ENSP00000362063:A10V	ENSP00000362063:A10V	A	+	2	0	CSTF2	99962090	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.357000	0.73051	2.196000	0.70406	0.600000	0.82982	GCG		0.567	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		11	41	0	0	0	1	0	11	41				
DMBT1	1755	broad.mit.edu	37	10	124392720	124392720	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr10:124392720C>T	ENST00000338354.3	+	49	6130	c.6024C>T	c.(6022-6024)tgC>tgT	p.C2008C	DMBT1_ENST00000344338.3_Silent_p.C1998C|DMBT1_ENST00000330163.4_Silent_p.C1380C|DMBT1_ENST00000368955.3_Silent_p.C1998C|DMBT1_ENST00000359586.6_Silent_p.C728C|DMBT1_ENST00000368909.3_Silent_p.C2008C|DMBT1_ENST00000368956.2_Silent_p.C1380C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2008	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATTATTCCTGCGGAGGCTTCC	0.478																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(6022-6024)tgC>tgT		deleted in malignant brain tumors 1							109.0	106.0	106.0					10																	124392720		1863	4101	5964	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124392720C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6024C>T	10.37:g.124392720C>T						DMBT1_ENST00000344338.3_Silent_p.C1998C|DMBT1_ENST00000338354.3_Silent_p.C2008C|DMBT1_ENST00000359586.6_Silent_p.C728C|DMBT1_ENST00000368956.2_Silent_p.C1380C|DMBT1_ENST00000368955.3_Silent_p.C1998C|DMBT1_ENST00000330163.4_Silent_p.C1380C	p.C2008C	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			49	6130	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2008			CUB 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.6024C>T																																																																																					0.478	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		15	42	0	0	0	1	0	15	42				
KLHDC8A	55220	broad.mit.edu	37	1	205308370	205308370	+	Missense_Mutation	SNP	G	G	A	rs140745821		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr1:205308370G>A	ENST00000367156.3	-	7	1525	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.R237W|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.R124W|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.R103W|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.R237W	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	237										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTGGGCTGCCGGTAGAGGCGA	0.597																																						ENST00000367156.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(709-711)Cgg>Tgg		kelch domain containing 8A		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	55.0	48.0	50.0		709	5.3	1.0	1	dbSNP_134	50	0,8600		0,0,4300	yes	missense	KLHDC8A	NM_018203.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	237/351	205308370	1,13005	2203	4300	6503	SO:0001583	missense	55220							g.chr1:205308370G>A		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.709C>T	1.37:g.205308370G>A	ENSP00000356124:p.Arg237Trp					KLHDC8A_ENST00000537168.1_Missense_Mutation_p.R124W|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.R237W|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.R103W|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.R237W	p.R237W	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		7	1525	-	Breast(84;0.23)		237					B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.709C>T	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060989	0.93846	2.27E-4	0.0	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.28	5.28	0.74379	Kelch-type beta propeller (1);	0.061301	0.64402	D	0.000002	T	0.81484	0.4832	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;P	0.72338	0.977;0.897	D	0.83522	0.0086	10	0.87932	D	0	-17.5022	18.5084	0.90907	0.0:0.0:1.0:0.0	.	124;237	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	W	237;237;237;124	ENSP00000356123:R237W;ENSP00000356124:R237W;ENSP00000442229:R237W;ENSP00000443447:R124W	ENSP00000356123:R237W	R	-	1	2	KLHDC8A	203574993	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.464000	0.53057	2.480000	0.83734	0.655000	0.94253	CGG		0.597	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		11	27	0	0	0	1	0	11	27				
TFAP2B	7021	broad.mit.edu	37	6	50791273	50791273	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr6:50791273T>G	ENST00000393655.3	+	2	404	c.235T>G	c.(235-237)Tac>Gac	p.Y79D	TFAP2B_ENST00000263046.4_Missense_Mutation_p.Y88D|TFAP2B_ENST00000489228.1_3'UTR	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	79	Gln/Pro-rich (transactivation domain).				aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCCGCTCCCCTACCACCAGAG	0.687																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(262-264)Tac>Gac		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							56.0	62.0	60.0					6																	50791273		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50791273T>G	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.235T>G	6.37:g.50791273T>G	ENSP00000377265:p.Tyr79Asp					TFAP2B_ENST00000393655.3_Missense_Mutation_p.Y79D|TFAP2B_ENST00000489228.1_3'UTR	p.Y88D			Q92481	AP2B_HUMAN			3	428	+	Lung NSC(77;0.156)		79			Gln/Pro-rich (transactivation domain).		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.262T>G	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	T	15.06	2.721167	0.48728	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	D;D;D	0.91740	-2.9;-2.9;-2.9	5.36	4.18	0.49190	.	0.118223	0.64402	D	0.000013	D	0.87341	0.6153	M	0.82323	2.585	0.51767	D	0.999938	B	0.27498	0.18	B	0.18871	0.023	D	0.85581	0.1240	10	0.54805	T	0.06	-6.4947	11.6535	0.51304	0.133:0.0:0.0:0.8669	.	79	Q92481	AP2B_HUMAN	D	79;77;88	ENSP00000377265:Y79D;ENSP00000342252:Y77D;ENSP00000263046:Y88D	ENSP00000263046:Y88D	Y	+	1	0	TFAP2B	50899232	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.278000	0.51662	0.855000	0.35359	0.460000	0.39030	TAC		0.687	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		10	37	0	0	0	1	0	10	37				
