#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
GABRA3	2556	broad.mit.edu	37	X	151532994	151532994	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:151532994G>C	ENST00000370314.4	-	2	287	c.49C>G	c.(49-51)Ctt>Gtt	p.L17V	GABRA3_ENST00000535043.1_Missense_Mutation_p.L17V	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	17					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L17I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATCAGGAAAAGAATCCCAAGG	0.453																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			1	Substitution - Missense(1)	p.L17I(1)	large_intestine(1)	breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(49-51)Ctt>Gtt		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						160.0	139.0	146.0					X																	151532994		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151532994G>C		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.49C>G	X.37:g.151532994G>C	ENSP00000359337:p.Leu17Val					GABRA3_ENST00000370311.1_Missense_Mutation_p.L17V|GABRA3_ENST00000535043.1_Missense_Mutation_p.L17V	p.L17V	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN			2	287	-	Acute lymphoblastic leukemia(192;6.56e-05)		17					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.49C>G	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802741	0.31869	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	T;T;T	0.72725	-0.68;-0.68;-0.68	5.29	5.29	0.74685	.	1.807920	0.02759	N	0.118416	T	0.77438	0.4130	N	0.19112	0.55	0.25656	N	0.986053	P	0.46578	0.88	P	0.62184	0.899	T	0.67677	-0.5609	10	0.59425	D	0.04	.	13.1956	0.59736	0.0:0.0:1.0:0.0	.	17	P34903	GBRA3_HUMAN	V	17	ENSP00000359337:L17V;ENSP00000359334:L17V;ENSP00000443527:L17V	ENSP00000359334:L17V	L	-	1	0	GABRA3	151283650	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	2.982000	0.49337	2.175000	0.68902	0.600000	0.82982	CTT		0.453	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		30	127	0	0	0	1	0	30	127				
KIAA1191	57179	broad.mit.edu	37	5	175779732	175779732	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr5:175779732C>T	ENST00000298569.4	-	5	760	c.227G>A	c.(226-228)aGt>aAt	p.S76N	KIAA1191_ENST00000393725.2_Missense_Mutation_p.S57N|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.S76N|KIAA1191_ENST00000393728.2_Intron|RP11-843P14.1_ENST00000512934.1_RNA	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	76						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GGAGGGTAGACTGGCCTCTCC	0.527																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(226-228)aGt>aAt		KIAA1191							77.0	66.0	70.0					5																	175779732		2203	4300	6503	SO:0001583	missense	57179						protein binding	g.chr5:175779732C>T	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.227G>A	5.37:g.175779732C>T	ENSP00000298569:p.Ser76Asn					KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.S76N|KIAA1191_ENST00000393725.2_Missense_Mutation_p.S57N|KIAA1191_ENST00000393728.2_Intron|RP11-843P14.2_ENST00000508187.1_RNA	p.S76N	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	5	760	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	76					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP	ENST00000298569.4	37	c.227G>A	CCDS4399.1	.	.	.	.	.	.	.	.	.	.	C	1.433	-0.569693	0.03910	.	.	ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164;ENST00000506983;ENST00000503082;ENST00000504688	.	.	.	4.48	2.51	0.30379	.	0.569900	0.20123	N	0.098776	T	0.28167	0.0695	L	0.37750	1.13	0.21782	N	0.999547	B	0.21606	0.058	B	0.18561	0.022	T	0.16129	-1.0413	9	0.24483	T	0.36	-0.1085	6.9808	0.24702	0.0:0.6212:0.1357:0.2431	.	76	Q96A73	K1191_HUMAN	N	76;57;76;57;57;57	.	ENSP00000298569:S76N	S	-	2	0	KIAA1191	175712338	0.255000	0.24002	0.523000	0.27875	0.254000	0.26022	0.376000	0.20535	0.459000	0.27016	-1.164000	0.01763	AGT		0.527	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		13	43	0	0	0	1	0	13	43				
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {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.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(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)	TCATGGATTAGAAGATTTGCT	0.348		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		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		19	Substitution - Missense(16)|Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)	endometrium(8)|breast(6)|lung(2)|large_intestine(1)|stomach(1)|central_nervous_system(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.(1357-1359)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							137.0	130.0	132.0					3																	178928079		1829	4090	5919	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.chr3:178928079G>A		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.1357G>A	3.37:g.178928079G>A	ENSP00000263967:p.Glu453Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E453K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1514	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		453		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).	C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1357G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164616	0.94727	.	.	ENSG00000121879	ENST00000263967	T	0.71103	-0.54	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77130	0.4085	M	0.68317	2.08	0.80722	D	1	P	0.50528	0.936	P	0.50970	0.655	T	0.72500	-0.4274	10	0.20046	T	0.44	-22.2286	19.6973	0.96031	0.0:0.0:1.0:0.0	.	453	P42336	PK3CA_HUMAN	K	453	ENSP00000263967:E453K	ENSP00000263967:E453K	E	+	1	0	PIK3CA	180410773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.674000	0.91012	0.655000	0.94253	GAA		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			20	96	0	0	0	1	0	20	96				
GMPR	2766	broad.mit.edu	37	6	16295259	16295259	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:16295259G>A	ENST00000259727.4	+	9	994	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	294					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TAAGACTGTGGAAGTTCCTTA	0.498																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(880-882)Gaa>Aaa		guanosine monophosphate reductase							72.0	74.0	73.0					6																	16295259		2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16295259G>A		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.880G>A	6.37:g.16295259G>A	ENSP00000259727:p.Glu294Lys					GMPR_ENST00000544145.1_3'UTR	p.E294K	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			9	994	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	294					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.880G>A	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474322	0.26423	.	.	ENSG00000137198	ENST00000259727	T	0.79554	-1.28	5.66	5.66	0.87406	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.098059	0.64402	D	0.000002	T	0.54143	0.1840	N	0.17312	0.475	0.80722	D	1	B	0.17852	0.024	B	0.20184	0.028	T	0.58352	-0.7651	10	0.07813	T	0.8	-40.2627	19.7403	0.96228	0.0:0.0:1.0:0.0	.	294	P36959	GMPR1_HUMAN	K	294	ENSP00000259727:E294K	ENSP00000259727:E294K	E	+	1	0	GMPR	16403238	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.682000	0.84083	2.652000	0.90054	0.655000	0.94253	GAA		0.498	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			11	55	0	0	0	1	0	11	55				
OFD1	8481	broad.mit.edu	37	X	13786333	13786333	+	Missense_Mutation	SNP	C	C	T	rs1801618		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:13786333C>T	ENST00000340096.6	+	21	3245	c.2918C>T	c.(2917-2919)tCg>tTg	p.S973L	OFD1_ENST00000380567.1_Missense_Mutation_p.S833L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.S933L	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	973	Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GACCAGGAGTCGGCAGATAAG	0.478																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2497-2499)tCg>tTg		oral-facial-digital syndrome 1							48.0	47.0	47.0					X																	13786333		2201	4300	6501	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13786333C>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.2918C>T	X.37:g.13786333C>T	ENSP00000344314:p.Ser973Leu					OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.S933L|OFD1_ENST00000340096.6_Missense_Mutation_p.S973L	p.S833L			O75665	OFD1_HUMAN			22	3370	+			973			Mediates the interaction with SDCCAG8.		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.2498C>T	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266641	0.40095	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.95412	-2.3;-3.7;-1.58	5.4	-6.06	0.02165	.	3.317490	0.01019	N	0.003956	D	0.88433	0.6435	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.81302	-0.0994	10	0.24483	T	0.36	10.7317	4.4907	0.11812	0.0999:0.1402:0.1952:0.5646	.	972;933;641;833;973	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	L	933;973;833	ENSP00000369923:S933L;ENSP00000344314:S973L;ENSP00000369941:S833L	ENSP00000344314:S973L	S	+	2	0	OFD1	13696254	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.927000	0.01561	-1.981000	0.00989	-1.913000	0.00520	TCG		0.478	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		15	89	0	0	0	1	0	15	89				
