#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
KCNK3	3777	broad.mit.edu	37	2	26950601	26950601	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr2:26950601G>A	ENST00000302909.3	+	2	475	c.350G>A	c.(349-351)gGc>gAc	p.G117D		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	117					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GCGCTGCTGGGCATCCCGCTC	0.632																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(349-351)gGc>gAc		potassium channel, subfamily K, member 3							116.0	107.0	110.0					2																	26950601		2203	4300	6503	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950601G>A	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.350G>A	2.37:g.26950601G>A	ENSP00000306275:p.Gly117Asp		Somatic					p.G117D	NM_002246.2	NP_002237.1	WXS	Illumina GAIIx	Phase_I	O14649	KCNK3_HUMAN			2	475	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.350G>A	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555795	0.86231	.	.	ENSG00000171303	ENST00000302909	T	0.61980	0.06	5.27	5.27	0.74061	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.86222	0.5881	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90657	0.4587	10	0.87932	D	0	.	16.7393	0.85455	0.0:0.0:1.0:0.0	.	117	O14649	KCNK3_HUMAN	D	117	ENSP00000306275:G117D	ENSP00000306275:G117D	G	+	2	0	KCNK3	26804105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.619000	0.88677	0.561000	0.74099	GGC		0.632	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		4	161	0	0	0	0.150653	0	4	161				
CFAP44	55779	broad.mit.edu	37	3	113115480	113115480	+	Missense_Mutation	SNP	G	G	A	rs145391746		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr3:113115480G>A	ENST00000295868.2	-	14	1826	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000393845.2_Missense_Mutation_p.A555V	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTTCCGTCCCGCAAAAATCGT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		17612	0.0		0.001	False		,,,				2504	0.0					ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(1663-1665)gCg>gTg		WD repeat domain 52		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	94.0	97.0	96.0		1664,1664	3.5	0.5	3	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	WDR52	NM_001164496.1,NM_018338.3	64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	555/1855,555/983	113115480	2,13004	2203	4300	6503	SO:0001583	missense	55779							g.chr3:113115480G>A																												ENST00000295868.2:c.1664C>T	3.37:g.113115480G>A	ENSP00000295868:p.Ala555Val		Somatic				WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000295868.2_Missense_Mutation_p.A555V	p.A555V	NM_001164496.1	NP_001157968.1	WXS	Illumina GAIIx	Phase_I	Q96MT7	WDR52_HUMAN			14	1730	-			555						Missense_Mutation	SNP	ENST00000295868.2	37	c.1664C>T	CCDS2972.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.112	0.576189	0.13623	2.27E-4	1.16E-4	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.65732	-0.17;0.79	5.39	3.55	0.40652	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.53802	0.1819	L	0.44542	1.39	0.30702	N	0.750186	B	0.14012	0.009	B	0.08055	0.003	T	0.49194	-0.8965	9	0.28530	T	0.3	.	13.7098	0.62661	0.1466:0.0:0.8534:0.0	.	555	Q96MT7	WDR52_HUMAN	V	555	ENSP00000377428:A555V;ENSP00000295868:A555V	ENSP00000295868:A555V	A	-	2	0	WDR52	114598170	1.000000	0.71417	0.459000	0.27081	0.019000	0.09904	4.380000	0.59581	0.331000	0.23511	-0.797000	0.03246	GCG		0.398	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			4	163	0	0	0	0.150653	0	4	163				
FAM66D	100132923	broad.mit.edu	37	8	11986719	11986719	+	RNA	SNP	G	G	C	rs182717706	byFrequency	TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr8:11986719G>C	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		TGGATTTCAGGAAAAGCTGCA	0.522													C|||	6	0.00119808	0.003	0.0	5008	,	,		23680	0.0		0.0	False		,,,				2504	0.002					ENST00000434078.2																			0																																																			100132923							g.chr8:11986719G>C			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11986719G>C			Somatic						NR_027425.1		WXS	Illumina GAIIx	Phase_I					0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.522	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		4	164	0	0	0	0.038147	0	4	164				
OR13C8	138802	broad.mit.edu	37	9	107331658	107331658	+	Silent	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr9:107331658C>T	ENST00000335040.1	+	1	210	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CCTTCCTCGACGTTTGCTACA	0.423																																						ENST00000335040.1																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(208-210)gaC>gaT		olfactory receptor, family 13, subfamily C, member 8							279.0	261.0	267.0					9																	107331658		2203	4300	6503	SO:0001819	synonymous_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331658C>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.210C>T	9.37:g.107331658C>T			Somatic					p.D70D	NM_001004483.1	NP_001004483.1	WXS	Illumina GAIIx	Phase_I	Q8NGS7	O13C8_HUMAN			1	210	+			70					Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	c.210C>T	CCDS35090.1																																																																																				0.423	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			7	523	0	0	0	0.029380	0	7	523				
MYBPHL	343263	broad.mit.edu	37	1	109838960	109838960	+	Nonsense_Mutation	SNP	G	G	A	rs139849511		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr1:109838960G>A	ENST00000357155.1	-	6	812	c.763C>T	c.(763-765)Cga>Tga	p.R255*	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	255								p.R255*(1)		central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GAGAAGTCTCGTTGGGCAAAC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		16565	0.0		0.001	False		,,,				2504	0.0					ENST00000357155.1																			1	Substitution - Nonsense(1)	p.R255*(1)	large_intestine(1)	central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14						c.(763-765)Cga>Tga		myosin binding protein H-like		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	102.0	102.0		763	0.8	1.0	1	dbSNP_134	102	8,8592	7.1+/-27.0	0,8,4292	yes	stop-gained	MYBPHL	NM_001010985.2		0,9,6494	AA,AG,GG		0.093,0.0227,0.0692		255/355	109838960	9,12997	2203	4300	6503	SO:0001587	stop_gained	343263							g.chr1:109838960G>A	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.763C>T	1.37:g.109838960G>A	ENSP00000349678:p.Arg255*		Somatic				MYBPHL_ENST00000477962.1_Intron	p.R255*	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	WXS	Illumina GAIIx	Phase_I	A2RUH7	MBPHL_HUMAN		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	6	812	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	255					B7ZME5|Q5T2Z7	Nonsense_Mutation	SNP	ENST00000357155.1	37	c.763C>T	CCDS30793.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.796650	0.96952	2.27E-4	9.3E-4	ENSG00000221986	ENST00000357155	.	.	.	5.01	0.756	0.18421	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	5.1758	0.15133	0.1678:0.0:0.5436:0.2886	.	.	.	.	X	255	.	ENSP00000349678:R255X	R	-	1	2	MYBPHL	109640483	0.083000	0.21467	0.978000	0.43139	0.899000	0.52679	0.629000	0.24538	0.667000	0.31107	0.561000	0.74099	CGA		0.552	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		4	102	0	0	0	0.150653	0	4	102				
MUC17	140453	broad.mit.edu	37	7	100682390	100682390	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr7:100682390C>A	ENST00000306151.4	+	3	7757	c.7693C>A	c.(7693-7695)Cct>Act	p.P2565T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2565	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCTACCTCAAC	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7693-7695)Cct>Act		mucin 17, cell surface associated							259.0	258.0	258.0					7																	100682390		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682390C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7693C>A	7.37:g.100682390C>A	ENSP00000302716:p.Pro2565Thr		Somatic					p.P2565T	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	7757	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2565			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7693C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	3.256	-0.152183	0.06585	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	0.953	-0.621	0.11564	.	.	.	.	.	T	0.01870	0.0059	N	0.17082	0.46	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.49051	-0.8979	9	0.10377	T	0.69	.	2.3516	0.04285	0.0:0.3537:0.3098:0.3365	.	2565	Q685J3	MUC17_HUMAN	T	2565	ENSP00000302716:P2565T	ENSP00000302716:P2565T	P	+	1	0	MUC17	100469110	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.400000	0.02504	-0.203000	0.10251	0.134000	0.15878	CCT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		149	306	1	0	5.47995e-64	0.139131	6.99568e-64	149	306				
TADA2B	93624	broad.mit.edu	37	4	7056535	7056535	+	Silent	SNP	C	C	T	rs377183651		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr4:7056535C>T	ENST00000310074.7	+	2	1206	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	TADA2B_ENST00000512388.1_Silent_p.F264F|TADA2B_ENST00000515646.1_Silent_p.F247F	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	339					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						ACAGCGAGTTCGCCGCCATTG	0.562																																						ENST00000310074.7																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						c.(1015-1017)ttC>ttT		transcriptional adaptor 2B		C		0,3948		0,0,1974	65.0	73.0	70.0		1017	-2.9	0.4	4		70	2,8310		0,2,4154	no	coding-synonymous	TADA2B	NM_152293.2		0,2,6128	TT,TC,CC		0.0241,0.0,0.0163		339/421	7056535	2,12258	1974	4156	6130	SO:0001819	synonymous_variant	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056535C>T	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.1017C>T	4.37:g.7056535C>T			Somatic				TADA2B_ENST00000515646.1_Silent_p.F247F|TADA2B_ENST00000512388.1_Silent_p.F264F	p.F339F	NM_152293.2	NP_689506.2	WXS	Illumina GAIIx	Phase_I	Q86TJ2	TAD2B_HUMAN			2	1206	+			339					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	ENST00000310074.7	37	c.1017C>T	CCDS47007.1																																																																																				0.562	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		5	90	0	0	0	0.014758	0	5	90				