SH3TC1	54436	broad.mit.edu	37	4	8229065	8229065	+	Silent	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr4:8229065G>A	ENST00000245105.3	+	12	1711	c.1644G>A	c.(1642-1644)ggG>ggA	p.G548G	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000539824.1_Silent_p.G472G	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	548										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGGCCCGGGGGGCGGCCAAGA	0.697																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1414-1416)ggG>ggA		SH3 domain and tetratricopeptide repeats 1							11.0	15.0	13.0					4																	8229065		2145	4232	6377	SO:0001819	synonymous_variant	54436						binding	g.chr4:8229065G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1644G>A	4.37:g.8229065G>A						SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Silent_p.G548G	p.G472G			Q8TE82	S3TC1_HUMAN			12	1790	+			548					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.1416G>A	CCDS3399.1																																																																																				0.697	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		5	23	0	0	0	1	0	5	23				
MAGEB4	4115	broad.mit.edu	37	X	30261033	30261033	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:30261033C>A	ENST00000378982.2	+	1	977	c.781C>A	c.(781-783)Ccc>Acc	p.P261T	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	261	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCAGCAGGTGCCCAACAGTGA	0.493																																						ENST00000378982.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(781-783)Ccc>Acc		melanoma antigen family B, 4							67.0	64.0	65.0					X																	30261033		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30261033C>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.781C>A	X.37:g.30261033C>A	ENSP00000368266:p.Pro261Thr						p.P261T	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN			1	977	+			261			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.781C>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846656	0.32606	.	.	ENSG00000120289	ENST00000378982	T	0.05925	3.37	3.31	0.371	0.16168	.	0.078074	0.52532	U	0.000077	T	0.21801	0.0525	M	0.88031	2.925	0.09310	N	1	D	0.69078	0.997	D	0.71414	0.973	T	0.04294	-1.0962	10	0.87932	D	0	.	5.0598	0.14551	0.0:0.4621:0.4083:0.1297	.	261	O15481	MAGB4_HUMAN	T	261	ENSP00000368266:P261T	ENSP00000368266:P261T	P	+	1	0	MAGEB4	30170954	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.255000	0.02872	-0.036000	0.13669	-0.229000	0.12294	CCC		0.493	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		9	54	1	0	0.0581538	1	0.0588544	9	54				
ABCC9	10060	broad.mit.edu	37	12	22005315	22005315	+	Missense_Mutation	SNP	G	G	A	rs140872303		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr12:22005315G>A	ENST00000261201.4	-	21	2629	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	ABCC9_ENST00000261200.4_Missense_Mutation_p.T877M|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.T841M	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	877	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GTCAGCATGCGTCAGATACTG	0.338																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2629-2631)aCg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	122.0	118.0	119.0		2630,2630	4.6	1.0	12	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense	ABCC9	NM_005691.2,NM_020297.2	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	877/1550,877/1550	22005315	1,13005	2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22005315G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2630C>T	12.37:g.22005315G>A	ENSP00000261201:p.Thr877Met					ABCC9_ENST00000261201.4_Missense_Mutation_p.T877M|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.T841M	p.T877M	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			21	2629	-			877			ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2630C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617781	0.46736	2.27E-4	0.0	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	4.58	4.58	0.56647	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.176315	0.48767	D	0.000165	T	0.80654	0.4664	N	0.12831	0.26	0.35323	D	0.784903	P;P	0.40515	0.46;0.719	B;B	0.38106	0.172;0.265	D	0.87741	0.2585	10	0.87932	D	0	-14.5169	16.1017	0.81175	0.0:0.0:1.0:0.0	.	877;877	O60706;O60706-2	ABCC9_HUMAN;.	M	877;504;877;841	ENSP00000261200:T877M;ENSP00000440521:T504M;ENSP00000261201:T877M;ENSP00000261202:T841M	ENSP00000261200:T877M	T	-	2	0	ABCC9	21896582	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.661000	0.74422	2.520000	0.84964	0.650000	0.86243	ACG		0.338	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		18	101	0	0	0	1	0	18	101				
PSMD11	5717	broad.mit.edu	37	17	30807620	30807620	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:30807620C>T	ENST00000261712.3	+	13	1503	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F	PSMD11_ENST00000457654.2_Missense_Mutation_p.L414F	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	414					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AGTGGATTCCCTCTACAACAA	0.498																																					Ovarian(130;1038 1716 9294 11987 19279)	ENST00000261712.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(1240-1242)Ctc>Ttc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 11							65.0	60.0	62.0					17																	30807620		2203	4300	6503	SO:0001583	missense	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30807620C>T	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.1240C>T	17.37:g.30807620C>T	ENSP00000261712:p.Leu414Phe					PSMD11_ENST00000457654.2_Missense_Mutation_p.L414F	p.L414F	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		13	1503	+		Breast(31;0.159)|Ovarian(249;0.182)	414					A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.1240C>T	CCDS11272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.906715|2.906715	0.52333|0.52333	.|.	.|.	ENSG00000108671|ENSG00000108671	ENST00000261712|ENST00000457654	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84768|0.84768	0.5545|0.5545	M|M	0.90759|0.90759	3.145|3.145	0.80722|0.80722	D|D	1|1	P|.	0.37663|.	0.604|.	B|.	0.40741|.	0.339|.	D|D	0.86906|0.86906	0.2057|0.2057	9|5	0.87932|.	D|.	0|.	-5.906|-5.906	17.0466|17.0466	0.86505|0.86505	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	414|.	O00231|.	PSD11_HUMAN|.	F|L	414|151	.|.	ENSP00000261712:L414F|.	L|P	+|+	1|2	0|0	PSMD11|PSMD11	27831733|27831733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.779000|5.779000	0.68948|0.68948	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.498	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		3	41	0	0	0	1	0	3	41				
