#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
NFATC2	4773	broad.mit.edu	37	20	50139839	50139839	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr20:50139839G>A	ENST00000396009.3	-	2	1160	c.941C>T	c.(940-942)tCg>tTg	p.S314L	NFATC2_ENST00000610033.1_Missense_Mutation_p.S95L|NFATC2_ENST00000609943.1_Missense_Mutation_p.S294L|NFATC2_ENST00000414705.1_Missense_Mutation_p.S294L|NFATC2_ENST00000609507.1_Missense_Mutation_p.S95L|NFATC2_ENST00000371564.3_Missense_Mutation_p.S314L	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	314					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCCACAAGGCGAGTCCGTGGC	0.687																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(940-942)tCg>tTg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							17.0	22.0	20.0					20																	50139839		2197	4293	6490	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50139839G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.941C>T	20.37:g.50139839G>A	ENSP00000379330:p.Ser314Leu					NFATC2_ENST00000414705.1_Missense_Mutation_p.S294L|NFATC2_ENST00000396009.3_Missense_Mutation_p.S314L	p.S314L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	1160	-	Hepatocellular(150;0.248)		314					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.941C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931569	0.34096	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.15603	2.41;2.42;2.42	5.67	5.67	0.87782	.	0.263584	0.38326	N	0.001721	T	0.14313	0.0346	L	0.34521	1.04	0.28413	N	0.918071	B;B;B;B	0.29909	0.242;0.261;0.242;0.242	B;B;B;B	0.21708	0.036;0.024;0.036;0.036	T	0.09509	-1.0671	10	0.51188	T	0.08	-9.1617	14.5976	0.68417	0.0:0.0:0.8541:0.1459	.	294;294;314;314	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	314;314;95;294	ENSP00000360619:S314L;ENSP00000379330:S314L;ENSP00000396471:S294L	ENSP00000360619:S314L	S	-	2	0	NFATC2	49573246	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	4.132000	0.57977	2.680000	0.91292	0.305000	0.20034	TCG		0.687	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		5	21	0	0	0	1	0	5	21				
PCDHA3	56145	broad.mit.edu	37	5	140181778	140181778	+	Missense_Mutation	SNP	T	T	G	rs548656877		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:140181778T>G	ENST00000522353.2	+	1	996	c.996T>G	c.(994-996)gaT>gaG	p.D332E	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D332E|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	332	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGTCAGATCACTGCACAG	0.378																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(994-996)gaT>gaG									175.0	173.0	174.0					5																	140181778		2203	4300	6503	SO:0001583	missense	0							g.chr5:140181778T>G	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.996T>G	5.37:g.140181778T>G	ENSP00000429808:p.Asp332Glu					PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D332E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	p.D332E	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	996	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.996T>G	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	t	8.598	0.886161	0.17540	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.50277	0.75;0.75	4.79	2.08	0.27032	Cadherin (4);Cadherin-like (1);	0.571421	0.14305	U	0.328016	T	0.31482	0.0798	L	0.31294	0.92	0.09310	N	0.999994	B;B	0.06786	0.001;0.001	B;B	0.21151	0.01;0.033	T	0.27088	-1.0084	10	0.72032	D	0.01	.	3.0934	0.06301	0.2873:0.2595:0.0:0.4532	.	332;332	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	E	332	ENSP00000429808:D332E;ENSP00000434086:D332E	ENSP00000429808:D332E	D	+	3	2	PCDHA3	140161962	0.000000	0.05858	0.994000	0.49952	0.653000	0.38743	-2.220000	0.01217	0.795000	0.33922	-0.456000	0.05471	GAT		0.378	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		21	99	0	0	0	1	0	21	99				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	43	0	0	0	1	0	4	43				
PIK3CA	5290	broad.mit.edu	37	3	178952073	178952073	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr3:178952073T>C	ENST00000263967.3	+	21	3285	c.3128T>C	c.(3127-3129)aTg>aCg	p.M1043T	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043T(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATGAAACAAATGAATGATGCA	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		4	Substitution - Missense(4)	p.M1043T(4)	ovary(2)|stomach(1)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3127-3129)aTg>aCg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							98.0	88.0	91.0					3																	178952073		1907	4122	6029	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952073T>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3128T>C	3.37:g.178952073T>C	ENSP00000263967:p.Met1043Thr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043T	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3285	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3128T>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210682	0.39102	.	.	ENSG00000121879	ENST00000263967	T	0.80824	-1.42	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.68595	0.3018	N	0.16266	0.395	0.80722	D	1	P	0.37500	0.597	B	0.32624	0.149	T	0.73091	-0.4092	10	0.62326	D	0.03	-20.5202	16.6512	0.85203	0.0:0.0:0.0:1.0	.	1043	P42336	PK3CA_HUMAN	T	1043	ENSP00000263967:M1043T	ENSP00000263967:M1043T	M	+	2	0	PIK3CA	180434767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.611000	0.82962	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			18	84	0	0	0	1	0	18	84				
REPS1	85021	broad.mit.edu	37	6	139229869	139229869	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr6:139229869C>G	ENST00000450536.2	-	18	2726	c.2152G>C	c.(2152-2154)Gat>Cat	p.D718H	REPS1_ENST00000367663.4_Missense_Mutation_p.D691H|REPS1_ENST00000258062.5_Missense_Mutation_p.D717H|REPS1_ENST00000409812.2_Missense_Mutation_p.D627H|REPS1_ENST00000415951.2_Missense_Mutation_p.D659H			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	718	Interaction with RALBP1. {ECO:0000250}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GTATGTTCATCAACTTCTGGC	0.388																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(2152-2154)Gat>Cat		RALBP1 associated Eps domain containing 1							194.0	174.0	181.0					6																	139229869		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139229869C>G		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.2152G>C	6.37:g.139229869C>G	ENSP00000392065:p.Asp718His					REPS1_ENST00000415951.2_Missense_Mutation_p.D659H|REPS1_ENST00000367663.4_Missense_Mutation_p.D691H|REPS1_ENST00000409812.2_Missense_Mutation_p.D627H|REPS1_ENST00000258062.5_Missense_Mutation_p.D717H	p.D718H			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	18	2726	-			718			Interaction with RALBP1 (By similarity).		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.2152G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.12|19.12	3.765633|3.765633	0.69878|0.69878	.|.	.|.	ENSG00000135597|ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668|ENST00000478483;ENST00000526022	T;T;T;T;T;T|.	0.30714|.	1.54;1.53;1.52;1.52;1.54;1.52|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.105347|.	0.64402|.	D|.	0.000005|.	T|T	0.39489|0.39489	0.1080|0.1080	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999991|0.999991	P;P;D;P;P|.	0.76494|.	0.937;0.771;0.999;0.895;0.8|.	P;P;D;P;B|.	0.71870|.	0.694;0.498;0.975;0.498;0.417|.	T|T	0.30031|0.30031	-0.9992|-0.9992	10|5	0.59425|.	D|.	0.04|.	-16.7409|-16.7409	19.2467|19.2467	0.93905|0.93905	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	717;666;627;718;659|.	Q96D71-3;B2R7D3;Q96D71-2;Q96D71;E9PMG1|.	.;.;.;REPS1_HUMAN;.|.	H|F	718;691;676;627;717;659;666|96;2	ENSP00000392065:D718H;ENSP00000356635:D691H;ENSP00000434251:D676H;ENSP00000386699:D627H;ENSP00000258062:D717H;ENSP00000397941:D659H|.	ENSP00000258062:D717H|.	D|L	-|-	1|3	0|2	REPS1|REPS1	139271562|139271562	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.896000|0.896000	0.52359|0.52359	7.063000|7.063000	0.76714|0.76714	2.784000|2.784000	0.95788|0.95788	0.585000|0.585000	0.79938|0.79938	GAT|TTG		0.388	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			7	80	0	0	0	1	0	7	80				
