#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC44A4	80736	broad.mit.edu	37	6	31833747	31833747	+	Missense_Mutation	SNP	C	C	T	rs149591801	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:31833747C>T	ENST00000229729.6	-	14	1410	c.1390G>A	c.(1390-1392)Gtc>Atc	p.V464I	SLC44A4_ENST00000375562.4_Missense_Mutation_p.V422I|SLC44A4_ENST00000544672.1_Missense_Mutation_p.V388I	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	464					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V464I(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCAGCGAGGACGCATTGGCCC	0.557													C|||	6	0.00119808	0.0	0.0	5008	,	,		19077	0.0		0.0	False		,,,				2504	0.0061					ENST00000544672.1																			2	Substitution - Missense(2)	p.V464I(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(1162-1164)Gtc>Atc		solute carrier family 44, member 4	Choline(DB00122)	C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	69.0	67.0	68.0		1264,1162,1390	4.3	1.0	6	dbSNP_134	68	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	SLC44A4	NM_001178044.1,NM_001178045.1,NM_025257.2	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	422/669,388/635,464/711	31833747	2,13004	2203	4300	6503	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31833747C>T	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1390G>A	6.37:g.31833747C>T	ENSP00000229729:p.Val464Ile					SLC44A4_ENST00000375562.4_Missense_Mutation_p.V422I|SLC44A4_ENST00000229729.6_Missense_Mutation_p.V464I	p.V388I	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			14	1458	-			464					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.1162G>A	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666032	0.47677	0.0	2.33E-4	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.24350	1.86;1.86;1.86	5.21	4.34	0.51931	.	0.136893	0.49916	D	0.000127	T	0.19127	0.0459	L	0.58583	1.82	0.33101	D	0.539257	P	0.48503	0.911	P	0.46940	0.532	T	0.03957	-1.0989	10	0.46703	T	0.11	-17.9757	12.7587	0.57350	0.0:0.9198:0.0:0.0802	.	464	Q53GD3	CTL4_HUMAN	I	464;422;388	ENSP00000229729:V464I;ENSP00000364712:V422I;ENSP00000444109:V388I	ENSP00000229729:V464I	V	-	1	0	SLC44A4	31941726	0.995000	0.38212	1.000000	0.80357	0.863000	0.49368	2.759000	0.47573	1.434000	0.47414	0.655000	0.94253	GTC		0.557	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			40	73	0	0	0	1	0	40	73				
SVIL	6840	broad.mit.edu	37	10	29843734	29843734	+	Silent	SNP	G	G	A	rs371700516		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:29843734G>A	ENST00000355867.4	-	5	890	c.138C>T	c.(136-138)agC>agT	p.S46S	SVIL_ENST00000375400.3_Silent_p.S46S|SVIL_ENST00000375398.2_Silent_p.S46S	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	46	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGGCAGGGTCGCTGGCTCTCA	0.592																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(136-138)agC>agT		supervillin		G	,	0,4406		0,0,2203	32.0	32.0	32.0		138,138	-7.1	0.7	10		32	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SVIL	NM_003174.3,NM_021738.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	46/1789,46/2215	29843734	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29843734G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.138C>T	10.37:g.29843734G>A						SVIL_ENST00000355867.4_Silent_p.S46S|SVIL_ENST00000375400.3_Silent_p.S46S	p.S46S			O95425	SVIL_HUMAN			7	587	-		Breast(68;0.103)	46			Interaction with MYLK (By similarity).		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.138C>T	CCDS7164.1																																																																																				0.592	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			20	19	0	0	0	1	0	20	19				
TTC22	55001	broad.mit.edu	37	1	55251777	55251777	+	Missense_Mutation	SNP	C	C	T	rs145786276		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:55251777C>T	ENST00000371276.4	-	5	1002	c.899G>A	c.(898-900)cGc>cAc	p.R300H	TTC22_ENST00000371274.4_Missense_Mutation_p.R300H	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	300										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TTTTGCCAGGCGATTCAGGAT	0.502																																						ENST00000371276.4																			0				kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						c.(898-900)cGc>cAc		tetratricopeptide repeat domain 22		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	115.0	98.0	104.0		899,899	3.6	1.0	1	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TTC22	NM_001114108.1,NM_017904.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	300/570,300/373	55251777	1,13005	2203	4300	6503	SO:0001583	missense	55001						binding	g.chr1:55251777C>T	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.899G>A	1.37:g.55251777C>T	ENSP00000360323:p.Arg300His					TTC22_ENST00000371274.4_Missense_Mutation_p.R300H	p.R300H	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN			5	1002	-			300					Q9NWT4	Missense_Mutation	SNP	ENST00000371276.4	37	c.899G>A	CCDS44152.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956289	0.73902	0.0	1.16E-4	ENSG00000006555	ENST00000371276;ENST00000371274;ENST00000448308	T;T;T	0.73789	-0.78;1.54;0.18	4.53	3.62	0.41486	Tetratricopeptide-like helical (1);	0.067118	0.64402	D	0.000009	T	0.62841	0.2461	L	0.32530	0.975	0.49051	D	0.999745	B;B	0.25007	0.022;0.116	B;B	0.17098	0.005;0.017	T	0.62996	-0.6735	10	0.72032	D	0.01	-25.7824	11.816	0.52211	0.0:0.9131:0.0:0.0869	.	300;300	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	H	300;300;81	ENSP00000360323:R300H;ENSP00000360321:R300H;ENSP00000390300:R81H	ENSP00000360321:R300H	R	-	2	0	TTC22	55024365	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.959000	0.49153	1.126000	0.42016	0.561000	0.74099	CGC		0.502	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		19	25	0	0	0	1	0	19	25				
OR2T1	26696	broad.mit.edu	37	1	248569431	248569431	+	Missense_Mutation	SNP	G	G	A	rs193920936		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:248569431G>A	ENST00000366474.1	+	1	136	c.136G>A	c.(136-138)Ggc>Agc	p.G46S		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	46						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(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTTATATCGGCACAACTGT	0.383																																						ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(136-138)Ggc>Agc		olfactory receptor, family 2, subfamily T, member 1							153.0	151.0	152.0					1																	248569431		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569431G>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.136G>A	1.37:g.248569431G>A	ENSP00000355430:p.Gly46Ser						p.G46S	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	136	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		46					Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.136G>A	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	G	0.121	-1.125018	0.01770	.	.	ENSG00000175143	ENST00000366474	T	0.02631	4.22	4.75	3.62	0.41486	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47959	-0.9076	9	0.02654	T	1	.	4.3922	0.11346	0.7313:0.0:0.0957:0.173	.	46	O43869	OR2T1_HUMAN	S	46	ENSP00000355430:G46S	ENSP00000355430:G46S	G	+	1	0	OR2T1	246636054	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.571000	0.05889	0.770000	0.33336	-0.350000	0.07774	GGC		0.383	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			28	77	0	0	0	1	0	28	77				
FCHO1	23149	broad.mit.edu	37	19	17899082	17899082	+	Intron	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:17899082C>T	ENST00000596536.1	+	29	2930				FCHO1_ENST00000594202.1_Missense_Mutation_p.A884V|FCHO1_ENST00000597512.1_Intron|FCHO1_ENST00000539407.1_Intron|FCHO1_ENST00000252771.7_Intron|FCHO1_ENST00000596951.1_Intron|FCHO1_ENST00000595033.1_Intron|FCHO1_ENST00000389133.4_Intron|FCHO1_ENST00000600676.1_Intron	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1						clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CTCACAGCTGCACCCCCACAG	0.647																																						ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.(2650-2652)gCa>gTa		FCH domain only 1							24.0	21.0	22.0					19																	17899082		2203	4298	6501	SO:0001627	intron_variant	23149							g.chr19:17899082C>T	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2648-11C>T	19.37:g.17899082C>T						FCHO1_ENST00000596951.1_Intron|FCHO1_ENST00000597512.1_Intron|FCHO1_ENST00000252771.7_Intron|FCHO1_ENST00000539407.1_Intron|FCHO1_ENST00000595033.1_Intron|FCHO1_ENST00000600676.1_Intron|FCHO1_ENST00000389133.4_Intron|FCHO1_ENST00000596536.1_Intron	p.A884V	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN			29	2930	+			0					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.2651C>T	CCDS32955.1																																																																																				0.647	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		13	12	0	0	0	1	0	13	12				
C1orf110	339512	broad.mit.edu	37	1	162825078	162825078	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:162825078C>T	ENST00000367910.1	-	4	506	c.386G>A	c.(385-387)gGc>gAc	p.G129D	C1orf110_ENST00000367911.2_Missense_Mutation_p.G124D|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.2_Missense_Mutation_p.G128D	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	129										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GTCTTTGAGGCCAGCATCATG	0.463																																						ENST00000367912.1																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(382-384)gGc>gAc		chromosome 1 open reading frame 110							186.0	182.0	183.0					1																	162825078		1891	4124	6015	SO:0001583	missense	339512							g.chr1:162825078C>T	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.386G>A	1.37:g.162825078C>T	ENSP00000356886:p.Gly129Asp					C1orf110_ENST00000367911.2_Missense_Mutation_p.G124D|C1orf110_ENST00000367910.1_Missense_Mutation_p.G129D|C1orf110_ENST00000524691.1_Intron	p.G128D			Q86UF4	CA110_HUMAN			4	557	-			129					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.383G>A	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133336	0.37630	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	3.44	-0.763	0.11030	.	0.650998	0.14412	N	0.321227	T	0.19446	0.0467	M	0.63428	1.95	0.28426	N	0.917476	B;B	0.27498	0.18;0.18	B;B	0.28465	0.09;0.09	T	0.08617	-1.0713	8	0.52906	T	0.07	0.0457	2.4566	0.04531	0.1816:0.3529:0.355:0.1105	.	128;129	Q86UF4-2;Q86UF4	.;CA110_HUMAN	D	128;124;129	.	ENSP00000356886:G129D	G	-	2	0	C1orf110	161091702	0.003000	0.15002	0.001000	0.08648	0.000000	0.00434	0.181000	0.16880	-0.149000	0.11215	-0.898000	0.02899	GGC		0.463	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		175	296	0	0	0	1	0	175	296				
TNRC6B	23112	broad.mit.edu	37	22	40711382	40711382	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr22:40711382T>C	ENST00000454349.2	+	20	4985	c.4774T>C	c.(4774-4776)Tcc>Ccc	p.S1592P	TNRC6B_ENST00000335727.9_Missense_Mutation_p.S1482P|TNRC6B_ENST00000301923.9_Missense_Mutation_p.S788P|TNRC6B_ENST00000402203.1_Missense_Mutation_p.S788P	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1592	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CCATATTTCCTCCAGGAACAC	0.537																																						ENST00000454349.2																			0				breast(1)	1						c.(4774-4776)Tcc>Ccc		trinucleotide repeat containing 6B							89.0	89.0	89.0					22																	40711382		1999	4151	6150	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40711382T>C	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4774T>C	22.37:g.40711382T>C	ENSP00000401946:p.Ser1592Pro					TNRC6B_ENST00000335727.8_Missense_Mutation_p.S1482P|TNRC6B_ENST00000301923.9_Missense_Mutation_p.S788P|TNRC6B_ENST00000402203.1_Missense_Mutation_p.S788P	p.S1592P	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			20	4985	+			1592					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.4774T>C	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.546997	0.27652	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	6.16	6.16	0.99307	.	0.240302	0.44285	D	0.000463	T	0.50973	0.1647	L	0.28014	0.82	0.41565	D	0.988651	D;D;D;D	0.63046	0.99;0.967;0.981;0.992	D;D;D;D	0.73708	0.969;0.939;0.972;0.981	T	0.43669	-0.9377	10	0.02654	T	1	-7.4338	15.3771	0.74615	0.0:0.0:0.0:1.0	.	1592;1482;1482;788	Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.;.	P	788;788;1592;1482;1482	ENSP00000306759:S788P;ENSP00000384795:S788P;ENSP00000401946:S1592P;ENSP00000338371:S1482P	ENSP00000306759:S788P	S	+	1	0	TNRC6B	39041328	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.861000	0.48380	2.367000	0.80283	0.528000	0.53228	TCC		0.537	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				7	70	0	0	0	1	0	7	70				
NBEA	26960	broad.mit.edu	37	13	36242543	36242543	+	Silent	SNP	C	C	T	rs371704256		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr13:36242543C>T	ENST00000400445.3	+	57	9171	c.8637C>T	c.(8635-8637)acC>acT	p.T2879T	NBEA_ENST00000379922.3_Silent_p.T457T|NBEA_ENST00000540320.1_Silent_p.T2879T|NBEA_ENST00000310336.4_Silent_p.T2879T|NBEA_ENST00000379939.2_Silent_p.T2876T|NBEA_ENST00000537702.1_Silent_p.T672T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2879					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACCTGGTCACCGGAGGGGACA	0.443																																						ENST00000400445.3																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(8635-8637)acC>acT		neurobeachin		C	,	1,3811		0,1,1905	46.0	48.0	47.0		2016,8637	-11.8	0.0	13		47	0,8242		0,0,4121	no	coding-synonymous,coding-synonymous	NBEA	NM_001204197.1,NM_015678.4	,	0,1,6026	TT,TC,CC		0.0,0.0262,0.0083	,	672/740,2879/2947	36242543	1,12053	1906	4121	6027	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36242543C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8637C>T	13.37:g.36242543C>T						NBEA_ENST00000310336.4_Silent_p.T2879T|NBEA_ENST00000379939.2_Silent_p.T2876T|NBEA_ENST00000537702.1_Silent_p.T672T|NBEA_ENST00000379922.3_Silent_p.T457T|NBEA_ENST00000540320.1_Silent_p.T2879T	p.T2879T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	57	9171	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2879					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.8637C>T	CCDS45026.1																																																																																				0.443	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		14	0	0	0	0	1	0	14	0				
TRPM3	80036	broad.mit.edu	37	9	73736211	73736211	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:73736211C>A	ENST00000377111.2	-	1	303	c.60G>T	c.(58-60)ttG>ttT	p.L20F	TRPM3_ENST00000377110.3_Missense_Mutation_p.L20F|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000423814.3_Intron	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	20					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACCAGGAAAACAAGAAACTGA	0.512																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(58-60)ttG>ttT		transient receptor potential cation channel, subfamily M, member 3							83.0	84.0	84.0					9																	73736211		1921	4121	6042	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73736211C>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.60G>T	9.37:g.73736211C>A	ENSP00000366315:p.Leu20Phe					TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000377111.2_Missense_Mutation_p.L20F|TRPM3_ENST00000423814.3_Intron	p.L20F	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			1	303	-			20					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.60G>T		.	.	.	.	.	.	.	.	.	.	C	10.80	1.452940	0.26161	.	.	ENSG00000083067	ENST00000377111;ENST00000377110	T;T	0.60040	0.22;0.4	4.29	2.39	0.29439	.	.	.	.	.	T	0.32526	0.0832	N	0.08118	0	0.80722	D	1	B;B;B	0.14805	0.002;0.011;0.011	B;B;B	0.16289	0.001;0.015;0.015	T	0.08764	-1.0706	9	0.46703	T	0.11	.	5.6267	0.17487	0.1922:0.7064:0.0:0.1014	.	20;20;20	Q9HCF6;Q9HCF6-2;Q9HCF6-10	TRPM3_HUMAN;.;.	F	20	ENSP00000366315:L20F;ENSP00000366314:L20F	ENSP00000366314:L20F	L	-	3	2	TRPM3	72926031	0.560000	0.26570	0.828000	0.32881	0.818000	0.46254	0.344000	0.19962	0.714000	0.32081	0.557000	0.71058	TTG		0.512	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		82	6	1	0	1.26005e-42	1	1.59757e-42	82	6				
YME1L1	10730	broad.mit.edu	37	10	27437875	27437875	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:27437875T>C	ENST00000326799.3	-	2	276	c.128A>G	c.(127-129)cAt>cGt	p.H43R	YME1L1_ENST00000375972.3_Missense_Mutation_p.H43R|YME1L1_ENST00000376016.3_Missense_Mutation_p.H43R|YME1L1_ENST00000477432.1_Missense_Mutation_p.H43R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	43					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TACATCTCGATGCTGGTTTTG	0.428																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(127-129)cAt>cGt		YME1-like 1 ATPase							207.0	205.0	205.0					10																	27437875		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27437875T>C	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.128A>G	10.37:g.27437875T>C	ENSP00000318480:p.His43Arg					YME1L1_ENST00000477432.1_Missense_Mutation_p.H43R|YME1L1_ENST00000375972.3_Missense_Mutation_p.H43R|YME1L1_ENST00000376016.3_Missense_Mutation_p.H43R	p.H43R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			2	276	-			43					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.128A>G	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.343470	0.61073	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000427324;ENST00000396296	D;D;D	0.92858	-3.02;-3.12;-3.03	5.49	5.49	0.81192	Peptidase M41, FtsH (1);	0.335977	0.38111	N	0.001806	D	0.90916	0.7145	N	0.24115	0.695	0.36279	D	0.855652	B;D;B;B	0.56035	0.006;0.974;0.01;0.259	B;P;B;B	0.59171	0.01;0.853;0.014;0.05	D	0.90135	0.4209	10	0.15499	T	0.54	-14.8124	15.603	0.76639	0.0:0.0:0.0:1.0	.	43;43;43;43	B4DNM1;Q6PJ89;Q96TA2-2;Q96TA2	.;.;.;YMEL1_HUMAN	R	43;43;43;43;43;35	ENSP00000365184:H43R;ENSP00000318480:H43R;ENSP00000365139:H43R	ENSP00000318480:H43R	H	-	2	0	YME1L1	27477881	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.133000	0.64764	2.086000	0.62901	0.533000	0.62120	CAT		0.428	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		127	69	0	0	0	1	0	127	69				