F2R	2149	broad.mit.edu	37	5	76028196	76028196	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:76028196A>G	ENST00000319211.4	+	2	411	c.146A>G	c.(145-147)aAt>aGt	p.N49S		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	49					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AGGAACCCCAATGATAAATAT	0.328																																						ENST00000319211.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16						c.(145-147)aAt>aGt		coagulation factor II (thrombin) receptor	Streptokinase(DB00086)						76.0	84.0	82.0					5																	76028196		2201	4298	6499	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028196A>G	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.146A>G	5.37:g.76028196A>G	ENSP00000321326:p.Asn49Ser						p.N49S	NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	411	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	49					Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.146A>G	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	A	1.440	-0.567848	0.03910	.	.	ENSG00000181104	ENST00000319211	T	0.74315	-0.83	4.91	-8.7	0.00851	.	1.492630	0.03674	N	0.244455	T	0.52419	0.1733	L	0.36672	1.1	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.51301	-0.8723	10	0.02654	T	1	-0.3512	4.6962	0.12804	0.2593:0.1818:0.4536:0.1053	.	49	P25116	PAR1_HUMAN	S	49	ENSP00000321326:N49S	ENSP00000321326:N49S	N	+	2	0	F2R	76063952	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.256000	0.08757	-1.601000	0.01601	-0.451000	0.05528	AAT		0.328	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			15	65	0	0	0	1	0	15	65				
PCLO	27445	broad.mit.edu	37	7	82581401	82581401	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr7:82581401C>T	ENST00000333891.9	-	5	9205	c.8868G>A	c.(8866-8868)caG>caA	p.Q2956Q	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Silent_p.Q2956Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCAGGCTGCTGTGCTGTGC	0.448																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8866-8868)caG>caA		piccolo presynaptic cytomatrix protein							109.0	107.0	108.0					7																	82581401		1925	4150	6075	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581401C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8868G>A	7.37:g.82581401C>T						PCLO_ENST00000333891.8_Silent_p.Q2956Q	p.Q2956Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	9205	-			2887						Silent	SNP	ENST00000333891.9	37	c.8868G>A	CCDS47630.1																																																																																				0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		20	113	0	0	0	1	0	20	113				
ATF2	1386	broad.mit.edu	37	2	175979598	175979598	+	Splice_Site	SNP	T	T	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:175979598T>A	ENST00000264110.2	-	8	746		c.e8-2		ATF2_ENST00000345739.5_Splice_Site|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000538946.1_Splice_Site|ATF2_ENST00000426833.3_Splice_Site|ATF2_ENST00000409635.1_Splice_Site|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000409437.1_Intron|ATF2_ENST00000487334.2_Splice_Site|ATF2_ENST00000409833.1_Splice_Site|ATF2_ENST00000392544.1_Splice_Site	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2						adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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 coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	TGGTACTTCCTATTTAACAAT	0.373																																					Pancreas(17;87 705 4534 15538 30988)	ENST00000264110.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17						c.e8-2		activating transcription factor 2							151.0	146.0	148.0					2																	175979598		2203	4300	6503	SO:0001630	splice_region_variant	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175979598T>A	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.448-2A>T	2.37:g.175979598T>A						ATF2_ENST00000409833.1_Splice_Site|ATF2_ENST00000409437.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000409635.1_Splice_Site|ATF2_ENST00000345739.5_Splice_Site|ATF2_ENST00000426833.3_Splice_Site|ATF2_ENST00000538946.1_Splice_Site|ATF2_ENST00000392544.1_Splice_Site|ATF2_ENST00000487334.2_Splice_Site		NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		8	746	-								A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Splice_Site	SNP	ENST00000264110.2	37		CCDS2262.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.844180	0.71488	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409635;ENST00000435004;ENST00000392544;ENST00000426833;ENST00000538946;ENST00000487334;ENST00000437522;ENST00000409833	.	.	.	5.55	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3507	0.49585	0.0:0.0712:0.0:0.9288	.	.	.	.	.	-1	.	.	.	-	.	.	ATF2	175687844	1.000000	0.71417	0.878000	0.34440	0.968000	0.65278	6.271000	0.72569	0.943000	0.37553	0.477000	0.44152	.		0.373	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880	Intron	21	69	0	0	0	1	0	21	69				
MX2	4600	broad.mit.edu	37	21	42774001	42774001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr21:42774001C>T	ENST00000330714.3	+	11	1703	c.1519C>T	c.(1519-1521)Cag>Tag	p.Q507*	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	507					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CATCGTGCATCAGTACATCCA	0.458																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(1519-1521)Cag>Tag		myxovirus (influenza virus) resistance 2 (mouse)							111.0	105.0	107.0					21																	42774001		2203	4300	6503	SO:0001587	stop_gained	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42774001C>T		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1519C>T	21.37:g.42774001C>T	ENSP00000333657:p.Gln507*					MX2_ENST00000496774.1_3'UTR	p.Q507*	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			11	1703	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	507					B7Z5D3|D3DSI7	Nonsense_Mutation	SNP	ENST00000330714.3	37	c.1519C>T	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075859	0.76415	.	.	ENSG00000183486	ENST00000330714	.	.	.	3.69	0.039	0.14202	.	0.433417	0.24564	N	0.037445	.	.	.	.	.	.	0.35297	D	0.782681	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	7.3841	0.26872	0.3449:0.2808:0.3744:0.0	.	.	.	.	X	507	.	ENSP00000333657:Q507X	Q	+	1	0	MX2	41695871	0.196000	0.23350	0.000000	0.03702	0.177000	0.22998	0.452000	0.21795	-0.118000	0.11851	-0.356000	0.07607	CAG		0.458	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		11	59	0	0	0	1	0	11	59				
