#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
FOXD4	2298	broad.mit.edu	37	9	117891	117891	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr9:117891T>G	ENST00000382500.2	-	1	526	c.229A>C	c.(229-231)Agc>Cgc	p.S77R		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	77					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GAGGGGTCGCTCGGGCCGCCG	0.706																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(229-231)Agc>Cgc		forkhead box D4							38.0	63.0	55.0					9																	117891		2191	4290	6481	SO:0001583	missense	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117891T>G	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.229A>C	9.37:g.117891T>G	ENSP00000371940:p.Ser77Arg						p.S77R	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	526	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	77					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.229A>C	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.323347	0.24080	.	.	ENSG00000170122	ENST00000382500	D	0.95171	-3.63	2.31	1.09	0.20402	.	0.344964	0.20083	N	0.099620	D	0.85991	0.5826	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.75379	-0.3338	10	0.44086	T	0.13	.	5.4913	0.16777	0.0:0.2829:0.0:0.7171	.	77	Q12950	FOXD4_HUMAN	R	77	ENSP00000371940:S77R	ENSP00000371940:S77R	S	-	1	0	FOXD4	107891	0.000000	0.05858	0.003000	0.11579	0.111000	0.19643	-2.149000	0.01291	0.158000	0.19367	0.242000	0.17961	AGC		0.706	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		19	97	0	0	0	1	0	19	97				
OR4K2	390431	broad.mit.edu	37	14	20345254	20345254	+	Silent	SNP	C	C	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr14:20345254C>A	ENST00000298642.2	+	1	864	c.828C>A	c.(826-828)acC>acA	p.T276T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTTTATACCATCTTTACTC	0.358																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(826-828)acC>acA		olfactory receptor, family 4, subfamily K, member 2							131.0	134.0	133.0					14																	20345254		2203	4300	6503	SO:0001819	synonymous_variant	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345254C>A		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.828C>A	14.37:g.20345254C>A							p.T276T	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	864	+	all_cancers(95;0.00108)		276					B2RNK8|Q6IFA5	Silent	SNP	ENST00000298642.2	37	c.828C>A	CCDS32023.1																																																																																				0.358	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			16	93	1	0	3.52763e-06	1	4.01986e-06	16	93				
KCNG1	3755	broad.mit.edu	37	20	49626813	49626813	+	Silent	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr20:49626813G>A	ENST00000371571.4	-	2	348	c.63C>T	c.(61-63)gaC>gaT	p.D21D	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Silent_p.D21D	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	21					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.D21D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGAAGGAGGCGTCCGAGGTGC	0.672																																						ENST00000371571.4																			1	Substitution - coding silent(1)	p.D21D(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(61-63)gaC>gaT		potassium voltage-gated channel, subfamily G, member 1							33.0	34.0	34.0					20																	49626813		2187	4255	6442	SO:0001819	synonymous_variant	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626813G>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.63C>T	20.37:g.49626813G>A						KCNG1_ENST00000396017.3_Silent_p.D21D	p.D21D	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			2	348	-			21					A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	c.63C>T	CCDS13436.1																																																																																				0.672	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		6	29	0	0	0	1	0	6	29				
SLC26A9	115019	broad.mit.edu	37	1	205897099	205897099	+	Silent	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:205897099G>A	ENST00000367135.3	-	9	1145	c.1032C>T	c.(1030-1032)agC>agT	p.S344S	SLC26A9_ENST00000340781.4_Silent_p.S344S|SLC26A9_ENST00000367134.2_Silent_p.S344S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	344					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGATGACGTAGCTCACGATGG	0.632																																						ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(1030-1032)agC>agT		solute carrier family 26 (anion exchanger), member 9							96.0	81.0	86.0					1																	205897099		2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205897099G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1032C>T	1.37:g.205897099G>A						SLC26A9_ENST00000340781.4_Silent_p.S344S|SLC26A9_ENST00000367134.2_Silent_p.S344S	p.S344S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		9	1145	-	Breast(84;0.201)		344					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.1032C>T	CCDS30990.1																																																																																				0.632	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		10	73	0	0	0	1	0	10	73				
SDHAP1	255812	broad.mit.edu	37	3	195701278	195701278	+	RNA	SNP	C	C	T	rs200131790	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr3:195701278C>T	ENST00000427841.1	-	0	1546					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CAGGCCTGCACGACTCTGCGA	0.537																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195701278C>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701278C>T								NR_003264.2						0	1546	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.537	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	40	0	0	0	1	0	3	40				
DNAH11	8701	broad.mit.edu	37	7	21789848	21789848	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr7:21789848C>G	ENST00000409508.3	+	54	8837	c.8806C>G	c.(8806-8808)Cca>Gca	p.P2936A	DNAH11_ENST00000328843.6_Missense_Mutation_p.P2943A	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2943	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGAGAAATCCCAGATCTGTT	0.348									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(8827-8829)Cca>Gca		dynein, axonemal, heavy chain 11							64.0	62.0	63.0					7																	21789848		1854	4098	5952	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21789848C>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8806C>G	7.37:g.21789848C>G	ENSP00000475939:p.Pro2936Ala					DNAH11_ENST00000409508.3_Missense_Mutation_p.P2936A	p.P2943A			Q96DT5	DYH11_HUMAN			55	8858	+			2943			AAA 4 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.8827C>G		.	.	.	.	.	.	.	.	.	.	C	14.58	2.577674	0.45902	.	.	ENSG00000105877	ENST00000328843	T	0.58060	0.36	5.8	4.92	0.64577	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.104256	0.64402	D	0.000002	T	0.58793	0.2147	.	.	.	0.51767	D	0.999933	P	0.40431	0.717	P	0.47864	0.559	T	0.58165	-0.7684	9	0.38643	T	0.18	.	14.7154	0.69265	0.0:0.9306:0.0:0.0694	.	2943	Q96DT5	DYH11_HUMAN	A	2943	ENSP00000330671:P2943A	ENSP00000330671:P2943A	P	+	1	0	DNAH11	21756373	0.995000	0.38212	0.425000	0.26659	0.989000	0.77384	3.870000	0.56070	1.462000	0.47948	0.655000	0.94253	CCA		0.348	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		6	10	0	0	0	1	0	6	10				
ADAM32	203102	broad.mit.edu	37	8	39114706	39114706	+	Splice_Site	SNP	G	G	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr8:39114706G>T	ENST00000379907.4	+	19	2133	c.2006G>T	c.(2005-2007)gGt>gTt	p.G669V	ADAM32_ENST00000437682.2_Splice_Site_p.G570V|ADAM32_ENST00000519315.1_Splice_Site_p.G563V	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	669						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTGTTTTTAGGTTCAATCATG	0.308																																						ENST00000379907.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.e19-1		ADAM metallopeptidase domain 32							57.0	56.0	56.0					8																	39114706		1803	4067	5870	SO:0001630	splice_region_variant	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39114706G>T	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.2006-1G>T	8.37:g.39114706G>T						ADAM32_ENST00000519315.1_Splice_Site_p.G563_splice|ADAM32_ENST00000437682.2_Splice_Site_p.G570_splice	p.G669_splice	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		19	2133	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	669					Q8TC42	Splice_Site	SNP	ENST00000379907.4	37	c.2005_splice	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	G	2.202	-0.382850	0.04966	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.85955	-2.05;-2.05;-2.05	4.39	-5.24	0.02789	.	.	.	.	.	T	0.71829	0.3386	L	0.28400	0.85	0.23376	N	0.997804	P;B;B;B	0.41041	0.736;0.225;0.165;0.002	B;B;B;B	0.35550	0.205;0.047;0.043;0.004	T	0.61312	-0.7088	8	.	.	.	.	12.1001	0.53778	0.6067:0.0:0.3933:0.0	.	570;93;563;669	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	V	570;563;669	ENSP00000405978:G570V;ENSP00000429422:G563V;ENSP00000369238:G669V	.	G	+	2	0	ADAM32	39233863	0.003000	0.15002	0.001000	0.08648	0.011000	0.07611	-0.946000	0.03905	-1.185000	0.02716	-1.170000	0.01741	GGT		0.308	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004	Missense_Mutation	5	11	1	0	0.014758	1	0.015386	5	11				