PA2G4	5036	broad.mit.edu	37	12	56504773	56504773	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr12:56504773C>T	ENST00000303305.6	+	10	1287	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	290					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GAAGAAGGCTCGGATGGGTGT	0.418																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(868-870)Cgg>Tgg		proliferation-associated 2G4, 38kDa							63.0	60.0	61.0					12																	56504773		2203	4300	6503	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56504773C>T	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.868C>T	12.37:g.56504773C>T	ENSP00000302886:p.Arg290Trp					PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	p.R290W	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		10	1287	+			290					O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.868C>T	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827117	0.50739	.	.	ENSG00000170515	ENST00000303305;ENST00000417031;ENST00000546435	.	.	.	4.8	4.8	0.61643	Winged helix-turn-helix transcription repressor DNA-binding (1);Peptidase M24, structural domain (1);	0.000000	0.85682	D	0.000000	T	0.54319	0.1851	M	0.78285	2.405	0.80722	D	1	P;P	0.48016	0.904;0.609	B;B	0.36845	0.234;0.075	T	0.64799	-0.6322	9	0.72032	D	0.01	.	10.921	0.47165	0.3014:0.6986:0.0:0.0	.	290;290	F8VTY8;Q9UQ80	.;PA2G4_HUMAN	W	290;319;290	.	ENSP00000302886:R290W	R	+	1	2	PA2G4	54791040	0.989000	0.36119	1.000000	0.80357	0.999000	0.98932	1.391000	0.34475	2.372000	0.80975	0.650000	0.86243	CGG		0.418	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		13	46	0	0	0	1	0	13	46				
ING1	3621	broad.mit.edu	37	13	111372025	111372025	+	Nonsense_Mutation	SNP	C	C	T	rs368239053		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr13:111372025C>T	ENST00000375774.3	+	2	1477	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	ING1_ENST00000375775.3_Nonsense_Mutation_p.R127*|ING1_ENST00000338450.7_Nonsense_Mutation_p.R152*|ING1_ENST00000333219.7_Nonsense_Mutation_p.R196*	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	339					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R196*(3)|p.R339*(1)|p.R152*(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CAAGGCGGAGCGAGAGGCGTC	0.627																																						ENST00000375774.3																			5	Substitution - Nonsense(5)	p.R196*(3)|p.R339*(1)|p.R152*(1)	endometrium(3)|large_intestine(2)	endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(1015-1017)Cga>Tga		inhibitor of growth family, member 1							102.0	71.0	81.0					13																	111372025		2203	4300	6503	SO:0001587	stop_gained	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111372025C>T		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.1015C>T	13.37:g.111372025C>T	ENSP00000364929:p.Arg339*					ING1_ENST00000375775.3_Nonsense_Mutation_p.R127*|ING1_ENST00000333219.7_Nonsense_Mutation_p.R196*|ING1_ENST00000338450.7_Nonsense_Mutation_p.R152*	p.R339*	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		2	1477	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		339					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Nonsense_Mutation	SNP	ENST00000375774.3	37	c.1015C>T	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461577	0.63513	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	.	.	.	5.41	-4.77	0.03219	.	0.047098	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-45.0616	23.0881	0.99979	0.1965:0.8034:0.0:0.0	.	.	.	.	X	152;196;127;339	.	ENSP00000328436:R196X	R	+	1	2	ING1	110170026	0.974000	0.33945	0.853000	0.33588	0.380000	0.30137	0.240000	0.18042	-1.095000	0.03050	-0.500000	0.04577	CGA		0.627	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		13	39	0	0	0	1	0	13	39				
HCFC1	3054	broad.mit.edu	37	X	153228837	153228837	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:153228837A>C	ENST00000310441.7	-	4	1517	c.551T>G	c.(550-552)gTg>gGg	p.V184G	HCFC1_ENST00000369984.4_Missense_Mutation_p.V184G|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.V184G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	184					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGCTACCACTCCAGAGCC	0.522																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(550-552)gTg>gGg		host cell factor C1 (VP16-accessory protein)							65.0	66.0	66.0					X																	153228837		1968	4135	6103	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153228837A>C		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.551T>G	X.37:g.153228837A>C	ENSP00000309555:p.Val184Gly					HCFC1_ENST00000354233.3_Missense_Mutation_p.V184G|HCFC1_ENST00000369984.4_Missense_Mutation_p.V184G	p.V184G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			4	1517	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		184					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.551T>G	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.561961	0.65538	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.67345	-0.26;-0.26;4.09	5.27	5.27	0.74061	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.79257	0.4415	M	0.77616	2.38	0.80722	D	1	D	0.56746	0.977	D	0.66602	0.945	T	0.77683	-0.2496	10	0.25106	T	0.35	.	13.383	0.60780	1.0:0.0:0.0:0.0	.	184	P51610	HCFC1_HUMAN	G	184	ENSP00000309555:V184G;ENSP00000359001:V184G;ENSP00000346174:V184G	ENSP00000309555:V184G	V	-	2	0	HCFC1	152882031	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.180000	0.77674	1.871000	0.54225	0.430000	0.28490	GTG		0.522	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		13	61	0	0	0	1	0	13	61				
DFNA5	1687	broad.mit.edu	37	7	24789217	24789217	+	Silent	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:24789217G>A	ENST00000342947.3	-	2	602	c.177C>T	c.(175-177)ggC>ggT	p.G59G	DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.G59G|DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000409970.1_Intron	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	59					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TGAGTACATCGCCAAGGGTGA	0.388																																					GBM(78;184 1250 20134 20900 23600)	ENST00000342947.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(175-177)ggC>ggT		deafness, autosomal dominant 5							152.0	160.0	158.0					7																	24789217		2203	4300	6503	SO:0001819	synonymous_variant	1687				sensory perception of sound			g.chr7:24789217G>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.177C>T	7.37:g.24789217G>A						DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409970.1_Intron|DFNA5_ENST00000409775.3_Silent_p.G59G|DFNA5_ENST00000419307.1_Intron	p.G59G	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN			2	602	-			59					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	c.177C>T	CCDS5389.1																																																																																				0.388	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		4	166	0	0	0	1	0	4	166				
C1orf106	55765	broad.mit.edu	37	1	200880683	200880683	+	Silent	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:200880683C>T	ENST00000367342.4	+	9	1517	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	C1orf106_ENST00000413687.2_Silent_p.P354P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	439										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCTGCTTTCCCGCGACCAAGC	0.682																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1315-1317)ccC>ccT		chromosome 1 open reading frame 106							87.0	105.0	99.0					1																	200880683		2203	4300	6503	SO:0001819	synonymous_variant	55765							g.chr1:200880683C>T	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1317C>T	1.37:g.200880683C>T						C1orf106_ENST00000413687.2_Silent_p.P354P	p.P439P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			9	1517	+			439					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37	c.1317C>T																																																																																					0.682	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		32	192	0	0	0	1	0	32	192				
BAG3	9531	broad.mit.edu	37	10	121432114	121432114	+	Silent	SNP	G	G	A	rs147259596	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr10:121432114G>A	ENST00000369085.3	+	3	1161	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	285					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGAGCAGCACGCCACTCCACT	0.657																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(853-855)acG>acA		BCL2-associated athanogene 3		G		2,4404	4.2+/-10.8	0,2,2201	45.0	52.0	49.0		855	-8.6	0.2	10	dbSNP_134	49	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	BAG3	NM_004281.3		0,8,6495	AA,AG,GG		0.0698,0.0454,0.0615		285/576	121432114	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121432114G>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.855G>A	10.37:g.121432114G>A							p.T285T	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	3	1161	+		Lung NSC(174;0.109)|all_lung(145;0.142)	285					A8K5L8|Q3B763|Q9NT20|Q9P120	Silent	SNP	ENST00000369085.3	37	c.855G>A	CCDS7615.1																																																																																				0.657	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		7	63	0	0	0	1	0	7	63				