PDIA4	9601	broad.mit.edu	37	7	148718147	148718147	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr7:148718147C>T	ENST00000286091.4	-	2	413	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	61	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			ACTCCATTTTCTTCCTTAACT	0.438																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(181-183)Gaa>Aaa		protein disulfide isomerase family A, member 4							197.0	182.0	187.0					7																	148718147		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148718147C>T	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.181G>A	7.37:g.148718147C>T	ENSP00000286091:p.Glu61Lys						p.E61K	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		2	413	-	Melanoma(164;0.15)		61			Thioredoxin 1.		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.181G>A	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612585	0.87258	.	.	ENSG00000155660	ENST00000286091;ENST00000413966	T;T	0.38560	1.13;1.13	4.45	4.45	0.53987	Thioredoxin-like fold (3);	0.113799	0.64402	U	0.000018	T	0.60038	0.2238	M	0.64260	1.97	0.80722	D	1	D	0.65815	0.995	D	0.69479	0.964	T	0.57057	-0.7876	10	0.26408	T	0.33	.	17.4823	0.87675	0.0:1.0:0.0:0.0	.	61	P13667	PDIA4_HUMAN	K	61;109	ENSP00000286091:E61K;ENSP00000408628:E109K	ENSP00000286091:E61K	E	-	1	0	PDIA4	148349080	1.000000	0.71417	0.994000	0.49952	0.942000	0.58702	7.549000	0.82163	2.191000	0.70037	0.563000	0.77884	GAA		0.438	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		5	28	0	0	0	1	0	5	28				
CUZD1	50624	broad.mit.edu	37	10	124594347	124594347	+	Silent	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr10:124594347G>A	ENST00000368904.1	-	9	2206	c.1257C>T	c.(1255-1257)aaC>aaT	p.N419N	CUZD1_ENST00000545804.1_Silent_p.N419N|CUZD1_ENST00000392790.1_Silent_p.N419N					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AAAGAGTTTGGTTCAAATCCA	0.393																																						ENST00000368904.1																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39						c.(1255-1257)aaC>aaT		CUB and zona pellucida-like domains 1							79.0	74.0	75.0					10																	124594347		2203	4300	6503	SO:0001819	synonymous_variant	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124594347G>A	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1257C>T	10.37:g.124594347G>A						CUZD1_ENST00000545804.1_Silent_p.N419N|CUZD1_ENST00000392790.1_Silent_p.N419N	p.N419N			Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	9	2206	-		all_neural(114;0.169)|Glioma(114;0.222)	419			ZP.			Silent	SNP	ENST00000368904.1	37	c.1257C>T	CCDS7631.1																																																																																				0.393	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		12	12	0	0	0	1	0	12	12				
NPY5R	4889	broad.mit.edu	37	4	164272199	164272199	+	Silent	SNP	T	T	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr4:164272199T>A	ENST00000515560.1	+	4	2296	c.774T>A	c.(772-774)acT>acA	p.T258T	NPY5R_ENST00000338566.3_Silent_p.T258T|NPY5R_ENST00000506953.1_Silent_p.T258T			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	258					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TCAACTTAACTCTTCATCCAT	0.373																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(772-774)acT>acA		neuropeptide Y receptor Y5							70.0	72.0	72.0					4																	164272199		2203	4300	6503	SO:0001819	synonymous_variant	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272199T>A	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.774T>A	4.37:g.164272199T>A						NPY5R_ENST00000506953.1_Silent_p.T258T|NPY5R_ENST00000338566.3_Silent_p.T258T	p.T258T			Q15761	NPY5R_HUMAN			4	2296	+	all_hematologic(180;0.166)	Prostate(90;0.109)	258					Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	c.774T>A	CCDS3804.1																																																																																				0.373	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		8	71	0	0	0	1	0	8	71				
BTNL8	79908	broad.mit.edu	37	5	180376261	180376261	+	Silent	SNP	C	C	T	rs145611296	byFrequency	TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:180376261C>T	ENST00000340184.4	+	7	1064	c.858C>T	c.(856-858)caC>caT	p.H286H	BTNL8_ENST00000400707.3_Silent_p.H161H|BTNL8_ENST00000508408.1_Missense_Mutation_p.R323C|BTNL8_ENST00000505126.1_Silent_p.H79H|BTNL8_ENST00000533815.2_Silent_p.H102H|BTNL8_ENST00000231229.4_Missense_Mutation_p.R330C|BTNL8_ENST00000511704.1_Silent_p.H170H	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	286	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGGAAACACGCAGGTACCA	0.557													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14018	0.0		0.0	False		,,,				2504	0.0					ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(988-990)Cgc>Tgc		butyrophilin-like 8							56.0	63.0	61.0					5																	180376261		2165	3957	6122	SO:0001819	synonymous_variant	79908					integral to membrane		g.chr5:180376261C>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.858C>T	5.37:g.180376261C>T						BTNL8_ENST00000505126.1_Silent_p.H79H|BTNL8_ENST00000533815.2_Silent_p.H102H|BTNL8_ENST00000340184.4_Silent_p.H286H|BTNL8_ENST00000508408.1_Missense_Mutation_p.R323C|BTNL8_ENST00000400707.3_Silent_p.H161H|BTNL8_ENST00000511704.1_Silent_p.H170H	p.R330C	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1222	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	481			B30.2/SPRY.