PRSS3P2	154754	broad.mit.edu	37	7	142481888	142481888	+	RNA	SNP	T	T	C	rs375829895		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr7:142481888T>C	ENST00000603901.1	+	0	567					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGGGCTTCCTTGAGGGAGGCA	0.522																																						ENST00000603901.1																			0																																																			0							g.chr7:142481888T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481888T>C								NR_001296.3						0	567	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.522	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	53	0	0	0	1	0	3	53				
MCM6	4175	broad.mit.edu	37	2	136626216	136626216	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:136626216C>A	ENST00000264156.2	-	4	640	c.580G>T	c.(580-582)Gat>Tat	p.D194Y		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	194					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TTATTTGTATCCAGTAAGAAT	0.373																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(580-582)Gat>Tat		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						109.0	113.0	112.0					2																	136626216		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136626216C>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.580G>T	2.37:g.136626216C>A	ENSP00000264156:p.Asp194Tyr						p.D194Y	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	4	640	-			194					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.580G>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995369	0.74703	.	.	ENSG00000076003	ENST00000264156	T	0.04317	3.65	5.82	4.95	0.65309	Nucleic acid-binding, OB-fold-like (1);	0.084311	0.85682	D	0.000000	T	0.27731	0.0682	M	0.91510	3.215	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.23762	-1.0179	10	0.56958	D	0.05	-24.4536	15.2302	0.73381	0.0:0.9327:0.0:0.0673	.	194	Q14566	MCM6_HUMAN	Y	194	ENSP00000264156:D194Y	ENSP00000264156:D194Y	D	-	1	0	MCM6	136342686	1.000000	0.71417	0.990000	0.47175	0.826000	0.46750	5.904000	0.69886	1.483000	0.48342	-0.232000	0.12228	GAT		0.373	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		5	120	1	0	0.0215528	1	0.0220018	5	120				
MAX	4149	broad.mit.edu	37	14	65544633	65544633	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr14:65544633T>G	ENST00000358664.4	-	4	423	c.293A>C	c.(292-294)cAa>cCa	p.Q98P	MAX_ENST00000341653.2_Intron|MAX_ENST00000284165.6_Missense_Mutation_p.Q98P|MAX_ENST00000555419.1_Missense_Mutation_p.Q62P|MAX_ENST00000556979.1_Missense_Mutation_p.Q98P|MAX_ENST00000557277.1_Missense_Mutation_p.K7Q|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.Q89P|MAX_ENST00000358402.4_Missense_Mutation_p.Q89P|MAX_ENST00000556443.1_Missense_Mutation_p.Q89P|MAX_ENST00000557746.1_Missense_Mutation_p.Q89P	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	98	Leucine-zipper.				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)			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)		GTGCTCACCTTGCTGCTCCAG	0.557																																						ENST00000284165.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.(292-294)cAa>cCa		MYC associated factor X							102.0	83.0	89.0					14																	65544633		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.chr14:65544633T>G		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.293A>C	14.37:g.65544633T>G	ENSP00000351490:p.Gln98Pro					MAX_ENST00000556443.1_Missense_Mutation_p.Q89P|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.Q89P|MAX_ENST00000555419.1_Missense_Mutation_p.Q62P|MAX_ENST00000358664.4_Missense_Mutation_p.Q98P|MAX_ENST00000358402.4_Missense_Mutation_p.Q89P|MAX_ENST00000556979.1_Missense_Mutation_p.Q98P|MAX_ENST00000341653.2_Intron|MAX_ENST00000557746.1_Missense_Mutation_p.Q89P|MAX_ENST00000557277.1_Missense_Mutation_p.K7Q	p.Q98P	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	441	-			98			Leucine-zipper.		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.293A>C	CCDS9771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.04|18.04	3.534439|3.534439	0.64972|0.64972	.|.	.|.	ENSG00000125952|ENSG00000125952	ENST00000557277|ENST00000358402;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000556892;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443	D|D;D;D;D;D;D;D;D;D	0.84660|0.98400	-1.88|-4.91;-4.91;-4.91;-4.14;-2.93;-4.91;-4.91;-4.91;-4.91	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Helix-loop-helix DNA-binding (1);	.|0.050503	.|0.85682	.|D	.|0.000000	D|D	0.98686|0.98686	0.9559|0.9559	M|M	0.76727|0.76727	2.345|2.345	0.80722|0.80722	D|D	1|1	.|D;D;P;P;D	.|0.76494	.|0.999;0.998;0.832;0.932;0.999	.|D;D;P;P;D	.|0.74348	.|0.969;0.953;0.674;0.602;0.983	D|D	0.99814|0.99814	1.1043|1.1043	6|10	.|0.87932	.|D	.|0	-28.6549|-28.6549	14.2912|14.2912	0.66278|0.66278	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|98;89;89;98;98	.|Q14803;Q6V3B1;P61244-2;P61244;P61244-3	.|.;.;.;MAX_HUMAN;.	Q|P	7|89;98;98;62;25;105;98;89;89;89	ENSP00000450955:K7Q|ENSP00000351175:Q89P;ENSP00000284165:Q98P;ENSP00000351490:Q98P;ENSP00000452405:Q62P;ENSP00000452206:Q25P;ENSP00000452378:Q98P;ENSP00000452286:Q89P;ENSP00000452197:Q89P;ENSP00000450818:Q89P	.|ENSP00000284165:Q98P	K|Q	-|-	1|2	0|0	MAX|MAX	64614386|64614386	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.990000|7.990000	0.88215|0.88215	2.014000|2.014000	0.59158|0.59158	0.454000|0.454000	0.30748|0.30748	AAG|CAA		0.557	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		15	57	0	0	0	1	0	15	57				
TRPM2	7226	broad.mit.edu	37	21	45838405	45838405	+	Missense_Mutation	SNP	G	G	A	rs151101670	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr21:45838405G>A	ENST00000397928.1	+	22	3873	c.3428G>A	c.(3427-3429)cGg>cAg	p.R1143Q	TRPM2_ENST00000300481.9_Missense_Mutation_p.R1123Q|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1143Q|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1143Q|AP001065.2_ENST00000423310.1_RNA|AP001065.2_ENST00000456880.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1143					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAAAAGCAGCGGCCCGAGCAG	0.607																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3427-3429)cGg>cAg		transient receptor potential cation channel, subfamily M, member 2		G	GLN/ARG	0,4406		0,0,2203	133.0	138.0	137.0		3428	2.6	0.4	21	dbSNP_134	137	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TRPM2	NM_003307.3	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1143/1504	45838405	2,13004	2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45838405G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3428G>A	21.37:g.45838405G>A	ENSP00000381023:p.Arg1143Gln					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1123Q|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1143Q|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1143Q	p.R1143Q	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			22	3873	+			1143					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3428G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	9.838	1.190184	0.21954	0.0	2.33E-4	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.76186	1.58;1.58;1.58;-1.0	4.42	2.57	0.30868	.	0.454611	0.22570	N	0.058350	T	0.58906	0.2155	L	0.51422	1.61	0.09310	N	0.999992	B;B;B	0.30511	0.282;0.086;0.05	B;B;B	0.15052	0.012;0.008;0.012	T	0.42103	-0.9471	10	0.23891	T	0.37	-25.0096	4.7817	0.13206	0.2279:0.0:0.6048:0.1674	.	1143;929;1143	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	Q	1143;1143;1123;1143	ENSP00000300482:R1143Q;ENSP00000381023:R1143Q;ENSP00000300481:R1123Q;ENSP00000381026:R1143Q	ENSP00000300481:R1123Q	R	+	2	0	TRPM2	44662833	0.982000	0.34865	0.442000	0.26870	0.178000	0.23041	1.526000	0.35964	0.423000	0.26033	0.514000	0.50259	CGG		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		7	195	0	0	0	1	0	7	195				
PIGO	84720	broad.mit.edu	37	9	35093984	35093984	+	Silent	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr9:35093984G>A	ENST00000378617.3	-	4	1087	c.693C>T	c.(691-693)ttC>ttT	p.F231F	PIGO_ENST00000341666.3_Silent_p.F231F|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Silent_p.F231F|PIGO_ENST00000298004.5_Silent_p.F231F	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	231				DVLIAHF -> EVSNQHV (in Ref. 7; AAH01030). {ECO:0000305}.	C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCACACCCAGGAAGTGAGCAA	0.557																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(691-693)ttC>ttT		phosphatidylinositol glycan anchor biosynthesis, class O							116.0	98.0	105.0					9																	35093984		2203	4300	6503	SO:0001819	synonymous_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35093984G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.693C>T	9.37:g.35093984G>A						PIGO_ENST00000361778.2_Silent_p.F231F|PIGO_ENST00000341666.3_Silent_p.F231F|PIGO_ENST00000298004.5_Silent_p.F231F	p.F231F	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		4	1087	-			231	DVLIAHF -> EVSNQHV (in Ref. 7; AAH01030).				B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	c.693C>T	CCDS6575.1																																																																																				0.557	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		12	42	0	0	0	1	0	12	42				