CYTIP	9595	broad.mit.edu	37	2	158272436	158272436	+	Missense_Mutation	SNP	G	G	A	rs367635230		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:158272436G>A	ENST00000264192.3	-	8	954	c.833C>T	c.(832-834)aCg>aTg	p.T278M	CYTIP_ENST00000540637.1_Missense_Mutation_p.T172M	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	278	Ser-rich.			T -> Q (in Ref. 6; AAA16575). {ECO:0000305}.	regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ATCTGTACTCGTCTGCCGACT	0.542																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(832-834)aCg>aTg		cytohesin 1 interacting protein							98.0	91.0	93.0					2																	158272436		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272436G>A	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.833C>T	2.37:g.158272436G>A	ENSP00000264192:p.Thr278Met					CYTIP_ENST00000540637.1_Missense_Mutation_p.T172M	p.T278M	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			8	954	-			278	T -> Q (in Ref. 5; AAA16575).		Ser-rich.		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.833C>T	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896619	0.91962	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.46451	2.17;0.87	5.96	5.96	0.96718	.	0.307228	0.35067	N	0.003468	T	0.57917	0.2086	M	0.63428	1.95	0.36972	D	0.89387	D	0.89917	1.0	P	0.54706	0.759	T	0.61840	-0.6980	10	0.52906	T	0.07	-7.0724	19.9958	0.97383	0.0:0.0:1.0:0.0	.	278	O60759	CYTIP_HUMAN	M	278;172	ENSP00000264192:T278M;ENSP00000440801:T172M	ENSP00000264192:T278M	T	-	2	0	CYTIP	157980682	0.998000	0.40836	0.994000	0.49952	0.945000	0.59286	4.193000	0.58385	2.826000	0.97356	0.655000	0.94253	ACG		0.542	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		13	48	0	0	0	1	0	13	48				
VCX	26609	broad.mit.edu	37	X	7811258	7811258	+	Missense_Mutation	SNP	C	C	T	rs374403270		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:7811258C>T	ENST00000381059.3	+	2	233	c.14C>T	c.(13-15)cCg>cTg	p.P5L	VCX_ENST00000341408.4_Missense_Mutation_p.P5L	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	5					chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				AGTCCAAAGCCGAGAGCCTCG	0.622																																						ENST00000381059.3																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(13-15)cCg>cTg		variable charge, X-linked		C	LEU/PRO	0,3781		0,0,1623,535	30.0	29.0	29.0		14	-0.3	0.0	X		29	5,6566		0,5,2407,1747	no	missense	VCX	NM_013452.2	98	0,5,4030,2282	TT,TC,CC,C		0.0761,0.0,0.0483	probably-damaging	5/207	7811258	5,10347	2158	4159	6317	SO:0001583	missense	26609				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding	g.chrX:7811258C>T	AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"""variable charge, X chromosome"""			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.14C>T	X.37:g.7811258C>T	ENSP00000370447:p.Pro5Leu					VCX_ENST00000341408.4_Missense_Mutation_p.P5L	p.P5L	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN			2	233	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	5					A0JNS5|Q4V774|Q9P0H3	Missense_Mutation	SNP	ENST00000381059.3	37	c.14C>T	CCDS14128.1	.	.	.	.	.	.	.	.	.	.	-	3.925	-0.017436	0.07681	0.0	7.61E-4	ENSG00000182583	ENST00000381059;ENST00000341408	T;T	0.16597	2.33;2.33	0.167	-0.333	0.12671	.	.	.	.	.	T	0.07954	0.0199	N	0.19112	0.55	0.09310	N	1	D	0.60575	0.988	B	0.38683	0.279	T	0.21861	-1.0233	8	0.72032	D	0.01	.	.	.	.	.	5	Q9H320	VCX1_HUMAN	L	5	ENSP00000370447:P5L;ENSP00000344144:P5L	ENSP00000344144:P5L	P	+	2	0	VCX	7771258	0.006000	0.16342	0.001000	0.08648	0.001000	0.01503	-1.063000	0.03465	-0.978000	0.03533	-0.988000	0.02552	CCG		0.622	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071474.1	NM_013452		30	221	0	0	0	1	0	30	221				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	16	0	0	0	1	0	3	16				
CUX2	23316	broad.mit.edu	37	12	111785693	111785693	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:111785693C>G	ENST00000261726.6	+	22	4179	c.4025C>G	c.(4024-4026)cCa>cGa	p.P1342R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1342	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GATGGACTCCCAAAAGTGGCT	0.642																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(4024-4026)cCa>cGa		cut-like homeobox 2							71.0	81.0	78.0					12																	111785693		1922	4096	6018	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785693C>G	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4025C>G	12.37:g.111785693C>G	ENSP00000261726:p.Pro1342Arg						p.P1342R	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			22	4179	+			1342			Pro-rich.		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.4025C>G	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	0.087	-1.172858	0.01646	.	.	ENSG00000111249	ENST00000261726	T	0.44482	0.92	5.44	0.066	0.14359	.	0.677681	0.14296	N	0.328622	T	0.20618	0.0496	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18871	-1.0323	10	0.13108	T	0.6	-1.2542	3.4813	0.07603	0.3093:0.4751:0.1025:0.113	.	1342	O14529	CUX2_HUMAN	R	1342	ENSP00000261726:P1342R	ENSP00000261726:P1342R	P	+	2	0	CUX2	110270076	0.000000	0.05858	0.082000	0.20525	0.024000	0.10985	-0.103000	0.10940	0.275000	0.22094	-0.270000	0.10280	CCA		0.642	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		42	145	0	0	0	1	0	42	145				
ARMC8	25852	broad.mit.edu	37	3	137942260	137942260	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:137942260C>T	ENST00000469044.1	+	4	495	c.224C>T	c.(223-225)tCa>tTa	p.S75L	ARMC8_ENST00000538260.1_Missense_Mutation_p.S75L|ARMC8_ENST00000358441.2_Missense_Mutation_p.S61L|ARMC8_ENST00000471453.1_Missense_Mutation_p.S61L|ARMC8_ENST00000470821.1_Missense_Mutation_p.S75L|ARMC8_ENST00000461822.1_Missense_Mutation_p.S75L|ARMC8_ENST00000485396.1_Missense_Mutation_p.S33L|ARMC8_ENST00000489213.1_Missense_Mutation_p.S33L|ARMC8_ENST00000491704.1_Missense_Mutation_p.S33L|ARMC8_ENST00000481646.1_Missense_Mutation_p.S61L|ARMC8_ENST00000393058.3_Missense_Mutation_p.S65L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	75										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CAAGAAACCTCAAGCACAGAG	0.383																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(223-225)tCa>tTa		armadillo repeat containing 8							80.0	78.0	79.0					3																	137942260		2203	4300	6503	SO:0001583	missense	25852						binding	g.chr3:137942260C>T		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.224C>T	3.37:g.137942260C>T	ENSP00000419413:p.Ser75Leu					ARMC8_ENST00000538260.1_Missense_Mutation_p.S75L|ARMC8_ENST00000461822.1_Missense_Mutation_p.S75L|ARMC8_ENST00000358441.2_Missense_Mutation_p.S61L|ARMC8_ENST00000485396.1_Missense_Mutation_p.S33L|ARMC8_ENST00000489213.1_Missense_Mutation_p.S33L|ARMC8_ENST00000471453.1_Missense_Mutation_p.S61L|ARMC8_ENST00000393058.3_Missense_Mutation_p.S65L|ARMC8_ENST00000481646.1_Missense_Mutation_p.S61L|ARMC8_ENST00000470821.1_Missense_Mutation_p.S75L|ARMC8_ENST00000491704.1_Missense_Mutation_p.S33L	p.S75L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN			4	495	+			75					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.224C>T		.	.	.	.	.	.	.	.	.	.	C	18.40	3.616551	0.66672	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461600;ENST00000466749;ENST00000358441;ENST00000489213;ENST00000461822;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000471709;ENST00000538260;ENST00000393058	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;-0.23	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76751	0.4031	L	0.44542	1.39	0.80722	D	1	B;P;B;D;B;P;P	0.59357	0.441;0.925;0.387;0.985;0.387;0.879;0.571	B;P;B;D;B;P;B	0.72338	0.123;0.608;0.12;0.977;0.131;0.472;0.281	T	0.74206	-0.3740	10	0.41790	T	0.15	-20.1418	17.7564	0.88450	0.0:1.0:0.0:0.0	.	33;75;75;75;61;75;61	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6	.;.;.;ARMC8_HUMAN;.;.;.	L	61;75;33;75;33;61;33;75;33;61;75;75;75;65	ENSP00000420333:S61L;ENSP00000419413:S75L;ENSP00000417304:S33L;ENSP00000418074:S75L;ENSP00000417699:S33L;ENSP00000351221:S61L;ENSP00000418412:S33L;ENSP00000420706:S75L;ENSP00000417049:S33L;ENSP00000420440:S61L;ENSP00000418405:S75L;ENSP00000420719:S75L;ENSP00000441592:S75L;ENSP00000376778:S65L	ENSP00000351221:S61L	S	+	2	0	ARMC8	139424950	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	7.792000	0.85828	2.802000	0.96397	0.650000	0.86243	TCA		0.383	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		37	11	0	0	0	1	0	37	11				
ARRB1	408	broad.mit.edu	37	11	74985231	74985231	+	Silent	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:74985231C>A	ENST00000420843.2	-	11	898	c.801G>T	c.(799-801)acG>acT	p.T267T	ARRB1_ENST00000360025.3_Silent_p.T267T|ARRB1_ENST00000393505.4_Silent_p.T267T	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	267					activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CCTTGCAGAACGTCGAGCTGG	0.597																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.(799-801)acG>acT		arrestin, beta 1							201.0	179.0	186.0					11																	74985231		2200	4293	6493	SO:0001819	synonymous_variant	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74985231C>A	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.801G>T	11.37:g.74985231C>A						ARRB1_ENST00000393505.4_Silent_p.T267T|ARRB1_ENST00000360025.3_Silent_p.T267T	p.T267T	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN			11	898	-			267					B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Silent	SNP	ENST00000420843.2	37	c.801G>T	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	C	9.084	0.999929	0.19121	.	.	ENSG00000137486	ENST00000532447	.	.	.	4.8	-8.91	0.00778	.	.	.	.	.	T	0.42200	0.1192	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46331	-0.9199	4	.	.	.	-5.9548	4.4084	0.11420	0.0968:0.2329:0.0969:0.5734	.	.	.	.	F	92	.	.	V	-	1	0	ARRB1	74662879	0.000000	0.05858	0.106000	0.21319	0.960000	0.62799	-8.192000	0.00023	-1.821000	0.01213	0.456000	0.33151	GTT		0.597	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		33	239	1	0	2.47316e-13	1	2.90238e-13	33	239				
TREML2	79865	broad.mit.edu	37	6	41165846	41165846	+	Splice_Site	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:41165846C>T	ENST00000483722.1	-	2	562		c.e2+1			NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2						T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCCTGCTCACCTGGAGACAC	0.572																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.e2+1		triggering receptor expressed on myeloid cells-like 2							33.0	33.0	33.0					6																	41165846		2203	4300	6503	SO:0001630	splice_region_variant	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41165846C>T	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.376+1G>A	6.37:g.41165846C>T								NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			2	562	-	Ovarian(28;0.0418)|Colorectal(47;0.196)							Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Splice_Site	SNP	ENST00000483722.1	37		CCDS4853.2	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347241	0.24426	.	.	ENSG00000112195	ENST00000483722	.	.	.	3.83	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9823	0.53127	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TREML2	41273824	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	3.388000	0.52509	2.074000	0.62210	0.563000	0.77884	.		0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807	Intron	16	30	0	0	0	1	0	16	30				
IGF2R	3482	broad.mit.edu	37	6	160468851	160468851	+	Missense_Mutation	SNP	C	C	T	rs146539241		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:160468851C>T	ENST00000356956.1	+	17	2405	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	753					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTACAACTTCCGGTGGTACAC	0.547																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(2257-2259)Cgg>Tgg		insulin-like growth factor 2 receptor		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	97.0	100.0		2257	4.2	1.0	6	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGF2R	NM_000876.2	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	753/2492	160468851	2,13004	2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160468851C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2257C>T	6.37:g.160468851C>T	ENSP00000349437:p.Arg753Trp						p.R753W	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	17	2405	+		Breast(66;0.000777)|Ovarian(120;0.0305)	753					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.2257C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234134	0.79688	2.27E-4	1.16E-4	ENSG00000197081	ENST00000356956	T	0.02197	4.4	5.14	4.18	0.49190	Mannose-6-phosphate receptor, binding (1);	0.225102	0.42420	D	0.000716	T	0.08313	0.0207	M	0.84948	2.725	0.39940	D	0.974391	D	0.89917	1.0	D	0.77557	0.99	T	0.00380	-1.1776	10	0.87932	D	0	-11.437	12.4594	0.55723	0.2959:0.7041:0.0:0.0	.	753	P11717	MPRI_HUMAN	W	753	ENSP00000349437:R753W	ENSP00000349437:R753W	R	+	1	2	IGF2R	160388841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.976000	0.56867	2.407000	0.81776	0.561000	0.74099	CGG		0.547	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		49	109	0	0	0	1	0	49	109				
NSL1	25936	broad.mit.edu	37	1	212964986	212964986	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:212964986G>T	ENST00000366977.3	-	1	138	c.120C>A	c.(118-120)tgC>tgA	p.C40*	TATDN3_ENST00000526641.1_5'Flank|NSL1_ENST00000366978.1_5'Flank|NSL1_ENST00000422588.2_Nonsense_Mutation_p.C40*|TATDN3_ENST00000531963.1_5'Flank|TATDN3_ENST00000530441.1_5'Flank|TATDN3_ENST00000366974.4_5'Flank|NSL1_ENST00000473995.1_5'Flank|TATDN3_ENST00000532324.1_5'Flank|TATDN3_ENST00000526997.1_5'Flank|TATDN3_ENST00000366973.4_5'Flank|NSL1_ENST00000366976.1_Nonsense_Mutation_p.C40*|NSL1_ENST00000366975.6_Nonsense_Mutation_p.C40*	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	40					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GCTTCGAGGTGCAGCGCACCC	0.647																																						ENST00000366977.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(118-120)tgC>tgA		NSL1, MIS12 kinetochore complex component							45.0	51.0	49.0					1																	212964986		2203	4300	6503	SO:0001587	stop_gained	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212964986G>T	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.120C>A	1.37:g.212964986G>T	ENSP00000355944:p.Cys40*					NSL1_ENST00000366975.6_Nonsense_Mutation_p.C40*|NSL1_ENST00000366976.1_Nonsense_Mutation_p.C40*|NSL1_ENST00000422588.2_Nonsense_Mutation_p.C40*	p.C40*	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	1	138	-			40					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Nonsense_Mutation	SNP	ENST00000366977.3	37	c.120C>A	CCDS1509.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265442	0.95399	.	.	ENSG00000117697	ENST00000366977;ENST00000422588;ENST00000366975;ENST00000366976	.	.	.	5.13	4.22	0.49857	.	0.117523	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.462	9.251	0.37555	0.0964:0.0:0.9036:0.0	.	.	.	.	X	40	.	.	C	-	3	2	NSL1	211031609	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	1.445000	0.35079	1.387000	0.46486	0.655000	0.94253	TGC		0.647	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		21	154	1	0	3.51602e-12	1	4.05914e-12	21	154				
XAF1	54739	broad.mit.edu	37	17	6676464	6676464	+	Silent	SNP	A	A	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:6676464A>G	ENST00000361842.3	+	7	1121	c.882A>G	c.(880-882)ggA>ggG	p.G294G	XAF1_ENST00000441631.1_Silent_p.G294G|XAF1_ENST00000346752.4_Silent_p.G275G	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	294					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CATCAAAAGGAAAACAAGTGA	0.353																																						ENST00000361842.3																			0				large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						c.(880-882)ggA>ggG		XIAP associated factor 1							87.0	87.0	87.0					17																	6676464		2203	4300	6503	SO:0001819	synonymous_variant	54739				apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding	g.chr17:6676464A>G	X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.882A>G	17.37:g.6676464A>G						XAF1_ENST00000441631.1_Silent_p.G294G|XAF1_ENST00000346752.4_Silent_p.G275G	p.G294G	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN			7	1121	+			294					A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Silent	SNP	ENST00000361842.3	37	c.882A>G	CCDS11080.1																																																																																				0.353	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	NM_017523		5	19	0	0	0	1	0	5	19				
HS3ST3A1	9955	broad.mit.edu	37	17	13504291	13504291	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:13504291G>A	ENST00000284110.1	-	1	953	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	52					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCCCCACGACGGGGCCGGACA	0.726																																						ENST00000284110.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(154-156)ccC>ccT		heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1							14.0	13.0	13.0					17																	13504291		2146	4222	6368	SO:0001819	synonymous_variant	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13504291G>A	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.156C>T	17.37:g.13504291G>A							p.P52P	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	1	953	-		all_lung(20;0.114)	52					A8K7N2	Silent	SNP	ENST00000284110.1	37	c.156C>T	CCDS11165.1																																																																																				0.726	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		3	4	0	0	0	1	0	3	4				
PKD1L1	168507	broad.mit.edu	37	7	47898380	47898380	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:47898380T>G	ENST00000289672.2	-	27	4303	c.4253A>C	c.(4252-4254)gAg>gCg	p.E1418A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1418	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCGATGAGCTCAAGCCTCAC	0.493																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(4252-4254)gAg>gCg		polycystic kidney disease 1 like 1							123.0	119.0	121.0					7																	47898380		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47898380T>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4253A>C	7.37:g.47898380T>G	ENSP00000289672:p.Glu1418Ala						p.E1418A	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			27	4303	-			1418			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4253A>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.005195	0.35415	.	.	ENSG00000158683	ENST00000289672	T	0.21031	2.03	5.03	5.03	0.67393	Egg jelly receptor, REJ-like (1);	0.483189	0.20274	N	0.095609	T	0.19248	0.0462	L	0.46157	1.445	0.09310	N	1	B	0.17465	0.022	B	0.16289	0.015	T	0.10847	-1.0612	10	0.27785	T	0.31	-22.2872	11.3993	0.49860	0.0:0.0:0.0:1.0	.	1418	Q8TDX9	PK1L1_HUMAN	A	1418	ENSP00000289672:E1418A	ENSP00000289672:E1418A	E	-	2	0	PKD1L1	47864905	0.026000	0.19158	0.007000	0.13788	0.002000	0.02628	3.201000	0.51059	2.013000	0.59113	0.528000	0.53228	GAG		0.493	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		20	94	0	0	0	1	0	20	94				