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.988C>T	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244743	0.22796	.	.	ENSG00000113303	ENST00000231229;ENST00000508408	T;T	0.02121	4.44;4.46	1.48	-1.34	0.09143	.	.	.	.	.	T	0.01765	0.0056	.	.	.	0.19775	N	0.999952	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44862	-0.9300	8	0.52906	T	0.07	.	4.2897	0.10872	0.0:0.4622:0.0:0.5378	.	323;330	F2Z2B2;A6NEX6	.;.	C	330;323	ENSP00000231229:R330C;ENSP00000424585:R323C	ENSP00000231229:R330C	R	+	1	0	BTNL8	180308867	0.005000	0.15991	0.000000	0.03702	0.538000	0.34931	-0.497000	0.06428	-0.317000	0.08677	-0.465000	0.05216	CGC		0.557	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		4	49	0	0	0	1	0	4	49				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cTt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047L	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	53	0	0	0	1	0	4	53				
MADD	8567	broad.mit.edu	37	11	47311780	47311780	+	Silent	SNP	C	C	T	rs141671072		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:47311780C>T	ENST00000311027.5	+	19	3249	c.3084C>T	c.(3082-3084)caC>caT	p.H1028H	MADD_ENST00000342922.4_Silent_p.H1008H|MADD_ENST00000407859.3_Silent_p.H985H|MADD_ENST00000349238.3_Silent_p.H1028H|MADD_ENST00000395336.3_Silent_p.H1028H|MADD_ENST00000402192.2_Silent_p.H1008H|MADD_ENST00000395344.3_Silent_p.H965H|MADD_ENST00000402799.1_Silent_p.H965H|MADD_ENST00000406482.1_Silent_p.H965H|MADD_ENST00000405573.2_5'Flank	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCTATGCCCACGCGGGTCTGG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		19753	0.0		0.0	False		,,,				2504	0.001					ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(3022-3024)caC>caT		MAP-kinase activating death domain		C	,,,,,,,,,	0,4402		0,0,2201	114.0	104.0	107.0		2895,2895,3084,3024,2955,2895,3084,2895,3084,3024	-11.4	0.0	11	dbSNP_134	107	5,8591	4.3+/-15.6	0,5,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MADD	NM_001135943.1,NM_001135944.1,NM_003682.3,NM_130470.2,NM_130471.2,NM_130472.2,NM_130473.2,NM_130474.2,NM_130475.2,NM_130476.2	,,,,,,,,,	0,5,6494	TT,TC,CC		0.0582,0.0,0.0385	,,,,,,,,,	965/1545,965/1542,1028/1648,1008/1589,985/1566,965/1546,1028/1609,965/1480,1028/1582,1008/1588	47311780	5,12993	2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47311780C>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3084C>T	11.37:g.47311780C>T						MADD_ENST00000407859.3_Silent_p.H985H|MADD_ENST00000406482.1_Silent_p.H965H|MADD_ENST00000402799.1_Silent_p.H965H|MADD_ENST00000395336.3_Silent_p.H1028H|MADD_ENST00000402192.2_Silent_p.H1008H|MADD_ENST00000395344.3_Silent_p.H965H|MADD_ENST00000349238.3_Silent_p.H1028H|MADD_ENST00000311027.5_Silent_p.H1028H	p.H1008H	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	18	3381	+			1028						Silent	SNP	ENST00000311027.5	37	c.3024C>T	CCDS7930.1																																																																																				0.547	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			14	46	0	0	0	1	0	14	46				
EGFL7	51162	broad.mit.edu	37	9	139563048	139563048	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr9:139563048C>T	ENST00000371699.1	+	4	1031	c.120C>T	c.(118-120)gtC>gtT	p.V40V	EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000406555.3_Silent_p.V40V|EGFL7_ENST00000308874.7_Silent_p.V40V|EGFL7_ENST00000371698.3_Silent_p.V40V|MIR126_ENST00000362291.1_RNA			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	40	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GGGACCCTGTCTCCGAGTCGT	0.677																																						ENST00000371699.1																			0				kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6						c.(118-120)gtC>gtT		EGF-like-domain, multiple 7							75.0	72.0	73.0					9																	139563048		2203	4297	6500	SO:0001819	synonymous_variant	51162				angiogenesis|vasculogenesis		calcium ion binding	g.chr9:139563048C>T	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.120C>T	9.37:g.139563048C>T						EGFL7_ENST00000308874.7_Silent_p.V40V|EGFL7_ENST00000406555.3_Silent_p.V40V|EGFL7_ENST00000371698.3_Silent_p.V40V|EGFL7_ENST00000492002.1_3'UTR	p.V40V			Q9UHF1	EGFL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	4	1031	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	40			EMI.		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Silent	SNP	ENST00000371699.1	37	c.120C>T	CCDS7002.1																																																																																				0.677	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		26	77	0	0	0	1	0	26	77				
RBMXL2	27288	broad.mit.edu	37	11	7111074	7111074	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:7111074C>T	ENST00000306904.5	+	1	910	c.723C>T	c.(721-723)cgC>cgT	p.R241R		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	241	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACACCCACCGCGATTACGGCC	0.657																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(721-723)cgC>cgT		RNA binding motif protein, X-linked-like 2							22.0	24.0	23.0					11																	7111074		2193	4277	6470	SO:0001819	synonymous_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111074C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.723C>T	11.37:g.7111074C>T							p.R241R	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	910	+			241			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	c.723C>T	CCDS7777.1																																																																																				0.657	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		6	29	0	0	0	1	0	6	29				