NPR1	4881	broad.mit.edu	37	1	153655965	153655965	+	Silent	SNP	C	C	T	rs142090901	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:153655965C>T	ENST00000368680.3	+	6	1849	c.1377C>T	c.(1375-1377)aaC>aaT	p.N459N		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	459					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.N459N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCTTTGACAACGAAGACCCAG	0.587																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			1	Substitution - coding silent(1)	p.N459N(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1375-1377)aaC>aaT		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						124.0	117.0	119.0					1																	153655965		2203	4300	6503	SO:0001819	synonymous_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153655965C>T	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1377C>T	1.37:g.153655965C>T							p.N459N	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	1849	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		459					B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	c.1377C>T	CCDS1051.1																																																																																				0.587	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		25	110	0	0	0	1	0	25	110				
USP14	9097	broad.mit.edu	37	18	202880	202880	+	Splice_Site	SNP	C	C	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr18:202880C>T	ENST00000261601.7	+	11	968	c.877C>T	c.(877-879)Cga>Tga	p.R293*	USP14_ENST00000383589.2_Splice_Site_p.R247*|USP14_ENST00000582707.1_Splice_Site_p.R258*|USP14_ENST00000400266.3_Splice_Site_p.R282*	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	293	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTTTCTTAGCGACTTCAGGA	0.353																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.e11-1		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							71.0	69.0	70.0					18																	202880		2203	4300	6503	SO:0001630	splice_region_variant	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:202880C>T	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.877-1C>T	18.37:g.202880C>T						USP14_ENST00000582707.1_Splice_Site_p.R258_splice|USP14_ENST00000400266.3_Splice_Site_p.R282_splice|USP14_ENST00000383589.2_Splice_Site_p.R247_splice	p.R293_splice	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			11	968	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	293					J3QRZ5|Q53XY5	Splice_Site	SNP	ENST00000261601.7	37	c.876_splice	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.304658	0.81136	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	.	.	.	5.79	-1.86	0.07760	.	0.049144	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.1055	18.4773	0.90798	0.6019:0.3981:0.0:0.0	.	.	.	.	X	293;258;282	.	.	R	+	1	2	USP14	192880	1.000000	0.71417	0.993000	0.49108	0.942000	0.58702	1.731000	0.38135	-0.186000	0.10533	-0.309000	0.09137	CGA		0.353	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151	Nonsense_Mutation	9	43	0	0	0	1	0	9	43				
MYH8	4626	broad.mit.edu	37	17	10300214	10300214	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:10300214C>T	ENST00000403437.2	-	31	4362	c.4268G>A	c.(4267-4269)cGg>cAg	p.R1423Q	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1423					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTCTGGAGCCGCTGCTTCGT	0.488									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4267-4269)cGg>cAg		myosin, heavy chain 8, skeletal muscle, perinatal							98.0	91.0	93.0					17																	10300214		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10300214C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4268G>A	17.37:g.10300214C>T	ENSP00000384330:p.Arg1423Gln					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R1423Q	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			31	4362	-			1423					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4268G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024275	0.93462	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83250	-1.7	5.15	5.15	0.70609	Myosin tail (1);	0.000000	0.39759	U	0.001266	D	0.93612	0.7960	M	0.93720	3.45	0.50171	D	0.999852	D	0.89917	1.0	D	0.97110	1.0	D	0.94709	0.7890	10	0.66056	D	0.02	.	18.8216	0.92099	0.0:1.0:0.0:0.0	.	1423	P13535	MYH8_HUMAN	Q	1423	ENSP00000384330:R1423Q	ENSP00000252173:R1423Q	R	-	2	0	MYH8	10240939	0.997000	0.39634	0.998000	0.56505	0.697000	0.40408	7.525000	0.81892	2.687000	0.91594	0.650000	0.86243	CGG		0.488	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		19	43	0	0	0	1	0	19	43				
ST6GALNAC1	55808	broad.mit.edu	37	17	74625638	74625638	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:74625638G>A	ENST00000156626.7	-	2	486	c.287C>T	c.(286-288)aCc>aTc	p.T96I	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	96					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GTCTCCGGTGGTGTGGGCCTT	0.597																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(286-288)aCc>aTc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							144.0	128.0	134.0					17																	74625638		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74625638G>A	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.287C>T	17.37:g.74625638G>A	ENSP00000156626:p.Thr96Ile					ST6GALNAC1_ENST00000590878.1_5'UTR	p.T96I	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			2	486	-			96					Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.287C>T	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	G	9.971	1.225538	0.22457	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.21932	2.01;1.98	3.87	-7.75	0.01236	.	3.124410	0.01768	N	0.030970	T	0.11410	0.0278	N	0.19112	0.55	0.19775	N	0.99996	B	0.19331	0.035	B	0.12156	0.007	T	0.15492	-1.0435	10	0.35671	T	0.21	2.0738	5.7598	0.18192	0.1718:0.5633:0.1512:0.1136	.	96	Q9NSC7	SIA7A_HUMAN	I	96	ENSP00000156626:T96I;ENSP00000351991:T96I	ENSP00000156626:T96I	T	-	2	0	ST6GALNAC1	72137233	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.441000	0.02409	-1.610000	0.01583	-0.802000	0.03209	ACC		0.597	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		8	40	0	0	0	1	0	8	40				
LRRK2	120892	broad.mit.edu	37	12	40704242	40704242	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr12:40704242T>A	ENST00000298910.7	+	31	4385	c.4327T>A	c.(4327-4329)Tct>Act	p.S1443T		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1443	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGCTCGCGCTTCTTCTTCCCC	0.458																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(4327-4329)Tct>Act		leucine-rich repeat kinase 2							100.0	94.0	96.0					12																	40704242		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40704242T>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4327T>A	12.37:g.40704242T>A	ENSP00000298910:p.Ser1443Thr						p.S1443T	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			31	4385	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1443			Roc.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.4327T>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.162084	0.78226	.	.	ENSG00000188906	ENST00000298910	T	0.68025	-0.3	5.63	5.63	0.86233	ROC GTPase (1);Small GTP-binding protein domain (1);Mitochondrial Rho-like (1);	0.182130	0.50627	D	0.000116	T	0.66436	0.2789	L	0.48218	1.51	0.40645	D	0.981985	P;P	0.44627	0.705;0.839	B;P	0.45232	0.39;0.474	T	0.71481	-0.4580	10	0.66056	D	0.02	.	15.8391	0.78831	0.0:0.0:0.0:1.0	.	1443;1443	Q17RV3;Q5S007	.;LRRK2_HUMAN	T	1443	ENSP00000298910:S1443T	ENSP00000298910:S1443T	S	+	1	0	LRRK2	38990509	1.000000	0.71417	0.513000	0.27749	0.636000	0.38137	4.221000	0.58574	2.144000	0.66660	0.528000	0.53228	TCT		0.458	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		4	89	0	0	0	1	0	4	89				
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:12155757C>A	ENST00000547628.1	-	4	596	c.459G>T	c.(457-459)agG>agT	p.R153S	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.R200S|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAACCTGAATGCTT	0.423																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(598-600)agG>agT		zinc finger protein 878							139.0	150.0	146.0					19																	12155757		2165	4283	6448	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155757C>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.459G>T	19.37:g.12155757C>A	ENSP00000447931:p.Arg153Ser					CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.2_ENST00000476474.1_RNA	p.R200S			C9JN71	ZN878_HUMAN			5	599	-			153						Missense_Mutation	SNP	ENST00000547628.1	37	c.600G>T	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	c	0.119	-1.128634	0.01756	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.13901	2.55	1.25	-2.51	0.06365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.11427	0.14	0.09310	N	1	B	0.15141	0.012	B	0.18871	0.023	T	0.39840	-0.9594	9	0.02654	T	1	.	3.7988	0.08750	0.3827:0.4258:0.0:0.1915	.	153	C9JN71	ZN878_HUMAN	S	153;200	ENSP00000447931:R153S	ENSP00000447931:R153S	R	-	3	2	AC022415.4;ZNF878	12016757	0.000000	0.05858	0.001000	0.08648	0.669000	0.39330	-2.636000	0.00867	-1.408000	0.02040	0.299000	0.19835	AGG		0.423	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		5	159	1	0	0.00198382	1	0.00216016	5	159				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			36	50	0	0	0	1	0	36	50				