SRPX2	27286	broad.mit.edu	37	X	99917215	99917215	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:99917215C>T	ENST00000373004.3	+	4	634	c.206C>T	c.(205-207)gCc>gTc	p.A69V		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GATGGAGAAGCCACATGCTAC	0.488																																						ENST00000373004.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(205-207)gCc>gTc		sushi-repeat containing protein, X-linked 2							97.0	81.0	87.0					X																	99917215		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99917215C>T	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.206C>T	X.37:g.99917215C>T	ENSP00000362095:p.Ala69Val						p.A69V	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN			4	634	+			69			Sushi 1.		B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.206C>T	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	7.213	0.595725	0.13875	.	.	ENSG00000102359	ENST00000373004	T	0.26223	1.75	5.07	4.2	0.49525	Complement control module (2);Sushi/SCR/CCP (2);	0.157982	0.56097	N	0.000025	T	0.13713	0.0332	N	0.10972	0.075	0.52099	D	0.999947	B	0.06786	0.001	B	0.15484	0.013	T	0.07462	-1.0771	9	.	.	.	-5.4584	12.8489	0.57846	0.0:0.9185:0.0:0.0815	.	69	O60687	SRPX2_HUMAN	V	69	ENSP00000362095:A69V	.	A	+	2	0	SRPX2	99803871	0.995000	0.38212	0.995000	0.50966	0.994000	0.84299	2.750000	0.47500	1.036000	0.39998	0.523000	0.50628	GCC		0.488	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		13	123	0	0	0	1	0	13	123				
SUSD5	26032	broad.mit.edu	37	3	33216515	33216515	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:33216515C>G	ENST00000309558.3	-	4	878	c.461G>C	c.(460-462)cGc>cCc	p.R154P		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	154	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)	p.R154H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAAGCCGGTGCGGCCCTGCAG	0.567																																						ENST00000309558.3																			1	Substitution - Missense(1)	p.R154H(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(460-462)cGc>cCc		sushi domain containing 5							65.0	71.0	69.0					3																	33216515		2041	4176	6217	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33216515C>G	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.461G>C	3.37:g.33216515C>G	ENSP00000308727:p.Arg154Pro						p.R154P	NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN			4	878	-			154			Sushi.			Missense_Mutation	SNP	ENST00000309558.3	37	c.461G>C	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313702	0.81358	.	.	ENSG00000173705	ENST00000309558	T	0.64618	-0.11	5.72	1.4	0.22301	Complement control module (2);Sushi/SCR/CCP (3);	0.255286	0.39146	N	0.001448	T	0.51466	0.1676	N	0.08118	0	0.34968	D	0.752848	D	0.59767	0.986	P	0.62649	0.905	T	0.57745	-0.7758	10	0.36615	T	0.2	-12.4328	6.3003	0.21109	0.0:0.445:0.0:0.555	.	154	O60279	SUSD5_HUMAN	P	154	ENSP00000308727:R154P	ENSP00000308727:R154P	R	-	2	0	SUSD5	33191519	1.000000	0.71417	0.974000	0.42286	0.941000	0.58515	2.331000	0.43894	0.358000	0.24211	0.561000	0.74099	CGC		0.567	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		40	70	0	0	0	1	0	40	70				
MYOF	26509	broad.mit.edu	37	10	95162632	95162632	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:95162632C>A	ENST00000359263.4	-	10	858	c.859G>T	c.(859-861)Gtt>Ttt	p.V287F	MYOF_ENST00000371501.4_Missense_Mutation_p.V287F|MYOF_ENST00000371489.1_Missense_Mutation_p.V287F|MYOF_ENST00000358334.5_Missense_Mutation_p.V287F|MYOF_ENST00000371502.4_Missense_Mutation_p.V287F	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	287					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						TCATCATAAACAAATCCAACA	0.299																																						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.(859-861)Gtt>Ttt		myoferlin							104.0	90.0	94.0					10																	95162632		1825	4086	5911	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95162632C>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.859G>T	10.37:g.95162632C>A	ENSP00000352208:p.Val287Phe					MYOF_ENST00000359263.4_Missense_Mutation_p.V287F|MYOF_ENST00000358334.5_Missense_Mutation_p.V287F|MYOF_ENST00000371502.4_Missense_Mutation_p.V287F|MYOF_ENST00000371489.1_Missense_Mutation_p.V287F	p.V287F			Q9NZM1	MYOF_HUMAN			10	981	-			287					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.859G>T	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142470	0.57044	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489	D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85	5.73	-0.123	0.13527	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);FerIin domain (1);	0.430216	0.26711	N	0.022881	D	0.87418	0.6172	M	0.75777	2.31	0.28667	N	0.905843	B;B;B	0.32338	0.365;0.232;0.266	B;P;B	0.46452	0.394;0.517;0.401	D	0.83852	0.0263	10	0.87932	D	0	-4.5768	10.3166	0.43740	0.0:0.5037:0.0:0.4963	.	269;287;287	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	F	287	ENSP00000351094:V287F;ENSP00000352208:V287F;ENSP00000360556:V287F;ENSP00000360557:V287F;ENSP00000360544:V287F	ENSP00000351094:V287F	V	-	1	0	MYOF	95152622	0.001000	0.12720	0.667000	0.29798	0.991000	0.79684	-0.073000	0.11468	0.064000	0.16427	0.561000	0.74099	GTT		0.299	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		6	22	1	0	0.00198382	1	0.00208668	6	22				
PEX14	5195	broad.mit.edu	37	1	10689685	10689685	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:10689685C>A	ENST00000356607.4	+	9	855	c.775C>A	c.(775-777)Cac>Aac	p.H259N	PEX14_ENST00000538836.1_Missense_Mutation_p.H195N	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	259					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGAACCACCACAGCAGCAG	0.642																																						ENST00000356607.4																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.(775-777)Cac>Aac		peroxisomal biogenesis factor 14							89.0	73.0	79.0					1																	10689685		2203	4300	6503	SO:0001583	missense	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10689685C>A	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.775C>A	1.37:g.10689685C>A	ENSP00000349016:p.His259Asn					PEX14_ENST00000538836.1_Missense_Mutation_p.H195N	p.H259N	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	9	855	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	259					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	37	c.775C>A	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629498	0.28978	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.26957	1.7;1.7	4.7	3.65	0.41850	.	0.150958	0.56097	D	0.000029	T	0.08492	0.0211	N	0.01576	-0.805	0.47183	D	0.999348	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.21518	-1.0243	10	0.15952	T	0.53	-11.4727	10.1977	0.43065	0.4455:0.5545:0.0:0.0	.	216;259	O75381-2;O75381	.;PEX14_HUMAN	N	259;195	ENSP00000349016:H259N;ENSP00000444877:H195N	ENSP00000349016:H259N	H	+	1	0	PEX14	10612272	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.083000	0.71326	2.319000	0.78375	0.563000	0.77884	CAC		0.642	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			55	45	1	0	2.29192e-23	1	2.88011e-23	55	45				
FCHSD1	89848	broad.mit.edu	37	5	141023864	141023864	+	Missense_Mutation	SNP	C	C	T	rs140791780	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr5:141023864C>T	ENST00000435817.2	-	17	1834	c.1784G>A	c.(1783-1785)cGt>cAt	p.R595H	FCHSD1_ENST00000522783.1_Missense_Mutation_p.R521H|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522126.1_3'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	595	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCCCAACACGGCCCCCAAA	0.632													C|||	43	0.00858626	0.0318	0.0014	5008	,	,		15518	0.0		0.0	False		,,,				2504	0.0					ENST00000435817.2																		FCHSD1/BRAF(2)	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1783-1785)cGt>cAt		FCH and double SH3 domains 1		C	HIS/ARG	99,3639		1,97,1771	33.0	39.0	37.0		1784	-0.2	0.9	5	dbSNP_134	37	0,8194		0,0,4097	yes	missense	FCHSD1	NM_033449.2	29	1,97,5868	TT,TC,CC		0.0,2.6485,0.8297	benign	595/691	141023864	99,11833	1869	4097	5966	SO:0001583	missense	89848							g.chr5:141023864C>T	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1784G>A	5.37:g.141023864C>T	ENSP00000399259:p.Arg595His					FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.R521H|FCHSD1_ENST00000522126.1_3'UTR	p.R595H	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	1834	-			595			SH3 2.		Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	c.1784G>A	CCDS47295.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	1.301	-0.604956	0.03717	0.026485	0.0	ENSG00000197948	ENST00000435817;ENST00000522783	T;T	0.53423	0.62;0.62	5.44	-0.215	0.13157	Src homology-3 domain (3);Variant SH3 (1);	0.415939	0.24056	N	0.041941	T	0.10981	0.0268	L	0.28274	0.84	0.31086	N	0.71138	B;B	0.14805	0.011;0.006	B;B	0.13407	0.002;0.009	T	0.26052	-1.0114	10	0.09843	T	0.71	-6.1209	12.0244	0.53362	0.0:0.5784:0.0:0.4216	.	275;595	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	H	595;521	ENSP00000399259:R595H;ENSP00000428677:R521H	ENSP00000399259:R595H	R	-	2	0	FCHSD1	141004048	0.000000	0.05858	0.950000	0.38849	0.126000	0.20510	-0.094000	0.11094	-0.304000	0.08843	-1.851000	0.00568	CGT		0.632	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		3	14	0	0	0	1	0	3	14				
MT-ND4	4538	broad.mit.edu	37	M	11652	11652	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrM:11652T>A	ENST00000361381.2	+	1	893	c.893T>A	c.(892-894)gTa>gAa	p.V298E	MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TG_ENST00000387429.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	298					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						AGCCCTCGTAGTAACAGCCAT	0.463																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(892-894)gTa>gAa		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:11652T>A			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.893T>A	M.37:g.11652T>A	ENSP00000354961:p.Val298Glu						p.298_298insE							1	893	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.893T>A																																																																																					0.463	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		16	166	0	0	0	1	0	16	166				
EXOC6	54536	broad.mit.edu	37	10	94688101	94688101	+	Missense_Mutation	SNP	C	C	G	rs75784691	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:94688101C>G	ENST00000260762.6	+	9	908	c.894C>G	c.(892-894)gaC>gaG	p.D298E	EXOC6_ENST00000371552.4_Missense_Mutation_p.D293E|EXOC6_ENST00000371547.4_Missense_Mutation_p.D314E|EXOC6_ENST00000443748.2_Missense_Mutation_p.D275E	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	298					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTTAGGGTGACGAGGAAACAT	0.333																																						ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(877-879)gaC>gaG		exocyst complex component 6							88.0	91.0	90.0					10																	94688101		2203	4299	6502	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94688101C>G	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.894C>G	10.37:g.94688101C>G	ENSP00000260762:p.Asp298Glu					EXOC6_ENST00000443748.2_Missense_Mutation_p.D275E|EXOC6_ENST00000371547.4_Missense_Mutation_p.D314E|EXOC6_ENST00000260762.6_Missense_Mutation_p.D298E	p.D293E	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN			9	908	+		Colorectal(252;0.123)	298					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.879C>G	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	c	2.099	-0.406446	0.04832	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.30714	1.61;1.61;1.52;1.61	5.42	3.08	0.35506	.	0.139303	0.64402	D	0.000006	T	0.17280	0.0415	L	0.28694	0.88	0.19945	N	0.999943	B;B;B;B;B	0.33940	0.065;0.433;0.006;0.006;0.006	B;B;B;B;B	0.32090	0.069;0.14;0.006;0.006;0.006	T	0.29761	-1.0001	10	0.02654	T	1	-7.8934	10.5907	0.45308	0.0:0.1513:0.0:0.8487	.	314;275;290;298;293	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	E	314;293;275;298	ENSP00000360602:D314E;ENSP00000360607:D293E;ENSP00000396206:D275E;ENSP00000260762:D298E	ENSP00000260762:D298E	D	+	3	2	EXOC6	94678081	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	1.911000	0.39937	0.059000	0.16252	-1.048000	0.02349	GAC		0.333	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		17	43	0	0	0	1	0	17	43				
NRXN1	9378	broad.mit.edu	37	2	50765622	50765622	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:50765622A>C	ENST00000406316.2	-	10	3388	c.1912T>G	c.(1912-1914)Tat>Gat	p.Y638D	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.Y638D|NRXN1_ENST00000402717.3_Missense_Mutation_p.Y630D|NRXN1_ENST00000406859.3_Missense_Mutation_p.Y638D|NRXN1_ENST00000404971.1_Missense_Mutation_p.Y678D|NRXN1_ENST00000405472.3_Missense_Mutation_p.Y630D	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	638	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACGTAGCCATAGTTGAGCAGA	0.517																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2032-2034)Tat>Gat		neurexin 1							159.0	171.0	167.0					2																	50765622		2200	4300	6500	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765622A>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1912T>G	2.37:g.50765622A>C	ENSP00000384311:p.Tyr638Asp					NRXN1_ENST00000402717.3_Missense_Mutation_p.Y630D|NRXN1_ENST00000401669.2_Missense_Mutation_p.Y638D|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.Y638D|NRXN1_ENST00000405472.3_Missense_Mutation_p.Y630D|NRXN1_ENST00000406316.2_Missense_Mutation_p.Y638D	p.Y678D	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3371	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	638			EGF-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2032T>G	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242412	0.58995	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.80874	0.4707	L	0.34521	1.04	0.38725	D	0.953522	D;D;D	0.69078	0.995;0.997;0.992	D;P;D	0.69654	0.965;0.901;0.917	T	0.79813	-0.1645	10	0.26408	T	0.33	.	15.1659	0.72825	1.0:0.0:0.0:0.0	.	678;638;630	Q9ULB1-3;F8WB18;A7E294	.;.;.	D	678;638;630;638;679;630;638	ENSP00000385142:Y678D;ENSP00000384311:Y638D;ENSP00000434015:Y630D;ENSP00000385017:Y638D;ENSP00000385434:Y630D;ENSP00000385681:Y638D	ENSP00000385017:Y638D	Y	-	1	0	NRXN1	50619126	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.136000	0.77285	2.166000	0.68216	0.477000	0.44152	TAT		0.517	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			79	154	0	0	0	1	0	79	154				
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C	rs551210093		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398																																						ENST00000558896.1																			0																																																			0							g.chr15:22332570T>C																													15.37:g.22332570T>C														0	377	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.398	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			4	136	0	0	0	1	0	4	136				
NPAP1	23742	broad.mit.edu	37	15	24922694	24922694	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:24922694C>T	ENST00000329468.2	+	1	2154	c.1680C>T	c.(1678-1680)aaC>aaT	p.N560N		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	560					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCACAACAAACGCATCTGCCC	0.473																																						ENST00000329468.2																			0											c.(1678-1680)aaC>aaT		nuclear pore associated protein 1							159.0	147.0	151.0					15																	24922694		2203	4300	6503	SO:0001819	synonymous_variant	23742							g.chr15:24922694C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1680C>T	15.37:g.24922694C>T							p.N560N	NM_018958.2	NP_061831.2					1	2154	+									Silent	SNP	ENST00000329468.2	37	c.1680C>T	CCDS10015.1																																																																																				0.473	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		44	73	0	0	0	1	0	44	73				
GIT2	9815	broad.mit.edu	37	12	110397663	110397663	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:110397663G>A	ENST00000355312.3	-	12	1087	c.1088C>T	c.(1087-1089)tCg>tTg	p.S363L	GIT2_ENST00000343646.5_Intron|GIT2_ENST00000360185.4_Missense_Mutation_p.S363L|GIT2_ENST00000320063.9_Missense_Mutation_p.S363L|GIT2_ENST00000457474.2_Missense_Mutation_p.S365L|GIT2_ENST00000553118.1_Missense_Mutation_p.S363L|GIT2_ENST00000338373.5_Missense_Mutation_p.S363L|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S362L|GIT2_ENST00000361006.5_Missense_Mutation_p.S363L|GIT2_ENST00000356259.4_Missense_Mutation_p.S363L|GIT2_ENST00000354574.4_Missense_Mutation_p.S365L|GIT2_ENST00000547815.1_Missense_Mutation_p.S363L	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	363					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TTTTGAACCCGAGAGAGAACT	0.453																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(1087-1089)tCg>tTg		G protein-coupled receptor kinase interacting ArfGAP 2							78.0	72.0	74.0					12																	110397663		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110397663G>A	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1088C>T	12.37:g.110397663G>A	ENSP00000347464:p.Ser363Leu					GIT2_ENST00000547815.1_Missense_Mutation_p.S363L|GIT2_ENST00000553118.1_Missense_Mutation_p.S363L|GIT2_ENST00000355312.3_Missense_Mutation_p.S363L|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S362L|GIT2_ENST00000356259.4_Missense_Mutation_p.S363L|GIT2_ENST00000354574.4_Missense_Mutation_p.S365L|GIT2_ENST00000338373.5_Missense_Mutation_p.S363L|GIT2_ENST00000320063.9_Missense_Mutation_p.S363L|GIT2_ENST00000457474.2_Missense_Mutation_p.S365L|GIT2_ENST00000361006.5_Missense_Mutation_p.S363L|GIT2_ENST00000343646.5_Intron	p.S363L			Q14161	GIT2_HUMAN			12	1252	-			363					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.1088C>T	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132924	0.37630	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000542273;ENST00000547815;ENST00000320063	T;T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.64;-0.6;-0.6;-0.6;-0.58;-0.69;-0.68;-0.68;-0.62;-0.63	5.4	3.51	0.40186	.	0.401414	0.30890	N	0.008662	T	0.50292	0.1607	N	0.14661	0.345	0.29947	N	0.820545	B;B;B;B;B;B;B	0.10296	0.0;0.0;0.003;0.003;0.001;0.0;0.0	B;B;B;B;B;B;B	0.08055	0.0;0.0;0.001;0.001;0.003;0.001;0.001	T	0.46665	-0.9175	10	0.30854	T	0.27	.	9.9854	0.41839	0.0758:0.1404:0.7837:0.0	.	363;363;365;365;363;363;363	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	L	363;363;365;363;363;365;363;363;362;301;363;363	ENSP00000347464:S363L;ENSP00000353312:S363L;ENSP00000346585:S365L;ENSP00000340342:S363L;ENSP00000348595:S363L;ENSP00000391813:S365L;ENSP00000354282:S363L;ENSP00000447465:S363L;ENSP00000448832:S362L;ENSP00000450348:S363L;ENSP00000323833:S363L	ENSP00000323833:S363L	S	-	2	0	GIT2	108882046	0.831000	0.29352	0.983000	0.44433	0.970000	0.65996	2.008000	0.40893	1.373000	0.46208	0.585000	0.79938	TCG		0.453	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		5	32	0	0	0	1	0	5	32				