TRAF6	7189	broad.mit.edu	37	11	36512016	36512016	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr11:36512016C>A	ENST00000526995.1	-	7	1187	c.941G>T	c.(940-942)cGg>cTg	p.R314L	TRAF6_ENST00000348124.5_Missense_Mutation_p.R314L|TRAF6_ENST00000529150.1_5'UTR	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	314	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				AGTCAGCTCCCGGATTTGATG	0.458																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(940-942)cGg>cTg		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							148.0	136.0	140.0					11																	36512016		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36512016C>A		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.941G>T	11.37:g.36512016C>A	ENSP00000433623:p.Arg314Leu					TRAF6_ENST00000348124.5_Missense_Mutation_p.R314L|TRAF6_ENST00000529150.1_5'UTR	p.R314L	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			7	1187	-	all_lung(20;0.211)	all_hematologic(20;0.107)	314			Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.941G>T	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895473	0.72639	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	D;D	0.82433	-1.61;-1.61	5.13	5.13	0.70059	.	0.050409	0.85682	D	0.000000	D	0.85168	0.5635	M	0.81497	2.545	0.80722	D	1	B	0.20052	0.041	B	0.25759	0.063	T	0.82252	-0.0549	10	0.39692	T	0.17	-12.8578	18.9251	0.92541	0.0:1.0:0.0:0.0	.	314	Q9Y4K3	TRAF6_HUMAN	L	314	ENSP00000433623:R314L;ENSP00000337853:R314L	ENSP00000337853:R314L	R	-	2	0	TRAF6	36468592	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.955000	0.76007	2.540000	0.85666	0.555000	0.69702	CGG		0.458	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		4	172	1	0	0.184627	1	0.187984	4	172				
DLC1	10395	broad.mit.edu	37	8	12957910	12957910	+	Silent	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr8:12957910G>A	ENST00000276297.4	-	9	2345	c.1936C>T	c.(1936-1938)Ctg>Ttg	p.L646L	DLC1_ENST00000520226.1_Silent_p.L135L|DLC1_ENST00000512044.2_Silent_p.L243L|DLC1_ENST00000358919.2_Silent_p.L209L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	646					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAGCTGGACAGTTCCTTGGGA	0.567																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1936-1938)Ctg>Ttg		deleted in liver cancer 1							100.0	94.0	96.0					8																	12957910		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957910G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1936C>T	8.37:g.12957910G>A						DLC1_ENST00000358919.2_Silent_p.L209L|DLC1_ENST00000520226.1_Silent_p.L135L|DLC1_ENST00000512044.2_Silent_p.L243L	p.L646L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2345	-			646					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.1936C>T	CCDS5989.1																																																																																				0.567	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	126	0	0	0	1	0	4	126				
AOC1	26	broad.mit.edu	37	7	150555011	150555011	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:150555011G>A	ENST00000493429.1	+	4	2037	c.1453G>A	c.(1453-1455)Gtc>Atc	p.V485I	AOC1_ENST00000416793.2_Missense_Mutation_p.V485I|AOC1_ENST00000360937.4_Missense_Mutation_p.V485I|AOC1_ENST00000467291.1_Missense_Mutation_p.V485I			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	485					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CACTGGCTACGTCCACGCCAC	0.557																																						ENST00000493429.1																			0											c.(1453-1455)Gtc>Atc		amine oxidase, copper containing 1							70.0	77.0	75.0					7																	150555011		2162	4253	6415	SO:0001583	missense	26							g.chr7:150555011G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1453G>A	7.37:g.150555011G>A	ENSP00000418614:p.Val485Ile					AOC1_ENST00000416793.2_Missense_Mutation_p.V485I|AOC1_ENST00000467291.1_Missense_Mutation_p.V485I|AOC1_ENST00000360937.4_Missense_Mutation_p.V485I	p.V485I							4	2037	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1453G>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.083052	0.00371	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000487631;ENST00000416793;ENST00000437714	T;T;T;T	0.03358	3.96;3.96;3.96;3.96	5.26	0.0561	0.14318	Copper amine oxidase, C-terminal (3);	0.247403	0.39687	N	0.001283	T	0.01156	0.0038	N	0.02357	-0.585	0.19300	N	0.99998	B;B	0.15141	0.012;0.001	B;B	0.18263	0.021;0.009	T	0.47129	-0.9141	10	0.02654	T	1	-8.6596	5.3639	0.16103	0.4161:0.137:0.4469:0.0	.	485;485	C9J690;P19801	.;ABP1_HUMAN	I	485;485;485;11;485;361	ENSP00000418614:V485I;ENSP00000418328:V485I;ENSP00000354193:V485I;ENSP00000411613:V485I	ENSP00000354193:V485I	V	+	1	0	ABP1	150185944	0.145000	0.22656	0.212000	0.23672	0.197000	0.23852	0.595000	0.24029	-0.161000	0.10983	-1.002000	0.02502	GTC		0.557	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		21	106	0	0	0	1	0	21	106				
FRMPD4	9758	broad.mit.edu	37	X	12720061	12720061	+	Silent	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:12720061C>T	ENST00000380682.1	+	10	1508	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	334	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGCGGCTGGCCGCATTACAAA	0.507											OREG0019670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(1000-1002)gcC>gcT		FERM and PDZ domain containing 4							153.0	125.0	134.0					X																	12720061		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12720061C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1002C>T	X.37:g.12720061C>T			OREG0019670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	682		p.A334A	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			10	1508	+			334			FERM.		A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.1002C>T	CCDS35201.1																																																																																				0.507	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		32	126	0	0	0	1	0	32	126				
TRRAP	8295	broad.mit.edu	37	7	98508712	98508712	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:98508712G>A	ENST00000359863.4	+	17	2034	c.1825G>A	c.(1825-1827)Gga>Aga	p.G609R	TRRAP_ENST00000355540.3_Missense_Mutation_p.G609R|TRRAP_ENST00000446306.3_Missense_Mutation_p.G608R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	609					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGATAGCAGGAAATGGACA	0.453																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(1825-1827)Gga>Aga		transformation/transcription domain-associated protein							84.0	75.0	78.0					7																	98508712		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98508712G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1825G>A	7.37:g.98508712G>A	ENSP00000352925:p.Gly609Arg					TRRAP_ENST00000355540.3_Missense_Mutation_p.G609R|TRRAP_ENST00000446306.3_Missense_Mutation_p.G608R	p.G609R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		17	2034	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		609					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.1825G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258328	0.59321	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.43294	0.95;0.95	5.95	5.95	0.96441	Armadillo-type fold (1);	0.130938	0.56097	D	0.000037	T	0.34890	0.0913	L	0.34521	1.04	0.58432	D	0.999997	B;B;B	0.31174	0.311;0.128;0.207	B;B;B	0.27076	0.076;0.025;0.023	T	0.07597	-1.0764	10	0.18276	T	0.48	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	609;323;609	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	R	609;609;607	ENSP00000352925:G609R;ENSP00000347733:G609R	ENSP00000347733:G609R	G	+	1	0	TRRAP	98346648	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.490000	0.81461	2.827000	0.97445	0.650000	0.86243	GGA		0.453	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		10	66	0	0	0	1	0	10	66				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	55	0	0	0	1	0	4	55				
POT1	25913	broad.mit.edu	37	7	124499166	124499166	+	Splice_Site	SNP	C	C	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:124499166C>A	ENST00000357628.3	-	9	1145	c.547G>T	c.(547-549)Gta>Tta	p.V183L	POT1_ENST00000393329.1_Splice_Site_p.V52L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	183					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.V183L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCATCCCATACCTGCCATAAG	0.353																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			2	Substitution - Missense(2)	p.V183L(2)	lung(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.e9-1		protection of telomeres 1							55.0	55.0	55.0					7																	124499166		2203	4300	6503	SO:0001630	splice_region_variant	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124499166C>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.547-1G>T	7.37:g.124499166C>A						POT1_ENST00000393329.1_Splice_Site_p.V52_splice	p.V183_splice	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			9	1145	-			183					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Splice_Site	SNP	ENST00000357628.3	37	c.546_splice	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778544	0.90195	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.64991	-0.03;-0.13	5.98	5.98	0.97165	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.79896	0.4525	M	0.79475	2.455	0.58432	D	0.999996	D	0.76494	0.999	D	0.71656	0.974	T	0.76903	-0.2787	10	0.36615	T	0.2	-10.0886	19.4402	0.94817	0.0:1.0:0.0:0.0	.	183	Q9NUX5	POTE1_HUMAN	L	183;52;183;183;183;182	ENSP00000350249:V183L;ENSP00000377002:V52L	ENSP00000265391:V182L	V	-	1	0	POT1	124286402	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	5.957000	0.70323	2.838000	0.97847	0.591000	0.81541	GTA		0.353	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1		Missense_Mutation	8	40	1	0	1.12685e-05	1	1.23733e-05	8	40				