CYP4F3	4051	broad.mit.edu	37	19	15769595	15769595	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr19:15769595T>A	ENST00000221307.8	+	12	1420	c.1373T>A	c.(1372-1374)tTt>tAt	p.F458Y	CYP4F3_ENST00000591058.1_Missense_Mutation_p.F458Y|CYP4F3_ENST00000585846.1_Missense_Mutation_p.F458Y|CYP4F3_ENST00000586182.2_Missense_Mutation_p.F458Y	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	458					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCTCTGGCTTTTATTCCCTTC	0.592																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(1372-1374)tTt>tAt		cytochrome P450, family 4, subfamily F, polypeptide 3							106.0	111.0	109.0					19																	15769595		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15769595T>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1373T>A	19.37:g.15769595T>A	ENSP00000221307:p.Phe458Tyr					CYP4F3_ENST00000585846.1_Missense_Mutation_p.F458Y|CYP4F3_ENST00000591058.1_Missense_Mutation_p.F458Y|CYP4F3_ENST00000586182.1_Missense_Mutation_p.F458Y	p.F458Y	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			12	1421	+			458					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.1373T>A	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	19.31	3.803662	0.70682	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.68479	-0.33	3.68	3.68	0.42216	.	0.000000	0.64402	U	0.000002	T	0.62962	0.2471	N	0.26092	0.79	0.52501	D	0.999954	B;B;B	0.24823	0.025;0.066;0.112	B;B;B	0.44044	0.17;0.215;0.439	T	0.62609	-0.6818	10	0.42905	T	0.14	.	10.3661	0.44024	0.0:0.0:0.0:1.0	.	168;458;458	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	Y	385;458	ENSP00000221307:F458Y	ENSP00000221307:F458Y	F	+	2	0	CYP4F3	15630595	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	4.968000	0.63728	1.543000	0.49345	0.254000	0.18369	TTT		0.592	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		7	135	0	0	0	1	0	7	135				
GOLGA6L2	283685	broad.mit.edu	37	15	23690510	23690510	+	Missense_Mutation	SNP	T	T	G	rs3866720		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr15:23690510T>G	ENST00000567107.1	-	2	212	c.160A>C	c.(160-162)Aat>Cat	p.N54H	GOLGA6L2_ENST00000345070.5_5'UTR|GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.N54H			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	54			N -> H (in dbSNP:rs3866720). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							breast(1)|endometrium(7)	8						TTAGTGCCATTATTTATTTTC	0.498																																						ENST00000567107.1																			0				breast(1)|endometrium(7)	8						c.(160-162)Aat>Cat		golgin A6 family-like 2																																				SO:0001583	missense	283685							g.chr15:23690510T>G	AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.160A>C	15.37:g.23690510T>G	ENSP00000454407:p.Asn54His					GOLGA6L2_ENST00000345070.5_5'UTR|GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.N54H	p.N54H							2	212	-								A1L301	Missense_Mutation	SNP	ENST00000567107.1	37	c.160A>C		.	.	.	.	.	.	.	.	.	.	t	11.03	1.519943	0.27211	.	.	ENSG00000174450	ENST00000312015	T	0.14144	2.53	.	.	.	.	.	.	.	.	T	0.24890	0.0604	.	.	.	0.47737	P	4.979999999999984E-4	D	0.54397	0.966	P	0.58721	0.844	T	0.30995	-0.9959	5	0.52906	T	0.07	.	.	.	.	rs3866720	54	Q8N9W4	GG6L2_HUMAN	H	54	ENSP00000307928:N54H	ENSP00000307928:N54H	N	-	1	0	GOLGA6L2	21241603	0.977000	0.34250	0.296000	0.24974	0.295000	0.27426	-0.121000	0.10643	0.139000	0.18822	0.138000	0.15974	AAT		0.498	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000431937.1	NM_182561		2	15	0	0	0	1	0	2	15				
IP6K3	117283	broad.mit.edu	37	6	33690730	33690730	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr6:33690730C>G	ENST00000293756.4	-	6	1326	c.1000G>C	c.(1000-1002)Gaa>Caa	p.E334Q	IP6K3_ENST00000451316.1_Missense_Mutation_p.E334Q	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	334					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						TCTGGTGGTTCCTGCCCATCA	0.602																																						ENST00000451316.1																			0				skin(1)	1						c.(1000-1002)Gaa>Caa		inositol hexakisphosphate kinase 3							64.0	67.0	66.0					6																	33690730		2203	4300	6503	SO:0001583	missense	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33690730C>G	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.1000G>C	6.37:g.33690730C>G	ENSP00000293756:p.Glu334Gln					IP6K3_ENST00000293756.4_Missense_Mutation_p.E334Q	p.E334Q	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN			7	1535	-			334					Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	c.1000G>C	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148935	0.37923	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.14022	2.54;2.54	5.99	1.54	0.23209	.	0.629507	0.15696	N	0.249154	T	0.03871	0.0109	L	0.45581	1.43	0.25927	N	0.98305	B	0.24768	0.111	B	0.23275	0.045	T	0.41698	-0.9494	10	0.17832	T	0.49	-26.5173	11.2071	0.48775	0.0:0.5397:0.3846:0.0757	.	334	Q96PC2	IP6K3_HUMAN	Q	334	ENSP00000398861:E334Q;ENSP00000293756:E334Q	ENSP00000293756:E334Q	E	-	1	0	IP6K3	33798708	1.000000	0.71417	0.931000	0.37212	0.758000	0.43043	3.652000	0.54439	0.373000	0.24621	-0.175000	0.13238	GAA		0.602	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		12	71	0	0	0	1	0	12	71				
RPF2	84154	broad.mit.edu	37	6	111346773	111346773	+	Silent	SNP	T	T	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr6:111346773T>A	ENST00000441448.2	+	10	1001	c.909T>A	c.(907-909)atT>atA	p.I303I		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	303						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I303I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						CAAAAAGAATTAAAAAAAATT	0.368																																						ENST00000441448.2																			1	Substitution - coding silent(1)	p.I303I(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						c.(907-909)atT>atA		ribosome production factor 2 homolog (S. cerevisiae)							29.0	33.0	31.0					6																	111346773		2199	4300	6499	SO:0001819	synonymous_variant	84154					nucleolus	protein binding	g.chr6:111346773T>A	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.909T>A	6.37:g.111346773T>A							p.I303I	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN			10	1001	+			303					Q5VXN1|Q8N4A1	Silent	SNP	ENST00000441448.2	37	c.909T>A	CCDS5088.1																																																																																				0.368	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		9	26	0	0	0	1	0	9	26				