MUC5B	727897	broad.mit.edu	37	11	1269703	1269703	+	Missense_Mutation	SNP	G	G	A	rs375778294		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr11:1269703G>A	ENST00000529681.1	+	31	11651	c.11593G>A	c.(11593-11595)Gtg>Atg	p.V3865M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.V3868M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3865	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACTACCAAAGTGCCGACTAC	0.642																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11602-11604)Gtg>Atg		mucin 5B, oligomeric mucus/gel-forming		G	MET/VAL	1,4177		0,1,2088	115.0	136.0	129.0		11593	0.1	0.0	11		129	1,8401		0,1,4200	no	missense	MUC5B	NM_002458.2	21	0,2,6288	AA,AG,GG		0.0119,0.0239,0.0159	possibly-damaging	3865/5763	1269703	2,12578	2089	4201	6290	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269703G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11593G>A	11.37:g.1269703G>A	ENSP00000436812:p.Val3865Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.V3865M|RP11-532E4.2_ENST00000532061.2_RNA	p.V3868M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11660	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3865			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11602G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	1.628	-0.519644	0.04171	2.39E-4	1.19E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19532	2.14;2.33	0.118	0.118	0.14667	.	.	.	.	.	T	0.24851	0.0603	M	0.62723	1.935	0.09310	N	1	P;P	0.50156	0.932;0.932	P;P	0.47162	0.54;0.54	T	0.14392	-1.0474	9	0.87932	D	0	.	6.011	0.19575	5.0E-4:0.0:0.9995:0.0	.	4393;3868	A7Y9J9;E9PBJ0	.;.	M	3865;3868;3809;3770	ENSP00000436812:V3865M;ENSP00000415793:V3868M	ENSP00000343037:V3809M	V	+	1	0	MUC5B	1226279	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.714000	0.05002	0.191000	0.20236	0.194000	0.17425	GTG		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		18	131	0	0	0	1	0	18	131				
FBXO18	84893	broad.mit.edu	37	10	5948527	5948527	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr10:5948527G>T	ENST00000362091.4	+	3	800	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.V280L|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	229					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CTTCCTCCCGGTGGAAGACCT	0.567																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(838-840)Gtg>Ttg		F-box protein, helicase, 18							82.0	72.0	75.0					10																	5948527		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5948527G>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.685G>T	10.37:g.5948527G>T	ENSP00000355415:p.Val229Leu					FBXO18_ENST00000362091.4_Missense_Mutation_p.V229L|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR	p.V280L	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			4	942	+			229					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.838G>T	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457800	0.63401	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	T;T	0.54279	0.58;0.58	5.69	4.6	0.57074	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.111892	0.64402	D	0.000012	T	0.40372	0.1114	L	0.28054	0.825	0.80722	D	1	P;B;B	0.40230	0.708;0.267;0.267	B;B;B	0.36608	0.147;0.229;0.229	T	0.45629	-0.9248	10	0.56958	D	0.05	-23.8006	15.2652	0.73654	0.0796:0.0:0.9204:0.0	.	280;229;155	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	L	229;280	ENSP00000355415:V229L;ENSP00000369335:V280L	ENSP00000355415:V229L	V	+	1	0	FBXO18	5988533	1.000000	0.71417	0.979000	0.43373	0.865000	0.49528	4.451000	0.60047	2.678000	0.91216	0.655000	0.94253	GTG		0.567	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		29	95	1	0	5.90632e-09	1	6.89071e-09	29	95				
PEF1	553115	broad.mit.edu	37	1	32101082	32101082	+	Silent	SNP	C	C	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:32101082C>T	ENST00000373703.4	-	2	88	c.66G>A	c.(64-66)ccG>ccA	p.P22P	PEF1_ENST00000492061.1_5'UTR|PEF1_ENST00000440872.2_Silent_p.P22P	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	22	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				proteolysis (GO:0006508)|response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|poly(A) RNA binding (GO:0044822)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		AGTAGCTACCCGGAGGGGCTC	0.597																																						ENST00000373703.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7						c.(64-66)ccG>ccA		penta-EF-hand domain containing 1							21.0	22.0	22.0					1																	32101082		2198	4292	6490	SO:0001819	synonymous_variant	553115				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity	g.chr1:32101082C>T		CCDS345.1	1p34	2013-01-10			ENSG00000162517	ENSG00000162517		"""EF-hand domain containing"""	30009	protein-coding gene	gene with protein product	"""peflin"""	610033				10486255, 11883899	Standard	NM_012392		Approved	PEF1A	uc001bth.2	Q9UBV8	OTTHUMG00000003877	ENST00000373703.4:c.66G>A	1.37:g.32101082C>T						PEF1_ENST00000440872.2_Silent_p.P22P|PEF1_ENST00000492061.1_5'UTR	p.P22P	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0546)	2	88	-		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)	22			9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.			Silent	SNP	ENST00000373703.4	37	c.66G>A	CCDS345.1																																																																																				0.597	PEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011046.1	NM_012392		3	12	0	0	0	1	0	3	12				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	90	0	0	0	1	0	3	90				
SDHAP1	255812	broad.mit.edu	37	3	195701285	195701285	+	RNA	SNP	G	G	T	rs201085786	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr3:195701285G>T	ENST00000427841.1	-	0	1539					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GCACGACTCTGCGATGCTCAG	0.537																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195701285G>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701285G>T								NR_003264.2						0	1539	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.537	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	42	1	0	0.335167	1	0.335167	3	42				
LATS2	26524	broad.mit.edu	37	13	21549240	21549240	+	Silent	SNP	G	G	A	rs530420148		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr13:21549240G>A	ENST00000382592.4	-	8	3441	c.3036C>T	c.(3034-3036)aaC>aaT	p.N1012N	LATS2_ENST00000542899.1_Silent_p.N1012N	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGCTGGCATCGTTCCAAGGGC	0.557																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(3034-3036)aaC>aaT		large tumor suppressor kinase 2							241.0	216.0	224.0					13																	21549240		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21549240G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.3036C>T	13.37:g.21549240G>A						LATS2_ENST00000542899.1_Silent_p.N1012N	p.N1012N	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	8	3441	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	1012			AGC-kinase C-terminal.			Silent	SNP	ENST00000382592.4	37	c.3036C>T	CCDS9294.1																																																																																				0.557	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			47	135	0	0	0	1	0	47	135				
PDGFA	5154	broad.mit.edu	37	7	540795	540795	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr7:540795C>T	ENST00000354513.5	-	5	930	c.538G>A	c.(538-540)Gcg>Acg	p.A180T	PDGFA_ENST00000402802.3_Missense_Mutation_p.A180T	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	180					actin cytoskeleton organization (GO:0030036)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell projection assembly (GO:0030031)|cell-cell signaling (GO:0007267)|embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|negative chemotaxis (GO:0050919)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling (GO:0060683)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of smooth muscle cell migration (GO:0014910)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|microvillus (GO:0005902)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|growth factor activity (GO:0008083)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CTTGTGGTCGCGCAGGCGCAC	0.542																																						ENST00000402802.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(538-540)Gcg>Acg		platelet-derived growth factor alpha polypeptide							253.0	234.0	241.0					7																	540795		2203	4296	6499	SO:0001583	missense	0				actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	g.chr7:540795C>T		CCDS34578.1, CCDS47524.1	7p22	2008-07-18			ENSG00000197461	ENSG00000197461			8799	protein-coding gene	gene with protein product	"""PDGF A-chain"", ""platelet-derived growth factor alpha chain"""	173430				1505216, 2536956	Standard	NM_002607		Approved	PDGF1, PDGF-A	uc003sir.3	P04085	OTTHUMG00000151412	ENST00000354513.5:c.538G>A	7.37:g.540795C>T	ENSP00000346508:p.Ala180Thr					PDGFA_ENST00000354513.5_Missense_Mutation_p.A180T	p.A180T	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)	5	945	-		Ovarian(82;0.0112)	180					B5BU73	Missense_Mutation	SNP	ENST00000354513.5	37	c.538G>A	CCDS34578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.040|1.040	-0.679187|-0.679187	0.03378|0.03378	.|.	.|.	ENSG00000197461|ENSG00000197461	ENST00000402802;ENST00000354513|ENST00000400761	T;T|.	0.40756|.	1.04;1.02|.	4.98|4.98	-4.8|-4.8	0.03190|0.03190	Platelet-derived growth factor (PDGF) (2);|.	0.216928|.	0.46758|.	N|.	0.000280|.	T|T	0.13072|0.13072	0.0317|0.0317	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B;B|.	0.24618|.	0.107;0.001;0.002|.	B;B;B|.	0.10450|.	0.005;0.002;0.002|.	T|T	0.29971|0.29971	-0.9994|-0.9994	10|5	0.12766|.	T|.	0.61|.	-2.7699|-2.7699	7.4683|7.4683	0.27334|0.27334	0.0:0.4855:0.1302:0.3843|0.0:0.4855:0.1302:0.3843	.|.	194;180;180|.	Q32M96;P04085-2;P04085|.	.;.;PDGFA_HUMAN|.	T|H	180|186	ENSP00000383889:A180T;ENSP00000346508:A180T|.	ENSP00000346508:A180T|.	A|R	-|-	1|2	0|0	PDGFA|PDGFA	507321|507321	0.937000|0.937000	0.31787|0.31787	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	0.559000|0.559000	0.23485|0.23485	-1.237000|-1.237000	0.02539|0.02539	-0.302000|-0.302000	0.09304|0.09304	GCG|CGC		0.542	PDGFA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322534.1			14	211	0	0	0	1	0	14	211				