ZP2	7783	broad.mit.edu	37	16	21214448	21214448	+	Missense_Mutation	SNP	A	A	G	rs142277591		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr16:21214448A>G	ENST00000574002.1	-	11	1579	c.1097T>C	c.(1096-1098)aTa>aCa	p.I366T	ZP2_ENST00000219593.4_Missense_Mutation_p.I366T|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.I366T			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	366					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCTTTACCTATAGAAACGGG	0.418																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(1096-1098)aTa>aCa		zona pellucida glycoprotein 2 (sperm receptor)		A	THR/ILE	0,4400		0,0,2200	90.0	90.0	90.0		1097	5.0	0.9	16	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZP2	NM_003460.1	89	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	366/746	21214448	1,12999	2200	4300	6500	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21214448A>G	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1097T>C	16.37:g.21214448A>G	ENSP00000460971:p.Ile366Thr					AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.I366T|ZP2_ENST00000574091.1_Missense_Mutation_p.I366T	p.I366T			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	11	1579	-			366					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.1097T>C	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.280259	0.59758	0.0	1.16E-4	ENSG00000103310	ENST00000219593	T	0.78246	-1.16	6.08	4.99	0.66335	.	0.331001	0.33199	N	0.005171	T	0.81508	0.4837	M	0.78801	2.425	0.40845	D	0.9837	P;P	0.52842	0.956;0.956	P;P	0.50049	0.629;0.629	T	0.82581	-0.0386	10	0.54805	T	0.06	-11.3189	10.1491	0.42782	0.9251:0.0:0.0749:0.0	.	366;366	Q4VAP1;Q05996	.;ZP2_HUMAN	T	366	ENSP00000219593:I366T	ENSP00000219593:I366T	I	-	2	0	ZP2	21121949	1.000000	0.71417	0.850000	0.33497	0.800000	0.45204	4.038000	0.57318	1.120000	0.41904	0.533000	0.62120	ATA		0.418	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			12	47	0	0	0	1	0	12	47				
PDCD4	27250	broad.mit.edu	37	10	112641024	112641024	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr10:112641024G>A	ENST00000280154.7	+	3	351	c.77G>A	c.(76-78)gGt>gAt	p.G26D	PDCD4_ENST00000393104.2_Missense_Mutation_p.G15D	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	26					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTCTTTTCCGGTGATGAAGAA	0.318																																					Ovarian(115;1498 1603 9363 40056 40885)	ENST00000393104.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(43-45)gGt>gAt		programmed cell death 4 (neoplastic transformation inhibitor)							75.0	86.0	82.0					10																	112641024		2203	4300	6503	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112641024G>A	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.77G>A	10.37:g.112641024G>A	ENSP00000280154:p.Gly26Asp					PDCD4_ENST00000280154.7_Missense_Mutation_p.G26D	p.G15D	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	4	404	+		Breast(234;0.0848)|Lung NSC(174;0.238)	26					B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.44G>A	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625607	0.46840	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.32988	1.48;1.43	5.34	5.34	0.76211	.	0.110120	0.64402	D	0.000009	T	0.23289	0.0563	N	0.22421	0.69	0.54753	D	0.999984	B;B	0.30068	0.267;0.164	B;B	0.25140	0.058;0.027	T	0.03212	-1.1060	10	0.39692	T	0.17	-18.2216	17.5813	0.87969	0.0:0.0:1.0:0.0	.	26;15	Q53EL6;B5ME91	PDCD4_HUMAN;.	D	26;15	ENSP00000280154:G26D;ENSP00000376816:G15D	ENSP00000280154:G26D	G	+	2	0	PDCD4	112631014	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	4.829000	0.62737	2.651000	0.90000	0.585000	0.79938	GGT		0.318	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		19	101	0	0	0	1	0	19	101				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			16	92	0	0	0	1	0	16	92				
MAX	4149	broad.mit.edu	37	14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr14:65544747C>T	ENST00000358664.4	-	4	309	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000284165.6_Missense_Mutation_p.R60Q|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555932.1_Intron|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000341653.2_Intron|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	60	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R60Q(5)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498																																						ENST00000284165.6																			5	Substitution - Missense(5)	p.R60Q(5)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.(178-180)cGg>cAg		MYC associated factor X							100.0	88.0	92.0					14																	65544747		2203	4300	6503	SO:0001583	missense	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65544747C>T		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.179G>A	14.37:g.65544747C>T	ENSP00000351490:p.Arg60Gln					MAX_ENST00000557277.1_5'UTR|MAX_ENST00000341653.2_Intron|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000358664.4_Missense_Mutation_p.R60Q|MAX_ENST00000555932.1_Intron|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q	p.R60Q	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	327	-			60			Helix-loop-helix motif.		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.179G>A	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661506	0.67700	.	.	ENSG00000125952	ENST00000358402;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443	D;D;D;D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.32;-4.58;-4.58;-4.58;-4.58	5.72	3.91	0.45181	Helix-loop-helix DNA-binding (5);	0.119749	0.56097	D	0.000028	D	0.98492	0.9497	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.991;0.994;0.995;0.985	D	0.98698	1.0699	10	0.87932	D	0	-3.6574	11.4065	0.49900	0.0:0.8517:0.0:0.1483	.	60;51;51;60;60	Q14803;Q6V3B1;P61244-2;P61244;P61244-3	.;.;.;MAX_HUMAN;.	Q	51;60;60;24;67;60;51;51;51	ENSP00000351175:R51Q;ENSP00000284165:R60Q;ENSP00000351490:R60Q;ENSP00000452405:R24Q;ENSP00000452378:R60Q;ENSP00000452286:R51Q;ENSP00000452197:R51Q;ENSP00000450818:R51Q	ENSP00000284165:R60Q	R	-	2	0	MAX	64614500	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.037000	0.70956	0.774000	0.33427	-0.140000	0.14226	CGG		0.498	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		19	60	0	0	0	1	0	19	60				
COL27A1	85301	broad.mit.edu	37	9	117050747	117050747	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr9:117050747G>A	ENST00000356083.3	+	42	4391	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1334	Collagen-like 12.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGAGCAGGGCGAGGACGGCAA	0.637																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(4000-4002)Gag>Aag		collagen, type XXVII, alpha 1							37.0	37.0	37.0					9																	117050747		2203	4298	6501	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117050747G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4000G>A	9.37:g.117050747G>A	ENSP00000348385:p.Glu1334Lys						p.E1334K	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			42	4391	+			1334			Collagen-like 12.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.4000G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615010	0.66672	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.88818	-2.43	4.72	3.82	0.43975	.	.	.	.	.	D	0.82342	0.5016	M	0.63843	1.955	0.31284	N	0.690284	P	0.40681	0.727	B	0.28991	0.097	T	0.77691	-0.2493	9	0.10902	T	0.67	.	10.9666	0.47416	0.0934:0.0:0.9066:0.0	.	1334	Q8IZC6	CORA1_HUMAN	K	1334	ENSP00000348385:E1334K	ENSP00000348385:E1334K	E	+	1	0	COL27A1	116090568	1.000000	0.71417	0.986000	0.45419	0.969000	0.65631	6.474000	0.73578	1.111000	0.41721	0.591000	0.81541	GAG		0.637	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		4	17	0	0	0	1	0	4	17				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			3	71	1	0	0.150653	1	0.156233	3	71				
ADAMTS7	11173	broad.mit.edu	37	15	79059041	79059041	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr15:79059041T>C	ENST00000388820.4	-	19	3422	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1071S(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCGTGGAAATTGATGAAATT	0.617																																						ENST00000388820.4																			4	Substitution - Missense(4)	p.N1071S(4)	lung(2)|kidney(2)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3211-3213)aAt>aGt		ADAM metallopeptidase with thrombospondin type 1 motif, 7																																				SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059041T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3212A>G	15.37:g.79059041T>C	ENSP00000373472:p.Asn1071Ser						p.N1071S	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3422	-			1071					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.3212A>G	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	t	16.38	3.107658	0.56291	.	.	ENSG00000136378	ENST00000388820	T	0.61742	0.08	4.66	2.13	0.27403	.	0.056036	0.64402	D	0.000002	T	0.59252	0.2180	M	0.76002	2.32	0.35198	D	0.774007	P	0.48503	0.911	P	0.46144	0.505	T	0.66571	-0.5890	10	0.41790	T	0.15	.	10.1871	0.43004	0.0:0.0:0.3202:0.6798	.	1071	Q9UKP4	ATS7_HUMAN	S	1071	ENSP00000373472:N1071S	ENSP00000373472:N1071S	N	-	2	0	ADAMTS7	76846096	1.000000	0.71417	0.986000	0.45419	0.484000	0.33280	3.143000	0.50608	0.107000	0.17824	0.367000	0.22151	AAT		0.617	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		4	44	0	0	0	1	0	4	44				