PLSCR2	57047	broad.mit.edu	37	3	146173222	146173222	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr3:146173222T>C	ENST00000497985.1	-	6	783	c.344A>G	c.(343-345)aAc>aGc	p.N115S	PLSCR2_ENST00000336685.2_Missense_Mutation_p.N42S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	115					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TTCATACATGTTACTACTTTC	0.323																																						ENST00000497985.1																			0				endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						c.(343-345)aAc>aGc		phospholipid scramblase 2							67.0	72.0	71.0					3																	146173222		2203	4300	6503	SO:0001583	missense	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146173222T>C		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.344A>G	3.37:g.146173222T>C	ENSP00000420132:p.Asn115Ser					PLSCR2_ENST00000336685.2_Missense_Mutation_p.N42S	p.N115S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN			6	783	-			42					B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.344A>G	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	16.82	3.228263	0.58777	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.51574	0.7;0.7;0.7	3.1	3.1	0.35709	.	0.000000	0.38663	U	0.001604	T	0.73916	0.3648	M	0.93462	3.42	0.45946	D	0.998777	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80779	-0.1230	10	0.62326	D	0.03	.	12.3575	0.55184	0.0:0.0:0.0:1.0	.	135;42	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	S	42;134;115;42	ENSP00000338707:N42S;ENSP00000420132:N115S;ENSP00000418444:N42S	ENSP00000338707:N42S	N	-	2	0	PLSCR2	147655912	1.000000	0.71417	0.020000	0.16555	0.007000	0.05969	1.995000	0.40767	1.653000	0.50694	0.455000	0.32223	AAC		0.323	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		5	96	0	0	0	1	0	5	96				
CCDC97	90324	broad.mit.edu	37	19	41826329	41826329	+	Missense_Mutation	SNP	A	A	G	rs367824945		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr19:41826329A>G	ENST00000269967.3	+	4	987	c.865A>G	c.(865-867)Atg>Gtg	p.M289V		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	289										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CACCAGCCGCATGCACCAGCG	0.637																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(865-867)Atg>Gtg		coiled-coil domain containing 97		A	VAL/MET	1,4405	2.1+/-5.4	0,1,2202	101.0	86.0	91.0		865	4.5	1.0	19		91	0,8600		0,0,4300	no	missense	CCDC97	NM_052848.1	21	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	289/344	41826329	1,13005	2203	4300	6503	SO:0001583	missense	90324							g.chr19:41826329A>G	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.865A>G	19.37:g.41826329A>G	ENSP00000269967:p.Met289Val						p.M289V	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			4	987	+			289					Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	c.865A>G	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.362219	0.82353	2.27E-4	0.0	ENSG00000142039	ENST00000269967	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.83483	2.645	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	T	0.82448	-0.0452	9	0.72032	D	0.01	-17.893	12.8463	0.57831	1.0:0.0:0.0:0.0	.	289	Q96F63	CCD97_HUMAN	V	289	.	ENSP00000269967:M289V	M	+	1	0	CCDC97	46518169	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.667000	0.83888	1.874000	0.54306	0.379000	0.24179	ATG		0.637	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		10	44	0	0	0	1	0	10	44				
HFE	3077	broad.mit.edu	37	6	26094421	26094421	+	Silent	SNP	C	C	T			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr6:26094421C>T	ENST00000357618.5	+	6	1136	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	HFE_ENST00000353147.5_Silent_p.A158A|HFE_ENST00000336625.8_Silent_p.A232A|HFE_ENST00000397022.3_Silent_p.A315A|HFE_ENST00000470149.1_Silent_p.A335A|HFE_ENST00000352392.4_Silent_p.A66A|HFE_ENST00000317896.7_Silent_p.A246A|HFE_ENST00000488199.1_Silent_p.A236A|HFE_ENST00000309234.6_Intron|HFE_ENST00000461397.1_Silent_p.A324A|HFE_ENST00000349999.4_Silent_p.A250A	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	338					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGAGGAGCCATGGGGCACT	0.502									Hemochromatosis																													ENST00000357618.5																			0				endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1012-1014)gcC>gcT		hemochromatosis							134.0	109.0	117.0					6																	26094421		2203	4300	6503	SO:0001819	synonymous_variant	3077	Hemochromatosis	Familial Cancer Database		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	g.chr6:26094421C>T		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.1014C>T	6.37:g.26094421C>T						HFE_ENST00000309234.6_Intron|HFE_ENST00000461397.1_Silent_p.A324A|HFE_ENST00000349999.4_Silent_p.A250A|HFE_ENST00000397022.3_Silent_p.A315A|HFE_ENST00000336625.8_Silent_p.A232A|HFE_ENST00000488199.1_Silent_p.A236A|HFE_ENST00000317896.7_Silent_p.A246A|HFE_ENST00000352392.4_Silent_p.A66A|HFE_ENST00000470149.1_Silent_p.A335A|HFE_ENST00000353147.5_Silent_p.A158A	p.A338A	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN			6	1136	+			338					B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Silent	SNP	ENST00000357618.5	37	c.1014C>T	CCDS4578.1																																																																																				0.502	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1			10	50	0	0	0	1	0	10	50				
GAR1	54433	broad.mit.edu	37	4	110745576	110745576	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr4:110745576A>G	ENST00000226796.6	+	7	907	c.643A>G	c.(643-645)Aga>Gga	p.R215G	GAR1_ENST00000394631.3_Missense_Mutation_p.R215G	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	215	RGG-box 2.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TTAATCAGGGAGAGGACATTA	0.328																																						ENST00000226796.6																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						c.(643-645)Aga>Gga		GAR1 ribonucleoprotein							110.0	104.0	106.0					4																	110745576		2203	4300	6503	SO:0001583	missense	54433				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding	g.chr4:110745576A>G	AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"""nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)"", ""GAR1 ribonucleoprotein homolog (yeast)"""	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.643A>G	4.37:g.110745576A>G	ENSP00000226796:p.Arg215Gly					GAR1_ENST00000394631.3_Missense_Mutation_p.R215G	p.R215G	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN			7	907	+			215			RGG-box 2.		Q5MJQ2	Missense_Mutation	SNP	ENST00000226796.6	37	c.643A>G	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.906707	0.33628	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	.	.	.	5.1	5.1	0.69264	.	0.271361	0.34906	N	0.003589	T	0.32763	0.0840	N	0.08118	0	0.38204	D	0.940279	B;B	0.33238	0.403;0.281	B;B	0.30855	0.121;0.057	T	0.44544	-0.9321	9	0.72032	D	0.01	.	12.8593	0.57903	1.0:0.0:0.0:0.0	.	197;215	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	G	215	.	ENSP00000226796:R215G	R	+	1	2	GAR1	110965025	0.998000	0.40836	0.995000	0.50966	0.227000	0.25037	4.405000	0.59741	2.146000	0.66826	0.482000	0.46254	AGA		0.328	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363810.2			4	65	0	0	0	1	0	4	65				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	61	0	0	0	1	0	4	61				