IGDCC3	9543	broad.mit.edu	37	15	65667723	65667723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr15:65667723C>A	ENST00000327987.4	-	2	372	c.121G>T	c.(121-123)Gaa>Taa	p.E41*		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	41	Ig-like C2-type 1.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AATGCCAGTTCAGCAGAGTGG	0.552																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(121-123)Gaa>Taa		immunoglobulin superfamily, DCC subclass, member 3							30.0	27.0	28.0					15																	65667723		2201	4299	6500	SO:0001587	stop_gained	9543							g.chr15:65667723C>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.121G>T	15.37:g.65667723C>A	ENSP00000332773:p.Glu41*		Somatic					p.E41*	NM_004884.3	NP_004875.2	WXS	Illumina GAIIx	Phase_I	Q8IVU1	IGDC3_HUMAN			2	372	-			41			Ig-like C2-type 1.		O95215	Nonsense_Mutation	SNP	ENST00000327987.4	37	c.121G>T	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	36	5.724225	0.96847	.	.	ENSG00000174498	ENST00000327987	.	.	.	5.63	5.63	0.86233	.	0.198194	0.42172	D	0.000742	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-17.5872	19.7096	0.96089	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000332773:E41X	E	-	1	0	IGDCC3	63454776	1.000000	0.71417	0.922000	0.36590	0.012000	0.07955	7.687000	0.84139	2.652000	0.90054	0.655000	0.94253	GAA		0.552	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		3	29	1	0	0.115264	0.115264	0.117218	3	29				
ABCC6	368	broad.mit.edu	37	16	16295884	16295884	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr16:16295884C>T	ENST00000205557.7	-	9	1179	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	384	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CCAGTGATGGCCGACCGCAAC	0.572																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(1150-1152)Gcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							101.0	85.0	91.0					16																	16295884		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16295884C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1150G>A	16.37:g.16295884C>T	ENSP00000205557:p.Ala384Thr		Somatic				ABCC6_ENST00000574094.1_5'UTR	p.A384T	NM_001171.5	NP_001162.4	WXS	Illumina GAIIx	Phase_I	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	9	1179	-			384			ABC transmembrane type-1 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.1150G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	.	18.53	3.643369	0.67244	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.89485	-2.52;-2.52	4.33	4.33	0.51752	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.47093	U	0.000258	D	0.92899	0.7741	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93476	0.6823	10	0.66056	D	0.02	.	13.8144	0.63283	0.0:1.0:0.0:0.0	.	396;384	F5GWQ0;O95255	.;MRP6_HUMAN	T	384;384;396	ENSP00000205557:A384T;ENSP00000405002:A384T	ENSP00000205557:A384T	A	-	1	0	ABCC6	16203385	1.000000	0.71417	0.073000	0.20177	0.135000	0.20990	6.765000	0.74965	1.961000	0.56991	0.485000	0.47835	GCC		0.572	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			4	161	0	0	0	0.014758	0	4	161				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln		Somatic				MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	WXS	Illumina GAIIx	Phase_I	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	0	0	0	0	0.150653	0	4	0				
MYOF	26509	broad.mit.edu	37	10	95216640	95216640	+	Splice_Site	SNP	T	T	C			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr10:95216640T>C	ENST00000359263.4	-	2	142	c.143A>G	c.(142-144)gAg>gGg	p.E48G	MYOF_ENST00000371502.4_Splice_Site_p.E48G|MYOF_ENST00000358334.5_Splice_Site_p.E48G|MYOF_ENST00000371501.4_Splice_Site_p.E48G|MYOF_ENST00000371488.3_Splice_Site_p.E48G|MYOF_ENST00000371489.1_Splice_Site_p.E48G	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	48	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						TGAAGTCACCTCATTCCAGAC	0.333																																						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.e2+1		myoferlin							140.0	145.0	143.0					10																	95216640		1836	4083	5919	SO:0001630	splice_region_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95216640T>C	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.144+1A>G	10.37:g.95216640T>C			Somatic				MYOF_ENST00000371489.1_Splice_Site_p.E48_splice|MYOF_ENST00000371502.4_Splice_Site_p.E48_splice|MYOF_ENST00000358334.5_Splice_Site_p.E48_splice|MYOF_ENST00000359263.4_Splice_Site_p.E48_splice|MYOF_ENST00000371488.3_Splice_Site_p.E48_splice	p.E48_splice			WXS	Illumina GAIIx	Phase_I	Q9NZM1	MYOF_HUMAN			2	265	-			48			C2 1.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Splice_Site	SNP	ENST00000359263.4	37	c.144_splice	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967684	0.74131	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489;ENST00000371488	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	4.59	4.59	0.56863	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.058257	0.64402	D	0.000003	D	0.91549	0.7331	H	0.97340	3.985	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93618	0.6945	10	0.87932	D	0	-19.6399	11.8591	0.52454	0.0:0.0:0.0:1.0	.	30;48;48	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	G	48	ENSP00000351094:E48G;ENSP00000352208:E48G;ENSP00000360556:E48G;ENSP00000360557:E48G;ENSP00000360544:E48G;ENSP00000360543:E48G	ENSP00000351094:E48G	E	-	2	0	MYOF	95206630	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.291000	0.65667	2.044000	0.60594	0.533000	0.62120	GAG		0.333	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	Missense_Mutation	3	128	0	0	0	0.150653	0	3	128				
MTRR	4552	broad.mit.edu	37	5	7895897	7895897	+	Silent	SNP	C	C	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr5:7895897C>A	ENST00000264668.2	+	12	1719	c.1689C>A	c.(1687-1689)ccC>ccA	p.P563P	MTRR_ENST00000440940.2_Silent_p.P536P	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	563					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CAGATGACCCCTCAATCCCCA	0.408																																						ENST00000264668.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31						c.(1687-1689)ccC>ccA		5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						144.0	144.0	144.0					5																	7895897		2203	4300	6503	SO:0001819	synonymous_variant	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7895897C>A	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1689C>A	5.37:g.7895897C>A			Somatic				MTRR_ENST00000440940.2_Silent_p.P536P	p.P563P	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	WXS	Illumina GAIIx	Phase_I	Q9UBK8	MTRR_HUMAN			12	1719	+			563					O60471|Q32MA9|Q7Z4M8	Silent	SNP	ENST00000264668.2	37	c.1689C>A	CCDS3874.1																																																																																				0.408	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			5	373	1	0	8.12818e-05	0.029380	9.56257e-05	5	373				
TP53	7157	broad.mit.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr17:7578272G>A	ENST00000269305.4	-	6	766	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000420246.2_Missense_Mutation_p.H193Y|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGATAAGATGCTGAGGAGGG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		85	Substitution - Missense(52)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1)	breast(14)|lung(12)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(7)|ovary(6)|upper_aerodigestive_tract(5)|liver(5)|oesophagus(5)|central_nervous_system(4)|skin(4)|bone(4)|large_intestine(3)|stomach(2)|urinary_tract(2)|pancreas(2)|adrenal_gland(1)|soft_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(577-579)Cat>Tat	Other conserved DNA damage response genes	tumor protein p53							95.0	85.0	88.0					17																	7578272		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578272G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.577C>T	17.37:g.7578272G>A	ENSP00000269305:p.His193Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193Y|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y	p.H193Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	709	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.577C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387715	0.61956	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96559	0.9414	10	0.87932	D	0	-29.0766	17.0767	0.86588	0.0:0.0:1.0:0.0	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193Y;ENSP00000352610:H193Y;ENSP00000269305:H193Y;ENSP00000398846:H193Y;ENSP00000391127:H193Y;ENSP00000391478:H193Y;ENSP00000425104:H61Y;ENSP00000423862:H100Y	ENSP00000269305:H193Y	H	-	1	0	TP53	7518997	1.000000	0.71417	0.971000	0.41717	0.032000	0.12392	9.813000	0.99286	2.702000	0.92279	0.655000	0.94253	CAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	30	0	0	0	0.074837	0	37	30				
SGCG	6445	broad.mit.edu	37	13	23869612	23869612	+	Silent	SNP	G	G	T	rs367595212		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr13:23869612G>T	ENST00000218867.3	+	6	688	c.564G>T	c.(562-564)ccG>ccT	p.P188P	SGCG_ENST00000545013.1_Silent_p.P188P|SGCG_ENST00000537476.1_Silent_p.P188P	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	188					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GAGCCGACCCGTTTCAAGACC	0.408																																						ENST00000218867.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(562-564)ccG>ccT		sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)							130.0	132.0	132.0					13																	23869612		2203	4300	6503	SO:0001819	synonymous_variant	6445				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr13:23869612G>T	U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.564G>T	13.37:g.23869612G>T			Somatic				SGCG_ENST00000545013.1_Silent_p.P188P|SGCG_ENST00000537476.1_Silent_p.P188P	p.P188P	NM_000231.2	NP_000222.1	WXS	Illumina GAIIx	Phase_I	Q13326	SGCG_HUMAN		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)	6	688	+		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)	188					Q32M32|Q5T9J6	Silent	SNP	ENST00000218867.3	37	c.564G>T	CCDS9299.1																																																																																				0.408	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231		83	183	1	0	9.10118e-52	0.139131	1.13765e-51	83	183				