CD244	51744	broad.mit.edu	37	1	160811091	160811091	+	Silent	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:160811091G>A	ENST00000368033.3	-	3	661	c.579C>T	c.(577-579)ggC>ggT	p.G193G	CD244_ENST00000481677.1_5'Flank|CD244_ENST00000322302.7_Intron|CD244_ENST00000368034.4_Silent_p.G188G|CD244_ENST00000368032.2_Silent_p.G188G			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	193	Ig-like 2.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTGTGAGTGCCATTAATGT	0.517																																						ENST00000368034.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18						c.(562-564)ggC>ggT		CD244 molecule, natural killer cell receptor 2B4							251.0	194.0	213.0					1																	160811091		2203	4300	6503	SO:0001819	synonymous_variant	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160811091G>A	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.579C>T	1.37:g.160811091G>A						CD244_ENST00000368032.2_Silent_p.G188G|CD244_ENST00000322302.7_Intron|CD244_ENST00000368033.3_Silent_p.G193G	p.G188G	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	741	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		193			Ig-like 2.		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Silent	SNP	ENST00000368033.3	37	c.564C>T	CCDS53399.1																																																																																				0.517	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		28	123	0	0	0	1	0	28	123				
CD163L1	283316	broad.mit.edu	37	12	7586119	7586119	+	Missense_Mutation	SNP	C	C	A	rs146684411	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr12:7586119C>A	ENST00000313599.3	-	3	353	c.296G>T	c.(295-297)cGt>cTt	p.R99L	CD163L1_ENST00000416109.2_Missense_Mutation_p.R99L|CD163L1_ENST00000396630.1_Missense_Mutation_p.R99L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	99	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R99H(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGTCCAAAACGAAACATGGC	0.478																																						ENST00000313599.3																			1	Substitution - Missense(1)	p.R99H(1)	ovary(1)	breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(295-297)cGt>cTt		CD163 molecule-like 1							120.0	95.0	104.0					12																	7586119		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7586119C>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.296G>T	12.37:g.7586119C>A	ENSP00000315945:p.Arg99Leu					CD163L1_ENST00000396630.1_Missense_Mutation_p.R99L|CD163L1_ENST00000416109.2_Missense_Mutation_p.R99L	p.R99L			Q9NR16	C163B_HUMAN			3	353	-			99			SRCR 1.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.296G>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.634831	0.00806	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000543276	T;T;T;T	0.34667	1.35;1.35;1.35;3.49	1.5	-0.628	0.11537	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.179770	0.03610	U	0.234674	T	0.23766	0.0575	N	0.17723	0.515	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.17098	0.017;0.017	T	0.16482	-1.0401	10	0.21540	T	0.41	.	6.7663	0.23568	0.0:0.5433:0.0:0.4567	.	99;99	E7EVK4;Q9NR16	.;C163B_HUMAN	L	99;99;99;3	ENSP00000315945:R99L;ENSP00000393474:R99L;ENSP00000379871:R99L;ENSP00000442328:R3L	ENSP00000315945:R99L	R	-	2	0	CD163L1	7477386	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.234000	0.09028	-0.635000	0.05531	-1.478000	0.00992	CGT		0.478	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		8	93	1	0	0.000978159	1	0.00108931	8	93				
DCHS1	8642	broad.mit.edu	37	11	6653011	6653011	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr11:6653011G>A	ENST00000299441.3	-	7	3922	c.3511C>T	c.(3511-3513)Cgt>Tgt	p.R1171C	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1171	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGCTCACGGTCCAGGGTT	0.577																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(3511-3513)Cgt>Tgt		dachsous cadherin-related 1							61.0	56.0	58.0					11																	6653011		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6653011G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3511C>T	11.37:g.6653011G>A	ENSP00000299441:p.Arg1171Cys					RP11-732A19.6_ENST00000526633.1_RNA	p.R1171C	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	3922	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1171			Cadherin 11.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.3511C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856369	0.71834	.	.	ENSG00000166341	ENST00000299441	T	0.01767	4.65	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.000000	0.40222	N	0.001144	T	0.13841	0.0335	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00326	-1.1815	10	0.51188	T	0.08	.	17.9063	0.88919	0.0:0.0:1.0:0.0	.	1171	Q96JQ0	PCD16_HUMAN	C	1171	ENSP00000299441:R1171C	ENSP00000299441:R1171C	R	-	1	0	DCHS1	6609587	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.030000	0.76484	2.711000	0.92665	0.655000	0.94253	CGT		0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		27	23	0	0	0	1	0	27	23				
KRT37	8688	broad.mit.edu	37	17	39580429	39580429	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:39580429G>A	ENST00000225550.3	-	1	346	c.347C>T	c.(346-348)gCc>gTc	p.A116V	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	116	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CAGGTAGTTGGCCAGGCGGTC	0.582																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(346-348)gCc>gTc		keratin 37							111.0	94.0	100.0					17																	39580429		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39580429G>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.347C>T	17.37:g.39580429G>A	ENSP00000225550:p.Ala116Val					AC003958.2_ENST00000432258.1_RNA	p.A116V	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			1	346	-		Breast(137;0.000496)	116			Coil 1A.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.347C>T	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	31	5.103094	0.94245	.	.	ENSG00000108417	ENST00000225550	D	0.95137	-3.62	4.69	4.69	0.59074	Filament (1);	0.000000	0.49305	D	0.000155	D	0.97936	0.9321	M	0.93507	3.425	0.50632	D	0.999884	D	0.89917	1.0	D	0.91635	0.999	D	0.99353	1.0915	10	0.87932	D	0	.	16.591	0.84765	0.0:0.0:1.0:0.0	.	116	O76014	KRT37_HUMAN	V	116	ENSP00000225550:A116V	ENSP00000225550:A116V	A	-	2	0	KRT37	36833955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.755000	0.74914	2.169000	0.68431	0.655000	0.94253	GCC		0.582	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		37	90	0	0	0	1	0	37	90				
CHGB	1114	broad.mit.edu	37	20	5905619	5905619	+	Splice_Site	SNP	A	A	G			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr20:5905619A>G	ENST00000378961.4	+	5	2162	c.1958A>G	c.(1957-1959)aAa>aGa	p.K653R		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	653						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ATTTTCCAGAAAAAAGAACTC	0.443																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.e5-1		chromogranin B (secretogranin 1)							64.0	65.0	64.0					20																	5905619		2203	4300	6503	SO:0001630	splice_region_variant	1114					extracellular region	hormone activity	g.chr20:5905619A>G		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1957-1A>G	20.37:g.5905619A>G							p.K653_splice	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			5	2162	+			653					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Splice_Site	SNP	ENST00000378961.4	37	c.1956_splice	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.334896	0.41297	.	.	ENSG00000089199	ENST00000378961	T	0.01871	4.59	5.69	5.69	0.88448	.	0.262261	0.32901	N	0.005516	T	0.02418	0.0074	N	0.19112	0.55	0.28899	N	0.893393	B	0.23185	0.081	B	0.25506	0.061	T	0.31308	-0.9948	10	0.62326	D	0.03	-13.832	13.2852	0.60239	0.8684:0.1316:0.0:0.0	.	653	P05060	SCG1_HUMAN	R	653	ENSP00000368244:K653R	ENSP00000368244:K653R	K	+	2	0	CHGB	5853619	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	4.578000	0.60929	2.293000	0.77203	0.533000	0.62120	AAA		0.443	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	Missense_Mutation	18	20	0	0	0	1	0	18	20				