LIMK1	3984	broad.mit.edu	37	7	73513495	73513495	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr7:73513495T>C	ENST00000336180.2	+	5	586	c.535T>C	c.(535-537)Tca>Cca	p.S179P	LIMK1_ENST00000538333.3_Missense_Mutation_p.S145P|LIMK1_ENST00000418310.1_Missense_Mutation_p.S209P|LIMK1_ENST00000491052.1_3'UTR	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	179	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GCGTGGACTTTCAGTCTCCAT	0.677																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(625-627)Tca>Cca		LIM domain kinase 1							149.0	117.0	128.0					7																	73513495		2203	4300	6503	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73513495T>C	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.535T>C	7.37:g.73513495T>C	ENSP00000336740:p.Ser179Pro					LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Missense_Mutation_p.S145P|LIMK1_ENST00000336180.2_Missense_Mutation_p.S179P	p.S209P			P53667	LIMK1_HUMAN			5	727	+		Lung NSC(55;0.137)	179			PDZ.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.625T>C	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443386	0.83993	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000423685;ENST00000538333	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.48	5.48	0.80851	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	M	0.71581	2.175	0.80722	D	1	D;P	0.76494	0.999;0.736	D;B	0.75020	0.985;0.445	T	0.56450	-0.7977	10	0.59425	D	0.04	-15.7839	13.5726	0.61856	0.0:0.0:0.0:1.0	.	145;179	B7Z6I8;P53667	.;LIMK1_HUMAN	P	209;179;179;145;145	ENSP00000409717:S209P;ENSP00000336740:S179P;ENSP00000396480:S145P;ENSP00000444452:S145P	ENSP00000336740:S179P	S	+	1	0	LIMK1	73151431	1.000000	0.71417	0.876000	0.34364	0.752000	0.42762	5.833000	0.69349	2.106000	0.64143	0.529000	0.55759	TCA		0.677	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		31	132	0	0	0	1	0	31	132				
BTG3	10950	broad.mit.edu	37	21	18966541	18966541	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr21:18966541G>A	ENST00000348354.6	-	5	885	c.629C>T	c.(628-630)cCa>cTa	p.P210L	BTG3_ENST00000339775.6_Missense_Mutation_p.P254L	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	210					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		ATAACCAAATGGAACAGGAGG	0.458																																						ENST00000339775.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8						c.(760-762)cCa>cTa		BTG family, member 3							145.0	127.0	133.0					21																	18966541		2203	4299	6502	SO:0001583	missense	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18966541G>A	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.629C>T	21.37:g.18966541G>A	ENSP00000284879:p.Pro210Leu					BTG3_ENST00000348354.6_Missense_Mutation_p.P210L	p.P254L	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	6	914	-			210					D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	c.761C>T	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945287	0.34283	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	4.12	4.12	0.48240	.	0.596067	0.16016	N	0.233545	T	0.46737	0.1408	N	0.14661	0.345	0.38541	D	0.949229	P;D	0.64830	0.6;0.994	B;P	0.62885	0.233;0.908	T	0.28618	-1.0038	9	0.02654	T	1	-3.403	12.1744	0.54178	0.0:0.0:1.0:0.0	.	254;210	Q14201-2;Q14201	.;BTG3_HUMAN	L	254;210	.	ENSP00000344609:P254L	P	-	2	0	BTG3	17888412	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.169000	0.58223	2.587000	0.87381	0.591000	0.81541	CCA		0.458	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		5	67	0	0	0	1	0	5	67				
EP400	57634	broad.mit.edu	37	12	132466834	132466834	+	Silent	SNP	G	G	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr12:132466834G>A	ENST00000333577.4	+	6	1957	c.1848G>A	c.(1846-1848)caG>caA	p.Q616Q	EP400_ENST00000332482.4_Silent_p.Q543Q|EP400_ENST00000389562.2_Silent_p.Q579Q|EP400_ENST00000330386.6_Silent_p.Q580Q|EP400_ENST00000389561.2_Silent_p.Q580Q			Q96L91	EP400_HUMAN	E1A binding protein p400	616					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTGCACAGCAGCCGCAAGTGG	0.657																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1846-1848)caG>caA		E1A binding protein p400							90.0	87.0	88.0					12																	132466834		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466834G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1848G>A	12.37:g.132466834G>A						EP400_ENST00000389562.2_Silent_p.Q579Q|EP400_ENST00000330386.6_Silent_p.Q580Q|EP400_ENST00000332482.4_Silent_p.Q543Q|EP400_ENST00000389561.2_Silent_p.Q580Q	p.Q616Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	6	1957	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	616					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.1848G>A																																																																																					0.657	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		18	99	0	0	0	1	0	18	99				
CLCA2	9635	broad.mit.edu	37	1	86919122	86919122	+	Silent	SNP	C	C	T			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr1:86919122C>T	ENST00000370565.4	+	13	2388	c.2226C>T	c.(2224-2226)agC>agT	p.S742S	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	742					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGGGCTTTAGCCGAGTCAGCT	0.463																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(2224-2226)agC>agT		chloride channel accessory 2							75.0	78.0	77.0					1																	86919122		2203	4300	6503	SO:0001819	synonymous_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86919122C>T		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2226C>T	1.37:g.86919122C>T						CLCA2_ENST00000498802.1_3'UTR	p.S742S	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	13	2388	+		Lung NSC(277;0.238)	742					A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	c.2226C>T	CCDS708.1																																																																																				0.463	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		4	51	0	0	0	1	0	4	51				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	76	0	0	0	1	0	15	76				
CCDC88B	283234	broad.mit.edu	37	11	64112395	64112395	+	Silent	SNP	G	G	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr11:64112395G>A	ENST00000356786.5	+	14	2426	c.2382G>A	c.(2380-2382)cgG>cgA	p.R794R	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	794						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCGGCTGCGGGAGGCAGTGG	0.741																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2380-2382)cgG>cgA		coiled-coil domain containing 88B							8.0	10.0	10.0					11																	64112395		2120	4150	6270	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64112395G>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2382G>A	11.37:g.64112395G>A						CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	p.R794R	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	2426	+			794					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.2382G>A	CCDS8072.2																																																																																				0.741	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		3	6	0	0	0	1	0	3	6				