LTBP4	8425	broad.mit.edu	37	19	41111336	41111336	+	Missense_Mutation	SNP	C	C	G	rs370039703		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:41111336C>G	ENST00000308370.7	+	6	669	c.669C>G	c.(667-669)caC>caG	p.H223Q	LTBP4_ENST00000204005.9_Missense_Mutation_p.H186Q|RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000396819.3_Missense_Mutation_p.H156Q|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	223					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGCGTCCACGTGGAGCACC	0.692																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(667-669)caC>caG		latent transforming growth factor beta binding protein 4							23.0	26.0	25.0					19																	41111336		1981	4094	6075	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41111336C>G	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.669C>G	19.37:g.41111336C>G	ENSP00000311905:p.His223Gln					LTBP4_ENST00000204005.9_Missense_Mutation_p.H186Q|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.H156Q	p.H223Q	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		6	669	+			223					O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.669C>G		.	.	.	.	.	.	.	.	.	.	C	19.60	3.857515	0.71834	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	D;D;T	0.81908	-1.52;-1.55;-1.49	3.97	-0.726	0.11170	.	0.000000	0.39475	N	0.001344	D	0.83362	0.5238	L	0.58101	1.795	0.80722	D	1	D;D;D	0.61697	0.99;0.99;0.99	P;P;P	0.58266	0.698;0.836;0.771	T	0.79325	-0.1850	10	0.45353	T	0.12	.	7.3161	0.26501	0.0:0.474:0.0:0.526	.	156;223;186	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	Q	186;223;156	ENSP00000204005:H186Q;ENSP00000311905:H223Q;ENSP00000380031:H156Q	ENSP00000204005:H186Q	H	+	3	2	LTBP4	45803176	0.988000	0.35896	0.999000	0.59377	0.996000	0.88848	0.081000	0.14823	0.036000	0.15547	0.561000	0.74099	CAC		0.692	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		13	51	0	0	0	1	0	13	51				
ZNF749	388567	broad.mit.edu	37	19	57956698	57956698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:57956698G>T	ENST00000334181.4	+	3	2432	c.2182G>T	c.(2182-2184)Gaa>Taa	p.E728*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	728					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(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAAGTTAAGGGAATGTGGGAA	0.403																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(2182-2184)Gaa>Taa		zinc finger protein 749							104.0	105.0	105.0					19																	57956698		2203	4300	6503	SO:0001587	stop_gained	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956698G>T	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2182G>T	19.37:g.57956698G>T	ENSP00000333980:p.Glu728*					AC004076.9_ENST00000596831.1_Intron	p.E728*	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2432	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	728						Nonsense_Mutation	SNP	ENST00000334181.4	37	c.2182G>T	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	G	37	6.459382	0.97585	.	.	ENSG00000186230	ENST00000334181	.	.	.	1.39	0.106	0.14540	.	.	.	.	.	.	.	.	.	.	.	0.51767	D	0.999932	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	6.1938	0.20538	0.22:0.0:0.78:0.0	.	.	.	.	X	728	.	ENSP00000333980:E728X	E	+	1	0	ZNF749	62648510	0.000000	0.05858	0.002000	0.10522	0.661000	0.39034	-0.369000	0.07533	0.042000	0.15717	0.306000	0.20318	GAA		0.403	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		23	62	1	0	2.39556e-15	1	2.85857e-15	23	62				
FAM83G	644815	broad.mit.edu	37	17	18881910	18881910	+	Missense_Mutation	SNP	C	C	A	rs199697114		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:18881910C>A	ENST00000388995.6	-	5	1292	c.1069G>T	c.(1069-1071)Gtc>Ttc	p.V357F	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V357F|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V357F			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	357					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ATCTCGTCGACGCTCTTGGCC	0.627																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1069-1071)Gtc>Ttc		family with sequence similarity 83, member G							68.0	76.0	73.0					17																	18881910		2000	4157	6157	SO:0001583	missense	644815							g.chr17:18881910C>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1069G>T	17.37:g.18881910C>A	ENSP00000373647:p.Val357Phe					SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V357F|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V357F|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron	p.V357F			A6ND36	FA83G_HUMAN			5	1292	-			357					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1069G>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	7.984	0.751740	0.15778	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.12361	2.69;2.69	5.39	5.39	0.77823	.	0.260739	0.32055	N	0.006659	T	0.10895	0.0266	N	0.22421	0.69	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.23261	-1.0193	10	0.12430	T	0.62	-3.9157	19.1516	0.93491	0.0:1.0:0.0:0.0	.	357	A6ND36	FA83G_HUMAN	F	357	ENSP00000373647:V357F;ENSP00000343279:V357F	ENSP00000343279:V357F	V	-	1	0	FAM83G	18822635	0.571000	0.26659	0.018000	0.16275	0.078000	0.17371	3.179000	0.50887	2.537000	0.85549	0.491000	0.48974	GTC		0.627	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			34	58	1	0	6.00712e-18	1	7.2907e-18	34	58				
MUC17	140453	broad.mit.edu	37	7	100682628	100682628	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:100682628C>T	ENST00000306151.4	+	3	7995	c.7931C>T	c.(7930-7932)cCa>cTa	p.P2644L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2644	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)					AGCACCATGCCAGTGGCCAGT	0.463																																						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.(7930-7932)cCa>cTa		mucin 17, cell surface associated							250.0	253.0	252.0					7																	100682628		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682628C>T	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.7931C>T	7.37:g.100682628C>T	ENSP00000302716:p.Pro2644Leu						p.P2644L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	7995	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2644			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7931C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	7.364	0.625399	0.14257	.	.	ENSG00000169876	ENST00000306151	T	0.01918	4.56	0.37	0.37	0.16160	.	.	.	.	.	T	0.04137	0.0115	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	P	0.62885	0.908	T	0.49661	-0.8916	9	0.23891	T	0.37	.	6.6184	0.22790	0.0:0.9998:0.0:2.0E-4	.	2644	Q685J3	MUC17_HUMAN	L	2644	ENSP00000302716:P2644L	ENSP00000302716:P2644L	P	+	2	0	MUC17	100469348	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.321000	0.19558	0.469000	0.27268	0.134000	0.15878	CCA		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		133	523	0	0	0	1	0	133	523				
RGAG4	340526	broad.mit.edu	37	X	71350291	71350291	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:71350291C>A	ENST00000545866.1	-	1	1467	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R367M	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	367										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CTGAAAAGCCCTCATGCGCTT	0.488																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(1099-1101)aGg>aTg		retrotransposon gag domain containing 4							44.0	37.0	39.0					X																	71350291		2008	4162	6170	SO:0001583	missense	340526							g.chrX:71350291C>A	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1100G>T	X.37:g.71350291C>A	ENSP00000441366:p.Arg367Met					NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.R367M	p.R367M			Q5HYW3	RGAG4_HUMAN			1	1467	-	Renal(35;0.156)		367					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.1100G>T	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261320	0.39995	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.15952	2.38;2.38	4.13	1.3	0.21679	.	.	.	.	.	T	0.11452	0.0279	N	0.24115	0.695	0.09310	N	1	D	0.55172	0.97	B	0.44044	0.439	T	0.20806	-1.0264	8	.	.	.	-0.8425	6.8825	0.24181	0.0:0.5677:0.3302:0.1021	.	367	Q5HYW3	RGAG4_HUMAN	M	367	ENSP00000441366:R367M;ENSP00000418667:R367M	.	R	-	2	0	RGAG4	71267016	0.000000	0.05858	0.000000	0.03702	0.399000	0.30720	0.305000	0.19254	0.133000	0.18654	0.600000	0.82982	AGG		0.488	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		7	21	1	0	0.0293803	1	0.0300144	7	21				
PROCR	10544	broad.mit.edu	37	20	33764024	33764024	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr20:33764024A>G	ENST00000216968.4	+	3	458	c.376A>G	c.(376-378)Aga>Gga	p.R126G	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	126					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CGAGGGCTCTAGAGCCCATGT	0.607																																						ENST00000216968.4																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(376-378)Aga>Gga		protein C receptor, endothelial	Drotrecogin alfa(DB00055)						80.0	82.0	81.0					20																	33764024		2203	4300	6503	SO:0001583	missense	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33764024A>G	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.376A>G	20.37:g.33764024A>G	ENSP00000216968:p.Arg126Gly					EDEM2_ENST00000540582.1_Intron	p.R126G	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		3	458	+			126					B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	c.376A>G	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.421684	0.25639	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	T	0.00705	5.81	5.61	-2.64	0.06114	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.596660	0.03253	N	0.182147	T	0.00998	0.0033	L	0.51422	1.61	0.09310	N	1	B	0.24576	0.106	B	0.24155	0.051	T	0.48399	-0.9039	10	0.25751	T	0.34	-5.112	5.768	0.18237	0.2714:0.3107:0.4179:0.0	.	126	Q9UNN8	EPCR_HUMAN	G	126	ENSP00000216968:R126G	ENSP00000216968:R126G	R	+	1	2	PROCR	33227685	0.000000	0.05858	0.000000	0.03702	0.918000	0.54935	0.331000	0.19733	-0.410000	0.07542	0.459000	0.35465	AGA		0.607	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			33	98	0	0	0	1	0	33	98				
CCR3	1232	broad.mit.edu	37	3	46306665	46306665	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:46306665G>C	ENST00000357422.2	+	4	559	c.16G>C	c.(16-18)Gat>Cat	p.D6H	CCR3_ENST00000545097.1_Missense_Mutation_p.D27H|CCR3_ENST00000395942.2_Missense_Mutation_p.D6H|CCR3_ENST00000395940.2_Missense_Mutation_p.D6H|CCR3_ENST00000541018.1_Missense_Mutation_p.D6H			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	6					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AACCTCACTAGATACAGTTGA	0.438																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(16-18)Gat>Cat		chemokine (C-C motif) receptor 3							103.0	99.0	100.0					3																	46306665		2203	4300	6503	SO:0001583	missense	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46306665G>C	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.16G>C	3.37:g.46306665G>C	ENSP00000350003:p.Asp6His					CCR3_ENST00000395940.2_Missense_Mutation_p.D6H|CCR3_ENST00000541018.1_Missense_Mutation_p.D6H|CCR3_ENST00000395942.2_Missense_Mutation_p.D6H|CCR3_ENST00000545097.1_Missense_Mutation_p.D27H	p.D6H			P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	559	+			6					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	c.16G>C	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732678	0.30684	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000452454;ENST00000457243;ENST00000395942	T;T;T;T;T;T;T	0.77620	-0.33;-0.36;-0.33;-0.33;2.48;-1.11;-0.33	5.52	-0.95	0.10372	.	7739.210000	0.00166	N	0.000000	T	0.56307	0.1976	N	0.08118	0	0.09310	N	1	B;P;P;B	0.47302	0.129;0.893;0.603;0.257	B;B;B;B	0.39027	0.044;0.288;0.109;0.031	T	0.53549	-0.8423	10	0.66056	D	0.02	.	1.9528	0.03370	0.2632:0.217:0.4084:0.1114	.	6;6;27;6	Q8TDP5;Q8TDP6;F5GWL6;P51677	.;.;.;CCR3_HUMAN	H	6;27;6;6;6;6;6	ENSP00000350003:D6H;ENSP00000441600:D27H;ENSP00000440097:D6H;ENSP00000379271:D6H;ENSP00000389336:D6H;ENSP00000401822:D6H;ENSP00000379273:D6H	ENSP00000350003:D6H	D	+	1	0	CCR3	46281669	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.285000	0.08410	-0.542000	0.06249	0.563000	0.77884	GAT		0.438	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			8	47	0	0	0	1	0	8	47				
TPSB2	64499	broad.mit.edu	37	16	1278514	1278514	+	RNA	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr16:1278514G>A	ENST00000339687.6	-	0	848				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				AGAGCAGGGGGCTTAGGACAG	0.662																																						ENST00000430512.2																			0				lung(1)|upper_aerodigestive_tract(1)	2								tryptase beta 2 (gene/pseudogene)																																						64499				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1278514G>A	AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"""tryptase beta II"", ""tryptase beta III"""	191081	"""tryptase beta 2"""			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1278514G>A						TPSB2_ENST00000339687.6_RNA		NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN			0	1012	-		Hepatocellular(780;0.00369)						D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	RNA	SNP	ENST00000339687.6	37																																																																																						0.662	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164		4	10	0	0	0	1	0	4	10				
MAN2A1	4124	broad.mit.edu	37	5	109117242	109117242	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr5:109117242A>G	ENST00000261483.4	+	9	2572	c.1520A>G	c.(1519-1521)tAt>tGt	p.Y507C		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	507					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGGAGTGGCTATTTTACATCC	0.373																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1519-1521)tAt>tGt		mannosidase, alpha, class 2A, member 1							118.0	116.0	117.0					5																	109117242		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109117242A>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1520A>G	5.37:g.109117242A>G	ENSP00000261483:p.Tyr507Cys						p.Y507C	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	9	2572	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	507					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.1520A>G	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660858	0.88154	.	.	ENSG00000112893	ENST00000261483	D	0.84442	-1.85	6.06	6.06	0.98353	Glycoside hydrolase, family 38, central domain (2);	0.000000	0.85682	D	0.000000	D	0.95743	0.8615	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97458	1.0032	10	0.87932	D	0	-14.5273	16.6245	0.84952	1.0:0.0:0.0:0.0	.	507	Q16706	MA2A1_HUMAN	C	507	ENSP00000261483:Y507C	ENSP00000261483:Y507C	Y	+	2	0	MAN2A1	109145141	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.932000	0.92897	2.323000	0.78572	0.528000	0.53228	TAT		0.373	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			14	25	0	0	0	1	0	14	25				
PPRC1	23082	broad.mit.edu	37	10	103901271	103901271	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:103901271G>A	ENST00000278070.2	+	5	3045	c.3006G>A	c.(3004-3006)ttG>ttA	p.L1002L	PPRC1_ENST00000413464.2_Silent_p.L1002L|PPRC1_ENST00000370012.1_5'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1002	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CACCTCCTTTGCCTCCAGCCT	0.562																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3004-3006)ttG>ttA		peroxisome proliferator-activated receptor gamma, coactivator-related 1							49.0	50.0	50.0					10																	103901271		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103901271G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3006G>A	10.37:g.103901271G>A						PPRC1_ENST00000370012.1_5'UTR|PPRC1_ENST00000413464.2_Silent_p.L1002L	p.L1002L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	3045	+		Colorectal(252;0.122)	1002			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.3006G>A	CCDS7529.1																																																																																				0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		7	73	0	0	0	1	0	7	73				
SLC18A2	6571	broad.mit.edu	37	10	119003729	119003729	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:119003729C>T	ENST00000298472.5	+	3	512	c.369C>T	c.(367-369)gaC>gaT	p.D123D	SLC18A2_ENST00000497497.1_3'UTR|RP11-501J20.5_ENST00000425264.1_RNA	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	123					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AAGACAAAGACCTCCTGAATG	0.527																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(367-369)gaC>gaT		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						94.0	82.0	86.0					10																	119003729		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003729C>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.369C>T	10.37:g.119003729C>T						SLC18A2_ENST00000497497.1_3'UTR	p.D123D	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	3	512	+		Colorectal(252;0.19)	123					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.369C>T	CCDS7599.1																																																																																				0.527	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		21	85	0	0	0	1	0	21	85				
NTN5	126147	broad.mit.edu	37	19	49174007	49174007	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:49174007G>A	ENST00000270235.4	-	2	332	c.237C>T	c.(235-237)agC>agT	p.S79S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	79						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						AGAAGCGCAAGCTGACAGATG	0.667																																						ENST00000270235.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						c.(235-237)agC>agT		netrin 5							24.0	27.0	26.0					19																	49174007		2203	4299	6502	SO:0001819	synonymous_variant	126147					extracellular region		g.chr19:49174007G>A		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.237C>T	19.37:g.49174007G>A						SEC1P_ENST00000430145.2_RNA	p.S79S	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN			2	332	-			79					Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	c.237C>T	CCDS33068.1																																																																																				0.667	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		33	20	0	0	0	1	0	33	20				