VIL1	7429	broad.mit.edu	37	2	219296838	219296838	+	Missense_Mutation	SNP	G	G	A	rs371206014		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:219296838G>A	ENST00000248444.5	+	12	1361	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	VIL1_ENST00000392114.2_Missense_Mutation_p.D114N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	425	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.D425Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTATGGGGGCGACTGCTACCT	0.592																																						ENST00000248444.5																			1	Substitution - Missense(1)	p.D425Y(1)	lung(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1273-1275)Gac>Aac		villin 1		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	95.0	72.0	80.0		1273	3.6	0.8	2		80	3,8597	3.0+/-9.4	0,3,4297	no	missense	VIL1	NM_007127.2	23	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging	425/828	219296838	4,13002	2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219296838G>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1273G>A	2.37:g.219296838G>A	ENSP00000248444:p.Asp425Asn					VIL1_ENST00000392114.2_Missense_Mutation_p.D114N	p.D425N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	1361	+		Renal(207;0.0474)	425			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.1273G>A	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375030	0.42105	2.27E-4	3.49E-4	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.22134	1.97;1.97	4.53	3.64	0.41730	Gelsolin domain (1);	0.133466	0.47455	D	0.000225	T	0.52322	0.1727	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.62487	-0.6844	10	0.48119	T	0.1	-37.3431	14.6602	0.68865	0.0:0.1462:0.8537:0.0	.	425	P09327	VILI_HUMAN	N	425;114	ENSP00000248444:D425N;ENSP00000375962:D114N	ENSP00000248444:D425N	D	+	1	0	VIL1	219005082	1.000000	0.71417	0.776000	0.31678	0.027000	0.11550	9.638000	0.98445	1.135000	0.42183	-0.314000	0.08810	GAC		0.592	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		6	46	0	0	0	1	0	6	46				
AHRR	57491	broad.mit.edu	37	5	413500	413500	+	Silent	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr5:413500G>A	ENST00000505113.1	+	5	449	c.405G>A	c.(403-405)acG>acA	p.T135T	AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000316418.5_Silent_p.T135T	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	135	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CAGAAGGGACGATATTTTATG	0.403																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(403-405)acG>acA		aryl-hydrocarbon receptor repressor							152.0	136.0	141.0					5																	413500		1900	4110	6010	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:413500G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.405G>A	5.37:g.413500G>A						AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000505113.1_Silent_p.T135T	p.T135T	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		5	449	+			135			PAS.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.405G>A	CCDS56355.1																																																																																				0.403	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		21	82	0	0	0	1	0	21	82				
NLGN4X	57502	broad.mit.edu	37	X	5811260	5811260	+	Silent	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:5811260C>T	ENST00000381095.3	-	6	2676	c.2049G>A	c.(2047-2049)gcG>gcA	p.A683A	NLGN4X_ENST00000538097.1_Silent_p.A683A|NLGN4X_ENST00000275857.6_Silent_p.A683A|NLGN4X_ENST00000381092.1_Silent_p.A683A|NLGN4X_ENST00000381093.2_Silent_p.A703A	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	683					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGAGGAGCGACGCCCCGACGG	0.522													C|||	2	0.000529801	0.0	0.0	3775	,	,		14477	0.0		0.0	False		,,,				2504	0.002					ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(2047-2049)gcG>gcA		neuroligin 4, X-linked							105.0	95.0	98.0					X																	5811260		2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811260C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2049G>A	X.37:g.5811260C>T						NLGN4X_ENST00000381092.1_Silent_p.A683A|NLGN4X_ENST00000538097.1_Silent_p.A683A|NLGN4X_ENST00000381093.2_Silent_p.A703A|NLGN4X_ENST00000275857.6_Silent_p.A683A	p.A683A	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			6	2676	-			683					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.2049G>A	CCDS14126.1																																																																																				0.522	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		23	92	0	0	0	1	0	23	92				
RAD51AP1	10635	broad.mit.edu	37	12	4668029	4668029	+	Missense_Mutation	SNP	C	C	T	rs140432356		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr12:4668029C>T	ENST00000352618.4	+	9	928	c.878C>T	c.(877-879)tCt>tTt	p.S293F	RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000544927.1_Silent_p.L224L|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.S310F|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S191F|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.S260F	NM_006479.4	NP_006470.1			RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCAGCGGCATCTGGAGGTAGC	0.418													.|||	1	0.000199681	0.0	0.0	5008	,	,		19520	0.0		0.001	False		,,,				2504	0.0					ENST00000228843.9																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13						c.(928-930)tCt>tTt		RAD51 associated protein 1		C	PHE/SER,PHE/SER	0,4406		0,0,2203	109.0	96.0	100.0		929,878	4.7	0.0	12	dbSNP_134	100	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	RAD51AP1	NM_001130862.1,NM_006479.4	155,155	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	probably-damaging,probably-damaging	310/353,293/336	4668029	6,13000	2203	4300	6503	SO:0001583	missense	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4668029C>T	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000352618.4:c.878C>T	12.37:g.4668029C>T	ENSP00000309479:p.Ser293Phe					RAD51AP1_ENST00000352618.4_Missense_Mutation_p.S293F|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S191F|RAD51AP1_ENST00000544927.1_Silent_p.L224L|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.S260F	p.S310F	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		10	979	+			310						Missense_Mutation	SNP	ENST00000352618.4	37	c.929C>T	CCDS8529.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.96	2.393154	0.42410	0.0	6.98E-4	ENSG00000111247	ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618	T;T;T;T	0.40756	1.27;1.15;1.02;1.02	4.67	4.67	0.58626	.	0.594667	0.15580	N	0.254994	T	0.61961	0.2389	M	0.65975	2.015	0.09310	N	0.999999	D;D;D;P	0.89917	0.999;0.999;1.0;0.765	D;D;D;B	0.87578	0.996;0.997;0.998;0.245	T	0.53136	-0.8481	10	0.59425	D	0.04	-10.6814	12.9459	0.58371	0.0:1.0:0.0:0.0	.	191;310;310;293	B4DUS5;Q96B01;A8K313;Q96B01-2	.;R51A1_HUMAN;.;.	F	260;191;310;293	ENSP00000323750:S260F;ENSP00000439960:S191F;ENSP00000228843:S310F;ENSP00000309479:S293F	ENSP00000228843:S310F	S	+	2	0	RAD51AP1	4538290	0.274000	0.24191	0.046000	0.18839	0.940000	0.58332	4.067000	0.57527	2.429000	0.82318	0.655000	0.94253	TCT		0.418	RAD51AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398293.1	NM_006479		11	60	0	0	0	1	0	11	60				
ACAN	176	broad.mit.edu	37	15	89400165	89400165	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr15:89400165G>T	ENST00000561243.1	+	11	4349	c.4349G>T	c.(4348-4350)gGg>gTg	p.G1450V	ACAN_ENST00000559004.1_Missense_Mutation_p.G1450V|ACAN_ENST00000352105.7_Missense_Mutation_p.G1450V|ACAN_ENST00000439576.2_Missense_Mutation_p.G1450V			P16112	PGCA_HUMAN	aggrecan	1453	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGATCAGCGGGCTTCCTTCT	0.512																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4348-4350)gGg>gTg		aggrecan							105.0	106.0	106.0					15																	89400165		1842	4093	5935	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400165G>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4349G>T	15.37:g.89400165G>T	ENSP00000453342:p.Gly1450Val					ACAN_ENST00000561243.1_Missense_Mutation_p.G1450V|ACAN_ENST00000559004.1_Missense_Mutation_p.G1450V|ACAN_ENST00000352105.7_Missense_Mutation_p.G1450V	p.G1450V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	4723	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1450					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.4349G>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	-	10.46	1.355363	0.24512	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.95482	-3.72;-3.72	3.62	1.62	0.23740	.	.	.	.	.	D	0.91740	0.7388	L	0.49350	1.555	0.09310	N	0.999995	P;P	0.37824	0.609;0.467	B;B	0.36885	0.235;0.132	D	0.83671	0.0166	9	0.42905	T	0.14	.	6.4036	0.21652	0.1024:0.0:0.7159:0.1817	.	1450;1450	E7ENV9;E7EX88	.;.	V	1450;1450;1336	ENSP00000387356:G1450V;ENSP00000341615:G1450V	ENSP00000268134:G1336V	G	+	2	0	ACAN	87201169	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.166000	0.31834	0.286000	0.22352	0.313000	0.20887	GGG		0.512	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		29	115	1	0	5.90632e-09	1	6.61508e-09	29	115				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685542	72685542	+	RNA	SNP	G	G	A	rs2539086		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:72685542G>A	ENST00000425256.1	-	0	116									GTF2I repeat domain containing 2 pseudogene 1																		ACGTTACCATGACAAAAGCAG	0.463																																						ENST00000425256.1																			0																																																			0							g.chr7:72685542G>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72685542G>A								NR_002164.1						0	116	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.463	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	147	0	0	0	1	0	4	147				