PCDH19	57526	broad.mit.edu	37	X	99662610	99662610	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:99662610T>C	ENST00000373034.4	-	1	2661	c.986A>G	c.(985-987)cAc>cGc	p.H329R	PCDH19_ENST00000420881.2_Missense_Mutation_p.H329R|PCDH19_ENST00000255531.7_Missense_Mutation_p.H329R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	329	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GACCTTGCAGTGTGCCGGGAT	0.592																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(985-987)cAc>cGc		protocadherin 19							47.0	52.0	50.0					X																	99662610		2189	4272	6461	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662610T>C	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.986A>G	X.37:g.99662610T>C	ENSP00000362125:p.His329Arg					PCDH19_ENST00000420881.2_Missense_Mutation_p.H329R|PCDH19_ENST00000255531.7_Missense_Mutation_p.H329R	p.H329R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2661	-			329			Cadherin 3.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.986A>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546931	0.65198	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.48836	0.8;0.8;0.8	5.65	5.65	0.86999	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.63208	1.945	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.65619	-0.6124	10	0.42905	T	0.14	.	15.0094	0.71539	0.0:0.0:0.0:1.0	.	329;329;329	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	R	329	ENSP00000400327:H329R;ENSP00000362125:H329R;ENSP00000255531:H329R	ENSP00000255531:H329R	H	-	2	0	PCDH19	99549266	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.997000	0.88414	1.995000	0.58328	0.417000	0.27973	CAC		0.592	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		18	64	0	0	0	1	0	18	64				
COA6	388753	broad.mit.edu	37	1	234509403	234509403	+	5'Flank	SNP	C	C	G	rs117011051	byFrequency	TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr1:234509403C>G	ENST00000366613.1	+	0	0				RP5-827C21.4_ENST00000451795.1_RNA|RP5-827C21.6_ENST00000610233.1_RNA|COA6_ENST00000366615.4_Missense_Mutation_p.A64G|COA6_ENST00000366612.1_5'Flank	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)							mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)										CGAAAGGAAGCCGGACGTGGG	0.716													C|||	28	0.00559105	0.0008	0.0029	5008	,	,		15569	0.0228		0.001	False		,,,				2504	0.001					ENST00000366615.4																			0											c.(190-192)gCc>gGc		cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)																																				SO:0001631	upstream_gene_variant	388753							g.chr1:234509403C>G		CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"""Mitochondrial respiratory chain complex assembly factors"""	18025	protein-coding gene	gene with protein product		614772	"""chromosome 1 open reading frame 31"""	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945		1.37:g.234509403C>G	Exception_encountered						p.A64G	NM_001206641.1	NP_001193570.1					1	202	+								Q5JTJ2|Q5JTJ4|Q8TA88	Missense_Mutation	SNP	ENST00000366613.1	37	c.191C>G	CCDS31059.1	16	0.007326007326007326	0	0.0	3	0.008287292817679558	12	0.02097902097902098	1	0.0013192612137203166	C	10.81	1.455646	0.26161	.	.	ENSG00000168275	ENST00000366615;ENST00000424237	.	.	.	2.19	1.2	0.21068	.	.	.	.	.	T	0.20210	0.0486	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.18461	-1.0336	5	0.42905	T	0.14	.	5.7266	0.18017	0.3528:0.6472:0.0:0.0	.	.	.	.	G	64	.	ENSP00000355574:A64G	A	+	2	0	C1orf31	232576026	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.062000	0.11674	0.421000	0.25980	0.563000	0.77884	GCC		0.716	COA6-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092613.1	NM_001012985		7	142	0	0	0	1	0	7	142				
ZCCHC5	203430	broad.mit.edu	37	X	77913195	77913195	+	Silent	SNP	A	A	T			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:77913195A>T	ENST00000321110.1	-	2	1018	c.723T>A	c.(721-723)acT>acA	p.T241T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	241							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGAAGGTTAAAGTGTATTGCA	0.502																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(721-723)acT>acA		zinc finger, CCHC domain containing 5							26.0	25.0	25.0					X																	77913195		2203	4300	6503	SO:0001819	synonymous_variant	203430						nucleic acid binding|zinc ion binding	g.chrX:77913195A>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.723T>A	X.37:g.77913195A>T							p.T241T	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	1018	-			241					B2RMZ0|Q5JQE9	Silent	SNP	ENST00000321110.1	37	c.723T>A	CCDS14440.1																																																																																				0.502	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		9	33	0	0	0	1	0	9	33				
SAMM50	25813	broad.mit.edu	37	22	44377307	44377307	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr22:44377307C>T	ENST00000350028.4	+	11	1130	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	SAMM50_ENST00000396202.3_Missense_Mutation_p.P115S	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	325					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AATGTTGGTACCCATTGGTGA	0.388																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(973-975)Ccc>Tcc		SAMM50 sorting and assembly machinery component							215.0	191.0	199.0					22																	44377307		2203	4300	6503	SO:0001583	missense	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44377307C>T	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.973C>T	22.37:g.44377307C>T	ENSP00000345445:p.Pro325Ser					SAMM50_ENST00000396202.3_Missense_Mutation_p.P115S	p.P325S	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			11	1130	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	325					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	c.973C>T	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669612	0.47677	.	.	ENSG00000100347	ENST00000350028;ENST00000396202	T;T	0.41065	1.01;1.01	4.95	4.95	0.65309	Bacterial surface antigen (D15) (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	L	0.54323	1.7	0.80722	D	1	B;B	0.32968	0.392;0.387	B;B	0.35859	0.173;0.212	T	0.19976	-1.0289	10	0.21014	T	0.42	-27.2941	15.7342	0.77831	0.0:1.0:0.0:0.0	.	130;325	B3KUE6;Q9Y512	.;SAM50_HUMAN	S	325;115	ENSP00000345445:P325S;ENSP00000379505:P115S	ENSP00000345445:P325S	P	+	1	0	SAMM50	42708640	1.000000	0.71417	0.983000	0.44433	0.514000	0.34195	4.664000	0.61540	2.458000	0.83093	0.557000	0.71058	CCC		0.388	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		6	75	0	0	0	1	0	6	75				
MYOF	26509	broad.mit.edu	37	10	95072807	95072807	+	Silent	SNP	G	G	A	rs192250227		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr10:95072807G>A	ENST00000359263.4	-	51	5858	c.5859C>T	c.(5857-5859)taC>taT	p.Y1953Y	MYOF_ENST00000358334.5_Silent_p.Y1940Y|MYOF_ENST00000371502.4_Silent_p.Y1943Y|MYOF_ENST00000371501.4_Silent_p.Y1953Y	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1953					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTTCTCTGCGTAGCATGGCC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		21475	0.001		0.0	False		,,,				2504	0.0					ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(5857-5859)taC>taT		myoferlin							352.0	336.0	341.0					10																	95072807		1935	4132	6067	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95072807G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5859C>T	10.37:g.95072807G>A						MYOF_ENST00000358334.5_Silent_p.Y1940Y|MYOF_ENST00000371502.4_Silent_p.Y1943Y|MYOF_ENST00000359263.4_Silent_p.Y1953Y	p.Y1953Y			Q9NZM1	MYOF_HUMAN			51	5981	-			1953					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.5859C>T	CCDS41551.1																																																																																				0.473	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		28	436	0	0	0	1	0	28	436				