ZNF91	7644	broad.mit.edu	37	19	23542477	23542477	+	Missense_Mutation	SNP	C	C	T	rs370911694		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:23542477C>T	ENST00000300619.7	-	4	3509	c.3304G>A	c.(3304-3306)Gga>Aga	p.G1102R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.G1070R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1102					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTTCTCTCCGGTGTGCAAC	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19122	0.0		0.0	False		,,,				2504	0.0					ENST00000300619.7																			0											c.(3304-3306)Gga>Aga		zinc finger protein 91		C	ARG/GLY	1,4279		0,1,2139	69.0	75.0	73.0		3304	0.4	0.1	19		73	0,8532		0,0,4266	no	missense	ZNF91	NM_003430.2	125	0,1,6405	TT,TC,CC		0.0,0.0234,0.0078	probably-damaging	1102/1192	23542477	1,12811	2140	4266	6406	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542477C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3304G>A	19.37:g.23542477C>T	ENSP00000300619:p.Gly1102Arg					ZNF91_ENST00000397082.2_Missense_Mutation_p.G1070R|ZNF91_ENST00000599743.1_Intron	p.G1102R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	3509	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	1102					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.3304G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130703	0.37630	2.34E-4	0.0	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.01629	4.72;4.72	1.49	0.38	0.16222	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	L	0.58925	1.835	0.27863	N	0.94034	D;D	0.89917	1.0;1.0	D;D	0.68621	0.931;0.959	T	0.31806	-0.9930	9	0.59425	D	0.04	.	4.9731	0.14127	0.0:0.6454:0.0:0.3546	.	1070;1102	Q05481-2;Q05481	.;ZNF91_HUMAN	R	1102;1070	ENSP00000300619:G1102R;ENSP00000380272:G1070R	ENSP00000300619:G1102R	G	-	1	0	ZNF91	23334317	0.005000	0.15991	0.056000	0.19401	0.191000	0.23601	1.343000	0.33930	0.793000	0.33875	0.196000	0.17591	GGA		0.398	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		23	53	0	0	0	1	0	23	53				
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr11:124857495A>C	ENST00000344762.5	+	8	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	CCDC15_ENST00000529051.1_Missense_Mutation_p.H458P	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418													C|||	6	0.00119808	0.0008	0.0	5008	,	,		19182	0.005		0.0	False		,,,				2504	0.0					ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1372-1374)cAc>cCc		coiled-coil domain containing 15		C	PRO/HIS	5,3679		0,5,1837	109.0	105.0	106.0		1373	-1.4	0.0	11	dbSNP_132	106	0,8170		0,0,4085	yes	missense	CCDC15	NM_025004.2	77	0,5,5922	CC,CA,AA		0.0,0.1357,0.0422	benign	458/952	124857495	5,11849	1842	4085	5927	SO:0001583	missense	80071					centrosome		g.chr11:124857495A>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1373A>C	11.37:g.124857495A>C	ENSP00000341684:p.His458Pro					CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P	p.H458P			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1632	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	458					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1373A>C	CCDS44756.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	0.007	-1.935858	0.00484	0.001357	0.0	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.29142	1.6;1.58	3.32	-1.4	0.08968	.	.	.	.	.	T	0.04272	0.0118	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29882	-0.9997	9	0.02654	T	1	0.0636	3.381	0.07255	0.5595:0.2054:0.1382:0.0969	.	458	Q0P6D6	CCD15_HUMAN	P	458	ENSP00000435403:H458P;ENSP00000341684:H458P	ENSP00000341684:H458P	H	+	2	0	CCDC15	124362705	.	.	0.000000	0.03702	0.085000	0.17905	.	.	-0.576000	0.05974	-0.215000	0.12644	CAC		0.418	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		4	93	0	0	0	1	0	4	93				
DKK2	27123	broad.mit.edu	37	4	107956682	107956682	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr4:107956682C>G	ENST00000285311.3	-	1	772	c.67G>C	c.(67-69)Gtg>Ctg	p.V23L	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	23					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GAGCTCTCCACCATCAGCACC	0.647																																						ENST00000285311.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(67-69)Gtg>Ctg		dickkopf WNT signaling pathway inhibitor 2							80.0	82.0	81.0					4																	107956682		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107956682C>G	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.67G>C	4.37:g.107956682C>G	ENSP00000285311:p.Val23Leu					DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	p.V23L	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	1	772	-		Hepatocellular(203;0.217)	23					A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.67G>C	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.391759	0.25118	.	.	ENSG00000155011	ENST00000285311	T	0.41758	0.99	5.27	4.41	0.53225	.	0.303719	0.33144	N	0.005222	T	0.24198	0.0586	N	0.24115	0.695	0.80722	D	1	B;B	0.34015	0.435;0.015	B;B	0.27887	0.084;0.011	T	0.09640	-1.0665	10	0.02654	T	1	-8.4873	15.2714	0.73705	0.1411:0.8588:0.0:0.0	.	23;23	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	L	23	ENSP00000285311:V23L	ENSP00000285311:V23L	V	-	1	0	DKK2	108176131	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.155000	0.64900	1.413000	0.46997	0.544000	0.68410	GTG		0.647	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			4	165	0	0	0	1	0	4	165				
SUPT6H	6830	broad.mit.edu	37	17	27018008	27018008	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:27018008C>T	ENST00000314616.6	+	27	3843	c.3560C>T	c.(3559-3561)gCg>gTg	p.A1187V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1187V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1187	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TATGACCAGGCGATCCGCAAT	0.552																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3559-3561)gCg>gTg		suppressor of Ty 6 homolog (S. cerevisiae)							121.0	91.0	101.0					17																	27018008		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27018008C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3560C>T	17.37:g.27018008C>T	ENSP00000319104:p.Ala1187Val					SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1187V	p.A1187V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			27	3843	+	Lung NSC(42;0.00431)		1187					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3560C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365543	0.82463	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	M	0.62209	1.925	0.80722	D	1	P	0.46987	0.888	B	0.32465	0.146	T	0.57957	-0.7721	9	0.33141	T	0.24	-13.7195	19.5095	0.95135	0.0:1.0:0.0:0.0	.	1187	Q7KZ85	SPT6H_HUMAN	V	1187	.	ENSP00000319104:A1187V	A	+	2	0	SUPT6H	24042135	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.165000	0.77544	2.679000	0.91253	0.655000	0.94253	GCG		0.552	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		8	57	0	0	0	1	0	8	57				
ZNF98	148198	broad.mit.edu	37	19	22574657	22574657	+	Silent	SNP	T	T	C			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:22574657T>C	ENST00000357774.5	-	4	1501	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ATTTGTAGGGTTTCTCTCCAG	0.373																																						ENST00000357774.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1378-1380)aaA>aaG		zinc finger protein 98							21.0	20.0	21.0					19																	22574657		1671	3788	5459	SO:0001819	synonymous_variant	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574657T>C		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1380A>G	19.37:g.22574657T>C							p.K460K	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN			4	1501	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	460						Silent	SNP	ENST00000357774.5	37	c.1380A>G	CCDS46031.1																																																																																				0.373	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		4	84	0	0	0	1	0	4	84				
CIC	23152	broad.mit.edu	37	19	42796451	42796451	+	Splice_Site	SNP	G	G	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:42796451G>T	ENST00000575354.2	+	13	3048		c.e13-1		CIC_ENST00000160740.3_Splice_Site|CIC_ENST00000572681.2_Splice_Site	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGCGGCAGAATCACCTAT	0.662			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.e14-1		capicua transcriptional repressor							50.0	57.0	55.0					19																	42796451		2197	4287	6484	SO:0001630	splice_region_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796451G>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3009-1G>T	19.37:g.42796451G>T						CIC_ENST00000160740.3_Splice_Site|CIC_ENST00000575354.2_Splice_Site				Q96RK0	CIC_HUMAN			14	5803	+		Prostate(69;0.00682)						Q7LGI1|Q9UEG5|Q9Y6T1	Splice_Site	SNP	ENST00000575354.2	37		CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066680	0.76301	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1439	0.81551	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CIC	47488291	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.342000	0.65970	2.686000	0.91538	0.561000	0.74099	.		0.662	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2		Intron	35	57	1	0	2.54651e-27	1	3.04339e-27	35	57				