SPATA31D1	389763	broad.mit.edu	37	9	84608504	84608504	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr9:84608504C>A	ENST00000344803.2	+	4	3166	c.3119C>A	c.(3118-3120)aCa>aAa	p.T1040K		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1040					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTAGATTCAACAAGCTCATTC	0.438																																						ENST00000344803.2																			0											c.(3118-3120)aCa>aAa		SPATA31 subfamily D, member 1							155.0	160.0	158.0					9																	84608504		1867	4100	5967	SO:0001583	missense	389763							g.chr9:84608504C>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3119C>A	9.37:g.84608504C>A	ENSP00000341988:p.Thr1040Lys						p.T1040K	NM_001001670.2	NP_001001670.1					4	3166	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.3119C>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	0.900	-0.722705	0.03158	.	.	ENSG00000214929	ENST00000344803	T	0.05382	3.45	1.36	0.416	0.16416	.	.	.	.	.	T	0.03520	0.0101	L	0.27053	0.805	0.09310	N	1	P	0.44344	0.833	B	0.37650	0.255	T	0.40040	-0.9584	9	0.18710	T	0.47	1.134	3.6935	0.08355	0.0:0.742:0.0:0.258	.	1040	Q6ZQQ2	F75D1_HUMAN	K	1040	ENSP00000341988:T1040K	ENSP00000341988:T1040K	T	+	2	0	FAM75D1	83798324	0.001000	0.12720	0.007000	0.13788	0.006000	0.05464	-0.486000	0.06513	0.169000	0.19679	-0.225000	0.12378	ACA		0.438	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		6	261	1	0	0.0293803	1	0.0310434	6	261				
HCN4	10021	broad.mit.edu	37	15	73616140	73616140	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr15:73616140G>A	ENST00000261917.3	-	8	3287	c.2294C>T	c.(2293-2295)gCc>gTc	p.A765V		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	765					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGTTGGGGTGGCAGAGGCAGC	0.647																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2293-2295)gCc>gTc		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							35.0	42.0	40.0					15																	73616140		2198	4296	6494	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616140G>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2294C>T	15.37:g.73616140G>A	ENSP00000261917:p.Ala765Val						p.A765V	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3287	-			765					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.2294C>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455303	0.26161	.	.	ENSG00000138622	ENST00000261917	T	0.40756	1.02	3.24	3.24	0.37175	.	.	.	.	.	T	0.23171	0.0560	N	0.05383	-0.06	0.36083	D	0.842936	B	0.21452	0.056	B	0.15870	0.014	T	0.16364	-1.0405	9	0.22706	T	0.39	.	14.2498	0.66011	0.0:0.0:1.0:0.0	.	765	Q9Y3Q4	HCN4_HUMAN	V	765	ENSP00000261917:A765V	ENSP00000261917:A765V	A	-	2	0	HCN4	71403193	0.997000	0.39634	0.641000	0.29422	0.428000	0.31595	3.592000	0.53993	1.642000	0.50584	0.305000	0.20034	GCC		0.647	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		11	58	0	0	0	1	0	11	58				
SPTBN2	6712	broad.mit.edu	37	11	66466131	66466131	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr11:66466131G>T	ENST00000533211.1	-	20	4324	c.3993C>A	c.(3991-3993)gaC>gaA	p.D1331E	SPTBN2_ENST00000529997.1_Missense_Mutation_p.D1331E|SPTBN2_ENST00000309996.2_Missense_Mutation_p.D1331E			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1331					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGTCCAGCCAGTCTTTGTTGG	0.617																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(3991-3993)gaC>gaA		spectrin, beta, non-erythrocytic 2							93.0	87.0	89.0					11																	66466131		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66466131G>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3993C>A	11.37:g.66466131G>T	ENSP00000432568:p.Asp1331Glu					SPTBN2_ENST00000309996.2_Missense_Mutation_p.D1331E|SPTBN2_ENST00000529997.1_Missense_Mutation_p.D1331E	p.D1331E			O15020	SPTN2_HUMAN			20	4324	-			1331					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.3993C>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	9.660	1.144012	0.21205	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.33216	1.42;1.42;1.42	4.72	2.77	0.32553	.	0.000000	0.85682	D	0.000000	T	0.13586	0.0329	N	0.11560	0.145	0.50313	D	0.999867	B	0.15930	0.015	B	0.22601	0.04	T	0.12502	-1.0545	10	0.02654	T	1	.	10.7158	0.46011	0.166:0.0:0.834:0.0	.	1331	O15020	SPTN2_HUMAN	E	1331	ENSP00000432568:D1331E;ENSP00000311489:D1331E;ENSP00000433593:D1331E	ENSP00000311489:D1331E	D	-	3	2	SPTBN2	66222707	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.394000	0.20834	1.182000	0.42928	0.655000	0.94253	GAC		0.617	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		4	168	1	0	1	1	1	4	168				
PHF13	148479	broad.mit.edu	37	1	6681634	6681634	+	Silent	SNP	C	C	G			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:6681634C>G	ENST00000377648.4	+	4	1222	c.840C>G	c.(838-840)tcC>tcG	p.S280S	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	280					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GCCGGGACTCCAAGTTTGACA	0.577																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(838-840)tcC>tcG		PHD finger protein 13							65.0	59.0	61.0					1																	6681634		2203	4300	6503	SO:0001819	synonymous_variant	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6681634C>G	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.840C>G	1.37:g.6681634C>G						PHF13_ENST00000495385.1_Intron	p.S280S	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	4	1222	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	280					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Silent	SNP	ENST00000377648.4	37	c.840C>G	CCDS85.1																																																																																				0.577	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		16	68	0	0	0	1	0	16	68				
PLEKHM1	9842	broad.mit.edu	37	17	43545910	43545910	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr17:43545910C>T	ENST00000430334.3	-	5	1106	c.973G>A	c.(973-975)Gga>Aga	p.G325R	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.G236R|RN7SL730P_ENST00000583727.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	325					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TGGCTCAGTCCGTTGGTTGGC	0.517																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(973-975)Gga>Aga		pleckstrin homology domain containing, family M (with RUN domain) member 1							140.0	138.0	139.0					17																	43545910		2203	4300	6503	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43545910C>T	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.973G>A	17.37:g.43545910C>T	ENSP00000389913:p.Gly325Arg					PLEKHM1_ENST00000421073.2_Missense_Mutation_p.G236R	p.G325R	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			5	1106	-	Renal(3;0.0405)		325					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.973G>A	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314875	0.40996	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.64991	-0.13;-0.13	4.69	-2.23	0.06930	.	0.895887	0.09537	N	0.788764	T	0.45196	0.1330	L	0.39397	1.21	0.09310	N	1	B;B	0.29805	0.257;0.047	B;B	0.26202	0.067;0.01	T	0.31503	-0.9941	10	0.39692	T	0.17	.	4.8195	0.13383	0.0:0.3538:0.1631:0.4831	.	236;325	F8W648;Q9Y4G2	.;PKHM1_HUMAN	R	325;274;236	ENSP00000389913:G325R;ENSP00000414352:G236R	ENSP00000414352:G236R	G	-	1	0	PLEKHM1	40901693	0.000000	0.05858	0.007000	0.13788	0.375000	0.29983	-2.485000	0.00979	-0.201000	0.10284	0.655000	0.94253	GGA		0.517	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		9	65	0	0	0	1	0	9	65				
UGGT1	56886	broad.mit.edu	37	2	128917277	128917277	+	Missense_Mutation	SNP	G	G	A	rs141470228	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:128917277G>A	ENST00000259253.6	+	23	2592	c.2545G>A	c.(2545-2547)Gcg>Acg	p.A849T	UGGT1_ENST00000375990.3_Missense_Mutation_p.A825T	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	849					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCTGACATTGCGGAGTTCTC	0.567																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2473-2475)Gcg>Acg		UDP-glucose glycoprotein glucosyltransferase 1							71.0	74.0	73.0					2																	128917277		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128917277G>A	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2545G>A	2.37:g.128917277G>A	ENSP00000259253:p.Ala849Thr					UGGT1_ENST00000259253.6_Missense_Mutation_p.A849T	p.A825T			Q9NYU2	UGGG1_HUMAN			23	2876	+			849					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.2473G>A	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170510	0.38315	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08102	3.14;3.13	5.4	-2.16	0.07080	.	1.070000	0.07070	N	0.835266	T	0.05227	0.0139	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46190	-0.9209	9	.	.	.	.	7.9592	0.30062	0.5569:0.0:0.3295:0.1136	.	825;849	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	T	825;849	ENSP00000365158:A825T;ENSP00000259253:A849T	.	A	+	1	0	UGGT1	128633747	0.000000	0.05858	0.000000	0.03702	0.686000	0.39977	-0.046000	0.11983	-0.411000	0.07530	0.557000	0.71058	GCG		0.567	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		16	69	0	0	0	1	0	16	69				