SPTA1	6708	broad.mit.edu	37	1	158581178	158581178	+	Splice_Site	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:158581178G>T	ENST00000368147.4	-	52	7316	c.7136C>A	c.(7135-7137)gCc>gAc	p.A2379D	SPTA1_ENST00000485680.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2379	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGGGTAAGGGCCTGAAAAGT	0.458																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.e52-1		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							79.0	77.0	78.0					1																	158581178		1893	4098	5991	SO:0001630	splice_region_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158581178G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.7135-1C>A	1.37:g.158581178G>T						SPTA1_ENST00000368147.3_Splice_Site_p.A2376_splice	p.A2379_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			52	7316	-	all_hematologic(112;0.0378)		2379			EF-hand 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	c.7134_splice	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000794	0.54254	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.25579	1.79;1.79	5.55	4.57	0.56435	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.32120	N	0.006555	T	0.28366	0.0701	L	0.59436	1.845	0.35053	D	0.760867	P	0.51653	0.947	P	0.58331	0.837	T	0.04115	-1.0976	10	0.56958	D	0.05	.	8.8986	0.35481	0.0:0.1602:0.674:0.1658	.	2379	P02549	SPTA1_HUMAN	D	2379;2376	ENSP00000357130:A2379D;ENSP00000357129:A2376D	ENSP00000357129:A2376D	A	-	2	0	SPTA1	156847802	1.000000	0.71417	0.997000	0.53966	0.602000	0.36980	2.735000	0.47377	2.767000	0.95098	0.563000	0.77884	GCC		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Missense_Mutation	11	94	1	0	5.50884e-06	1	5.97141e-06	11	94				
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr16:90162462A>G	ENST00000564451.1	+	0	1815				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522																																						ENST00000567960.1																			1	Substitution - coding silent(1)	p.T398T(1)	kidney(1)																																																0							g.chr16:90162462A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162462A>G						TUBB8P7_ENST00000564451.1_RNA								0	1198	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	86	0	0	0	1	0	5	86				
PIP4K2A	5305	broad.mit.edu	37	10	23003128	23003128	+	Missense_Mutation	SNP	C	C	A	rs184663145		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:23003128C>A	ENST00000376573.4	-	1	356	c.128G>T	c.(127-129)tGg>tTg	p.W43L	PIP4K2A_ENST00000545335.1_5'Flank	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	43	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GTTTACCCCCCACATGAGGAC	0.627																																						ENST00000376573.4																			0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(127-129)tGg>tTg		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha							64.0	58.0	60.0					10																	23003128		2203	4300	6503	SO:0001583	missense	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:23003128C>A	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.128G>T	10.37:g.23003128C>A	ENSP00000365757:p.Trp43Leu						p.W43L	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			1	356	-			43			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	c.128G>T	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	c	18.06	3.540055	0.65085	.	.	ENSG00000150867	ENST00000376573;ENST00000376565	T	0.24350	1.86	3.86	3.86	0.44501	Phosphatidylinositol-4-phosphate 5-kinase, core (1);	0.289166	0.29822	U	0.011102	T	0.18676	0.0448	L	0.33093	0.98	0.80722	D	1	B	0.33807	0.426	B	0.36567	0.228	T	0.02184	-1.1199	10	0.02654	T	1	.	14.8636	0.70399	0.0:1.0:0.0:0.0	.	43	P48426	PI42A_HUMAN	L	43;2	ENSP00000365757:W43L	ENSP00000365749:W2L	W	-	2	0	PIP4K2A	23043134	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.579000	0.74036	2.030000	0.59900	0.274000	0.19336	TGG		0.627	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		19	31	1	0	1.96292e-10	1	2.21218e-10	19	31				
HNRNPM	4670	broad.mit.edu	37	19	8555562	8555562	+	IGR	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:8555562G>A	ENST00000325495.4	+	0	2494				PRAM1_ENST00000423345.4_Missense_Mutation_p.L608F|PRAM1_ENST00000255612.3_Missense_Mutation_p.L607F	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CGGATCCCGAGGTGCTTGCCA	0.617																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(1822-1824)Ctc>Ttc		PML-RARA regulated adaptor molecule 1							16.0	19.0	18.0					19																	8555562		2053	4175	6228	SO:0001628	intergenic_variant	84106						lipid binding|protein binding	g.chr19:8555562G>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383		19.37:g.8555562G>A						PRAM1_ENST00000255612.3_Missense_Mutation_p.L607F	p.L608F			Q96QH2	PRAM_HUMAN			7	2342	-			656					Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1822C>T	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018702	0.54576	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.59364	0.27;0.29	5.18	4.13	0.48395	Src homology-3 domain (2);	0.000000	0.31922	N	0.006853	T	0.69369	0.3103	L	0.57536	1.79	0.42318	D	0.992248	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71642	-0.4531	10	0.87932	D	0	.	10.196	0.43054	0.0976:0.0:0.9024:0.0	.	608;656	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	F	607;608	ENSP00000255612:L607F;ENSP00000408342:L608F	ENSP00000255612:L607F	L	-	1	0	PRAM1	8461562	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	2.055000	0.41345	2.573000	0.86826	0.462000	0.41574	CTC		0.617	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			3	21	0	0	0	1	0	3	21				
CACNA1H	8912	broad.mit.edu	37	16	1251811	1251811	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr16:1251811G>A	ENST00000348261.5	+	9	1609	c.1361G>A	c.(1360-1362)gGc>gAc	p.G454D	CACNA1H_ENST00000565831.1_Missense_Mutation_p.G454D|CACNA1H_ENST00000358590.4_Missense_Mutation_p.G454D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	454					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TCCGAGCCTGGCAGCTGCTAC	0.657																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(1360-1362)gGc>gAc		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						18.0	22.0	21.0					16																	1251811		2148	4243	6391	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1251811G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1361G>A	16.37:g.1251811G>A	ENSP00000334198:p.Gly454Asp					CACNA1H_ENST00000358590.4_Missense_Mutation_p.G454D|CACNA1H_ENST00000565831.1_Missense_Mutation_p.G454D	p.G454D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			9	1609	+		Hepatocellular(780;0.00369)	454					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.1361G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485058	0.84854	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97279	-4.32;-4.28	3.86	3.86	0.44501	.	0.480628	0.22244	N	0.062659	D	0.98223	0.9412	M	0.80183	2.485	0.42803	D	0.993939	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98917	1.0782	10	0.54805	T	0.06	.	14.9564	0.71116	0.0:0.0:1.0:0.0	.	454;454	O95180-2;O95180	.;CAC1H_HUMAN	D	454	ENSP00000334198:G454D;ENSP00000351401:G454D	ENSP00000334198:G454D	G	+	2	0	CACNA1H	1191812	1.000000	0.71417	0.992000	0.48379	0.921000	0.55340	7.382000	0.79729	1.989000	0.58080	0.549000	0.68633	GGC		0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		12	0	0	0	0	1	0	12	0				
ASTN2	23245	broad.mit.edu	37	9	119582946	119582946	+	Silent	SNP	C	C	T	rs369400081		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:119582946C>T	ENST00000313400.4	-	12	2257	c.2157G>A	c.(2155-2157)acG>acA	p.T719T	ASTN2_ENST00000373996.3_Silent_p.T715T|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.T668T			O75129	ASTN2_HUMAN	astrotactin 2	719	EGF-like 3.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.T668T(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCAGGGGCAGCGTCTGCTGCA	0.577																																						ENST00000313400.4																			1	Substitution - coding silent(1)	p.T668T(1)	large_intestine(1)	breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(2155-2157)acG>acA		astrotactin 2		C		0,4406		0,0,2203	102.0	93.0	96.0		2004	-10.7	0.3	9		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ASTN2	NM_014010.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		668/1289	119582946	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119582946C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2157G>A	9.37:g.119582946C>T						ASTN2_ENST00000361209.2_Silent_p.T668T|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.T715T	p.T719T			O75129	ASTN2_HUMAN			12	2257	-			719			EGF-like 3.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.2157G>A																																																																																					0.577	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		115	11	0	0	0	1	0	115	11				
PGAP1	80055	broad.mit.edu	37	2	197707534	197707534	+	Silent	SNP	A	A	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:197707534A>C	ENST00000354764.4	-	26	2655	c.2541T>G	c.(2539-2541)ctT>ctG	p.L847L		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	847					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GATCAGGATTAAGTTTAAAAT	0.279																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(2539-2541)ctT>ctG		post-GPI attachment to proteins 1							57.0	66.0	63.0					2																	197707534		2199	4288	6487	SO:0001819	synonymous_variant	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197707534A>C		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2541T>G	2.37:g.197707534A>C							p.L847L	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			26	2655	-			847					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	ENST00000354764.4	37	c.2541T>G	CCDS2318.1																																																																																				0.279	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		34	18	0	0	0	1	0	34	18				
EYS	346007	broad.mit.edu	37	6	66204707	66204707	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:66204707G>C	ENST00000370621.3	-	4	1123	c.597C>G	c.(595-597)agC>agG	p.S199R	EYS_ENST00000370618.3_Missense_Mutation_p.S199R|EYS_ENST00000342421.5_Missense_Mutation_p.S199R|EYS_ENST00000503581.1_Missense_Mutation_p.S199R|EYS_ENST00000370616.2_Missense_Mutation_p.S199R|EYS_ENST00000393380.2_Missense_Mutation_p.S199R			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	199	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GGCAATGGCAGCTATATGTCT	0.398																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(595-597)agC>agG		eyes shut homolog (Drosophila)							48.0	46.0	47.0					6																	66204707		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204707G>C		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.597C>G	6.37:g.66204707G>C	ENSP00000359655:p.Ser199Arg					EYS_ENST00000393380.2_Missense_Mutation_p.S199R|EYS_ENST00000370616.2_Missense_Mutation_p.S199R|EYS_ENST00000370618.3_Missense_Mutation_p.S199R|EYS_ENST00000370621.3_Missense_Mutation_p.S199R|EYS_ENST00000342421.5_Missense_Mutation_p.S199R	p.S199R	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	1134	-			199			EGF-like 1.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.597C>G		.	.	.	.	.	.	.	.	.	.	G	6.066	0.380501	0.11466	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	4.81	-0.304	0.12788	.	.	.	.	.	T	0.54334	0.1852	N	0.19112	0.55	0.09310	N	0.999999	B;B;B	0.22909	0.009;0.009;0.077	B;B;B	0.26094	0.01;0.016;0.066	T	0.46331	-0.9199	9	0.20519	T	0.43	.	3.8104	0.08795	0.4701:0.0:0.358:0.1719	.	199;199;199	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	R	199	ENSP00000424243:S199R;ENSP00000359655:S199R;ENSP00000359650:S199R;ENSP00000377042:S199R;ENSP00000341818:S199R;ENSP00000359652:S199R	ENSP00000341818:S199R	S	-	3	2	EYS	66261428	0.926000	0.31397	0.051000	0.19133	0.718000	0.41266	1.343000	0.33930	-0.074000	0.12820	-1.237000	0.01550	AGC		0.398	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		9	37	0	0	0	1	0	9	37				
MRGPRX3	117195	broad.mit.edu	37	11	18158857	18158857	+	Silent	SNP	C	C	T	rs201385722		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:18158857C>T	ENST00000396275.2	+	3	469	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGACGTGCATCGTTTCCCTTG	0.582																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(106-108)atC>atT		MAS-related GPR, member X3		C		0,4400		0,0,2200	154.0	149.0	151.0		108	1.5	0.0	11		151	2,8584	2.2+/-6.3	0,2,4291	no	coding-synonymous	MRGPRX3	NM_054031.3		0,2,6491	TT,TC,CC		0.0233,0.0,0.0154		36/323	18158857	2,12984	2200	4293	6493	SO:0001819	synonymous_variant	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158857C>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.108C>T	11.37:g.18158857C>T							p.I36I	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	469	+			36					B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	ENST00000396275.2	37	c.108C>T	CCDS7830.1																																																																																				0.582	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		5	259	0	0	0	1	0	5	259				
AIFM2	84883	broad.mit.edu	37	10	71874719	71874719	+	Silent	SNP	G	G	A	rs201852745		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:71874719G>A	ENST00000307864.1	-	8	1140	c.927C>T	c.(925-927)atC>atT	p.I309I	AIFM2_ENST00000373248.1_Silent_p.I309I|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	309					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CAGAGTTGACGATGTTGGCCA	0.577																																						ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(925-927)atC>atT		apoptosis-inducing factor, mitochondrion-associated, 2							59.0	49.0	52.0					10																	71874719		2203	4300	6503	SO:0001819	synonymous_variant	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71874719G>A	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.927C>T	10.37:g.71874719G>A						AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Silent_p.I309I	p.I309I	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN			8	1140	-			309					B3KXI0|Q63Z39	Silent	SNP	ENST00000307864.1	37	c.927C>T	CCDS7297.1																																																																																				0.577	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		10	37	0	0	0	1	0	10	37				
FNDC3A	22862	broad.mit.edu	37	13	49775991	49775991	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr13:49775991G>A	ENST00000492622.2	+	24	3348	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K	FNDC3A_ENST00000398316.3_Missense_Mutation_p.E959K|FNDC3A_ENST00000541916.1_Missense_Mutation_p.E1015K	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1015	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGACTTAATGAGTCAACATC	0.358																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(3043-3045)Gag>Aag		fibronectin type III domain containing 3A							93.0	94.0	94.0					13																	49775991		2203	4299	6502	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49775991G>A	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3043G>A	13.37:g.49775991G>A	ENSP00000417257:p.Glu1015Lys					FNDC3A_ENST00000398316.3_Missense_Mutation_p.E959K|FNDC3A_ENST00000541916.1_Missense_Mutation_p.E1015K	p.E1015K	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	24	3348	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	1015			Fibronectin type-III 8.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.3043G>A	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	35	5.580368	0.96565	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.57907	0.37;0.37;0.37	6.16	6.16	0.99307	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.77698	0.4169	M	0.89214	3.015	0.80722	D	1	D;P	0.89917	1.0;0.873	D;P	0.97110	1.0;0.882	T	0.74160	-0.3755	10	0.26408	T	0.33	-28.2534	19.848	0.96722	0.0:0.0:1.0:0.0	.	959;1015	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	K	1015;951;1015;959	ENSP00000417257:E1015K;ENSP00000441831:E1015K;ENSP00000381362:E959K	ENSP00000338579:E951K	E	+	1	0	FNDC3A	48673992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.414000	0.97362	2.937000	0.99478	0.650000	0.86243	GAG		0.358	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		32	8	0	0	0	1	0	32	8				
ATP11A	23250	broad.mit.edu	37	13	113488914	113488914	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr13:113488914C>T	ENST00000487903.1	+	15	1659	c.1571C>T	c.(1570-1572)aCc>aTc	p.T524I	ATP11A_ENST00000375630.2_Missense_Mutation_p.T524I|ATP11A_ENST00000283558.8_Missense_Mutation_p.T524I|ATP11A_ENST00000375645.3_Missense_Mutation_p.T524I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	524					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTTGGCTTTACCTACCTAAGG	0.423																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(1570-1572)aCc>aTc		ATPase, class VI, type 11A							200.0	198.0	199.0					13																	113488914		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113488914C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1571C>T	13.37:g.113488914C>T	ENSP00000420387:p.Thr524Ile					ATP11A_ENST00000283558.8_Missense_Mutation_p.T524I|ATP11A_ENST00000375630.2_Missense_Mutation_p.T524I|ATP11A_ENST00000375645.3_Missense_Mutation_p.T524I	p.T524I			P98196	AT11A_HUMAN			15	1659	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	524					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.1571C>T	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.98|10.98	1.503119|1.503119	0.26949|0.26949	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.|T;T;T;T	.|0.63913	.|-0.07;-0.07;-0.07;-0.07	4.84|4.84	4.84|4.84	0.62591|0.62591	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72581|0.72581	0.3478|0.3478	L|L	0.41961|0.41961	1.31|1.31	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.89917	.|1.0;0.043;0.009	.|D;B;B	.|0.97110	.|1.0;0.173;0.058	T|T	0.68379|0.68379	-0.5424|-0.5424	5|10	.|0.25106	.|T	.|0.35	.|.	18.3346|18.3346	0.90283|0.90283	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|524;524;524	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	S|I	499|524	.|ENSP00000420387:T524I;ENSP00000364781:T524I;ENSP00000364796:T524I;ENSP00000283558:T524I	.|ENSP00000283558:T524I	P|T	+|+	1|2	0|0	ATP11A|ATP11A	112536915|112536915	1.000000|1.000000	0.71417|0.71417	0.480000|0.480000	0.27341|0.27341	0.098000|0.098000	0.18820|0.18820	7.147000|7.147000	0.77382|0.77382	2.388000|2.388000	0.81334|0.81334	0.561000|0.561000	0.74099|0.74099	CCT|ACC		0.423	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		49	214	0	0	0	1	0	49	214				