LZTR1	8216	broad.mit.edu	37	22	21349017	21349017	+	Splice_Site	SNP	G	G	A	rs145594158		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr22:21349017G>A	ENST00000215739.8	+	15	2144		c.e15+1		LZTR1_ENST00000389355.3_Splice_Site|LZTR1_ENST00000479606.1_Splice_Site	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1						anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCAACTCAAGGTGTGGGGTGG	0.682																																						ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.e15+1		leucine-zipper-like transcription regulator 1		G		0,4404		0,0,2202	36.0	35.0	35.0			3.7	1.0	22	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	no	splice-5	LZTR1	NM_006767.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077			21349017	1,13003	2202	4300	6502	SO:0001630	splice_region_variant	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21349017G>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1785+1G>A	22.37:g.21349017G>A						LZTR1_ENST00000389355.3_Splice_Site|LZTR1_ENST00000479606.1_Splice_Site		NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		15	2144	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)						Q14776|Q20WK0	Splice_Site	SNP	ENST00000215739.8	37		CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659899	0.47572	0.0	1.16E-4	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	.	.	.	4.72	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7208	0.57142	0.0:0.1667:0.8333:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LZTR1	19679017	1.000000	0.71417	0.980000	0.43619	0.662000	0.39071	9.583000	0.98217	1.188000	0.43014	0.457000	0.33378	.		0.682	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	Intron	8	17	0	0	0	1	0	8	17				
FAM161B	145483	broad.mit.edu	37	14	74404345	74404345	+	Missense_Mutation	SNP	C	C	A	rs571286955		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr14:74404345C>A	ENST00000534936.1	-	7	1730	c.1625G>T	c.(1624-1626)cGa>cTa	p.R542L	RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000286544.3_Missense_Mutation_p.R605L			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	542										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TGTTTGTATTCGCTGCTTCAT	0.343																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.(1813-1815)cGa>cTa		family with sequence similarity 161, member B							252.0	232.0	239.0					14																	74404345		2203	4300	6503	SO:0001583	missense	145483							g.chr14:74404345C>A	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1625G>T	14.37:g.74404345C>A	ENSP00000445326:p.Arg542Leu					FAM161B_ENST00000534936.1_Missense_Mutation_p.R542L|RP5-1021I20.5_ENST00000555916.1_RNA	p.R605L	NM_152445.2	NP_689658.2					7	2012	-								B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37	c.1814G>T		.	.	.	.	.	.	.	.	.	.	C	29.0	4.965052	0.92855	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.46063	1.03;0.88	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000002	T	0.67154	0.2863	M	0.76170	2.325	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.69157	-0.5219	10	0.87932	D	0	-14.9747	19.4568	0.94895	0.0:1.0:0.0:0.0	.	542	Q96MY7	F161B_HUMAN	L	605;542	ENSP00000286544:R605L;ENSP00000445326:R542L	ENSP00000286544:R605L	R	-	2	0	FAM161B	73474098	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.962000	0.63687	2.832000	0.97577	0.655000	0.94253	CGA		0.343	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		4	162	1	0	0.184627	1	0.184627	4	162				
PPP1R15A	23645	broad.mit.edu	37	19	49377238	49377238	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr19:49377238C>T	ENST00000200453.5	+	2	1017	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	250	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CTCCGTGTCCCCCCGATCTTC	0.557																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(748-750)Ccc>Tcc		protein phosphatase 1, regulatory subunit 15A							58.0	69.0	65.0					19																	49377238		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377238C>T	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.748C>T	19.37:g.49377238C>T	ENSP00000200453:p.Pro250Ser						p.P250S	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1017	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	250			Glu-rich.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.748C>T	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	C	6.191	0.403468	0.11754	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05447	3.44	3.83	-2.87	0.05700	.	1.542860	0.03941	N	0.286955	T	0.03915	0.0110	N	0.17312	0.475	0.09310	N	1	B	0.22080	0.064	B	0.20184	0.028	T	0.42515	-0.9447	10	0.23302	T	0.38	-1.6377	4.5667	0.12189	0.0:0.2936:0.197:0.5093	.	250	O75807	PR15A_HUMAN	S	250;90;208	ENSP00000200453:P250S	ENSP00000200453:P250S	P	+	1	0	PPP1R15A	54069050	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.042000	0.12063	-0.261000	0.09405	0.561000	0.74099	CCC		0.557	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		10	48	0	0	0	1	0	10	48				
TMEM132D	121256	broad.mit.edu	37	12	129569084	129569084	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr12:129569084T>C	ENST00000422113.2	-	6	1933	c.1607A>G	c.(1606-1608)aAt>aGt	p.N536S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.N74S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	536					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTGATCTGATTGAGCTCGGT	0.592																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1606-1608)aAt>aGt		transmembrane protein 132D							82.0	62.0	69.0					12																	129569084		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129569084T>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1607A>G	12.37:g.129569084T>C	ENSP00000408581:p.Asn536Ser					TMEM132D_ENST00000389441.4_Missense_Mutation_p.N74S	p.N536S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	6	1933	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	536					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1607A>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	0.234	-1.018579	0.02078	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.06933	3.24;3.24	4.79	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.03477	0.0100	N	0.02286	-0.61	0.41982	D	0.9908	B;B	0.26672	0.037;0.156	B;B	0.30495	0.05;0.116	T	0.49360	-0.8948	9	.	.	.	-47.1263	10.17	0.42904	0.0:0.0792:0.0:0.9208	.	536;74	Q14C87;Q14C87-2	T132D_HUMAN;.	S	74;536	ENSP00000374092:N74S;ENSP00000408581:N536S	.	N	-	2	0	TMEM132D	128135037	1.000000	0.71417	0.990000	0.47175	0.498000	0.33706	1.152000	0.31663	0.680000	0.31366	0.459000	0.35465	AAT		0.592	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		4	14	0	0	0	1	0	4	14				