ATG13	9776	broad.mit.edu	37	11	46671757	46671757	+	Silent	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr11:46671757G>A	ENST00000434074.1	+	6	1037	c.348G>A	c.(346-348)acG>acA	p.T116T	ATG13_ENST00000529655.1_Silent_p.T116T|ATG13_ENST00000524625.1_Silent_p.T116T|ATG13_ENST00000528494.1_Silent_p.T116T|ATG13_ENST00000451945.1_Silent_p.T116T|ATG13_ENST00000359513.4_Silent_p.T116T|ATG13_ENST00000312040.4_Silent_p.T116T|ATG13_ENST00000530500.1_Silent_p.T37T|ATG13_ENST00000526508.1_Silent_p.T116T	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	116					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TTTCCTACACGGTGTACAACA	0.433																																						ENST00000434074.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.(346-348)acG>acA		autophagy related 13							138.0	130.0	132.0					11																	46671757		2201	4299	6500	SO:0001819	synonymous_variant	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46671757G>A	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.348G>A	11.37:g.46671757G>A						ATG13_ENST00000529655.1_Silent_p.T116T|ATG13_ENST00000530500.1_Silent_p.T37T|ATG13_ENST00000528494.1_Silent_p.T116T|ATG13_ENST00000359513.4_Silent_p.T116T|ATG13_ENST00000526508.1_Silent_p.T116T|ATG13_ENST00000312040.4_Silent_p.T116T|ATG13_ENST00000524625.1_Silent_p.T116T|ATG13_ENST00000451945.1_Silent_p.T116T	p.T116T	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN			6	1037	+			116					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Silent	SNP	ENST00000434074.1	37	c.348G>A	CCDS44582.1																																																																																				0.433	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		31	52	0	0	0	1	0	31	52				
TMEM17	200728	broad.mit.edu	37	2	62733243	62733243	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:62733243G>A	ENST00000335390.5	-	1	233	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	8					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			AGCCGCTGGCGCACCGGATCC	0.672																																						ENST00000335390.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(22-24)Cgc>Tgc		transmembrane protein 17							23.0	26.0	25.0					2																	62733243		2203	4300	6503	SO:0001583	missense	200728					integral to membrane		g.chr2:62733243G>A		CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.22C>T	2.37:g.62733243G>A	ENSP00000335094:p.Arg8Cys						p.R8C	NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)		1	233	-	Lung NSC(7;0.0274)|all_lung(7;0.0568)		8					Q53QP7|Q53R98	Missense_Mutation	SNP	ENST00000335390.5	37	c.22C>T	CCDS1871.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318092	0.81469	.	.	ENSG00000186889	ENST00000335390	T	0.59224	0.28	4.82	4.82	0.62117	.	0.056069	0.64402	D	0.000001	T	0.66187	0.2764	L	0.32530	0.975	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.69450	-0.5142	10	0.87932	D	0	-7.035	14.8057	0.69952	0.0:0.0:1.0:0.0	.	8	Q86X19	TMM17_HUMAN	C	8	ENSP00000335094:R8C	ENSP00000335094:R8C	R	-	1	0	TMEM17	62586747	1.000000	0.71417	0.983000	0.44433	0.726000	0.41606	2.473000	0.45145	2.525000	0.85131	0.456000	0.33151	CGC		0.672	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	NM_198276		3	22	0	0	0	1	0	3	22				
TLR9	54106	broad.mit.edu	37	3	52255381	52255381	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr3:52255381C>A	ENST00000360658.2	-	2	3584	c.2951G>T	c.(2950-2952)cGc>cTc	p.R984L	TLR9_ENST00000494383.1_Silent_p.A1137A|TLR9_ENST00000597542.1_Missense_Mutation_p.R1008L	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	984	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GAGGCGCTGGCGCAGCCGCAC	0.706																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(3022-3024)cGc>cTc		toll-like receptor 9	Chloroquine(DB00608)						27.0	30.0	29.0					3																	52255381		2201	4297	6498	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52255381C>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2951G>T	3.37:g.52255381C>A	ENSP00000353874:p.Arg984Leu					TLR9_ENST00000360658.2_Missense_Mutation_p.R984L|TLR9_ENST00000494383.1_Silent_p.A1137A	p.R1008L			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	3980	-			984			TIR.		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.3023G>T	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091776	0.94149	.	.	ENSG00000239732	ENST00000360658	T	0.08807	3.05	5.18	5.18	0.71444	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.42053	D	0.000780	T	0.36908	0.0984	M	0.89715	3.055	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.37314	-0.9711	10	0.87932	D	0	.	16.223	0.82269	0.0:1.0:0.0:0.0	.	1081;984	B4E0A1;Q9NR96	.;TLR9_HUMAN	L	984	ENSP00000353874:R984L	ENSP00000353874:R984L	R	-	2	0	TLR9	52230421	0.994000	0.37717	1.000000	0.80357	0.986000	0.74619	3.730000	0.55006	2.694000	0.91930	0.591000	0.81541	CGC		0.706	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			5	25	1	0	0.014758	1	0.015386	5	25				
HNRNPCL1	343069	broad.mit.edu	37	1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C	rs200282759	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:12907458T>C	ENST00000317869.6	-	2	910	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	229						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTTTCTTCATGGAGCTACTG	0.458																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(685-687)Atg>Gtg		heterogeneous nuclear ribonucleoprotein C-like 1							110.0	112.0	112.0					1																	12907458		2203	4297	6500	SO:0001583	missense	343069							g.chr1:12907458T>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.685A>G	1.37:g.12907458T>C	ENSP00000365370:p.Met229Val						p.M229V	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	910	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.685A>G	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.367597	0.00015	.	.	ENSG00000179172	ENST00000317869	T	0.08807	3.05	1.09	-1.67	0.08238	.	33.202900	0.00166	N	0.000000	T	0.02727	0.0082	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	10	0.24483	T	0.36	.	3.6976	0.08371	0.0:0.2307:0.2991:0.4701	.	229	O60812	HNRCL_HUMAN	V	229	ENSP00000365370:M229V	ENSP00000365370:M229V	M	-	1	0	HNRNPCL1	12830045	0.986000	0.35501	0.919000	0.36401	0.078000	0.17371	0.226000	0.17776	-0.440000	0.07211	-2.072000	0.00384	ATG		0.458	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		4	82	0	0	0	1	0	4	82				
HRSP12	10247	broad.mit.edu	37	8	99129320	99129320	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr8:99129320G>A	ENST00000254878.3	-	1	149	c.5C>T	c.(4-6)tCg>tTg	p.S2L	POP1_ENST00000401707.2_5'Flank|POP1_ENST00000349693.3_5'Flank|HRSP12_ENST00000519155.1_5'UTR	NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	2					regulation of translational termination (GO:0006449)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deaminase activity (GO:0019239)|endonuclease activity (GO:0004519)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GATCAAGGACGACATGGCTAA	0.612																																						ENST00000254878.3																			0				large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6						c.(4-6)tCg>tTg		heat-responsive protein 12							98.0	85.0	90.0					8																	99129320		2203	4300	6503	SO:0001583	missense	10247				regulation of translational termination	nucleus	endonuclease activity	g.chr8:99129320G>A	BC008418	CCDS6276.1	8q22	2014-05-09			ENSG00000132541	ENSG00000132541			16897	protein-coding gene	gene with protein product	"""translational inhibitor p14.5"""	602487				8973653, 9405234, 20817725	Standard	NM_005836		Approved	UK114, P14.5, PSP	uc003yii.1	P52758	OTTHUMG00000164670	ENST00000254878.3:c.5C>T	8.37:g.99129320G>A	ENSP00000254878:p.Ser2Leu					HRSP12_ENST00000519155.1_5'UTR	p.S2L	NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.214)		1	149	-	Breast(36;1.78e-06)		2					Q6FHU9|Q6IBG0	Missense_Mutation	SNP	ENST00000254878.3	37	c.5C>T	CCDS6276.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.321434|4.321434	0.81580|0.81580	.|.	.|.	ENSG00000132541|ENSG00000132541	ENST00000520507|ENST00000254878;ENST00000521560;ENST00000520989	.|.	.|.	.|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.196285	.|0.45606	.|D	.|0.000347	T|T	0.57695|0.57695	0.2071|0.2071	L|L	0.43152|0.43152	1.355|1.355	0.44214|0.44214	D|D	0.997042|0.997042	.|B	.|0.12013	.|0.005	.|B	.|0.04013	.|0.001	T|T	0.50742|0.50742	-0.8792|-0.8792	5|9	.|0.45353	.|T	.|0.12	.|.	18.1921|18.1921	0.89810|0.89810	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2	.|P52758	.|UK114_HUMAN	C|L	7|2;27;2	.|.	.|ENSP00000254878:S2L	R|S	-|-	1|2	0|0	HRSP12|HRSP12	99198496|99198496	1.000000|1.000000	0.71417|0.71417	0.791000|0.791000	0.31998|0.31998	0.980000|0.980000	0.70556|0.70556	7.180000|7.180000	0.77674|0.77674	2.832000|2.832000	0.97577|0.97577	0.650000|0.650000	0.86243|0.86243	CGT|TCG		0.612	HRSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379687.1	NM_005836		10	78	0	0	0	1	0	10	78				