MROH2B	133558	broad.mit.edu	37	5	41015559	41015559	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:41015559C>A	ENST00000399564.4	-	29	3356	c.2906G>T	c.(2905-2907)aGa>aTa	p.R969I	MROH2B_ENST00000506092.2_Missense_Mutation_p.R524I	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	969																	ACCCTGCAGTCTTTCCACTTC	0.413																																						ENST00000399564.4																			0											c.(2905-2907)aGa>aTa		maestro heat-like repeat family member 2B							79.0	79.0	79.0					5																	41015559		1864	4094	5958	SO:0001583	missense	133558							g.chr5:41015559C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2906G>T	5.37:g.41015559C>A	ENSP00000382476:p.Arg969Ile					MROH2B_ENST00000506092.2_Missense_Mutation_p.R524I	p.R969I	NM_173489.4	NP_775760.3					29	3356	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2906G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.169879	0.57584	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.61274	0.12;0.12	5.9	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.34411	U	0.003990	T	0.48095	0.1481	N	0.19112	0.55	0.44595	D	0.997566	D	0.53151	0.958	P	0.51135	0.66	T	0.49163	-0.8968	10	0.62326	D	0.03	.	6.8974	0.24262	0.0:0.8591:0.0:0.1409	.	969	Q7Z745	HTRB2_HUMAN	I	524;674;969	ENSP00000441504:R524I;ENSP00000382476:R969I	ENSP00000296803:R674I	R	-	2	0	HEATR7B2	41051316	0.999000	0.42202	0.903000	0.35520	0.334000	0.28698	1.350000	0.34010	2.806000	0.96561	0.655000	0.94253	AGA		0.413	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		9	36	1	0	0.00621372	1	0.00621372	9	36				
HNRNPA0	10949	broad.mit.edu	37	5	137089402	137089402	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:137089402G>T	ENST00000314940.4	-	1	637	c.354C>A	c.(352-354)ttC>ttA	p.F118L		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	118	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAACTGCGAGAAGTGCTCGA	0.587																																						ENST00000314940.4																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(352-354)ttC>ttA		heterogeneous nuclear ribonucleoprotein A0							77.0	76.0	76.0					5																	137089402		2203	4300	6503	SO:0001583	missense	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089402G>T	U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"""RNA binding motif (RRM) containing"""	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.354C>A	5.37:g.137089402G>T	ENSP00000316042:p.Phe118Leu						p.F118L	NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	637	-			118			RRM 2.		Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	c.354C>A	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401756	0.83120	.	.	ENSG00000177733	ENST00000314940	T	0.43294	0.95	4.97	4.1	0.47936	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.67655	0.2916	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.74188	-0.3746	10	0.87932	D	0	.	13.4837	0.61353	0.0766:0.0:0.9234:0.0	.	118	Q13151	ROA0_HUMAN	L	118	ENSP00000316042:F118L	ENSP00000316042:F118L	F	-	3	2	HNRNPA0	137117301	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.546000	0.36179	1.087000	0.41251	0.305000	0.20034	TTC		0.587	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		31	71	1	0	1.06801e-11	1	1.17071e-11	31	71				
ARAP3	64411	broad.mit.edu	37	5	141035828	141035828	+	Missense_Mutation	SNP	G	G	A	rs539283748		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:141035828G>A	ENST00000239440.4	-	28	3870	c.3805C>T	c.(3805-3807)Cgg>Tgg	p.R1269W	ARAP3_ENST00000513878.1_Missense_Mutation_p.R931W|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R1100W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1269	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGCCACTCCCGTTCTGGTTTA	0.522																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3805-3807)Cgg>Tgg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							77.0	83.0	81.0					5																	141035828		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141035828G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3805C>T	5.37:g.141035828G>A	ENSP00000239440:p.Arg1269Trp					ARAP3_ENST00000513878.1_Missense_Mutation_p.R931W|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R1100W	p.R1269W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			28	3870	-			1269			PH 3.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3805C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957612	0.73902	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.12672	2.66;2.66;2.66	5.14	5.14	0.70334	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.058853	0.64402	D	0.000004	T	0.31606	0.0802	L	0.55481	1.735	0.49130	D	0.999755	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.969;0.952;0.98	T	0.01172	-1.1429	10	0.87932	D	0	.	13.5137	0.61528	0.0:0.0:0.8435:0.1564	.	931;1100;1269	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	W	1100;1269;931	ENSP00000421826:R1100W;ENSP00000239440:R1269W;ENSP00000421468:R931W	ENSP00000239440:R1269W	R	-	1	2	ARAP3	141016012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.927000	0.48900	2.547000	0.85894	0.591000	0.81541	CGG		0.522	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		7	111	0	0	0	1	0	7	111				
MAGEC1	9947	broad.mit.edu	37	X	140994428	140994428	+	Missense_Mutation	SNP	C	C	A	rs201520870		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:140994428C>A	ENST00000285879.4	+	4	1524	c.1238C>A	c.(1237-1239)aCc>aAc	p.T413N	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	413										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCTATGACCTCCTCCTTC	0.463										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1237-1239)aCc>aAc		melanoma antigen family C, 1							117.0	128.0	124.0					X																	140994428		2198	4290	6488	SO:0001583	missense	9947						protein binding	g.chrX:140994428C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1238C>A	X.37:g.140994428C>A	ENSP00000285879:p.Thr413Asn	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.T413N	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1524	+	Acute lymphoblastic leukemia(192;6.56e-05)		413					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1238C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.302443	0.00243	.	.	ENSG00000155495	ENST00000285879	T	0.02421	4.3	.	.	.	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.45891	-0.9230	7	0.49607	T	0.09	.	.	.	.	.	413	O60732	MAGC1_HUMAN	N	413	ENSP00000285879:T413N	ENSP00000285879:T413N	T	+	2	0	MAGEC1	140822094	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-2.523000	0.00949	-1.935000	0.01049	-1.943000	0.00494	ACC		0.463	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		11	316	1	0	2.80697e-09	1	3.01882e-09	11	316				