RANBP2	5903	broad.mit.edu	37	2	109384118	109384118	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:109384118G>A	ENST00000283195.6	+	20	7249	c.7123G>A	c.(7123-7125)Gac>Aac	p.D2375N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2375	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATGAGAAGGGACCAAGTATT	0.353																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(7123-7125)Gac>Aac		RAN binding protein 2							63.0	74.0	70.0					2																	109384118		2077	3990	6067	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109384118G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7123G>A	2.37:g.109384118G>A	ENSP00000283195:p.Asp2375Asn						p.D2375N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	7249	+			2375			RanBD1 3.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.7123G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052998	0.75960	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.51574	0.7	5.47	5.47	0.80525	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.72526	0.3471	M	0.81341	2.54	0.46927	D	0.999256	D	0.76494	0.999	D	0.87578	0.998	T	0.75496	-0.3297	9	0.87932	D	0	-25.6483	19.698	0.96034	0.0:0.0:1.0:0.0	.	2375	P49792	RBP2_HUMAN	N	1399;2375	ENSP00000283195:D2375N	ENSP00000283195:D2375N	D	+	1	0	RANBP2	108750550	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.813000	0.99286	2.736000	0.93811	0.305000	0.20034	GAC		0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		55	211	0	0	0	1	0	55	211				
THRB	7068	broad.mit.edu	37	3	24193966	24193966	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr3:24193966T>C	ENST00000356447.4	-	5	583	c.299A>G	c.(298-300)tAc>tGc	p.Y100C	THRB_ENST00000396671.2_Missense_Mutation_p.Y100C|THRB_ENST00000416420.1_Missense_Mutation_p.Y100C|THRB_ENST00000280696.5_Missense_Mutation_p.Y115C	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	100	Modulating.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CTTGTCTAAGTAACTGGGGAT	0.443																																					Melanoma(21;896 1043 15021 37958)	ENST00000396671.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19						c.(298-300)tAc>tGc		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						133.0	113.0	120.0					3																	24193966		2203	4300	6503	SO:0001583	missense	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24193966T>C		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.299A>G	3.37:g.24193966T>C	ENSP00000348827:p.Tyr100Cys					THRB_ENST00000416420.1_Missense_Mutation_p.Y100C|THRB_ENST00000280696.5_Missense_Mutation_p.Y115C|THRB_ENST00000356447.4_Missense_Mutation_p.Y100C	p.Y100C	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN			6	647	-			100			Modulating.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Missense_Mutation	SNP	ENST00000356447.4	37	c.299A>G	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.505970	0.64410	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000280696;ENST00000413780;ENST00000415021;ENST00000447875;ENST00000453729;ENST00000431815;ENST00000447414	D;D;D;D;D	0.96745	-3.23;-3.23;-3.23;-3.24;-4.11	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000007	D	0.96522	0.8865	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.96924	0.9676	10	0.48119	T	0.1	.	15.8802	0.79197	0.0:0.0:0.0:1.0	.	115;100	P10828-2;P10828	.;THB_HUMAN	C	100;100;100;115;69;100;100;100;100;100	ENSP00000379904:Y100C;ENSP00000348827:Y100C;ENSP00000414444:Y100C;ENSP00000280696:Y115C;ENSP00000414100:Y69C	ENSP00000280696:Y115C	Y	-	2	0	THRB	24168970	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.020000	0.88740	2.152000	0.67230	0.459000	0.35465	TAC		0.443	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		9	23	0	0	0	1	0	9	23				
TMEM171	134285	broad.mit.edu	37	5	72419284	72419284	+	Silent	SNP	C	C	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:72419284C>T	ENST00000454765.2	+	2	557	c.84C>T	c.(82-84)ttC>ttT	p.F28F	TMEM171_ENST00000287773.5_Silent_p.F28F			Q8WVE6	TM171_HUMAN	transmembrane protein 171	28						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TCTTTGTCTTCGGCGCCGTCT	0.577																																					NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(82-84)ttC>ttT		transmembrane protein 171							125.0	118.0	120.0					5																	72419284		2203	4300	6503	SO:0001819	synonymous_variant	134285					integral to membrane		g.chr5:72419284C>T	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.84C>T	5.37:g.72419284C>T						TMEM171_ENST00000287773.5_Silent_p.F28F	p.F28F			Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	2	557	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	28					Q8N0S1|Q8TDT7	Silent	SNP	ENST00000454765.2	37	c.84C>T	CCDS4017.1																																																																																				0.577	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		5	96	0	0	0	1	0	5	96				
LRP2	4036	broad.mit.edu	37	2	170038125	170038125	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:170038125G>T	ENST00000263816.3	-	52	10287	c.10002C>A	c.(10000-10002)taC>taA	p.Y3334*	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3334					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCCAGTAGAGGTACCTGTCAG	0.483																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(10000-10002)taC>taA		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						96.0	83.0	87.0					2																	170038125		2203	4300	6503	SO:0001587	stop_gained	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170038125G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10002C>A	2.37:g.170038125G>T	ENSP00000263816:p.Tyr3334*					LRP2_ENST00000461418.1_5'UTR	p.Y3334*	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	52	10287	-			3334					O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	c.10002C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	51	17.554366	0.99889	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	.	.	.	5.66	0.663	0.17885	.	0.998870	0.08105	N	0.997127	.	.	.	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.3677	0.04323	0.4935:0.1683:0.2403:0.0979	.	.	.	.	X	3334;29	.	ENSP00000263816:Y3334X	Y	-	3	2	LRP2	169746371	0.637000	0.27216	0.417000	0.26559	0.046000	0.14306	0.318000	0.19504	0.093000	0.17368	-0.768000	0.03414	TAC		0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		10	33	1	0	2.74318e-10	1	2.9168e-10	10	33				