RTN4	57142	broad.mit.edu	37	2	55253745	55253746	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:55253745_55253746insT	ENST00000337526.6	-	3	1732_1733	c.1489_1490insA	c.(1489-1491)atafs	p.I497fs	RTN4_ENST00000405240.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.I265fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.I291fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	497					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CTTTTCTTCTATTTTTTTTTCA	0.381																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1489-1491)agafs		reticulon 4																																				SO:0001589	frameshift_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253745_55253746insT	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1490dupA	2.37:g.55253754_55253754dupT	ENSP00000337838:p.Ile497fs					RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000317610.7_Intron	p.R497fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	1732_1733	-			497					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Frame_Shift_Ins	INS	ENST00000337526.6	37	c.1489_1490insA	CCDS42684.1																																																																																				0.381	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			7	71						7	71	---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64779134	64779134	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:64779134delC	ENST00000422803.1	+	2	840	c.526delC	c.(526-528)cctfs	p.P177fs	AFTPH_ENST00000238855.7_Frame_Shift_Del_p.P177fs|AFTPH_ENST00000238856.4_Frame_Shift_Del_p.P177fs|AFTPH_ENST00000409933.1_Frame_Shift_Del_p.P177fs|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	177					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGTGAAAAGCCTCCTTGTCT	0.403																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(526-528)ctfs		aftiphilin							78.0	75.0	76.0					2																	64779134		2203	4300	6503	SO:0001589	frameshift_variant	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779134delC	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.526delC	2.37:g.64779134delC	ENSP00000397726:p.Pro177fs					AFTPH_ENST00000409933.1_Frame_Shift_Del_p.P177fs|AFTPH_ENST00000238855.7_Frame_Shift_Del_p.P177fs|AFTPH_ENST00000238856.4_Frame_Shift_Del_p.P177fs	p.P177fs			Q6ULP2	AFTIN_HUMAN			2	840	+			177					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Frame_Shift_Del	DEL	ENST00000422803.1	37	c.526delC																																																																																					0.403	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		18	84						18	84	---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	132059230	132059230	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr6:132059230delG	ENST00000414305.1	+	24	2555	c.2227delG	c.(2227-2229)gtafs	p.V743fs	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Frame_Shift_Del_p.V743fs			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	743	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AAGAAATGGAGTAAATGTGGT	0.313																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2227-2229)tafs		ectonucleotide pyrophosphatase/phosphodiesterase 3							112.0	122.0	119.0					6																	132059230		2202	4297	6499	SO:0001589	frameshift_variant	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132059230delG	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2227delG	6.37:g.132059230delG	ENSP00000406261:p.Val743fs					ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Frame_Shift_Del_p.V743fs	p.V743fs			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	24	2555	+	Breast(56;0.0753)		743			Nuclease.		Q5JTL3	Frame_Shift_Del	DEL	ENST00000414305.1	37	c.2227delG	CCDS5148.1																																																																																				0.313	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			14	49						14	49	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755219	146755221	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr6:146755219_146755221delGAG	ENST00000282753.1	+	8	3107_3109	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E961del	GRM1_ENST00000361719.2_In_Frame_Del_p.E961del|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	961					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TTACAACGTAGAGGAGGAGGAGG	0.586																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2872-2874)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)		,	5,4255		2,1,2127					,	0.6	0.8			106	4,8246		2,0,4123	no	utr-3,coding	GRM1	NM_001114329.1,NM_000838.3	,	4,1,6250	A1A1,A1R,RR		0.0485,0.1174,0.0719	,	,		9,12501				SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755219_146755221delGAG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2872_2874delGAG	6.37:g.146755228_146755230delGAG	ENSP00000282753:p.Glu961del					GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.E961del	p.E961del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3342_3344	+		Ovarian(120;0.0387)	961					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.2872_2874delGAG	CCDS5209.1																																																																																				0.586	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	253						7	253	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		11	80						11	80	---	---	---	---
LINC01229	101928248	broad.mit.edu	37	16	79757021	79757023	+	lincRNA	DEL	TGG	TGG	-	rs80072720		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr16:79757021_79757023delTGG	ENST00000561510.1	+	0	361																											ctggtggtaatggtggtggtggt	0.581																																						ENST00000561510.1																			0																																																			0							g.chr16:79757021_79757023delTGG																													16.37:g.79757030_79757032delTGG														0	361	+									RNA	DEL	ENST00000561510.1	37																																																																																						0.581	RP11-345M22.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000434548.1			2	4						2	4	---	---	---	---
GINS2	51659	broad.mit.edu	37	16	85722433	85722433	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr16:85722433delG	ENST00000253462.3	-	1	172	c.72delC	c.(70-72)gacfs	p.D24fs	C16orf74_ENST00000602758.1_5'Flank	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	24					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						GGTAGATCTTGTCCAGACTGA	0.692																																						ENST00000253462.3																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(70-72)gafs		GINS complex subunit 2 (Psf2 homolog)							31.0	25.0	27.0					16																	85722433		2148	4212	6360	SO:0001589	frameshift_variant	51659				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding	g.chr16:85722433delG	BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.72delC	16.37:g.85722433delG	ENSP00000253462:p.Asp24fs						p.D24fs	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN			1	172	-			24					D3DUM5|Q6IAG9	Frame_Shift_Del	DEL	ENST00000253462.3	37	c.72delC	CCDS10953.1																																																																																				0.692	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	NM_016095		2	4						2	4	---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80173535	80173535	+	5'Flank	DEL	C	C	-	rs61581716	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:80173535delC	ENST00000389641.4	-	0	0				CCDC57_ENST00000392347.1_5'Flank|RP13-516M14.2_ENST00000581303.1_RNA|CCDC57_ENST00000392343.3_5'Flank			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57											endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			tccttccctgccccccacact	0.701													|||unknown(LONG_INSERTION)	2565	0.512181	0.5688	0.5375	5008	,	,		10887	0.5258		0.4235	False		,,,				2504	0.4949					ENST00000581303.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:80173535delC	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396		17.37:g.80173535delC	Exception_encountered													0	1371	+								A6NP51|A8MQC7|Q8IWG2|Q8TER3	RNA	DEL	ENST00000389641.4	37																																																																																						0.701	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		5	9						5	9	---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43221415	43221417	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr21:43221415_43221417delCTG	ENST00000269844.3	-	31	4617_4619	c.4507_4509delCAG	c.(4507-4509)cagdel	p.Q1503del	PRDM15_ENST00000422911.1_In_Frame_Del_p.Q1194del|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1503	Poly-Gln.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGCTGTACATCTGCTGCTGCTGC	0.611																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(3580-3582)del		PR domain containing 15			,	51,4111		1,49,2031					,	4.6	1.0			44	94,7930		4,86,3922	no	coding,coding	PRDM15	NM_022115.3,NM_001040424.1	,	5,135,5953	A1A1,A1R,RR		1.1715,1.2254,1.1899	,	,		145,12041				SO:0001651	inframe_deletion	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43221415_43221417delCTG	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4507_4509delCAG	21.37:g.43221424_43221426delCTG	ENSP00000269844:p.Gln1503del					PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del	p.Q1194del			P57071	PRD15_HUMAN			25	3681_3683	-			1503					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	In_Frame_Del	DEL	ENST00000269844.3	37	c.3580_3582delCAG	CCDS13676.1																																																																																				0.611	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		9	149						9	149	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73071845	73071846	+	lincRNA	INS	-	-	A	rs200290800		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chrX:73071845_73071846insA	ENST00000429829.1	-	0	742_743					NR_001564.2				X inactive specific transcript (non-protein coding)																		GATGGGCGATGAAAAAAAAAAA	0.411																																						ENST00000429829.1																			0																																																			0							g.chrX:73071845_73071846insA	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071856_73071856dupA								NR_001564.2						0	742_743	-									RNA	INS	ENST00000429829.1	37																																																																																						0.411	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		3	4						3	4	---	---	---	---