GPR137	56834	broad.mit.edu	37	11	64056826	64056826	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr11:64056826C>T	ENST00000313074.3	+	7	1348	c.1243C>T	c.(1243-1245)Ccg>Tcg	p.P415S	GPR137_ENST00000438980.2_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000377702.4_3'UTR|KCNK4_ENST00000422670.2_5'Flank|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.P473S|KCNK4_ENST00000394525.2_5'Flank	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	415						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGAGCTTGTGCCGTCCCCCTA	0.647																																						ENST00000411458.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(1417-1419)Ccg>Tcg		G protein-coupled receptor 137							61.0	61.0	61.0					11																	64056826		2201	4297	6498	SO:0001583	missense	56834					integral to membrane		g.chr11:64056826C>T	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.1243C>T	11.37:g.64056826C>T	ENSP00000321698:p.Pro415Ser		Somatic				GPR137_ENST00000313074.3_Missense_Mutation_p.P415S|GPR137_ENST00000438980.2_3'UTR|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000539851.1_3'UTR	p.P473S	NM_001170726.1	NP_001164197.1	WXS	Illumina GAIIx	Phase_I	Q96N19	G137A_HUMAN			9	1445	+			415					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	c.1417C>T	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	C	9.310	1.055330	0.19907	.	.	ENSG00000173264	ENST00000411458;ENST00000313074	T;T	0.51574	0.7;0.85	5.27	3.38	0.38709	.	1.323320	0.05536	N	0.564845	T	0.30293	0.0760	N	0.08118	0	0.58432	D	0.999993	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.06991	-1.0796	10	0.49607	T	0.09	-0.0272	7.3883	0.26895	0.0:0.7394:0.1696:0.091	.	473;415	B4DTG7;Q96N19	.;G137A_HUMAN	S	473;415	ENSP00000411827:P473S;ENSP00000321698:P415S	ENSP00000321698:P415S	P	+	1	0	GPR137	63813402	0.698000	0.27777	0.584000	0.28653	0.551000	0.35334	1.531000	0.36018	0.718000	0.32166	0.561000	0.74099	CCG		0.647	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		4	148	0	0	0	0.150653	0	4	148				
UQCR10	29796	broad.mit.edu	37	22	30163417	30163417	+	Silent	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr22:30163417G>A	ENST00000330029.6	+	1	60	c.30G>A	c.(28-30)ttG>ttA	p.L10L	ZMAT5_ENST00000344318.3_5'Flank|ZMAT5_ENST00000397781.3_5'Flank|UQCR10_ENST00000401406.3_Silent_p.L10L	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	10					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						CTTCGAAATTGTACTCCCTGC	0.622																																						ENST00000330029.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						c.(28-30)ttG>ttA		ubiquinol-cytochrome c reductase, complex III subunit X							54.0	62.0	59.0					22																	30163417		2057	4195	6252	SO:0001819	synonymous_variant	29796				mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr22:30163417G>A	AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"""Mitochondrial respiratory chain complex / Complex III"""	30863	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa"", ""complex III subunit 9"""	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.30G>A	22.37:g.30163417G>A			Somatic				UQCR10_ENST00000401406.3_Silent_p.L10L	p.L10L	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	WXS	Illumina GAIIx	Phase_I	Q9UDW1	QCR9_HUMAN			1	60	+			10					B5MCM5|Q9T2V6	Silent	SNP	ENST00000330029.6	37	c.30G>A	CCDS46680.1																																																																																				0.622	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322081.1	NM_013387		25	47	0	0	0	0.108266	0	25	47				
RAB11FIP2	22841	broad.mit.edu	37	10	119798885	119798885	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr10:119798885C>G	ENST00000355624.3	-	3	1302	c.863G>C	c.(862-864)aGc>aCc	p.S288T	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.S288T|RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	288					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		ATCCACAATGCTGTCAGGTTG	0.368																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(862-864)aGc>aCc		RAB11 family interacting protein 2 (class I)							156.0	146.0	149.0					10																	119798885		2202	4299	6501	SO:0001583	missense	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119798885C>G	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.863G>C	10.37:g.119798885C>G	ENSP00000347839:p.Ser288Thr		Somatic				RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.S288T	p.S288T	NM_014904.2	NP_055719.1	WXS	Illumina GAIIx	Phase_I	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	3	1302	-		Colorectal(252;0.235)	288					A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	c.863G>C	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	C	5.059	0.196551	0.09599	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.64618	-0.09;-0.11	5.76	3.86	0.44501	.	0.495983	0.26026	N	0.026795	T	0.46541	0.1398	L	0.31294	0.92	0.28006	N	0.935093	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.25984	-1.0116	10	0.13853	T	0.58	-1.764	12.1501	0.54046	0.0:0.8949:0.0:0.1051	.	288;288	Q3I768;Q7L804	.;RFIP2_HUMAN	T	288	ENSP00000347839:S288T;ENSP00000358200:S288T	ENSP00000347839:S288T	S	-	2	0	RAB11FIP2	119788875	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.887000	0.28254	0.823000	0.34589	0.650000	0.86243	AGC		0.368	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		6	152	0	0	0	0.021553	0	6	152				
SARDH	1757	broad.mit.edu	37	9	136573487	136573487	+	Silent	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr9:136573487G>A	ENST00000371872.4	-	11	1649	c.1392C>T	c.(1390-1392)taC>taT	p.Y464Y	SARDH_ENST00000439388.1_Silent_p.Y464Y|SARDH_ENST00000422262.2_Silent_p.Y296Y	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	464					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AGTTCTTGGCGTAGGACTCAT	0.652																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1390-1392)taC>taT		sarcosine dehydrogenase							101.0	102.0	102.0					9																	136573487		2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136573487G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1392C>T	9.37:g.136573487G>A			Somatic				SARDH_ENST00000439388.1_Silent_p.Y464Y|SARDH_ENST00000422262.2_Silent_p.Y296Y	p.Y464Y	NM_007101.3	NP_009032.2	WXS	Illumina GAIIx	Phase_I	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	11	1649	-			464					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.1392C>T	CCDS6978.1																																																																																				0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			14	115	0	0	0	0.119110	0	14	115				
ZNF626	199777	broad.mit.edu	37	19	20807796	20807796	+	Missense_Mutation	SNP	C	C	T	rs201387631	byFrequency	TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr19:20807796C>T	ENST00000601440.1	-	4	1033	c.887G>A	c.(886-888)cGg>cAg	p.R296Q	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GGTTGAGGACCGGTTGAAGGC	0.388													N|||	2	0.000399361	0.0	0.0	5008	,	,		22011	0.0		0.001	False		,,,				2504	0.001					ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(886-888)cGg>cAg		zinc finger protein 626							81.0	89.0	86.0					19																	20807796		2189	4292	6481	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807796C>T	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.887G>A	19.37:g.20807796C>T	ENSP00000469958:p.Arg296Gln		Somatic				CTC-513N18.7_ENST00000595094.1_lincRNA	p.R296Q	NM_001076675.2	NP_001070143.1	WXS	Illumina GAIIx	Phase_I	Q68DY1	ZN626_HUMAN			4	1033	-			296					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.887G>A	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.021	-1.422862	0.01126	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.865	-0.414	0.12359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14787	0.0357	N	0.17564	0.495	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.32107	-0.9919	8	0.02654	T	1	.	3.3511	0.07153	0.0:0.3739:0.0:0.6261	.	296	Q68DY1	ZN626_HUMAN	Q	296;220;296	.	ENSP00000445201:R296Q	R	-	2	0	ZNF626	20599636	0.000000	0.05858	0.043000	0.18650	0.043000	0.13939	-4.983000	0.00163	0.277000	0.22141	0.282000	0.19409	CGG		0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		5	281	0	0	0	0.021553	0	5	281				
HENMT1	113802	broad.mit.edu	37	1	109191481	109191481	+	Silent	SNP	G	G	T	rs140991391		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr1:109191481G>T	ENST00000370032.5	-	8	1309	c.889C>A	c.(889-891)Cgg>Agg	p.R297R	HENMT1_ENST00000370031.1_Silent_p.R328R|HENMT1_ENST00000493676.1_5'Flank|HENMT1_ENST00000402983.1_Silent_p.R297R	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	297					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						TTATCACCCCGTTCCCCAGCC	0.507																																						ENST00000370032.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						c.(889-891)Cgg>Agg		HEN1 methyltransferase homolog 1 (Arabidopsis)							93.0	84.0	87.0					1																	109191481		2203	4300	6503	SO:0001819	synonymous_variant	113802				gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	g.chr1:109191481G>T		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"""HEN1 methyltransferase homolog (Arabidopsis)"""	612178	"""chromosome 1 open reading frame 59"""	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.889C>A	1.37:g.109191481G>T			Somatic				HENMT1_ENST00000402983.1_Silent_p.R297R|HENMT1_ENST00000370031.1_Silent_p.R328R	p.R297R	NM_144584.2	NP_653185.2	WXS	Illumina GAIIx	Phase_I	Q5T8I9	HENMT_HUMAN			8	1309	-			297					A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Silent	SNP	ENST00000370032.5	37	c.889C>A	CCDS787.1																																																																																				0.507	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		3	91	1	0	0.000602214	0.014758	0.000669127	3	91				
PPFIBP1	8496	broad.mit.edu	37	12	27787945	27787945	+	Missense_Mutation	SNP	G	G	T	rs148953958		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr12:27787945G>T	ENST00000318304.8	+	4	450	c.167G>T	c.(166-168)cGt>cTt	p.R56L	PPFIBP1_ENST00000535047.1_Missense_Mutation_p.R56L|PPFIBP1_ENST00000545334.1_Missense_Mutation_p.R56L|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.R56L|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.R56L|PPFIBP1_ENST00000537927.1_Intron	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	56					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAAGACCTGCGTGGATTGTTA	0.458																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(166-168)cGt>cTt		PTPRF interacting protein, binding protein 1 (liprin beta 1)							107.0	109.0	109.0					12																	27787945		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27787945G>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.167G>T	12.37:g.27787945G>T	ENSP00000314724:p.Arg56Leu		Somatic				PPFIBP1_ENST00000542629.1_Missense_Mutation_p.R56L|PPFIBP1_ENST00000545334.1_Missense_Mutation_p.R56L|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.R56L|PPFIBP1_ENST00000535047.1_Missense_Mutation_p.R56L|PPFIBP1_ENST00000537927.1_Intron	p.R56L	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	WXS	Illumina GAIIx	Phase_I	Q86W92	LIPB1_HUMAN			4	450	+	Lung SC(9;0.0873)		56					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.167G>T	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970280	0.92855	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000545334;ENST00000318304;ENST00000535047;ENST00000542629;ENST00000228425;ENST00000535575;ENST00000542187	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	4.53	4.53	0.55603	.	0.000000	0.32671	U	0.005784	T	0.38427	0.1040	M	0.74258	2.255	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.995;0.999	D;D;D;P;D	0.91635	0.999;0.993;0.999;0.878;0.971	T	0.18085	-1.0348	10	0.46703	T	0.11	-10.5402	17.1107	0.86674	0.0:0.0:1.0:0.0	.	56;56;56;56;56	Q86W92;Q86W92-2;Q86W92-4;Q86W92-5;F5H0E0	LIPB1_HUMAN;.;.;.;.	L	56;56;56;56;56;56;56;56;69	ENSP00000445822:R56L;ENSP00000314724:R56L;ENSP00000444046:R56L;ENSP00000443442:R56L;ENSP00000228425:R56L	ENSP00000228425:R56L	R	+	2	0	PPFIBP1	27679212	1.000000	0.71417	0.951000	0.38953	0.984000	0.73092	9.555000	0.98123	2.349000	0.79799	0.306000	0.20318	CGT		0.458	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		12	222	1	0	0.0809354	0.080935	0.0837262	12	222				