BAZ1B	9031	broad.mit.edu	37	7	72925148	72925148	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr7:72925148G>A	ENST00000339594.4	-	2	480	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R48C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	48	Mediates the tyrosine-protein kinase activity.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTCCAAATGCGCTCACTGTAC	0.463																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(142-144)Cgc>Tgc		bromodomain adjacent to zinc finger domain, 1B							230.0	193.0	205.0					7																	72925148		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72925148G>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.142C>T	7.37:g.72925148G>A	ENSP00000342434:p.Arg48Cys					BAZ1B_ENST00000404251.1_Missense_Mutation_p.R48C	p.R48C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			2	480	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	48			Mediates the tyrosine-protein kinase activity.|WAC.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.142C>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288184	0.80803	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.61158	0.13;0.13	5.5	5.5	0.81552	WSTF/Acf1/Cbp146 (2);	0.056531	0.64402	D	0.000001	T	0.75064	0.3799	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76699	-0.2863	10	0.59425	D	0.04	-15.4419	13.2218	0.59892	0.0:0.0:0.7327:0.2673	.	48	Q9UIG0	BAZ1B_HUMAN	C	48	ENSP00000342434:R48C;ENSP00000385442:R48C	ENSP00000342434:R48C	R	-	1	0	BAZ1B	72563084	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.958000	0.63660	2.748000	0.94277	0.655000	0.94253	CGC		0.463	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		30	87	0	0	0	1	0	30	87				
PRKCG	5582	broad.mit.edu	37	19	54395814	54395814	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr19:54395814C>G	ENST00000263431.3	+	7	1020	c.738C>G	c.(736-738)gaC>gaG	p.D246E	PRKCG_ENST00000542049.1_Missense_Mutation_p.D133E|PRKCG_ENST00000536044.1_Missense_Mutation_p.D246E|PRKCG_ENST00000540413.1_Missense_Mutation_p.D246E	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	246	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	AGGTGTGGGACTGGGACCGGA	0.672																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(736-738)gaC>gaG		protein kinase C, gamma							57.0	43.0	48.0					19																	54395814		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54395814C>G	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.738C>G	19.37:g.54395814C>G	ENSP00000263431:p.Asp246Glu					PRKCG_ENST00000540413.1_Missense_Mutation_p.D246E|PRKCG_ENST00000542049.1_Missense_Mutation_p.D133E|PRKCG_ENST00000536044.1_Missense_Mutation_p.D246E	p.D246E	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	7	1020	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		246			C2.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.738C>G	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026307	0.54683	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.24	0.842	0.18927	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.69620	0.3131	M	0.75615	2.305	0.40199	D	0.977496	P;P;D;D;B	0.89917	0.601;0.542;1.0;0.963;0.226	B;P;D;P;B	0.76575	0.288;0.517;0.988;0.839;0.339	T	0.68021	-0.5519	9	0.56958	D	0.05	.	7.0799	0.25225	0.0:0.67:0.0:0.33	.	133;246;246;246;246	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	E	246;246;246;133	ENSP00000440541:D246E;ENSP00000443493:D246E;ENSP00000263431:D246E;ENSP00000438090:D133E	ENSP00000263431:D246E	D	+	3	2	PRKCG	59087626	1.000000	0.71417	0.997000	0.53966	0.774000	0.43823	2.136000	0.42121	0.333000	0.23563	-0.266000	0.10368	GAC		0.672	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		4	19	0	0	0	1	0	4	19				
ZNF645	158506	broad.mit.edu	37	X	22291314	22291314	+	Missense_Mutation	SNP	G	G	A	rs571107659		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:22291314G>A	ENST00000323684.1	+	1	250	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	69					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ATCTATGGGCGAATAATTCCG	0.383																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(205-207)cGa>cAa		zinc finger protein 645							70.0	65.0	67.0					X																	22291314		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22291314G>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.206G>A	X.37:g.22291314G>A	ENSP00000323348:p.Arg69Gln						p.R69Q	NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN			1	250	+			69					A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.206G>A	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595259	0.66219	.	.	ENSG00000175809	ENST00000323684	T	0.59364	0.27	3.23	0.391	0.16282	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.64402	U	0.000001	T	0.52075	0.1712	M	0.72894	2.215	0.33244	D	0.557639	D	0.55172	0.97	P	0.44732	0.459	T	0.61407	-0.7069	10	0.87932	D	0	.	4.5768	0.12238	0.2382:0.1823:0.5795:0.0	.	69	Q8N7E2	ZN645_HUMAN	Q	69	ENSP00000323348:R69Q	ENSP00000323348:R69Q	R	+	2	0	ZNF645	22201235	0.111000	0.22076	0.002000	0.10522	0.374000	0.29953	1.423000	0.34837	-0.026000	0.13895	0.436000	0.28706	CGA		0.383	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		24	93	0	0	0	1	0	24	93				
KDR	3791	broad.mit.edu	37	4	55960997	55960997	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr4:55960997C>G	ENST00000263923.4	-	21	3238	c.2943G>C	c.(2941-2943)aaG>aaC	p.K981N	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	981	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACTGAGGGACTTCTCCTCCA	0.522			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2941-2943)aaG>aaC		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						148.0	143.0	144.0					4																	55960997		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55960997C>G	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2943G>C	4.37:g.55960997C>G	ENSP00000263923:p.Lys981Asn	TSP Lung(20;0.16)					p.K981N	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		21	3238	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		981			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2943G>C	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199370	0.58126	.	.	ENSG00000128052	ENST00000263923	T	0.77750	-1.12	5.87	-7.14	0.01527	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.276305	0.40554	N	0.001074	T	0.62612	0.2442	L	0.33339	1.005	0.36586	D	0.873802	P	0.34743	0.466	B	0.33960	0.173	T	0.51044	-0.8755	10	0.23891	T	0.37	.	18.7732	0.91900	0.0:0.6535:0.0:0.3465	.	981	P35968	VGFR2_HUMAN	N	981	ENSP00000263923:K981N	ENSP00000263923:K981N	K	-	3	2	KDR	55655754	0.084000	0.21492	0.854000	0.33618	0.987000	0.75469	-0.690000	0.05138	-1.365000	0.02158	-0.150000	0.13652	AAG		0.522	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			26	123	0	0	0	1	0	26	123				
DGKK	139189	broad.mit.edu	37	X	50127815	50127815	+	RNA	SNP	A	A	C			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:50127815A>C	ENST00000376025.2	-	0	2414							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCTTTCCTCATCCAGAGCTA	0.453																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							92.0	84.0	87.0					X																	50127815		1864	4088	5952			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50127815A>C	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50127815A>C										Q5KSL6	DGKK_HUMAN			0	2414	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.453	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		13	92	0	0	0	1	0	13	92				