TEX13B	56156	broad.mit.edu	37	X	107225158	107225158	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:107225158C>A	ENST00000302917.1	-	2	292	c.200G>T	c.(199-201)tGc>tTc	p.C67F		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	67										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GCCCCAGGTGCAGGCCTCTTT	0.592																																						ENST00000302917.1																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(199-201)tGc>tTc		testis expressed 13B							85.0	82.0	83.0					X																	107225158		2199	4300	6499	SO:0001583	missense	0							g.chrX:107225158C>A	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.200G>T	X.37:g.107225158C>A	ENSP00000303777:p.Cys67Phe						p.C67F	NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN			2	292	-			67					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.200G>T	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644696	0.47258	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.28	3.28	0.37604	.	.	.	.	.	T	0.59824	0.2222	L	0.61036	1.89	0.29981	N	0.817735	D	0.69078	0.997	P	0.62298	0.9	T	0.57370	-0.7823	8	0.87932	D	0	.	9.1481	0.36946	0.0:1.0:0.0:0.0	.	67	Q9BXU2	TX13B_HUMAN	F	67	.	ENSP00000303777:C67F	C	-	2	0	TEX13B	107111814	0.992000	0.36948	0.735000	0.30896	0.023000	0.10783	1.892000	0.39748	1.895000	0.54865	0.523000	0.50628	TGC		0.592	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			165	18	1	0	9.28845e-81	1	1.21005e-80	165	18				
MESDC1	59274	broad.mit.edu	37	15	81294956	81294956	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:81294956T>C	ENST00000267984.2	+	1	1662	c.344T>C	c.(343-345)cTg>cCg	p.L115P		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	115										endometrium(1)|lung(2)	3						CTGGTGGAGCTGGGCGACCTG	0.726																																						ENST00000267984.2																			0				endometrium(1)|lung(2)	3						c.(343-345)cTg>cCg		mesoderm development candidate 1							13.0	11.0	12.0					15																	81294956		2004	3901	5905	SO:0001583	missense	59274							g.chr15:81294956T>C	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.344T>C	15.37:g.81294956T>C	ENSP00000267984:p.Leu115Pro						p.L115P	NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN			1	1662	+			115						Missense_Mutation	SNP	ENST00000267984.2	37	c.344T>C	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097391	0.56075	.	.	ENSG00000140406	ENST00000267984	T	0.08634	3.07	4.02	2.89	0.33648	.	0.145674	0.40385	U	0.001102	T	0.06096	0.0158	N	0.08118	0	0.58432	D	0.999999	D	0.54207	0.965	P	0.47981	0.563	T	0.43491	-0.9388	10	0.54805	T	0.06	-9.9733	9.2357	0.37464	0.0:0.088:0.0:0.912	.	115	Q9H1K6	MESD1_HUMAN	P	115	ENSP00000267984:L115P	ENSP00000267984:L115P	L	+	2	0	MESDC1	79082011	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.493000	0.81493	0.531000	0.28639	0.260000	0.18958	CTG		0.726	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		3	16	0	0	0	1	0	3	16				
DNAJC13	23317	broad.mit.edu	37	3	132202305	132202305	+	Silent	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:132202305C>G	ENST00000260818.6	+	28	3314	c.3066C>G	c.(3064-3066)tcC>tcG	p.S1022S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1022					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CACTTCAGTCCATACCCCAGC	0.458																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(3064-3066)tcC>tcG		DnaJ (Hsp40) homolog, subfamily C, member 13							181.0	152.0	162.0					3																	132202305		2203	4300	6503	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132202305C>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3066C>G	3.37:g.132202305C>G							p.S1022S	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			28	3314	+			1022					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.3066C>G	CCDS33857.1																																																																																				0.458	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		11	84	0	0	0	1	0	11	84				
NCOR1P1	149934	broad.mit.edu	37	20	26084296	26084296	+	RNA	SNP	A	A	G	rs61752037	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr20:26084296A>G	ENST00000478176.1	-	0	161					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1									p.F40F(1)									GTTTGCCTCCAAATGCTGGAT	0.378																																						ENST00000478176.1																			1	Substitution - coding silent(1)	p.F40F(1)	kidney(1)																	41.0	30.0	33.0					20																	26084296		692	1590	2282			0							g.chr20:26084296A>G	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084296A>G								NR_003678.1						0	161	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.378	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			3	27	0	0	0	1	0	3	27				
LOXL2	4017	broad.mit.edu	37	8	23167294	23167294	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:23167294G>A	ENST00000389131.3	-	10	2136	c.1767C>T	c.(1765-1767)ccC>ccT	p.P589P		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	589	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGCCCGTGGTGGGGTCGGTCT	0.662																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1765-1767)ccC>ccT		lysyl oxidase-like 2							36.0	34.0	35.0					8																	23167294		2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23167294G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1767C>T	8.37:g.23167294G>A							p.P589P	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	10	2136	-		Prostate(55;0.0453)|Breast(100;0.143)	589			Lysyl-oxidase like.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.1767C>T	CCDS34864.1																																																																																				0.662	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			8	48	0	0	0	1	0	8	48				
ARHGEF18	23370	broad.mit.edu	37	19	7534894	7534894	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:7534894C>A	ENST00000359920.6	+	18	3581	c.3328C>A	c.(3328-3330)Cac>Aac	p.H1110N	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.D1067E|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.H952N	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1110	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCCCGGCAGACACAGTCCTGC	0.662																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(3328-3330)Cac>Aac		Rho/Rac guanine nucleotide exchange factor (GEF) 18							57.0	67.0	63.0					19																	7534894		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7534894C>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.3328C>A	19.37:g.7534894C>A	ENSP00000352995:p.His1110Asn					CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.D1067E|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.H952N	p.H1110N	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			18	3581	+		Renal(5;0.0902)	1110			Pro-rich.		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.3328C>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976522	0.34848	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.29917	1.57;1.55	5.41	4.35	0.52113	.	0.404280	0.20912	N	0.083459	T	0.21962	0.0529	L	0.36672	1.1	0.33953	D	0.644698	B;B	0.32467	0.372;0.255	B;B	0.26864	0.074;0.023	T	0.25257	-1.0137	10	0.17832	T	0.49	-10.2431	13.0193	0.58777	0.1624:0.8376:0.0:0.0	.	952;1110	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	N	952;1110	ENSP00000319200:H952N;ENSP00000352995:H1110N	ENSP00000319200:H952N	H	+	1	0	ARHGEF18	7440894	0.925000	0.31364	0.038000	0.18304	0.007000	0.05969	1.999000	0.40806	1.230000	0.43646	0.561000	0.74099	CAC		0.662	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		4	108	1	0	0.150653	1	0.151722	4	108				
NOS1	4842	broad.mit.edu	37	12	117703237	117703237	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:117703237G>A	ENST00000338101.4	-	11	2024	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.R674W			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CAGCCCCCCCGGCAGCGGTAC	0.607																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2020-2022)Cgg>Tgg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						32.0	35.0	34.0					12																	117703237		2103	4261	6364	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117703237G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2020C>T	12.37:g.117703237G>A	ENSP00000337459:p.Arg674Trp					NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R674W	p.R674W	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	12	2705	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		674						Missense_Mutation	SNP	ENST00000338101.4	37	c.2020C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311401	0.81358	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.35789	1.29;1.29	5.37	4.45	0.53987	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77970	-0.2387	10	0.87932	D	0	-23.068	14.7805	0.69764	0.0:0.0:0.8501:0.1499	.	674	P29475	NOS1_HUMAN	W	569;674;674;674	ENSP00000320758:R674W;ENSP00000337459:R674W	ENSP00000320758:R674W	R	-	1	2	NOS1	116187620	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.106000	0.57804	1.437000	0.47472	0.655000	0.94253	CGG		0.607	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			9	8	0	0	0	1	0	9	8				
NR3C2	4306	broad.mit.edu	37	4	149356602	149356602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:149356602C>A	ENST00000358102.3	-	2	1773	c.1411G>T	c.(1411-1413)Gga>Tga	p.G471*	NR3C2_ENST00000344721.4_Nonsense_Mutation_p.G471*|NR3C2_ENST00000511528.1_Nonsense_Mutation_p.G471*|NR3C2_ENST00000512865.1_Nonsense_Mutation_p.G471*|NR3C2_ENST00000355292.3_Nonsense_Mutation_p.G471*	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	471	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CCTAAAATTCCTGATAGGGAA	0.433																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1411-1413)Gga>Tga		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						57.0	57.0	57.0					4																	149356602		2203	4300	6503	SO:0001587	stop_gained	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149356602C>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1411G>T	4.37:g.149356602C>A	ENSP00000350815:p.Gly471*					NR3C2_ENST00000511528.1_Nonsense_Mutation_p.G471*|NR3C2_ENST00000344721.4_Nonsense_Mutation_p.G471*|NR3C2_ENST00000342437.4_Nonsense_Mutation_p.G471*|NR3C2_ENST00000512865.1_Nonsense_Mutation_p.G471*|NR3C2_ENST00000358102.3_Nonsense_Mutation_p.G471*	p.G471*			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1773	-	all_hematologic(180;0.151)		471			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Nonsense_Mutation	SNP	ENST00000358102.3	37	c.1411G>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	39	7.605904	0.98387	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	.	.	.	5.4	4.56	0.56223	.	0.094155	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6309	0.68655	0.0:0.9291:0.0:0.0709	.	.	.	.	X	471	.	.	G	-	1	0	NR3C2	149576052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.407000	0.80029	1.403000	0.46800	0.655000	0.94253	GGA		0.433	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			23	48	1	0	3.62473e-10	1	4.05285e-10	23	48				
MALAT1	378938	broad.mit.edu	37	11	65271184	65271184	+	lincRNA	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:65271184T>G	ENST00000534336.1	+	0	5952					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GGGGGGATTCTTCTCTAATCT	0.363																																						ENST00000534336.1																			0																				74.0	74.0	74.0					11																	65271184		874	1988	2862			0							g.chr11:65271184T>G	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271184T>G								NR_002819.2						0	5952	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.363	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		44	44	0	0	0	1	0	44	44				
RAD54L	8438	broad.mit.edu	37	1	46725698	46725698	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:46725698C>T	ENST00000371975.4	+	5	1008	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	RAD54L_ENST00000442598.1_Missense_Mutation_p.P112S	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	112					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCTCCATGACCCCCTGGAAAA	0.537								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(334-336)Ccc>Tcc	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							95.0	101.0	99.0					1																	46725698		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46725698C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.334C>T	1.37:g.46725698C>T	ENSP00000361043:p.Pro112Ser					RAD54L_ENST00000442598.1_Missense_Mutation_p.P112S	p.P112S	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	5	1008	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	112					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.334C>T	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	35	5.538630	0.96474	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.81499	-1.5;-1.5	5.82	5.82	0.92795	Rad54, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90950	0.4804	10	0.59425	D	0.04	-13.3982	20.0886	0.97806	0.0:1.0:0.0:0.0	.	112	Q92698	RAD54_HUMAN	S	112	ENSP00000396113:P112S;ENSP00000361043:P112S	ENSP00000361043:P112S	P	+	1	0	RAD54L	46498285	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.814000	0.86154	2.740000	0.93945	0.557000	0.71058	CCC		0.537	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		93	84	0	0	0	1	0	93	84				
DMPK	1760	broad.mit.edu	37	19	46274875	46274875	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:46274875G>A	ENST00000291270.4	-	12	1676	c.1551C>T	c.(1549-1551)gtC>gtT	p.V517V	AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|DMPK_ENST00000343373.4_Silent_p.V527V|SIX5_ENST00000560168.1_5'Flank|AC074212.6_ENST00000591530.1_RNA|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000354227.5_Silent_p.V512V|DMPK_ENST00000458663.2_Silent_p.V512V|DMPK_ENST00000447742.2_Silent_p.V512V|SIX5_ENST00000317578.6_5'Flank|DMPK_ENST00000600757.1_Silent_p.V522V|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000586251.1_RNA	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	517					cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCAACTGCCGGACGTGTGCCT	0.672																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(1564-1566)gtC>gtT		dystrophia myotonica-protein kinase							64.0	57.0	59.0					19																	46274875		2203	4300	6503	SO:0001819	synonymous_variant	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46274875G>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1551C>T	19.37:g.46274875G>A						AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000458663.2_Silent_p.V512V|DMPK_ENST00000447742.2_Silent_p.V512V|DMPK_ENST00000343373.4_Silent_p.V527V|DMPK_ENST00000291270.4_Silent_p.V517V|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000354227.5_Silent_p.V512V|AC074212.6_ENST00000591530.1_RNA|AC074212.6_ENST00000590076.1_RNA	p.V522V			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	11	2253	-		Ovarian(192;0.0308)|all_neural(266;0.112)	527					E5KR08|Q16205|Q6P5Z6	Silent	SNP	ENST00000291270.4	37	c.1566C>T	CCDS12674.1																																																																																				0.672	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		18	51	0	0	0	1	0	18	51				
MT-ND5	4540	broad.mit.edu	37	M	13852	13852	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrM:13852T>A	ENST00000361567.2	+	1	1516	c.1516T>A	c.(1516-1518)Tac>Aac	p.Y506N	MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	506					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TAGACCTCAACTACCTAACCA	0.463																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1516-1518)Tac>Aac		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13852T>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1516T>A	M.37:g.13852T>A	ENSP00000354813:p.Tyr506Asn						p.Y506N			P03915	NU5M_HUMAN			1	1516	+			506					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.1516T>A																																																																																					0.463	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		14	143	0	0	0	1	0	14	143				
CHST2	9435	broad.mit.edu	37	3	142840559	142840559	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:142840559C>T	ENST00000309575.3	+	2	2285	c.901C>T	c.(901-903)Cta>Tta	p.L301L		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	301					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTACCGCACACTAGTCATAAA	0.647																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(901-903)Cta>Tta		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							26.0	27.0	27.0					3																	142840559		2198	4298	6496	SO:0001819	synonymous_variant	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840559C>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.901C>T	3.37:g.142840559C>T							p.L301L	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2285	+			301					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	c.901C>T	CCDS3129.1																																																																																				0.647	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		4	17	0	0	0	1	0	4	17				
EXPH5	23086	broad.mit.edu	37	11	108385313	108385313	+	Silent	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:108385313T>C	ENST00000265843.4	-	6	1031	c.921A>G	c.(919-921)aaA>aaG	p.K307K	EXPH5_ENST00000525344.1_Silent_p.K300K|EXPH5_ENST00000428840.1_Silent_p.K231K|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Silent_p.K119K	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	307					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATAATCTTCTTTAAAGACTC	0.438																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(919-921)aaA>aaG		exophilin 5							58.0	57.0	57.0					11																	108385313		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108385313T>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.921A>G	11.37:g.108385313T>C						EXPH5_ENST00000525344.1_Silent_p.K300K|EXPH5_ENST00000443411.1_Silent_p.K119K|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.K231K	p.K307K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	1031	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	307					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.921A>G	CCDS8341.1																																																																																				0.438	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		12	23	0	0	0	1	0	12	23				