LCP1	3936	broad.mit.edu	37	13	46730641	46730641	+	Silent	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr13:46730641C>T	ENST00000398576.2	-	8	811	c.423G>A	c.(421-423)cgG>cgA	p.R141R	LCP1_ENST00000323076.2_Silent_p.R141R|LCP1_ENST00000460190.1_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	141	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.R141R(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGATGACATGCCGACAATCAG	0.383			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		1	Substitution - coding silent(1)	p.R141R(1)	kidney(1)	breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(421-423)cgG>cgA		lymphocyte cytosolic protein 1 (L-plastin)							251.0	241.0	244.0					13																	46730641		2203	4300	6503	SO:0001819	synonymous_variant	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46730641C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.423G>A	13.37:g.46730641C>T			Somatic				LCP1_ENST00000323076.2_Silent_p.R141R	p.R141R			WXS	Illumina GAIIx	Phase_I	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	8	811	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	141			Actin-binding 1.|CH 1.		B2R613|B4DUA0|Q5TBN4	Silent	SNP	ENST00000398576.2	37	c.423G>A	CCDS9403.1																																																																																				0.383	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		5	386	0	0	0	0.014758	0	5	386				
CHD7	55636	broad.mit.edu	37	8	61767019	61767019	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr8:61767019C>A	ENST00000423902.2	+	32	7352	c.6873C>A	c.(6871-6873)gaC>gaA	p.D2291E	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2291					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.D2291D(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACATGGAGGACGGAGATCCTT	0.458																																						ENST00000423902.2																			1	Substitution - coding silent(1)	p.D2291D(1)	large_intestine(1)	NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(6871-6873)gaC>gaA		chromodomain helicase DNA binding protein 7							201.0	181.0	187.0					8																	61767019		1882	4114	5996	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61767019C>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6873C>A	8.37:g.61767019C>A	ENSP00000392028:p.Asp2291Glu		Somatic				CHD7_ENST00000524602.1_Intron	p.D2291E	NM_017780.3	NP_060250.2	WXS	Illumina GAIIx	Phase_I	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		32	7352	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2291					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.6873C>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	c	15.25	2.777540	0.49786	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.81499	-1.5	5.79	-6.41	0.01938	.	0.000000	0.85682	D	0.000000	T	0.78780	0.4337	L	0.59436	1.845	0.35115	D	0.766538	D	0.67145	0.996	P	0.50934	0.654	T	0.82341	-0.0505	10	0.49607	T	0.09	-21.8732	16.1478	0.81583	0.0:0.4749:0.0:0.5251	.	2291	Q9P2D1	CHD7_HUMAN	E	2291	ENSP00000392028:D2291E	ENSP00000307304:D2291E	D	+	3	2	CHD7	61929573	0.084000	0.21492	0.417000	0.26559	0.542000	0.35054	-0.422000	0.07043	-1.226000	0.02574	-1.594000	0.00841	GAC		0.458	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		7	197	1	0	8.12818e-05	0.029380	9.56257e-05	7	197				
ANXA10	11199	broad.mit.edu	37	4	169108555	169108555	+	Silent	SNP	C	C	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr4:169108555C>A	ENST00000359299.3	+	12	1131	c.945C>A	c.(943-945)gcC>gcA	p.A315A		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	315						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CACTGCTTGCCATCTGTGCTG	0.338																																						ENST00000359299.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16						c.(943-945)gcC>gcA		annexin A10							107.0	101.0	103.0					4																	169108555		2203	4300	6503	SO:0001819	synonymous_variant	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169108555C>A	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.945C>A	4.37:g.169108555C>A			Somatic					p.A315A	NM_007193.4	NP_009124.2	WXS	Illumina GAIIx	Phase_I	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	12	1131	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	315					Q96IQ5|Q9UJV4	Silent	SNP	ENST00000359299.3	37	c.945C>A	CCDS34096.1																																																																																				0.338	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		38	128	1	0	6.68952e-21	0.131918	8.19125e-21	38	128				
MUC4	4585	broad.mit.edu	37	3	195507717	195507717	+	Silent	SNP	G	G	T	rs376353447		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr3:195507717G>T	ENST00000463781.3	-	2	11193	c.10734C>A	c.(10732-10734)tcC>tcA	p.S3578S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S3578S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S3578S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCTGTGGATACTGAGG	0.587																																						ENST00000463781.3																			1	Substitution - coding silent(1)	p.S3578S(1)	kidney(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(10732-10734)tcC>tcA		mucin 4, cell surface associated							8.0	8.0	8.0					3																	195507717		621	1507	2128	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195507717G>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10734C>A	3.37:g.195507717G>T			Somatic				MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S3578S|MUC4_ENST00000346145.4_Intron	p.S3578S	NM_018406.6	NP_060876.5	WXS	Illumina GAIIx	Phase_I	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	11193	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	376					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.10734C>A	CCDS54700.1																																																																																				0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	3	1	0	0.004672	0.115264	0.00500571	3	3				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			96610							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			8	75	0	0	0	0.058154	0	8	75				
ITGAM	3684	broad.mit.edu	37	16	31308843	31308843	+	Silent	SNP	C	C	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr16:31308843C>A	ENST00000287497.8	+	13	1440	c.1365C>A	c.(1363-1365)gcC>gcA	p.A455A	ITGAM_ENST00000544665.3_Silent_p.A455A			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	455					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGATCGGCGCCTACTTCGGGG	0.587																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1363-1365)gcC>gcA		integrin, alpha M (complement component 3 receptor 3 subunit)							119.0	130.0	127.0					16																	31308843		2190	4293	6483	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31308843C>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1365C>A	16.37:g.31308843C>A			Somatic				ITGAM_ENST00000287497.8_Silent_p.A455A	p.A455A	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	WXS	Illumina GAIIx	Phase_I	P11215	ITAM_HUMAN			13	1436	+			455					Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.1365C>A	CCDS45470.1																																																																																				0.587	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		10	337	1	0	0.00010058	0.093190	0.000116054	10	337				
PKN3	29941	broad.mit.edu	37	9	131481983	131481983	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr9:131481983G>A	ENST00000291906.4	+	19	2537	c.2144G>A	c.(2143-2145)cGg>cAg	p.R715Q	PKN3_ENST00000485301.1_3'UTR|ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	715	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TTCGGGGACCGGACTAGCACC	0.592																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(2143-2145)cGg>cAg		protein kinase N3							195.0	197.0	197.0					9																	131481983		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131481983G>A	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2144G>A	9.37:g.131481983G>A	ENSP00000291906:p.Arg715Gln		Somatic				PKN3_ENST00000485301.1_3'UTR	p.R715Q	NM_013355.3	NP_037487.2	WXS	Illumina GAIIx	Phase_I	Q6P5Z2	PKN3_HUMAN			19	2537	+			715			Protein kinase.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.2144G>A	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	G	35	5.573722	0.96553	.	.	ENSG00000160447	ENST00000291906	T	0.65549	-0.16	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.74898	0.3777	L	0.50847	1.595	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.75803	-0.3189	9	0.59425	D	0.04	.	16.8453	0.85979	0.0:0.0:1.0:0.0	.	715	Q6P5Z2	PKN3_HUMAN	Q	715	ENSP00000291906:R715Q	ENSP00000291906:R715Q	R	+	2	0	PKN3	130521804	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.662000	0.83803	2.588000	0.87417	0.563000	0.77884	CGG		0.592	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		15	434	0	0	0	0.132662	0	15	434				
RYR1	6261	broad.mit.edu	37	19	39019676	39019676	+	Missense_Mutation	SNP	G	G	A	rs193922838		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr19:39019676G>A	ENST00000359596.3	+	76	11120	c.11120G>A	c.(11119-11121)cGc>cAc	p.R3707H	RYR1_ENST00000360985.3_Missense_Mutation_p.R3707H|AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000355481.4_Missense_Mutation_p.R3702H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3707					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R3707L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CACTTCAGCCGCACTGCCCTG	0.637																																						ENST00000355481.4																			1	Substitution - Missense(1)	p.R3707L(1)	lung(1)	NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	GRCh37	CM064216	RYR1	M		c.(11104-11106)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						76.0	63.0	68.0					19																	39019676		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39019676G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11120G>A	19.37:g.39019676G>A	ENSP00000352608:p.Arg3707His		Somatic				RYR1_ENST00000359596.3_Missense_Mutation_p.R3707H|RYR1_ENST00000360985.3_Missense_Mutation_p.R3707H	p.R3702H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		75	11236	+	all_cancers(60;7.91e-06)		3707					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.11105G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	14.58	2.576582	0.45902	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97352	-4.34;-4.35;-4.34	5.33	5.33	0.75918	.	0.000000	0.64402	U	0.000005	D	0.95784	0.8628	L	0.60455	1.87	0.43029	D	0.994597	B;B;B	0.22080	0.064;0.064;0.038	B;B;B	0.19148	0.024;0.005;0.002	D	0.93806	0.7105	10	0.66056	D	0.02	.	17.7982	0.88579	0.0:0.0:1.0:0.0	.	3707;3702;3707	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	H	3707;3702;3707;627	ENSP00000352608:R3707H;ENSP00000347667:R3702H;ENSP00000354254:R3707H	ENSP00000347667:R3702H	R	+	2	0	RYR1	43711516	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.358000	0.79466	2.503000	0.84419	0.651000	0.88453	CGC		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			3	51	0	0	0	0.115264	0	3	51				