MPPED1	758	broad.mit.edu	37	22	43821094	43821094	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr22:43821094G>A	ENST00000417669.2	+	2	547	c.103G>A	c.(103-105)Gct>Act	p.A35T	MPPED1_ENST00000538182.1_Missense_Mutation_p.A68T|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.A35T|MPPED1_ENST00000443721.1_Missense_Mutation_p.A35T|MPPED1_ENST00000414469.2_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	35							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CGTGATGGCCGCTCGGCGGCA	0.662																																						ENST00000417669.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(103-105)Gct>Act		metallophosphoesterase domain containing 1							33.0	38.0	37.0					22																	43821094		2141	4274	6415	SO:0001583	missense	758						hydrolase activity	g.chr22:43821094G>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.103G>A	22.37:g.43821094G>A	ENSP00000388137:p.Ala35Thr					MPPED1_ENST00000542779.1_Missense_Mutation_p.A35T|MPPED1_ENST00000538182.1_Missense_Mutation_p.A68T|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000443721.1_Missense_Mutation_p.A35T	p.A35T			O15442	MPPD1_HUMAN			2	547	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	35					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.103G>A	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618424	0.46736	.	.	ENSG00000186732	ENST00000417669;ENST00000334209;ENST00000443721;ENST00000545165;ENST00000447567;ENST00000542779;ENST00000538182	T;T;T;T;T	0.52754	0.74;0.65;0.74;0.74;0.82	5.01	2.83	0.33086	.	0.523184	0.19783	N	0.106174	T	0.26629	0.0651	N	0.19112	0.55	0.80722	D	1	D;P	0.54772	0.968;0.913	B;B	0.36378	0.223;0.174	T	0.02417	-1.1162	10	0.40728	T	0.16	-6.6122	9.811	0.40824	0.0:0.147:0.6895:0.1635	.	68;35	B7Z2S9;O15442	.;MPPD1_HUMAN	T	35;35;35;13;35;35;68	ENSP00000388137:A35T;ENSP00000335568:A35T;ENSP00000400686:A35T;ENSP00000444532:A35T;ENSP00000438335:A68T	ENSP00000335568:A35T	A	+	1	0	MPPED1	42151038	0.998000	0.40836	0.832000	0.32986	0.952000	0.60782	4.057000	0.57455	0.449000	0.26747	0.655000	0.94253	GCT		0.662	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		3	59	0	0	0	1	0	3	59				
PHF6	84295	broad.mit.edu	37	X	133527974	133527974	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:133527974A>G	ENST00000332070.3	+	5	612	c.410A>G	c.(409-411)aAc>aGc	p.N137S	PHF6_ENST00000416404.2_Missense_Mutation_p.N103S|PHF6_ENST00000370803.3_Missense_Mutation_p.N137S|PHF6_ENST00000370799.1_Missense_Mutation_p.N137S|PHF6_ENST00000394292.1_Missense_Mutation_p.N137S|PHF6_ENST00000370800.4_Missense_Mutation_p.N137S	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					ACTGCACATAACTCCGAAGGT	0.294			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	ENST00000332070.3				Rec	yes		X	Xq26.3	84295	"""F, N, Splice, Mis"""	PHD finger protein 6			L			ETP ALL		0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103						c.(409-411)aAc>aGc		PHD finger protein 6							81.0	75.0	77.0					X																	133527974		2203	4300	6503	SO:0001583	missense	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133527974A>G	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.410A>G	X.37:g.133527974A>G	ENSP00000329097:p.Asn137Ser					PHF6_ENST00000370800.4_Missense_Mutation_p.N137S|PHF6_ENST00000416404.2_Missense_Mutation_p.N103S|PHF6_ENST00000370799.1_Missense_Mutation_p.N137S|PHF6_ENST00000394292.1_Missense_Mutation_p.N137S|PHF6_ENST00000370803.3_Missense_Mutation_p.N137S	p.N137S	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN			5	612	+	Acute lymphoblastic leukemia(192;0.000127)		137					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	c.410A>G	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091455	0.36952	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.0;-2.6;-1.64;-2.06	4.92	4.92	0.64577	Zinc finger, RING/FYVE/PHD-type (1);	0.130328	0.64402	D	0.000002	T	0.80706	0.4674	N	0.24115	0.695	0.39495	D	0.968118	B;B;B;B;P	0.37500	0.092;0.072;0.231;0.231;0.597	B;B;B;B;B	0.33960	0.037;0.023;0.037;0.037;0.173	T	0.78871	-0.2033	10	0.08837	T	0.75	-17.9077	11.6282	0.51158	1.0:0.0:0.0:0.0	.	103;137;137;137;137	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	S	137;137;137;137;103;137	ENSP00000359839:N137S;ENSP00000329097:N137S;ENSP00000377831:N137S;ENSP00000359835:N137S;ENSP00000394480:N103S;ENSP00000359836:N137S	ENSP00000329097:N137S	N	+	2	0	PHF6	133355640	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	4.782000	0.62396	1.745000	0.51790	0.376000	0.23039	AAC		0.294	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		4	70	0	0	0	1	0	4	70				
WDR27	253769	broad.mit.edu	37	6	170052047	170052047	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:170052047G>A	ENST00000448612.1	-	14	1569	c.1460C>T	c.(1459-1461)tCt>tTt	p.S487F	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.S360F|WDR27_ENST00000333572.6_Missense_Mutation_p.S487F	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	457						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGCATAACCAGATGACCTAAC	0.428																																						ENST00000333572.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(1459-1461)tCt>tTt		WD repeat domain 27							93.0	93.0	93.0					6																	170052047		2012	4172	6184	SO:0001583	missense	253769							g.chr6:170052047G>A	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1460C>T	6.37:g.170052047G>A	ENSP00000416289:p.Ser487Phe					WDR27_ENST00000448612.1_Missense_Mutation_p.S487F|WDR27_ENST00000423258.1_Missense_Mutation_p.S360F|WDR27_ENST00000546525.1_5'UTR	p.S487F			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	14	1979	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	457					A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.1460C>T	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463885	0.63513	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.35048	1.37;1.66;1.33	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000008	T	0.49081	0.1536	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.53823	-0.8384	10	0.87932	D	0	-23.3534	14.6485	0.68777	0.0:0.0:1.0:0.0	.	487;360;487	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	F	487;487;360	ENSP00000416289:S487F;ENSP00000330265:S487F;ENSP00000397869:S360F	ENSP00000330265:S487F	S	-	2	0	WDR27	169793972	0.997000	0.39634	0.045000	0.18777	0.013000	0.08279	5.339000	0.65953	2.237000	0.73441	0.563000	0.77884	TCT		0.428	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		8	28	0	0	0	1	0	8	28				
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_In_Frame_Del_p.I66del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	94					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(265-270)ttc>t		vesicle-associated membrane protein 3																																				SO:0001651	inframe_deletion	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7838212_7838214delTCA	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.266_268delTCA	1.37:g.7838221_7838223delTCA	ENSP00000054666:p.Ile94del					VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	p.FI89del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	381_383	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	89					Q9BRV4	In_Frame_Del	DEL	ENST00000054666.6	37	c.266_268delTCA	CCDS88.1																																																																																				0.365	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		8	270						8	270	---	---	---	---
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	-	T	rs570205705		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:12785492_12785493insT	ENST00000359318.5	+	4	787_788	c.582_583insT	c.(583-585)tgtfs	p.C195fs	AADACL3_ENST00000332530.3_Frame_Shift_Ins_p.C125fs	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	195			C -> F (in dbSNP:rs7513079). {ECO:0000269|PubMed:14702039}.				hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(370-375)tagtttfs		arylacetamide deacetylase-like 3																																				SO:0001589	frameshift_variant	126767						hydrolase activity	g.chr1:12785492_12785493insT		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.583dupT	1.37:g.12785493_12785493dupT	ENSP00000352268:p.Cys195fs					AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs	p.*F124fs	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	598_599	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	194					B3KXR9|Q5VUY1	Frame_Shift_Ins	INS	ENST00000359318.5	37	c.372_373insT	CCDS41253.1																																																																																				0.455	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		7	215						7	215	---	---	---	---
CLDN19	149461	broad.mit.edu	37	1	43204166	43204166	+	Missense_Mutation	SNP	G	G	A	rs200640147		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:43204166G>A	ENST00000296387.1	-	2	504	c.314C>T	c.(313-315)aCg>aTg	p.T105M	CLDN19_ENST00000539749.1_Missense_Mutation_p.T105M|CLDN19_ENST00000372539.3_Missense_Mutation_p.T105M	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	105					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCCACCCGCGTACACTTCAT	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15876	0.0		0.0	False		,,,				2504	0.0					ENST00000539749.1																			0				breast(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(313-315)aCg>aTg		claudin 19							106.0	87.0	94.0					1																	43204166		2203	4300	6503	SO:0001583	missense	149461				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding	g.chr1:43204166G>A	AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"""Claudins"""	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.314C>T	1.37:g.43204166G>A	ENSP00000296387:p.Thr105Met					CLDN19_ENST00000296387.1_Missense_Mutation_p.T105M|CLDN19_ENST00000372539.3_Missense_Mutation_p.T105M	p.T105M	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN			2	504	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	105					B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	ENST00000296387.1	37	c.314C>T	CCDS471.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.1	3.940825	0.73557	.	.	ENSG00000164007	ENST00000296387;ENST00000539749;ENST00000372539	D;D;D	0.88201	-2.35;-2.35;-2.35	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.94235	0.8149	M	0.87097	2.86	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.995	P;P;P	0.62435	0.897;0.74;0.902	D	0.94552	0.7754	10	0.49607	T	0.09	.	15.5483	0.76126	0.0:0.0:1.0:0.0	.	105;105;105	F5H5P9;Q8N6F1-2;Q8N6F1	.;.;CLD19_HUMAN	M	105	ENSP00000296387:T105M;ENSP00000443229:T105M;ENSP00000361617:T105M	ENSP00000296387:T105M	T	-	2	0	CLDN19	42976753	1.000000	0.71417	0.976000	0.42696	0.766000	0.43426	9.599000	0.98280	2.266000	0.75297	0.313000	0.20887	ACG		0.637	CLDN19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019788.1	NM_148960		3	46	0	0	0	1	0	3	46				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	55	0	0	0	1	0	4	55				