HNRNPA2B1	3181	broad.mit.edu	37	7	26235493	26235493	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:26235493T>C	ENST00000354667.4	-	8	899	c.731A>G	c.(730-732)tAt>tGt	p.Y244C	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.Y232C	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	244	Gly-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ATACCCATTATAGCCATCCCC	0.363			T	ETV1	prostate																																	ENST00000354667.4				Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate	HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(730-732)tAt>tGt		heterogeneous nuclear ribonucleoprotein A2/B1							114.0	98.0	104.0					7																	26235493		2203	4300	6503	SO:0001583	missense	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26235493T>C	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.731A>G	7.37:g.26235493T>C	ENSP00000346694:p.Tyr244Cys					HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.Y232C	p.Y244C	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN			8	899	-			244			Gly-rich.		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	c.731A>G	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843796	0.51164	.	.	ENSG00000122566	ENST00000354667;ENST00000356674	D;D	0.86694	-2.16;-2.16	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000009	D	0.91181	0.7222	M	0.82517	2.595	0.36022	D	0.838797	D;D	0.61697	0.99;0.983	P;P	0.51415	0.476;0.669	D	0.93477	0.6824	10	0.39692	T	0.17	.	16.3839	0.83495	0.0:0.0:0.0:1.0	.	232;244	P22626-2;P22626	.;ROA2_HUMAN	C	244;232	ENSP00000346694:Y244C;ENSP00000349101:Y232C	ENSP00000346694:Y244C	Y	-	2	0	HNRNPA2B1	26202018	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.466000	0.53071	2.258000	0.74832	0.533000	0.62120	TAT		0.363	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		54	19	0	0	0	1	0	54	19				
RLF	6018	broad.mit.edu	37	1	40703957	40703957	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:40703957C>T	ENST00000372771.4	+	8	3610	c.3583C>T	c.(3583-3585)Cat>Tat	p.H1195Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1195					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TAAAAATAAACATCAAATTGG	0.358																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(3583-3585)Cat>Tat		rearranged L-myc fusion							72.0	76.0	74.0					1																	40703957		2200	4299	6499	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40703957C>T		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.3583C>T	1.37:g.40703957C>T	ENSP00000361857:p.His1195Tyr						p.H1195Y	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	3610	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1195					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.3583C>T	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221307	0.79464	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	D	0.81908	-1.55	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.90625	0.7060	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89399	0.3694	10	0.52906	T	0.07	-13.7172	20.6593	0.99626	0.0:1.0:0.0:0.0	.	888;1195	F5H2M5;Q13129	.;RLF_HUMAN	Y	1195;888	ENSP00000361857:H1195Y	ENSP00000361857:H1195Y	H	+	1	0	RLF	40476544	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.373000	0.79623	2.885000	0.99019	0.655000	0.94253	CAT		0.358	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		31	32	0	0	0	1	0	31	32				
CORO6	84940	broad.mit.edu	37	17	27945807	27945807	+	Splice_Site	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:27945807C>G	ENST00000445145.2	-	4	635		c.e4+1		CORO6_ENST00000345068.5_Splice_Site|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000388767.3_Splice_Site|CORO6_ENST00000456796.3_5'Flank|CORO6_ENST00000580212.1_Splice_Site|CORO6_ENST00000584969.1_Splice_Site|RP11-68I3.10_ENST00000582367.1_RNA|CORO6_ENST00000577909.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6						actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CAGGCACTCACCGCCACCACT	0.602																																						ENST00000345068.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						c.e5+1		coronin 6							48.0	49.0	48.0					17																	27945807		2084	4196	6280	SO:0001630	splice_region_variant	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27945807C>G	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.633+1G>C	17.37:g.27945807C>G						CORO6_ENST00000445145.2_Splice_Site|CORO6_ENST00000584969.1_Splice_Site|CORO6_ENST00000388767.3_Splice_Site|CORO6_ENST00000580212.1_Splice_Site|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron				Q6QEF8	CORO6_HUMAN			5	847	-								B3KU26|Q71MF3|Q8WYH7|Q96K02	Splice_Site	SNP	ENST00000445145.2	37			.	.	.	.	.	.	.	.	.	.	C	26.0	4.692356	0.88735	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1313	0.98000	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CORO6	24969933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.398000	0.79919	2.837000	0.97791	0.655000	0.94253	.		0.602	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854	Intron	15	25	0	0	0	1	0	15	25				
SGOL1	151648	broad.mit.edu	37	3	20216367	20216367	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:20216367T>A	ENST00000263753.4	-	6	795	c.656A>T	c.(655-657)aAg>aTg	p.K219M	SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.K219M|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000412997.1_Missense_Mutation_p.K219M|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.K219M|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000383774.1_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	219					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TTCAAAAGACTTCCCTGCCAA	0.373																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(655-657)aAg>aTg		shugoshin-like 1 (S. pombe)							133.0	128.0	130.0					3																	20216367		2203	4300	6503	SO:0001583	missense	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20216367T>A	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.656A>T	3.37:g.20216367T>A	ENSP00000263753:p.Lys219Met					SGOL1_ENST00000421451.1_Missense_Mutation_p.K219M|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.K219M|SGOL1_ENST00000412868.1_Missense_Mutation_p.K219M|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000437051.1_Intron	p.K219M	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN			6	1007	-			219					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	c.656A>T	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.868211	0.32977	.	.	ENSG00000129810	ENST00000263753;ENST00000421451;ENST00000412997;ENST00000412868	T;T;T;T	0.32753	1.44;1.44;1.46;1.46	5.96	0.591	0.17465	.	1.103650	0.06698	N	0.770929	T	0.16896	0.0406	N	0.22421	0.69	0.09310	N	1	B;P	0.38420	0.444;0.63	B;B	0.29942	0.109;0.109	T	0.18618	-1.0331	10	0.72032	D	0.01	.	3.9432	0.09336	0.1166:0.0667:0.2138:0.6029	.	219;219	B5BUA4;Q5FBB7	.;SGOL1_HUMAN	M	219	ENSP00000263753:K219M;ENSP00000414129:K219M;ENSP00000410458:K219M;ENSP00000406880:K219M	ENSP00000263753:K219M	K	-	2	0	SGOL1	20191371	0.001000	0.12720	0.000000	0.03702	0.727000	0.41649	0.886000	0.28241	-0.114000	0.11936	0.454000	0.30748	AAG		0.373	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		5	79	0	0	0	1	0	5	79				
PDZD8	118987	broad.mit.edu	37	10	119043162	119043162	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:119043162G>A	ENST00000334464.5	-	5	3321	c.3082C>T	c.(3082-3084)Cct>Tct	p.P1028S	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1028					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCCTCTGTAGGCAAGCCCCTG	0.403																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(3082-3084)Cct>Tct		PDZ domain containing 8							127.0	130.0	129.0					10																	119043162		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043162G>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.3082C>T	10.37:g.119043162G>A	ENSP00000334642:p.Pro1028Ser						p.P1028S	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	3321	-		Colorectal(252;0.19)	1028					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.3082C>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003864	0.74932	.	.	ENSG00000165650	ENST00000334464	D	0.87809	-2.3	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90817	0.7116	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.91551	0.5257	10	0.87932	D	0	-11.3498	19.8633	0.96793	0.0:0.0:1.0:0.0	.	1028	Q8NEN9	PDZD8_HUMAN	S	1028	ENSP00000334642:P1028S	ENSP00000334642:P1028S	P	-	1	0	PDZD8	119033152	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.628000	0.83189	2.697000	0.92050	0.591000	0.81541	CCT		0.403	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		6	125	0	0	0	1	0	6	125				
C7orf49	78996	broad.mit.edu	37	7	134851483	134851483	+	Silent	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:134851483C>A	ENST00000393114.3	-	4	535	c.354G>T	c.(352-354)ctG>ctT	p.L118L	C7orf49_ENST00000430372.1_Silent_p.L117L|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000483029.2_Silent_p.L63L|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000424142.1_Silent_p.L63L			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	118						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GGCCTGGAGCCAGTGCCTGTT	0.627																																						ENST00000424142.1																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(187-189)ctG>ctT		chromosome 7 open reading frame 49							65.0	75.0	71.0					7																	134851483		2203	4300	6503	SO:0001819	synonymous_variant	78996					cytoplasm		g.chr7:134851483C>A	BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"""modulator of retrovirus infection"""					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.354G>T	7.37:g.134851483C>A						C7orf49_ENST00000483029.2_Silent_p.L63L|C7orf49_ENST00000393114.3_Silent_p.L118L|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000430372.1_Silent_p.L117L	p.L63L	NM_001243749.1|NM_001243753.1	NP_001230678.1|NP_001230682.1	Q9BWK5	MRI_HUMAN			4	791	-			118					Q6NWZ4|Q6ZNR5	Silent	SNP	ENST00000393114.3	37	c.189G>T	CCDS5838.2																																																																																				0.627	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033		29	79	1	0	1.80694e-10	1	2.05269e-10	29	79				
GLRA3	8001	broad.mit.edu	37	4	175649822	175649822	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:175649822G>C	ENST00000274093.3	-	4	797	c.295C>G	c.(295-297)Cag>Gag	p.Q99E	GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Missense_Mutation_p.Q99E	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	99					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTCCATTTCTGACGAAGAAAG	0.378																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(295-297)Cag>Gag		glycine receptor, alpha 3	Glycine(DB00145)						65.0	74.0	71.0					4																	175649822		2203	4298	6501	SO:0001583	missense	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175649822G>C	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.295C>G	4.37:g.175649822G>C	ENSP00000274093:p.Gln99Glu					GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Missense_Mutation_p.Q99E	p.Q99E	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	4	797	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	99					D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.295C>G	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369507	0.61624	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.78595	-1.19;-1.19	4.86	4.86	0.63082	Neurotransmitter-gated ion-channel ligand-binding (3);	0.058198	0.64402	D	0.000001	T	0.80984	0.4729	M	0.64260	1.97	0.58432	D	0.999999	P;P	0.48911	0.917;0.684	P;P	0.48952	0.596;0.491	T	0.80103	-0.1522	10	0.33141	T	0.24	.	18.3492	0.90331	0.0:0.0:1.0:0.0	.	99;99	O75311-2;O75311	.;GLRA3_HUMAN	E	99	ENSP00000274093:Q99E;ENSP00000345284:Q99E	ENSP00000274093:Q99E	Q	-	1	0	GLRA3	175886397	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	9.830000	0.99415	2.411000	0.81874	0.557000	0.71058	CAG		0.378	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			24	68	0	0	0	1	0	24	68				
ALOX15B	247	broad.mit.edu	37	17	7950683	7950683	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:7950683A>T	ENST00000380183.4	+	11	1704	c.1565A>T	c.(1564-1566)aAc>aTc	p.N522I	ALOX15B_ENST00000573359.1_Intron|ALOX15B_ENST00000380173.2_Missense_Mutation_p.N493I|ALOX15B_ENST00000572022.1_Missense_Mutation_p.N510I	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	522	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GGCTTCCTAAACCAGGAGAGC	0.567																																						ENST00000380183.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(1564-1566)aAc>aTc		arachidonate 15-lipoxygenase, type B							75.0	77.0	76.0					17																	7950683		2203	4300	6503	SO:0001583	missense	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7950683A>T	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1565A>T	17.37:g.7950683A>T	ENSP00000369530:p.Asn522Ile					ALOX15B_ENST00000380173.2_Missense_Mutation_p.N493I|ALOX15B_ENST00000572022.1_Missense_Mutation_p.N510I|ALOX15B_ENST00000573359.1_Intron	p.N522I	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN			11	1704	+			522			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	c.1565A>T	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	A	4.749	0.139301	0.09083	.	.	ENSG00000179593	ENST00000380173;ENST00000380183	T;T	0.77098	-1.07;-1.07	3.95	0.708	0.18144	Lipoxygenase, C-terminal (3);	1.132720	0.06353	N	0.710291	T	0.63343	0.2503	N	0.20986	0.625	0.09310	N	1	B;B;B	0.29909	0.261;0.22;0.165	B;B;B	0.24701	0.055;0.033;0.055	T	0.54262	-0.8320	10	0.87932	D	0	-4.7501	6.0292	0.19671	0.2076:0.4774:0.3149:0.0	.	510;493;522	B4DNW8;O15296-4;O15296	.;.;LX15B_HUMAN	I	493;522	ENSP00000369520:N493I;ENSP00000369530:N522I	ENSP00000369520:N493I	N	+	2	0	ALOX15B	7891408	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	1.031000	0.30165	0.079000	0.16929	-0.242000	0.12053	AAC		0.567	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			8	34	0	0	0	1	0	8	34				
CTHRC1	115908	broad.mit.edu	37	8	104388056	104388056	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:104388056C>G	ENST00000330295.5	+	2	383	c.241C>G	c.(241-243)Cca>Gca	p.P81A	CTHRC1_ENST00000520880.1_5'Flank|CTHRC1_ENST00000520337.1_Missense_Mutation_p.P67A|CTHRC1_ENST00000415886.2_Missense_Mutation_p.P81A	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	81	Collagen-like.				cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			ACCTGGGATCCCAGGTCGGGA	0.527																																						ENST00000330295.5																			0				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(241-243)Cca>Gca		collagen triple helix repeat containing 1							90.0	98.0	95.0					8																	104388056		2203	4300	6503	SO:0001583	missense	115908					collagen		g.chr8:104388056C>G	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.241C>G	8.37:g.104388056C>G	ENSP00000330523:p.Pro81Ala					CTHRC1_ENST00000415886.2_Missense_Mutation_p.P81A|CTHRC1_ENST00000520337.1_Missense_Mutation_p.P67A	p.P81A	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	383	+			81			Collagen-like.		G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	c.241C>G	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943420	0.92593	.	.	ENSG00000164932	ENST00000330295;ENST00000415886;ENST00000520337;ENST00000297577	D;D;D	0.96745	-1.99;-1.99;-4.11	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.97823	0.9285	M	0.66560	2.04	0.80722	D	1	D;D	0.89917	1.0;0.986	D;P	0.87578	0.998;0.894	D	0.97832	1.0263	10	0.49607	T	0.09	-14.293	19.4886	0.95040	0.0:1.0:0.0:0.0	.	81;81	E7EVQ5;Q96CG8	.;CTHR1_HUMAN	A	81;81;67;67	ENSP00000330523:P81A;ENSP00000416045:P81A;ENSP00000430550:P67A	ENSP00000297577:P67A	P	+	1	0	CTHRC1	104457232	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.612000	0.88384	0.585000	0.79938	CCA		0.527	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455		18	123	0	0	0	1	0	18	123				
ARID1A	8289	broad.mit.edu	37	1	27106730	27106730	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:27106730C>A	ENST00000324856.7	+	20	6712	c.6341C>A	c.(6340-6342)cCg>cAg	p.P2114Q	ARID1A_ENST00000374152.2_Missense_Mutation_p.P1731Q|ARID1A_ENST00000540690.1_Missense_Mutation_p.P442Q|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1897Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2114					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCCTTTCCCCGCAGAGACTG	0.597			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(6340-6342)cCg>cAg		AT rich interactive domain 1A (SWI-like)							98.0	95.0	96.0					1																	27106730		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106730C>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6341C>A	1.37:g.27106730C>A	ENSP00000320485:p.Pro2114Gln					ARID1A_ENST00000540690.1_Missense_Mutation_p.P442Q|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1731Q|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1897Q	p.P2114Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6712	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2114					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.6341C>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110925	0.56398	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T;T;T;T	0.48201	0.82;0.82;1.26;0.82	4.97	4.97	0.65823	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.72566	0.3476	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.76677	-0.2871	10	0.87932	D	0	-7.4189	18.8325	0.92145	0.0:1.0:0.0:0.0	.	1731;2114;1897	O14497-3;O14497;O14497-2	.;ARI1A_HUMAN;.	Q	2114;1897;1731;442	ENSP00000320485:P2114Q;ENSP00000387636:P1897Q;ENSP00000363267:P1731Q;ENSP00000442437:P442Q	ENSP00000320485:P2114Q	P	+	2	0	ARID1A	26979317	1.000000	0.71417	0.987000	0.45799	0.916000	0.54674	7.417000	0.80156	2.767000	0.95098	0.585000	0.79938	CCG		0.597	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		60	137	1	0	7.47603e-22	1	9.23127e-22	60	137				