NEK5	341676	broad.mit.edu	37	13	52676276	52676276	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr13:52676276C>G	ENST00000355568.4	-	10	901	c.762G>C	c.(760-762)ttG>ttC	p.L254F		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AGGGCCTTTTCAAAATGGAAT	0.423																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(760-762)ttG>ttC		NIMA-related kinase 5							123.0	137.0	132.0					13																	52676276		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52676276C>G	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.762G>C	13.37:g.52676276C>G	ENSP00000347767:p.Leu254Phe		Somatic					p.L254F	NM_199289.1	NP_954983.1	WXS	Illumina GAIIx	Phase_I	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	10	901	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	254			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.762G>C	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157716	0.38119	.	.	ENSG00000197168	ENST00000355568	T	0.34275	1.37	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000049	T	0.60287	0.2257	M	0.85373	2.75	0.39071	D	0.960726	D	0.89917	1.0	D	0.97110	1.0	T	0.66492	-0.5910	10	0.56958	D	0.05	.	7.8634	0.29522	0.0:0.8128:0.0:0.1872	.	254	Q6P3R8	NEK5_HUMAN	F	254	ENSP00000347767:L254F	ENSP00000347767:L254F	L	-	3	2	NEK5	51574277	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	0.996000	0.29719	2.838000	0.97847	0.563000	0.77884	TTG		0.423	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		10	314	0	0	0	0.058154	0	10	314				
SMC3	9126	broad.mit.edu	37	10	112358023	112358023	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr10:112358023A>C	ENST00000361804.4	+	20	2369	c.2243A>C	c.(2242-2244)cAg>cCg	p.Q748P		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	748					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGAGGCAGCAGTCAGAGAAA	0.333																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2242-2244)cAg>cCg		structural maintenance of chromosomes 3							137.0	148.0	144.0					10																	112358023		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112358023A>C	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2243A>C	10.37:g.112358023A>C	ENSP00000354720:p.Gln748Pro		Somatic					p.Q748P	NM_005445.3	NP_005436.1	WXS	Illumina GAIIx	Phase_I	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	20	2369	+		Breast(234;0.0848)|Lung NSC(174;0.238)	748					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.2243A>C	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723654	0.68959	.	.	ENSG00000108055	ENST00000361804	T	0.77620	-1.11	5.55	5.55	0.83447	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.72622	0.3483	L	0.36672	1.1	0.80722	D	1	P	0.36162	0.54	B	0.39904	0.313	T	0.71397	-0.4605	10	0.33141	T	0.24	.	15.9906	0.80202	1.0:0.0:0.0:0.0	.	748	Q9UQE7	SMC3_HUMAN	P	748	ENSP00000354720:Q748P	ENSP00000354720:Q748P	Q	+	2	0	SMC3	112348013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.839000	0.92120	2.238000	0.73509	0.477000	0.44152	CAG		0.333	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		99	108	0	0	0	0.139131	0	99	108				
TECPR1	25851	broad.mit.edu	37	7	97873932	97873932	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr7:97873932C>T	ENST00000447648.2	-	5	781	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	TECPR1_ENST00000542604.1_Missense_Mutation_p.R82Q|TECPR1_ENST00000379795.3_Missense_Mutation_p.R161Q			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	161					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GATCCACTTCCGGCGCCGCAC	0.577																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(481-483)cGg>cAg		tectonin beta-propeller repeat containing 1							82.0	87.0	85.0					7																	97873932		1956	4125	6081	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97873932C>T		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.482G>A	7.37:g.97873932C>T	ENSP00000404923:p.Arg161Gln		Somatic				TECPR1_ENST00000542604.1_Missense_Mutation_p.R82Q|TECPR1_ENST00000379795.3_Missense_Mutation_p.R161Q	p.R161Q			WXS	Illumina GAIIx	Phase_I	Q7Z6L1	TCPR1_HUMAN			5	781	-			161					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.482G>A	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692390	0.68271	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	D;D;T	0.98633	-5.04;-5.04;0.07	5.2	4.31	0.51392	Ferlin/Peroxisome membrane (1);	0.051075	0.85682	D	0.000000	D	0.99275	0.9747	H	0.94771	3.58	0.43947	D	0.996611	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.966	D	0.98997	1.0810	10	0.87932	D	0	-40.8508	12.5564	0.56257	0.0:0.919:0.0:0.081	.	82;161	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	Q	161;161;82	ENSP00000404923:R161Q;ENSP00000369121:R161Q;ENSP00000441121:R82Q	ENSP00000369121:R161Q	R	-	2	0	TECPR1	97711868	1.000000	0.71417	0.486000	0.27416	0.202000	0.24057	6.073000	0.71245	1.186000	0.42985	0.555000	0.69702	CGG		0.577	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		4	93	0	0	0	0.150653	0	4	93				
TTLL1	25809	broad.mit.edu	37	22	43459908	43459908	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr22:43459908G>A	ENST00000266254.7	-	7	898	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	TTLL1_ENST00000331018.7_Missense_Mutation_p.R220W	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	220	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GTGCAGAACCGGCAAAACCCA	0.463																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(658-660)Cgg>Tgg		tubulin tyrosine ligase-like family, member 1							197.0	184.0	188.0					22																	43459908		2203	4300	6503	SO:0001583	missense	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43459908G>A	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.658C>T	22.37:g.43459908G>A	ENSP00000266254:p.Arg220Trp		Somatic				TTLL1_ENST00000266254.7_Missense_Mutation_p.R220W	p.R220W			WXS	Illumina GAIIx	Phase_I	O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	7	898	-		Ovarian(80;0.0694)	220			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	c.658C>T	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279331	0.80692	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.17854	2.25;2.25	5.98	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.62841	0.2461	H	0.99770	4.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80011	-0.1561	10	0.72032	D	0.01	.	13.6211	0.62138	0.0715:0.0:0.9285:0.0	.	220;220	O95922-4;O95922	.;TTLL1_HUMAN	W	220	ENSP00000333734:R220W;ENSP00000266254:R220W	ENSP00000266254:R220W	R	-	1	2	TTLL1	41789852	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	3.421000	0.52742	1.535000	0.49220	0.591000	0.81541	CGG		0.463	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		4	223	0	0	0	0.150653	0	4	223				
SLC16A13	201232	broad.mit.edu	37	17	6941493	6941493	+	Silent	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr17:6941493C>T	ENST00000308027.6	+	3	674	c.366C>T	c.(364-366)ttC>ttT	p.F122F		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	122						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CTTTGACCTTCGCTCCGACCC	0.587																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(364-366)ttC>ttT		solute carrier family 16, member 13							84.0	81.0	82.0					17																	6941493		2203	4300	6503	SO:0001819	synonymous_variant	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941493C>T	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.366C>T	17.37:g.6941493C>T			Somatic					p.F122F	NM_201566.2	NP_963860.1	WXS	Illumina GAIIx	Phase_I	Q7RTY0	MOT13_HUMAN			3	674	+			122					A3KMG3|A5PKU5|Q2VP92	Silent	SNP	ENST00000308027.6	37	c.366C>T	CCDS11085.1																																																																																				0.587	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			48	41	0	0	0	0.139131	0	48	41				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			96610							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			8	75	0	0	0	0.058154	0	8	75				
ZNF516	9658	broad.mit.edu	37	18	74154244	74154244	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr18:74154244G>T	ENST00000443185.2	-	3	1084	c.767C>A	c.(766-768)gCc>gAc	p.A256D	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A256D(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTGGCTGAAGGCCTGGCCACA	0.687																																						ENST00000443185.2																			2	Substitution - Missense(2)	p.A256D(2)	kidney(2)	central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(766-768)gCc>gAc		zinc finger protein 516							17.0	20.0	19.0					18																	74154244		2007	4189	6196	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154244G>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.767C>A	18.37:g.74154244G>T	ENSP00000394757:p.Ala256Asp		Somatic				ZNF516_ENST00000524431.2_5'UTR	p.A256D	NM_014643.3	NP_055458.1	WXS	Illumina GAIIx	Phase_I	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	1084	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	256						Missense_Mutation	SNP	ENST00000443185.2	37	c.767C>A		.	.	.	.	.	.	.	.	.	.	G	18.16	3.562224	0.65538	.	.	ENSG00000101493	ENST00000443185	T	0.52295	0.67	4.52	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.074994	0.53938	D	0.000047	T	0.65637	0.2710	.	.	.	0.37315	D	0.909299	D	0.76494	0.999	D	0.73708	0.981	T	0.72924	-0.4144	9	0.87932	D	0	-8.9982	11.3066	0.49338	0.084:0.0:0.916:0.0	.	256	Q92618	ZN516_HUMAN	D	256	ENSP00000394757:A256D	ENSP00000394757:A256D	A	-	2	0	ZNF516	72283232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.515000	0.67049	2.508000	0.84585	0.650000	0.86243	GCC		0.687	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		4	44	1	0	0.00024832	0.150653	0.000281117	4	44				