EGFR	1956	broad.mit.edu	37	7	55214348	55214348	+	Silent	SNP	C	C	T	rs2072454	byFrequency	TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr7:55214348C>T	ENST00000275493.2	+	4	651	c.474C>T	c.(472-474)aaC>aaT	p.N158N	EGFR_ENST00000420316.2_Silent_p.N158N|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000342916.3_Silent_p.N158N|EGFR_ENST00000454757.2_Silent_p.N105N|EGFR_ENST00000344576.2_Silent_p.N158N|EGFR_ENST00000442591.1_Silent_p.N158N	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	158			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.N158N(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCCTGTGCAACGTGGAGAGCA	0.547		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C|||	2381	0.475439	0.4932	0.4928	5008	,	,		18168	0.3522		0.4841	False		,,,				2504	0.5573					ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - coding silent(1)	p.N158N(1)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(472-474)aaC>aaT		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	C	,,,	2183,2223	586.2+/-386.4	558,1067,578	113.0	95.0	101.0		474,474,474,474	2.0	1.0	7	dbSNP_96	101	4517,4083	592.7+/-393.0	1187,2143,970	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EGFR	NM_005228.3,NM_201282.1,NM_201283.1,NM_201284.1	,,,	1745,3210,1548	TT,TC,CC		47.4767,49.5461,48.4853	,,,	158/1211,158/629,158/406,158/706	55214348	6700,6306	2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55214348C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.474C>T	7.37:g.55214348C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Silent_p.N158N|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000454757.2_Silent_p.N105N|EGFR_ENST00000342916.3_Silent_p.N158N|EGFR_ENST00000344576.2_Silent_p.N158N|EGFR_ENST00000420316.2_Silent_p.N158N	p.N158N	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		4	651	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		158					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.474C>T	CCDS5514.1	992	0.4542124542124542	231	0.4695121951219512	169	0.46685082872928174	214	0.3741258741258741	378	0.49868073878627966	C	8.281	0.815468	0.16607	0.495461	0.525233	ENSG00000146648	ENST00000395504	.	.	.	5.6	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.999999999685169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7571	0.34652	0.0:0.6122:0.0:0.3878	rs2072454;rs17289679;rs17516844;rs2072454	.	.	.	.	-1	.	.	.	+	.	.	EGFR	55181842	0.692000	0.27719	0.987000	0.45799	0.655000	0.38815	1.216000	0.32443	0.544000	0.28883	-0.136000	0.14681	.		0.547	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		5	60	0	0	0	1	0	5	60				
UGT2B11	10720	broad.mit.edu	37	4	70070265	70070265	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr4:70070265T>C	ENST00000446444.1	-	5	1201	c.1193A>G	c.(1192-1194)gAt>gGt	p.D398G	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	398					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATCAGGTTGATCAAAAAACAA	0.448																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1192-1194)gAt>gGt		UDP glucuronosyltransferase 2 family, polypeptide B11							173.0	167.0	169.0					4																	70070265		2203	4300	6503	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70070265T>C	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1193A>G	4.37:g.70070265T>C	ENSP00000387683:p.Asp398Gly					RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	p.D398G	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			5	1201	-			398					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.1193A>G	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	7.146	0.582722	0.13749	.	.	ENSG00000213759	ENST00000446444	T	0.80214	-1.35	1.96	1.96	0.26148	.	0.070456	0.53938	U	0.000047	D	0.85071	0.5613	M	0.93375	3.41	0.30570	N	0.763598	P	0.42456	0.78	P	0.45310	0.476	D	0.84157	0.0426	10	0.87932	D	0	.	7.5503	0.27793	0.0:0.0:0.0:1.0	.	398	O75310	UDB11_HUMAN	G	398	ENSP00000387683:D398G	ENSP00000387683:D398G	D	-	2	0	UGT2B11	70104854	1.000000	0.71417	0.227000	0.23927	0.008000	0.06430	6.830000	0.75319	0.898000	0.36418	0.155000	0.16302	GAT		0.448	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		14	211	0	0	0	1	0	14	211				
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G	rs200755405		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr11:118629613_118629614insG	ENST00000526070.2	-	9	1225		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000264018.4_Splice_Site	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.e9-2		DEAD (Asp-Glu-Ala-Asp) box helicase 6				28,3478		0,28,1725						5.8	1.0			104	55,7749		0,55,3847	no	splice-3	DDX6	NM_004397.4		0,83,5572	A1A1,A1R,RR		0.7048,0.7986,0.7339				83,11227				SO:0001630	splice_region_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118629613_118629614insG	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.865-2->C	11.37:g.118629621_118629621dupG						DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site		NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	9	1170	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)						Q5D048	Splice_Site	INS	ENST00000526070.2	37		CCDS44751.1																																																																																				0.426	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	Intron	7	173						7	173	---	---	---	---
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr11:125505377_125505378insA	ENST00000534070.1	+	7	922_923	c.667_668insA	c.(667-669)gaafs	p.E223fs	CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.E239fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> V (in dbSNP:rs35817404). {ECO:0000269|PubMed:17344846}.		cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes																														ENST00000534070.1																			0				central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(667-669)aaafs	Other conserved DNA damage response genes	checkpoint kinase 1																																				SO:0001589	frameshift_variant	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125505377_125505378insA	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.676dupA	11.37:g.125505386_125505386dupA	ENSP00000435371:p.Glu223fs					CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs	p.K223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	7	922_923	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	223		E -> V (in dbSNP:rs35817404).	Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Frame_Shift_Ins	INS	ENST00000534070.1	37	c.667_668insA	CCDS8459.1																																																																																				0.361	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		7	153						7	153	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50377684	50377685	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:50377684_50377685insG	ENST00000289292.7	-	4	1671_1672	c.1388_1389insC	c.(1387-1389)cctfs	p.P463fs	SHROOM4_ENST00000376020.2_Frame_Shift_Ins_p.P463fs|SHROOM4_ENST00000460112.3_Frame_Shift_Ins_p.P347fs			Q9ULL8	SHRM4_HUMAN	shroom family member 4	463					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTCCTCCTGTAGGGGGGCATGG	0.554																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1387-1389)cacfs		shroom family member 4																																				SO:0001589	frameshift_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377684_50377685insG	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1389dupC	X.37:g.50377690_50377690dupG	ENSP00000289292:p.Pro463fs					SHROOM4_ENST00000460112.3_Frame_Shift_Ins_p.H347fs|SHROOM4_ENST00000289292.7_Frame_Shift_Ins_p.H463fs	p.H463fs	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1413_1414	-	Ovarian(276;0.236)		463					A7E2X9|D6RFW0|Q96LA0	Frame_Shift_Ins	INS	ENST00000289292.7	37	c.1388_1389insC	CCDS35277.1																																																																																				0.554	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		13	135						13	135	---	---	---	---