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2734-2736)del		trichohyalin																																				SO:0001651	inframe_deletion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082957_152082959delCTC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2734_2736delGAG	1.37:g.152082966_152082968delCTC	ENSP00000357794:p.Glu912del						p.E912del	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2733_2735	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		912			10 X 30 AA tandem repeats.		Q5VUI3	In_Frame_Del	DEL	ENST00000368804.1	37	c.2734_2736delGAG	CCDS41396.1																																																																																				0.586	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		9	208						9	208	---	---	---	---
PROX1-AS1	100505832	broad.mit.edu	37	1	214090692	214090694	+	RNA	DEL	TCC	TCC	-	rs375970155		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:214090692_214090694delTCC	ENST00000433082.2	-	0	195				PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000601854.1_RNA|PROX1-AS1_ENST00000598105.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000601335.1_RNA|PROX1-AS1_ENST00000601744.1_RNA					PROX1 antisense RNA 1																		ctccttctgttcctcctcctcct	0.488																																						ENST00000433082.2																			0																																																			0							g.chr1:214090692_214090694delTCC	AK092251		1q32.3	2012-10-12	2012-08-15		ENSG00000230461	ENSG00000230461		"""Long non-coding RNAs"""	43656	non-coding RNA	RNA, long non-coding			"""PROX1 antisense RNA 1 (non-protein coding)"""				Standard	XR_248694		Approved				OTTHUMG00000036947		1.37:g.214090701_214090703delTCC						PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000598105.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000601854.1_RNA|PROX1-AS1_ENST00000601335.1_RNA|PROX1-AS1_ENST00000601744.1_RNA								0	195	-									RNA	DEL	ENST00000433082.2	37																																																																																						0.488	PROX1-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000089728.2	NR_037850		4	5						4	5	---	---	---	---
SIAH2	6478	broad.mit.edu	37	3	150480449	150480451	+	In_Frame_Del	DEL	CCG	CCG	-	rs569310827		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr3:150480449_150480451delCCG	ENST00000312960.3	-	1	713_715	c.186_188delCGG	c.(184-189)ggcggg>ggg	p.62_63GG>G	SIAH2_ENST00000472885.1_Intron|SIAH2-AS1_ENST00000461943.1_RNA	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	62					axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			cgggccggccccgccgccgccgc	0.764																																						ENST00000312960.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16						c.(184-189)ggg>gg		siah E3 ubiquitin protein ligase 2				31,18,2859		4,0,23,4,10,1413						1.9	1.0			6	73,0,6195		12,0,49,0,0,3073	no	codingComplex	SIAH2	NM_005067.5		16,0,72,4,10,4486	A1A1,A1A2,A1R,A2A2,A2R,RR		1.1646,1.685,1.3296				104,18,9054				SO:0001651	inframe_deletion	6478				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:150480449_150480451delCCG	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.186_188delCGG	3.37:g.150480458_150480460delCCG	ENSP00000322457:p.Gly63del					SIAH2_ENST00000472885.1_Intron	p.GG62del	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	713_715	-			62					O43270	In_Frame_Del	DEL	ENST00000312960.3	37	c.186_188delCGG	CCDS3152.1																																																																																				0.764	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		3	6						3	6	---	---	---	---
RP1-167F1.2	0	broad.mit.edu	37	6	19614330	19614359	+	RNA	DEL	ATAAATATATATATATATATATATATATAT	ATAAATATATATATATATATATATATATAT	-	rs139949355|rs368740888|rs375052253|rs3966683|rs61377276|rs113384050|rs2876560|rs142142795|rs57714797	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:19614330_19614359delATAAATATATATATATATATATATATATAT	ENST00000432171.2	-	0	366																											AGGTAGataaataaatatatatatatatatatatatatatatatatatat	0.326																																						ENST00000432171.2																			0																																																			0							g.chr6:19614330_19614359delATAAATATATATATATATATATATATATAT																													6.37:g.19614330_19614359delATAAATATATATATATATATATATATATAT														0	366	-									RNA	DEL	ENST00000432171.2	37																																																																																						0.326	RP1-167F1.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000039973.2			3	3						3	3	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87965029	87965030	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:87965029_87965030delAG	ENST00000369577.3	+	8	1725_1726	c.1682_1683delAG	c.(1681-1683)cagfs	p.Q561fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.Q556fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	561						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CGACATGCTCAGAAACATTACA	0.371																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(1681-1683)cfs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87965029_87965030delAG	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1682_1683delAG	6.37:g.87965029_87965030delAG	ENSP00000358590:p.Gln561fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.Q556fs	p.Q561fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1725_1726	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	561					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.1682_1683delAG	CCDS47457.1																																																																																				0.371	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		8	37						8	37	---	---	---	---
LOC101928940	101928940	broad.mit.edu	37	11	114239196	114239197	+	RNA	INS	-	-	C	rs71301679|rs145555504	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr11:114239196_114239197insC	ENST00000534904.2	-	0	304																											acatggtgagaccccccccgcc	0.579													CCCCCCCC|CCCCCCCC|CCCCCCCCC|insertion	1011	0.201877	0.0802	0.2867	5008	,	,		5103	0.2321		0.2237	False		,,,				2504	0.2526					ENST00000534904.2																			0																																																			0							g.chr11:114239196_114239197insC																													11.37:g.114239204_114239204dupC														0	304	-									RNA	INS	ENST00000534904.2	37																																																																																						0.579	RP11-64D24.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000398958.2			4	4						4	4	---	---	---	---
RP11-25I15.2	0	broad.mit.edu	37	12	43072603	43072603	+	lincRNA	DEL	T	T	-	rs372709498	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr12:43072603delT	ENST00000548764.1	+	0	465																											AGAACTCTGCttttttttttt	0.413													|||unknown(HR)	2143	0.427915	0.4357	0.4049	5008	,	,		16056	0.4028		0.4145	False		,,,				2504	0.4734					ENST00000548764.1																			0																																																			0							g.chr12:43072603delT																													12.37:g.43072603delT														0	465	+									RNA	DEL	ENST00000548764.1	37																																																																																						0.413	RP11-25I15.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000403636.1			2	4						2	4	---	---	---	---
RP11-114H23.1	0	broad.mit.edu	37	12	76249904	76249906	+	lincRNA	DEL	GGT	GGT	-			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr12:76249904_76249906delGGT	ENST00000552856.1	-	0	295																											CTCCACATGAggtggtggtggtg	0.512																																						ENST00000552856.1																			0																																																			0							g.chr12:76249904_76249906delGGT																													12.37:g.76249913_76249915delGGT														0	295	-									RNA	DEL	ENST00000552856.1	37																																																																																						0.512	RP11-114H23.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000405775.2			6	2						6	2	---	---	---	---
LOC101928880	101928880	broad.mit.edu	37	16	88226895	88226897	+	lincRNA	DEL	TGG	TGG	-	rs62047004|rs144317349	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr16:88226895_88226897delTGG	ENST00000569362.1	+	0	0				RP11-863P13.2_ENST00000568587.1_lincRNA																							gtggtggagatggtggtggtggg	0.537														1183	0.236222	0.1301	0.2046	5008	,	,		13630	0.4415		0.2336	False		,,,				2504	0.1933					ENST00000568587.1																			0																																																			0							g.chr16:88226895_88226897delTGG																													16.37:g.88226904_88226906delTGG														0	91	-									RNA	DEL	ENST00000569362.1	37																																																																																						0.537	LA16c-444G7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430450.1			4	7						4	7	---	---	---	---