ACTR8	93973	broad.mit.edu	37	3	53911743	53911743	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr3:53911743A>C	ENST00000335754.3	-	4	541	c.441T>G	c.(439-441)atT>atG	p.I147M	ACTR8_ENST00000231909.7_5'Flank|ACTR8_ENST00000482349.1_Missense_Mutation_p.I36M	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	147					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AGTGATCTAAAATTGCAGGTC	0.393																																						ENST00000335754.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.(439-441)atT>atG		ARP8 actin-related protein 8 homolog (yeast)							98.0	93.0	95.0					3																	53911743		2203	4300	6503	SO:0001583	missense	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53911743A>C		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.441T>G	3.37:g.53911743A>C	ENSP00000336842:p.Ile147Met		Somatic				ACTR8_ENST00000482349.1_Missense_Mutation_p.I36M	p.I147M	NM_022899.4	NP_075050.3	WXS	Illumina GAIIx	Phase_I	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	4	541	-			147					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.441T>G	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.591266	0.46214	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000498740	D;T	0.97041	-4.22;0.84	5.79	4.56	0.56223	.	0.050564	0.85682	D	0.000000	D	0.93167	0.7824	N	0.25485	0.75	0.80722	D	1	B	0.32365	0.367	B	0.33960	0.173	D	0.90381	0.4388	10	0.46703	T	0.11	-26.5862	10.1921	0.43032	0.8204:0.0:0.0:0.1796	.	147	Q9H981	ARP8_HUMAN	M	147;36;36	ENSP00000336842:I147M;ENSP00000419429:I36M	ENSP00000336842:I147M	I	-	3	3	ACTR8	53886783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.500000	0.35682	0.886000	0.36113	0.528000	0.53228	ATT		0.393	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		72	123	0	0	0	0.139131	0	72	123				
PKHD1	5314	broad.mit.edu	37	6	51929825	51929825	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr6:51929825C>T	ENST00000371117.3	-	13	1179	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	PKHD1_ENST00000340994.4_Missense_Mutation_p.V302M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	302	IPT/TIG 3.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGGAGACACGTGTCTAATA	0.443																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(904-906)Gtg>Atg		polycystic kidney and hepatic disease 1 (autosomal recessive)							92.0	86.0	88.0					6																	51929825		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51929825C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.904G>A	6.37:g.51929825C>T	ENSP00000360158:p.Val302Met		Somatic				PKHD1_ENST00000340994.4_Missense_Mutation_p.V302M	p.V302M	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			13	1179	-	Lung NSC(77;0.0605)		302			IPT/TIG 3.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.904G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462041	0.26248	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79141	-1.24;-1.24	5.77	2.97	0.34412	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.303071	0.27052	N	0.021170	T	0.54240	0.1846	L	0.42529	1.33	0.25626	N	0.986357	P;D	0.54047	0.955;0.964	B;B	0.42593	0.272;0.392	T	0.49890	-0.8891	10	0.59425	D	0.04	.	8.7948	0.34872	0.1249:0.739:0.0:0.1361	.	302;302	P08F94-2;P08F94	.;PKHD1_HUMAN	M	302	ENSP00000360158:V302M;ENSP00000341097:V302M	ENSP00000341097:V302M	V	-	1	0	PKHD1	52037784	0.191000	0.23288	0.762000	0.31397	0.207000	0.24258	0.517000	0.22832	0.886000	0.36113	-0.181000	0.13052	GTG		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		38	48	0	0	0	0.086207	0	38	48				
VCAN	1462	broad.mit.edu	37	5	82834109	82834109	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr5:82834109A>G	ENST00000265077.3	+	8	5852	c.5287A>G	c.(5287-5289)Aca>Gca	p.T1763A	VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.T776A|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1763	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.T1763A(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAATGTAGCTACATCTAGTGA	0.383																																						ENST00000265077.3																			1	Substitution - Missense(1)	p.T1763A(1)	large_intestine(1)	NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(5287-5289)Aca>Gca		versican							73.0	76.0	75.0					5																	82834109		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82834109A>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5287A>G	5.37:g.82834109A>G	ENSP00000265077:p.Thr1763Ala		Somatic				VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.T776A|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA	p.T1763A	NM_004385.4	NP_004376.2	WXS	Illumina GAIIx	Phase_I	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	5852	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1763			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.5287A>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	7.828	0.719194	0.15372	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.86097	-2.06;-2.07;3.07	5.82	-2.77	0.05877	.	1.126930	0.06497	N	0.735587	T	0.67449	0.2894	N	0.17474	0.49	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.56251	-0.8010	10	0.02654	T	1	.	6.9381	0.24478	0.4746:0.3298:0.1956:0.0	.	776;1763	P13611-2;P13611	.;CSPG2_HUMAN	A	1763;776;776	ENSP00000265077:T1763A;ENSP00000340062:T776A;ENSP00000426251:T776A	ENSP00000265077:T1763A	T	+	1	0	VCAN	82869865	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.332000	0.07904	-1.162000	0.02797	-1.139000	0.01908	ACA		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		3	257	0	0	0	0.115264	0	3	257				
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	C	G	rs564183572		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr10:81443821C>G	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GCAGCACCATCGCCTCAGACC	0.612																																						ENST00000600376.1																			0																																																			101060691							g.chr10:81443821C>G																													10.37:g.81443821C>G			Somatic				RP11-119F19.2_ENST00000596088.1_RNA				WXS	Illumina GAIIx	Phase_I					0	54	-									RNA	SNP	ENST00000600376.1	37																																																																																						0.612	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			3	39	0	0	0	0.014758	0	3	39				
ANK1	286	broad.mit.edu	37	8	41529890	41529890	+	Missense_Mutation	SNP	G	G	A	rs567116417		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr8:41529890G>A	ENST00000347528.4	-	38	5161	c.5078C>T	c.(5077-5079)aCg>aTg	p.T1693M	ANK1_ENST00000396942.1_Missense_Mutation_p.T1693M|ANK1_ENST00000379758.2_Missense_Mutation_p.T1693M|ANK1_ENST00000396945.1_Missense_Mutation_p.T1693M|ANK1_ENST00000265709.8_Missense_Mutation_p.T1734M|ANK1_ENST00000352337.4_Missense_Mutation_p.T1693M|ANK1_ENST00000289734.7_Missense_Mutation_p.T1693M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1693	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTCCTCTCCGTCACCTGACT	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17993	0.0		0.0	False		,,,				2504	0.0					ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5077-5079)aCg>aTg		ankyrin 1, erythrocytic							100.0	93.0	95.0					8																	41529890		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41529890G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5078C>T	8.37:g.41529890G>A	ENSP00000339620:p.Thr1693Met		Somatic				ANK1_ENST00000289734.7_Missense_Mutation_p.T1693M|ANK1_ENST00000352337.4_Missense_Mutation_p.T1693M|ANK1_ENST00000347528.4_Missense_Mutation_p.T1693M|ANK1_ENST00000265709.8_Missense_Mutation_p.T1734M|ANK1_ENST00000379758.2_Missense_Mutation_p.T1693M|ANK1_ENST00000396945.1_Missense_Mutation_p.T1693M	p.T1693M			WXS	Illumina GAIIx	Phase_I	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	5161	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1693			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5078C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	8.831	0.939844	0.18281	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.64618	-0.1;-0.11;-0.08;-0.05;-0.08;-0.07;-0.1	5.18	-0.0637	0.13775	.	0.685781	0.14331	N	0.326361	T	0.41026	0.1141	N	0.22421	0.69	0.18873	N	0.999987	B;B;B;B;B;B	0.13594	0.008;0.003;0.001;0.001;0.002;0.002	B;B;B;B;B;B	0.12837	0.008;0.001;0.001;0.001;0.002;0.001	T	0.20174	-1.0283	10	0.42905	T	0.14	.	4.3601	0.11197	0.5104:0.0:0.3438:0.1458	.	1734;1531;1693;1693;1693;847	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	M	1693;1693;1693;1693;1693;1693;1734	ENSP00000339620:T1693M;ENSP00000289734:T1693M;ENSP00000369082:T1693M;ENSP00000380149:T1693M;ENSP00000380147:T1693M;ENSP00000309131:T1693M;ENSP00000265709:T1734M	ENSP00000265709:T1734M	T	-	2	0	ANK1	41649047	0.258000	0.24033	0.990000	0.47175	0.839000	0.47603	1.222000	0.32515	-0.143000	0.11334	0.545000	0.68477	ACG		0.557	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		12	157	0	0	0	0.105934	0	12	157				
MTHFSD	64779	broad.mit.edu	37	16	86582080	86582080	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr16:86582080G>A	ENST00000360900.6	-	4	366	c.341C>T	c.(340-342)gCc>gTc	p.A114V	MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000381214.5_Missense_Mutation_p.A114V|MTHFSD_ENST00000322911.6_Missense_Mutation_p.A113V|MTHFSD_ENST00000543303.2_Missense_Mutation_p.A113V	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	114							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CTGAGAGGTGGCACATTTTCT	0.453																																						ENST00000322911.6																			0				endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(337-339)gCc>gTc		methenyltetrahydrofolate synthetase domain containing							143.0	137.0	139.0					16																	86582080		1906	4107	6013	SO:0001583	missense	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86582080G>A	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.341C>T	16.37:g.86582080G>A	ENSP00000354152:p.Ala114Val		Somatic				MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000381214.5_Missense_Mutation_p.A114V|MTHFSD_ENST00000360900.6_Missense_Mutation_p.A114V|MTHFSD_ENST00000543303.2_Missense_Mutation_p.A113V|MTHFSD_ENST00000546093.1_5'UTR	p.A113V	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	WXS	Illumina GAIIx	Phase_I	Q2M296	MTHSD_HUMAN			4	388	-			114					A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	c.338C>T	CCDS54047.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942894	0.92526	.	.	ENSG00000103248	ENST00000543303;ENST00000381214;ENST00000360900;ENST00000322911	T;T;T	0.44482	0.92;0.92;0.92	4.98	4.98	0.66077	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.107337	0.64402	D	0.000004	T	0.59824	0.2222	L	0.58583	1.82	0.43959	D	0.996634	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.74023	0.982;0.982;0.982;0.969	T	0.59215	-0.7496	10	0.44086	T	0.13	-6.6	15.4266	0.75055	0.0:0.0:1.0:0.0	.	114;113;114;113	E9PAM1;B7ZLC0;Q2M296;Q2M296-2	.;.;MTHSD_HUMAN;.	V	112;114;114;113	ENSP00000370612:A114V;ENSP00000354152:A114V;ENSP00000326777:A113V	ENSP00000326777:A113V	A	-	2	0	MTHFSD	85139581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.667000	0.91153	2.323000	0.78572	0.655000	0.94253	GCC		0.453	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		5	291	0	0	0	0.021553	0	5	291				