SDHAP1	255812	broad.mit.edu	37	3	195701331	195701331	+	RNA	SNP	G	G	A	rs78212497		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr3:195701331G>A	ENST00000427841.1	-	0	1493					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GTCCAATAGCGAGTTTGCCCC	0.592																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195701331G>A	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701331G>A								NR_003264.2						0	1493	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.592	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			7	105	0	0	0	1	0	7	105				
DTX4	23220	broad.mit.edu	37	11	58972233	58972233	+	Missense_Mutation	SNP	G	G	A	rs376862310		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:58972233G>A	ENST00000227451.3	+	9	1815	c.1711G>A	c.(1711-1713)Gtc>Atc	p.V571I	DTX4_ENST00000532982.1_Missense_Mutation_p.V465I	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	571					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.V465I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GTCAGACACCGTCATCTGGAA	0.532																																						ENST00000227451.3																			1	Substitution - Missense(1)	p.V465I(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1711-1713)Gtc>Atc		deltex homolog 4 (Drosophila)		G	ILE/VAL	0,4260		0,0,2130	76.0	77.0	77.0		1711	5.4	1.0	11		77	1,8515		0,1,4257	no	missense	DTX4	NM_015177.1	29	0,1,6387	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	571/620	58972233	1,12775	2130	4258	6388	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58972233G>A	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1711G>A	11.37:g.58972233G>A	ENSP00000227451:p.Val571Ile					DTX4_ENST00000532982.1_Missense_Mutation_p.V465I	p.V571I	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			9	1815	+		all_epithelial(135;0.125)	571					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.1711G>A	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425456	0.83667	0.0	1.17E-4	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.53423	0.62;0.62	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	L	0.54908	1.71	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.63532	-0.6616	10	0.46703	T	0.11	.	18.0339	0.89293	0.0:0.0:1.0:0.0	.	571	Q9Y2E6	DTX4_HUMAN	I	465;571	ENSP00000434055:V465I;ENSP00000227451:V571I	ENSP00000227451:V571I	V	+	1	0	DTX4	58728809	1.000000	0.71417	0.953000	0.39169	0.323000	0.28346	9.869000	0.99810	2.565000	0.86533	0.591000	0.81541	GTC		0.532	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		5	12	0	0	0	1	0	5	12				
ITGAX	3687	broad.mit.edu	37	16	31388578	31388578	+	Silent	SNP	G	G	A			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr16:31388578G>A	ENST00000268296.4	+	23	2902	c.2781G>A	c.(2779-2781)gtG>gtA	p.V927V	ITGAX_ENST00000562522.1_Silent_p.V927V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	927					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCTACACTGTGGTTAGCAGGT	0.502																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(2779-2781)gtG>gtA		integrin, alpha X (complement component 3 receptor 4 subunit)							95.0	99.0	98.0					16																	31388578		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31388578G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2781G>A	16.37:g.31388578G>A						ITGAX_ENST00000562522.1_Silent_p.V927V	p.V927V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			23	2902	+			927					Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.2781G>A	CCDS10711.1																																																																																				0.502	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		15	76	0	0	0	1	0	15	76				
MED13L	23389	broad.mit.edu	37	12	116418604	116418605	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr12:116418604_116418605insT	ENST00000281928.3	-	23	5520_5521	c.5314_5315insA	c.(5314-5316)acgfs	p.T1772fs		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1772						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCCAAATCCCGTGAGGGATTTA	0.45																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5314-5316)gggfs		mediator complex subunit 13-like																																				SO:0001589	frameshift_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116418604_116418605insT	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5315dupA	12.37:g.116418605_116418605dupT	ENSP00000281928:p.Thr1772fs						p.G1772fs	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	23	5520_5521	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1772					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Frame_Shift_Ins	INS	ENST00000281928.3	37	c.5314_5315insA	CCDS9177.1																																																																																				0.450	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			26	86						26	86	---	---	---	---
SNX29P2	440352	broad.mit.edu	37	16	29337651	29337652	+	lincRNA	INS	-	-	CAGAG	rs140530121|rs375360483	byFrequency	TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr16:29337651_29337652insCAGAG	ENST00000398878.3	+	0	724							Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		CCCCGTTCACACCTGTTTCCTC	0.599														198	0.0395367	0.0507	0.0259	5008	,	,		15880	0.001		0.0527	False		,,,				2504	0.0603					ENST00000398878.3																			0																																																			0							g.chr16:29337651_29337652insCAGAG	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29337651_29337652insCAGAG														0	724	+									RNA	INS	ENST00000398878.3	37																																																																																						0.599	SNX29P2-202	KNOWN	basic	lincRNA	lincRNA		NR_002939		4	4						4	4	---	---	---	---