KLK4	9622	broad.mit.edu	37	19	51412533	51412533	+	Silent	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr19:51412533G>A	ENST00000324041.1	-	2	198	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_Silent_p.L18L	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	67	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCGGCTGACAGCACCCACTGC	0.647																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.(199-201)Ctg>Ttg		kallikrein-related peptidase 4							102.0	112.0	109.0					19																	51412533		2203	4300	6503	SO:0001819	synonymous_variant	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51412533G>A	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.199C>T	19.37:g.51412533G>A			Somatic				KLK4_ENST00000431178.2_Silent_p.L18L	p.L67L	NM_004917.3	NP_004908.3	WXS	Illumina GAIIx	Phase_I	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	2	198	-		all_neural(266;0.026)	67			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Silent	SNP	ENST00000324041.1	37	c.199C>T	CCDS12809.1																																																																																				0.647	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		4	274	0	0	0	0.150653	0	4	274				
HEATR2	54919	broad.mit.edu	37	7	796571	796571	+	Silent	SNP	G	G	T	rs202182894	byFrequency	TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr7:796571G>T	ENST00000297440.6	+	6	1430	c.1410G>T	c.(1408-1410)ccG>ccT	p.P470P	HEATR2_ENST00000313147.5_Silent_p.P470P	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	470						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CCCTCCAGCCGCACCTGGCAG	0.637																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1408-1410)ccG>ccT		HEAT repeat containing 2							32.0	37.0	35.0					7																	796571		2203	4300	6503	SO:0001819	synonymous_variant	54919						protein binding	g.chr7:796571G>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1410G>T	7.37:g.796571G>T			Somatic				HEATR2_ENST00000313147.5_Silent_p.P470P	p.P470P	NM_017802.3	NP_060272.3	WXS	Illumina GAIIx	Phase_I	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	6	1430	+		Ovarian(82;0.0112)	470					Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	37	c.1410G>T	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	G	0.118	-1.128735	0.01756	.	.	ENSG00000164818	ENST00000440747	.	.	.	5.49	-11.0	0.00169	.	.	.	.	.	T	0.31670	0.0804	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47586	-0.9106	4	.	.	.	-41.2365	1.2074	0.01897	0.2405:0.3282:0.192:0.2393	.	.	.	.	S	272	.	.	A	+	1	0	HEATR2	763097	0.000000	0.05858	0.013000	0.15412	0.029000	0.11900	-2.464000	0.00996	-3.714000	0.00117	-3.080000	0.00066	GCA		0.637	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		4	33	1	0	0.00116845	0.021553	0.00127467	4	33				
OPA1	4976	broad.mit.edu	37	3	193384116	193384116	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr3:193384116G>A	ENST00000392438.3	+	26	2879	c.2645G>A	c.(2644-2646)cGt>cAt	p.R882H	OPA1_ENST00000361150.2_Missense_Mutation_p.R883H|OPA1_ENST00000361908.3_Missense_Mutation_p.R919H|OPA1_ENST00000361828.2_Missense_Mutation_p.R900H|OPA1_ENST00000361510.2_Missense_Mutation_p.R937H|OPA1_ENST00000361715.2_Missense_Mutation_p.R901H	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	882			R -> L (in OPA1). {ECO:0000269|PubMed:19319978}.		apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TTGTTTTGGCGTATACAGCGC	0.358																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2809-2811)cGt>cAt		optic atrophy 1 (autosomal dominant)							152.0	136.0	141.0					3																	193384116		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193384116G>A	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2645G>A	3.37:g.193384116G>A	ENSP00000376233:p.Arg882His		Somatic				OPA1_ENST00000361715.2_Missense_Mutation_p.R901H|OPA1_ENST00000361908.3_Missense_Mutation_p.R919H|OPA1_ENST00000361828.2_Missense_Mutation_p.R900H|OPA1_ENST00000392438.3_Missense_Mutation_p.R882H|OPA1_ENST00000361150.2_Missense_Mutation_p.R883H	p.R937H	NM_130837.2	NP_570850.2	WXS	Illumina GAIIx	Phase_I	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	28	3044	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		882					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.2810G>A	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	35	5.510650	0.96386	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000445863	D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.96163	0.8749	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.996;0.999;0.999;0.997;0.999;0.996;0.999	D	0.96297	0.9218	10	0.87932	D	0	-10.0178	18.799	0.92008	0.0:0.0:1.0:0.0	.	846;882;864;883;900;919;901;937	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	H	919;882;937;901;900;883;74	ENSP00000354681:R919H;ENSP00000376233:R882H;ENSP00000355324:R937H;ENSP00000355311:R901H;ENSP00000354429:R900H;ENSP00000354781:R883H;ENSP00000398358:R74H	ENSP00000354781:R883H	R	+	2	0	OPA1	194866810	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.678000	0.91216	0.555000	0.69702	CGT		0.358	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		4	221	0	0	0	0.021553	0	4	221				
ZNF563	147837	broad.mit.edu	37	19	12429722	12429722	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr19:12429722T>C	ENST00000293725.5	-	4	1322	c.1117A>G	c.(1117-1119)Acg>Gcg	p.T373A		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAGATAACGTTTTCCCACAC	0.413																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1117-1119)Acg>Gcg		zinc finger protein 563							191.0	181.0	184.0					19																	12429722		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429722T>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1117A>G	19.37:g.12429722T>C	ENSP00000293725:p.Thr373Ala		Somatic					p.T373A	NM_145276.2	NP_660319.1	WXS	Illumina GAIIx	Phase_I	Q8TA94	ZN563_HUMAN			4	1322	-			373					B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.1117A>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.253024	0.00268	.	.	ENSG00000188868	ENST00000293725	T	0.03745	3.82	1.0	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01320	0.0043	N	0.05259	-0.085	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45963	-0.9225	9	0.02654	T	1	.	2.3025	0.04165	0.3613:0.2701:0.0:0.3686	.	373	Q8TA94	ZN563_HUMAN	A	373	ENSP00000293725:T373A	ENSP00000293725:T373A	T	-	1	0	ZNF563	12290722	0.000000	0.05858	0.003000	0.11579	0.233000	0.25261	-3.012000	0.00647	-0.501000	0.06605	-0.765000	0.03448	ACG		0.413	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		6	406	0	0	0	0.021553	0	6	406				
OR51F1	256892	broad.mit.edu	37	11	4791095	4791095	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr11:4791095C>T	ENST00000380383.1	-	1	73	c.74G>A	c.(73-75)gGc>gAc	p.G25D	MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.G18D|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCCAGGAATGCCGGTCAACAA	0.458																																						ENST00000380383.1																			0				kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(73-75)gGc>gAc		olfactory receptor, family 51, subfamily F, member 1							45.0	48.0	47.0					11																	4791095		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4791095C>T	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.74G>A	11.37:g.4791095C>T	ENSP00000369744:p.Gly25Asp		Somatic				OR51F1_ENST00000343430.3_Missense_Mutation_p.G18D|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.G25D			WXS	Illumina GAIIx	Phase_I	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	73	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	18						Missense_Mutation	SNP	ENST00000380383.1	37	c.74G>A		.	.	.	.	.	.	.	.	.	.	C	10.61	1.398706	0.25205	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00655	5.95;5.95	4.81	0.581	0.17407	.	0.283346	0.24848	N	0.035102	T	0.01940	0.0061	H	0.94847	3.59	0.09310	N	1	P	0.40578	0.722	B	0.40477	0.33	T	0.32534	-0.9903	10	0.87932	D	0	.	3.4274	0.07416	0.3067:0.4601:0.1487:0.0844	.	25	A6NGY5	O51F1_HUMAN	D	18;25	ENSP00000345163:G18D;ENSP00000369744:G25D	ENSP00000345163:G18D	G	-	2	0	OR51F1	4747671	0.009000	0.17119	0.006000	0.13384	0.234000	0.25298	1.458000	0.35223	-0.035000	0.13691	-0.291000	0.09656	GGC		0.458	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		3	60	0	0	0	0.150653	0	3	60				
PRX	57716	broad.mit.edu	37	19	40901891	40901891	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr19:40901891C>G	ENST00000324001.7	-	7	2638	c.2368G>C	c.(2368-2370)Gaa>Caa	p.E790Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	790					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTGCCTGTTCTGCCTTGGTG	0.597																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(2368-2370)Gaa>Caa		periaxin							123.0	102.0	109.0					19																	40901891		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901891C>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2368G>C	19.37:g.40901891C>G	ENSP00000326018:p.Glu790Gln		Somatic				PRX_ENST00000291825.7_3'UTR	p.E790Q	NM_181882.2	NP_870998.2	WXS	Illumina GAIIx	Phase_I	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2638	-			790					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2368G>C	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697406	0.68386	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01119	5.31	5.15	4.08	0.47627	.	0.183735	0.34435	N	0.003979	T	0.03871	0.0109	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.60826	-0.7186	10	0.18276	T	0.48	-21.7691	9.4532	0.38739	0.1624:0.6808:0.1569:0.0	.	790	Q9BXM0	PRAX_HUMAN	Q	790	ENSP00000326018:E790Q	ENSP00000326018:E790Q	E	-	1	0	PRX	45593731	0.017000	0.18338	0.327000	0.25402	0.193000	0.23685	0.217000	0.17603	1.098000	0.41479	0.655000	0.94253	GAA		0.597	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		6	205	0	0	0	0.021553	0	6	205				
RP11-526A4.1	0	broad.mit.edu	37	4	150544871	150544872	+	lincRNA	DEL	GT	GT	-	rs368936158|rs113908353|rs386418146		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr4:150544871_150544872delGT	ENST00000511993.1	-	0	997																											TGAATCCCAGgtgtgtgtgtgt	0.396																																						ENST00000511993.1																			0																																																			0							g.chr4:150544871_150544872delGT																													4.37:g.150544881_150544882delGT			Somatic								WXS	Illumina GAIIx	Phase_I					0	997	-									RNA	DEL	ENST00000511993.1	37																																																																																						0.396	RP11-526A4.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000364766.1			3	6						3	6	---	---	---	---
LOC102724623	102724623	broad.mit.edu	37	8	65102089	65102092	+	RNA	DEL	GAAA	GAAA	-	rs150892586		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr8:65102089_65102092delGAAA	ENST00000524360.1	-	0	128				RP11-32K4.1_ENST00000521958.1_RNA|RP11-32K4.1_ENST00000523191.1_RNA|RP11-32K4.1_ENST00000520365.1_RNA																							aggaaggaaggaaagaaggaagga	0.431																																						ENST00000524360.1																			0																																																			102724623							g.chr8:65102089_65102092delGAAA																													8.37:g.65102089_65102092delGAAA			Somatic				RP11-32K4.1_ENST00000520365.1_RNA|RP11-32K4.1_ENST00000523191.1_RNA|RP11-32K4.1_ENST00000521958.1_RNA				WXS	Illumina GAIIx	Phase_I					0	128	-									RNA	DEL	ENST00000524360.1	37																																																																																						0.431	RP11-32K4.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000378630.1			4	6						4	6	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89405323	89405326	+	RNA	DEL	TTTA	TTTA	-	rs539338573|rs34562444	byFrequency	TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr11:89405323_89405326delTTTA	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aattatattgtttatttatttttg	0.23														1083	0.216254	0.1286	0.2435	5008	,	,		17643	0.1319		0.3718	False		,,,				2504	0.2423					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405323_89405326delTTTA	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405327_89405330delTTTA			Somatic								WXS	Illumina GAIIx	Phase_I	Q9HBA9	FOH1B_HUMAN			0	1114	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.230	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		3	5						3	5	---	---	---	---
LARP4	113251	broad.mit.edu	37	12	50831576	50831580	+	Frame_Shift_Del	DEL	TTGTA	TTGTA	-			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr12:50831576_50831580delTTGTA	ENST00000398473.2	+	6	706_710	c.594_598delTTGTA	c.(592-600)cgttgtattfs	p.CI199fs	LARP4_ENST00000522085.1_Frame_Shift_Del_p.CI199fs|LARP4_ENST00000518444.1_Frame_Shift_Del_p.CI198fs|LARP4_ENST00000518561.1_Frame_Shift_Del_p.CI129fs|LARP4_ENST00000293618.8_Frame_Shift_Del_p.CI199fs|LARP4_ENST00000347328.5_Frame_Shift_Del_p.CI199fs|LARP4_ENST00000429001.3_Frame_Shift_Del_p.CI205fs	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	199	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R198R(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTCATAAGCGTTGTATTGTAATTCT	0.332																																						ENST00000398473.2																			1	Substitution - coding silent(1)	p.R198R(1)	kidney(1)	breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(592-600)cgttfs		La ribonucleoprotein domain family, member 4																																				SO:0001589	frameshift_variant	113251						nucleotide binding|RNA binding	g.chr12:50831576_50831580delTTGTA	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.594_598delTTGTA	12.37:g.50831581_50831585delTTGTA	ENSP00000381490:p.Cys199fs		Somatic				LARP4_ENST00000518444.1_Frame_Shift_Del_p.RCI197fs|LARP4_ENST00000347328.5_Frame_Shift_Del_p.RCI198fs|LARP4_ENST00000522085.1_Frame_Shift_Del_p.RCI198fs|LARP4_ENST00000518561.1_Frame_Shift_Del_p.RCI128fs|LARP4_ENST00000293618.8_Frame_Shift_Del_p.RCI198fs|LARP4_ENST00000429001.3_Frame_Shift_Del_p.RCI204fs	p.RCI198fs	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	WXS	Illumina GAIIx	Phase_I	Q71RC2	LARP4_HUMAN			6	706_710	+			198			HTH La-type RNA-binding.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Frame_Shift_Del	DEL	ENST00000398473.2	37	c.594_598delTTGTA	CCDS41782.1																																																																																				0.332	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		32	123						32	123	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr12:113704096_113704098delCTG	ENST00000335509.6	+	4	663_665	c.349_351delCTG	c.(349-351)ctgdel	p.L122del	TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000550785.1_In_Frame_Del_p.L194del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.64																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(565-567)del		two pore segment channel 1																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704096_113704098delCTG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.349_351delCTG	12.37:g.113704105_113704107delCTG	ENSP00000335300:p.Leu122del		Somatic				TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del	p.L194del	NM_001143819.1	NP_001137291.1	WXS	Illumina GAIIx	Phase_I	Q9ULQ1	TPC1_HUMAN			5	734_736	+			122					A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.565_567delCTG	CCDS31908.1																																																																																				0.640	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		7	686						7	686	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124856836	124856837	+	Frame_Shift_Ins	INS	-	-	G	rs532518067		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr12:124856836_124856837insG	ENST00000405201.1	-	20	2538_2539	c.2538_2539insC	c.(2536-2541)cccgcgfs	p.A847fs	NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.A830fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.A829fs|NCOR2_ENST00000356219.3_Frame_Shift_Ins_p.A847fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.A400fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.A829fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	847					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCTCAGCCGCGGGGGGCTTCT	0.698																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2536-2541)cccggcfs		nuclear receptor corepressor 2																																				SO:0001589	frameshift_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124856836_124856837insG	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2539dupC	12.37:g.124856842_124856842dupG	ENSP00000384018:p.Ala847fs		Somatic				NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.G847fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.G829fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.G829fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.G400fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.G830fs	p.G847fs	NM_006312.5	NP_006303.4	WXS	Illumina GAIIx	Phase_I	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	21	2693_2694	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		847					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Ins	INS	ENST00000405201.1	37	c.2538_2539insC	CCDS41858.2																																																																																				0.698	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		15	68						15	68	---	---	---	---
RP11-449D8.5	0	broad.mit.edu	37	18	22328645	22328646	+	lincRNA	INS	-	-	T	rs200734396|rs146299092		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr18:22328645_22328646insT	ENST00000582650.1	+	0	235																											tccttccttcctccttccctcc	0.485																																						ENST00000582650.1																			0																																																			0							g.chr18:22328645_22328646insT																													18.37:g.22328646_22328646dupT			Somatic								WXS	Illumina GAIIx	Phase_I					0	235	+									RNA	INS	ENST00000582650.1	37																																																																																						0.485	RP11-449D8.5-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000446765.1			3	5						3	5	---	---	---	---
CTD-2189E23.1	0	broad.mit.edu	37	19	14392048	14392049	+	lincRNA	INS	-	-	CCTT	rs373441208|rs542060153|rs374396007	byFrequency	TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr19:14392048_14392049insCCTT	ENST00000592263.1	-	0	292																											ctgcacccagcccttccttcct	0.535														1593	0.318091	0.4357	0.2896	5008	,	,		14478	0.2758		0.2286	False		,,,				2504	0.3149					ENST00000592263.1																			0																																																			0							g.chr19:14392048_14392049insCCTT																													19.37:g.14392053_14392056dupCCTT			Somatic								WXS	Illumina GAIIx	Phase_I					0	292	-									RNA	INS	ENST00000592263.1	37																																																																																						0.535	CTD-2189E23.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000459812.1			3	3						3	3	---	---	---	---
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398																																						ENST00000444162.1																			0																																																			0							g.chr22:16419352delT																													22.37:g.16419352delT			Somatic								WXS	Illumina GAIIx	Phase_I					0	279	+									RNA	DEL	ENST00000444162.1	37																																																																																						0.398	LA16c-23H5.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000074929.2			2	4						2	4	---	---	---	---
PLP2	5355	broad.mit.edu	37	X	49028442	49028443	+	Splice_Site	INS	-	-	G			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chrX:49028442_49028443insG	ENST00000376327.5	+	1	170_171	c.95_96insG	c.(94-99)attata>atGtata	p.II32fs	PLP2_ENST00000376322.3_Splice_Site_p.II32fs	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	32	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						TTTGCTGAGATTGTGAGCGTTC	0.653																																						ENST00000376327.5																			0				endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						c.e1+1		proteolipid protein 2 (colonic epithelium-enriched)																																				SO:0001630	splice_region_variant	5355				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	g.chrX:49028442_49028443insG	L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"""A4 differentiation-dependent protein"""	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	ENST00000376327.5:c.96+1->G	X.37:g.49028442_49028443insG			Somatic				PLP2_ENST00000376322.3_Splice_Site_p.N32_splice	p.N32_splice	NM_002668.2	NP_002659.1	WXS	Illumina GAIIx	Phase_I	Q04941	PLP2_HUMAN			1	170_171	+			32			MARVEL.		A6NDT7|Q32MM8	Splice_Site	INS	ENST00000376327.5	37	c.96_splice	CCDS14319.1																																																																																				0.653	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056540.1	NM_002668	Frame_Shift_Ins	13	9						13	9	---	---	---	---