SLC14A2	8170	broad.mit.edu	37	18	43252989	43252989	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr18:43252989G>T	ENST00000255226.6	+	17	3170	c.2354G>T	c.(2353-2355)gGa>gTa	p.G785V	SLC14A2_ENST00000586448.1_Missense_Mutation_p.G785V|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.G262V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	785					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGCAATTGGATCCACCATG	0.527																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2353-2355)gGa>gTa		solute carrier family 14 (urea transporter), member 2							222.0	177.0	192.0					18																	43252989		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43252989G>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2354G>T	18.37:g.43252989G>T	ENSP00000255226:p.Gly785Val					SLC14A2_ENST00000586448.1_Missense_Mutation_p.G785V|SLC14A2_ENST00000589658.1_Missense_Mutation_p.G262V|RP11-116O18.3_ENST00000589510.1_RNA	p.G785V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			17	3170	+			785					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2354G>T	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923945	0.92319	.	.	ENSG00000132874	ENST00000255226	T	0.63096	-0.02	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000014	D	0.86818	0.6024	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90267	0.4305	10	0.87932	D	0	-14.2218	20.0212	0.97504	0.0:0.0:1.0:0.0	.	785	Q15849	UT2_HUMAN	V	785	ENSP00000255226:G785V	ENSP00000255226:G785V	G	+	2	0	SLC14A2	41506987	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	9.476000	0.97823	2.735000	0.93741	0.561000	0.74099	GGA		0.527	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			37	122	1	0	1.47197e-15	1	1.77135e-15	37	122				
SVEP1	79987	broad.mit.edu	37	9	113312294	113312294	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:113312294C>A	ENST00000401783.2	-	2	958	c.622G>T	c.(622-624)Gca>Tca	p.A208S	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.A185S|SVEP1_ENST00000302728.8_Missense_Mutation_p.A208S|SVEP1_ENST00000374469.1_Missense_Mutation_p.A185S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	208	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGTGACGCTGCAATTGGTCTA	0.443																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(622-624)Gca>Tca		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							156.0	152.0	154.0					9																	113312294		1937	4151	6088	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113312294C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.622G>T	9.37:g.113312294C>A	ENSP00000384917:p.Ala208Ser					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.A185S|SVEP1_ENST00000302728.8_Missense_Mutation_p.A208S|SVEP1_ENST00000374469.1_Missense_Mutation_p.A185S	p.A208S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			2	958	-			208			VWFA.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.622G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518313	0.64634	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.87196	0.6117	L	0.45228	1.405	0.49299	D	0.999774	B;B;D	0.89917	0.234;0.284;1.0	B;B;D	0.83275	0.074;0.119;0.996	D	0.87789	0.2617	10	0.87932	D	0	.	19.7555	0.96287	0.0:1.0:0.0:0.0	.	208;208;208	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	S	208;185;208;185	ENSP00000384917:A208S;ENSP00000363593:A185S;ENSP00000304118:A208S;ENSP00000363585:A185S	ENSP00000304118:A208S	A	-	1	0	SVEP1	112352115	1.000000	0.71417	0.622000	0.29159	0.582000	0.36321	7.384000	0.79751	2.737000	0.93849	0.563000	0.77884	GCA		0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				23	85	1	0	6.44725e-10	1	7.15242e-10	23	85				
C9orf9	11092	broad.mit.edu	37	9	135762851	135762851	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:135762851C>T	ENST00000372136.3	+	3	687	c.240C>T	c.(238-240)tgC>tgT	p.C80C	C9orf9_ENST00000356311.5_Silent_p.C80C|C9orf9_ENST00000350499.6_Silent_p.C80C			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	80						cytoplasmic microtubule (GO:0005881)		p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		ATAAGCTCTGCCAGCACTTTG	0.537																																						ENST00000372136.3																			1	Unknown(1)	p.?(1)	bone(1)	cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(238-240)tgC>tgT		chromosome 9 open reading frame 9							133.0	135.0	135.0					9																	135762851		2203	4300	6503	SO:0001819	synonymous_variant	11092							g.chr9:135762851C>T		CCDS6955.1	9q34.13	2012-03-06			ENSG00000165698	ENSG00000165698			1367	protein-coding gene	gene with protein product							Standard	NM_018956		Approved		uc004cby.1	Q96E40	OTTHUMG00000020847	ENST00000372136.3:c.240C>T	9.37:g.135762851C>T						C9orf9_ENST00000356311.5_Silent_p.C80C|C9orf9_ENST00000350499.6_Silent_p.C80C	p.C80C			Q96E40	CI009_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)	3	687	+			80					Q9UGQ0	Silent	SNP	ENST00000372136.3	37	c.240C>T																																																																																					0.537	C9orf9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000054806.1	NM_018956		31	225	0	0	0	1	0	31	225				
KCNH7	90134	broad.mit.edu	37	2	163302838	163302838	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:163302838A>T	ENST00000332142.5	-	7	1343	c.1244T>A	c.(1243-1245)cTg>cAg	p.L415Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.L408Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	415					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GACCAACAGCAGGATAAGCCA	0.453																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1243-1245)cTg>cAg		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						93.0	88.0	90.0					2																	163302838		2203	4299	6502	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163302838A>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1244T>A	2.37:g.163302838A>T	ENSP00000331727:p.Leu415Gln					KCNH7_ENST00000328032.4_Missense_Mutation_p.L408Q	p.L415Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			7	1343	-			415					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1244T>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999771	0.74818	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.97941	-4.62;-4.62	5.55	5.55	0.83447	.	0.136857	0.50627	D	0.000113	D	0.99077	0.9683	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.968	D	0.99418	1.0932	10	0.87932	D	0	.	15.6901	0.77442	1.0:0.0:0.0:0.0	.	408;415	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Q	415;408	ENSP00000331727:L415Q;ENSP00000333781:L408Q	ENSP00000333781:L408Q	L	-	2	0	KCNH7	163011084	1.000000	0.71417	0.731000	0.30826	0.715000	0.41141	9.281000	0.95811	2.114000	0.64651	0.528000	0.53228	CTG		0.453	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		5	25	0	0	0	1	0	5	25				
MT-CYB	4519	broad.mit.edu	37	M	15159	15159	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrM:15159T>A	ENST00000361789.2	+	1	413	c.413T>A	c.(412-414)aTa>aAa	p.I138K	MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	138					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)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						GTGAGGCCAAATATCATTCTG	0.458											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(412-414)aTa>aAa		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:15159T>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.413T>A	M.37:g.15159T>A	ENSP00000354554:p.Ile138Lys		OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	585		p.138_138insK							1	413	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.413T>A																																																																																					0.458	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		10	131	0	0	0	1	0	10	131				
PTEN	5728	broad.mit.edu	37	10	89692893	89692893	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:89692893C>A	ENST00000371953.3	+	5	1734	c.377C>A	c.(376-378)gCt>gAt	p.A126D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	126	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A126D(3)|p.A126V(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CACTGTAAAGCTGGAAAGGGA	0.408		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		56	Whole gene deletion(37)|Deletion - Frameshift(8)|Substitution - Missense(5)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A126D(3)|p.A126V(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|endometrium(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(376-378)gCt>gAt		phosphatase and tensin homolog							141.0	130.0	133.0					10																	89692893		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692893C>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.377C>A	10.37:g.89692893C>A	ENSP00000361021:p.Ala126Asp	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.A126D	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1734	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	126			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.377C>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114147	0.94339	.	.	ENSG00000171862	ENST00000371953	D	0.99150	-5.49	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99369	0.9778	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99063	1.0831	9	.	.	.	-8.4283	18.7776	0.91918	0.0:1.0:0.0:0.0	.	126	P60484	PTEN_HUMAN	D	126	ENSP00000361021:A126D	.	A	+	2	0	PTEN	89682873	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.452000	0.80683	2.411000	0.81874	0.655000	0.94253	GCT		0.408	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		81	51	1	0	3.31034e-53	1	4.23485e-53	81	51				
LRFN5	145581	broad.mit.edu	37	14	42360910	42360910	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr14:42360910G>T	ENST00000298119.4	+	4	3032	c.1843G>T	c.(1843-1845)Gaa>Taa	p.E615*	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	615						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCAATCTTCAGAAACTTGTTC	0.483										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1843-1845)Gaa>Taa		leucine rich repeat and fibronectin type III domain containing 5							141.0	113.0	123.0					14																	42360910		2203	4300	6503	SO:0001587	stop_gained	145581					integral to membrane		g.chr14:42360910G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1843G>T	14.37:g.42360910G>T	ENSP00000298119:p.Glu615*	HNSCC(30;0.082)				LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	p.E615*	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	3032	+			615					B3KU78|Q86XL2	Nonsense_Mutation	SNP	ENST00000298119.4	37	c.1843G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	47	13.860459	0.99767	.	.	ENSG00000165379	ENST00000298119	.	.	.	5.9	5.9	0.94986	.	0.205982	0.33650	N	0.004700	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	17.7706	0.88491	0.0:0.0:1.0:0.0	.	.	.	.	X	615	.	ENSP00000298119:E615X	E	+	1	0	LRFN5	41430660	0.996000	0.38824	0.999000	0.59377	0.979000	0.70002	2.941000	0.49011	2.808000	0.96608	0.650000	0.86243	GAA		0.483	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		16	36	1	0	0.000308642	1	0.000329528	16	36				
PLXNA1	5361	broad.mit.edu	37	3	126733148	126733148	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:126733148C>A	ENST00000393409.2	+	11	2534	c.2534C>A	c.(2533-2535)gCc>gAc	p.A845D	PLXNA1_ENST00000251772.4_Missense_Mutation_p.A822D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	845					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CACTGCGCTGCCGACACACCT	0.711																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2464-2466)gCc>gAc		plexin A1							9.0	9.0	9.0					3																	126733148		2149	4198	6347	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126733148C>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2534C>A	3.37:g.126733148C>A	ENSP00000377061:p.Ala845Asp					PLXNA1_ENST00000393409.2_Missense_Mutation_p.A845D	p.A822D			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	11	2534	+			845						Missense_Mutation	SNP	ENST00000393409.2	37	c.2465C>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	9.428	1.084702	0.20309	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.17691	2.26;2.26	3.64	1.71	0.24356	.	0.291275	0.28161	N	0.016368	T	0.19127	0.0459	M	0.65975	2.015	0.09310	N	1	B	0.19935	0.04	B	0.30029	0.11	T	0.22800	-1.0206	10	0.28530	T	0.3	.	9.3128	0.37915	0.1644:0.677:0.1586:0.0	.	845	Q9UIW2	PLXA1_HUMAN	D	845;822	ENSP00000377061:A845D;ENSP00000251772:A822D	ENSP00000251772:A822D	A	+	2	0	PLXNA1	128215838	0.048000	0.20356	0.001000	0.08648	0.026000	0.11368	2.350000	0.44063	0.286000	0.22352	0.491000	0.48974	GCC		0.711	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		4	25	1	0	0.150653	1	0.151722	4	25				
TRMT10B	158234	broad.mit.edu	37	9	37776300	37776300	+	Missense_Mutation	SNP	C	C	T	rs531666438		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:37776300C>T	ENST00000297994.3	+	8	807	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TRMT10B_ENST00000377753.2_Missense_Mutation_p.R170W|TRMT10B_ENST00000377754.2_Missense_Mutation_p.R153W|TRMT10B_ENST00000537911.1_Missense_Mutation_p.R197W|RP11-613M10.9_ENST00000540557.1_Intron	NM_144964.2	NP_659401.2	Q6PF06	TM10B_HUMAN	tRNA methyltransferase 10 homolog B (S. cerevisiae)	248	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.						methyltransferase activity (GO:0008168)										TCAAAAGGCCCGGGAATACTC	0.338													C|||	1	0.000199681	0.0	0.0	5008	,	,		16497	0.0		0.0	False		,,,				2504	0.001					ENST00000297994.3																			0											c.(742-744)Cgg>Tgg		tRNA methyltransferase 10 homolog B (S. cerevisiae)							33.0	28.0	29.0					9																	37776300		1808	4071	5879	SO:0001583	missense	158234							g.chr9:37776300C>T	BC057774	CCDS43804.1, CCDS69598.1, CCDS69600.1, CCDS69601.1	9p13.1	2012-06-28	2012-06-28	2012-06-28	ENSG00000165275	ENSG00000165275			26454	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 3"""	RG9MTD3		14702039	Standard	XM_005251373		Approved	FLJ31455, bA3J10.9	uc004aai.3	Q6PF06	OTTHUMG00000019933	ENST00000297994.3:c.742C>T	9.37:g.37776300C>T	ENSP00000297994:p.Arg248Trp					TRMT10B_ENST00000537911.1_Missense_Mutation_p.R197W|TRMT10B_ENST00000377754.2_Missense_Mutation_p.R153W|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377753.2_Missense_Mutation_p.R170W	p.R248W	NM_144964.2	NP_659401.2					8	807	+								B7Z216|B7Z3D3|Q05DJ4|Q5QP83|Q8NAG2|Q96N36	Missense_Mutation	SNP	ENST00000297994.3	37	c.742C>T	CCDS43804.1	.	.	.	.	.	.	.	.	.	.	C	9.220	1.033224	0.19590	.	.	ENSG00000165275	ENST00000377753;ENST00000537911;ENST00000377754;ENST00000297994	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.28	2.45	0.29901	.	1.273050	0.05177	N	0.500575	T	0.26991	0.0661	L	0.52905	1.665	0.28113	N	0.930911	B;B;B;B;B	0.24576	0.052;0.106;0.027;0.008;0.025	B;B;B;B;B	0.19391	0.016;0.025;0.012;0.001;0.022	T	0.29119	-1.0022	10	0.62326	D	0.03	1.4721	6.7314	0.23385	0.1283:0.6571:0.0:0.2146	.	137;170;197;153;248	B7Z9F7;B7Z216;B7Z3D3;Q6PF06-2;Q6PF06	.;.;.;.;RG9D3_HUMAN	W	170;197;153;248	ENSP00000366982:R170W;ENSP00000444997:R197W;ENSP00000366983:R153W;ENSP00000297994:R248W	ENSP00000297994:R248W	R	+	1	2	RG9MTD3	37766300	0.000000	0.05858	0.509000	0.27700	0.630000	0.37929	0.696000	0.25541	0.012000	0.14892	-1.731000	0.00696	CGG		0.338	TRMT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052482.1	NM_144964		11	4	0	0	0	1	0	11	4				
POTEC	388468	broad.mit.edu	37	18	14542810	14542810	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr18:14542810G>T	ENST00000358970.5	-	1	335	c.336C>A	c.(334-336)agC>agA	p.S112R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	112										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCTTGCCGCTCCCCCTGC	0.592																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(334-336)agC>agA		POTE ankyrin domain family, member C							32.0	42.0	39.0					18																	14542810		692	1590	2282	SO:0001583	missense	388468							g.chr18:14542810G>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.336C>A	18.37:g.14542810G>T	ENSP00000351856:p.Ser112Arg					POTEC_ENST00000389891.4_5'UTR	p.S112R	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	335	-			112						Missense_Mutation	SNP	ENST00000358970.5	37	c.336C>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	1.942	-0.443377	0.04604	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.31247	1.5	0.15	-0.299	0.12808	.	.	.	.	.	T	0.19127	0.0459	L	0.42245	1.32	0.09310	N	1	P	0.41929	0.765	B	0.37047	0.24	T	0.10917	-1.0609	8	0.33940	T	0.23	.	.	.	.	.	112	B2RU33	POTEC_HUMAN	R	112	ENSP00000351856:S112R	ENSP00000351856:S112R	S	-	3	2	POTEC	14532810	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.226000	0.09139	-1.047000	0.03242	-1.042000	0.02369	AGC		0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		121	163	1	0	1.19196e-58	1	1.53871e-58	121	163				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		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.chr17:7577120C>T	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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)				TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	0	0	0	0	1	0	26	0				
SYBU	55638	broad.mit.edu	37	8	110588205	110588205	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:110588205G>T	ENST00000422135.1	-	8	1437	c.922C>A	c.(922-924)Cgc>Agc	p.R308S	SYBU_ENST00000533065.1_Missense_Mutation_p.R189S|SYBU_ENST00000533171.1_Missense_Mutation_p.R308S|SYBU_ENST00000529175.1_Missense_Mutation_p.R102S|SYBU_ENST00000408908.2_Missense_Mutation_p.R308S|SYBU_ENST00000532779.1_Missense_Mutation_p.R240S|SYBU_ENST00000424158.2_Missense_Mutation_p.R313S|SYBU_ENST00000529690.1_Missense_Mutation_p.R178S|SYBU_ENST00000446070.2_Missense_Mutation_p.R307S|SYBU_ENST00000419099.1_Missense_Mutation_p.R307S|SYBU_ENST00000528647.1_Missense_Mutation_p.R307S|SYBU_ENST00000528331.1_Missense_Mutation_p.R189S|SYBU_ENST00000440310.1_Missense_Mutation_p.R308S|SYBU_ENST00000276646.9_Missense_Mutation_p.R308S|SYBU_ENST00000399066.3_Missense_Mutation_p.R305S|SYBU_ENST00000433638.1_Missense_Mutation_p.R308S|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000533895.1_Missense_Mutation_p.R307S|SYBU_ENST00000408889.3_Missense_Mutation_p.R189S	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	308	Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCTCGCATGCGGGCCAGCTGG	0.433																																						ENST00000399066.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(913-915)Cgc>Agc		syntabulin (syntaxin-interacting)							49.0	50.0	50.0					8																	110588205		1978	4206	6184	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110588205G>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.922C>A	8.37:g.110588205G>T	ENSP00000407118:p.Arg308Ser					SYBU_ENST00000528647.1_Missense_Mutation_p.R307S|SYBU_ENST00000533065.1_Missense_Mutation_p.R189S|SYBU_ENST00000529690.1_Missense_Mutation_p.R178S|SYBU_ENST00000533895.1_Missense_Mutation_p.R307S|SYBU_ENST00000422135.1_Missense_Mutation_p.R308S|SYBU_ENST00000529175.1_Missense_Mutation_p.R102S|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000446070.2_Missense_Mutation_p.R307S|SYBU_ENST00000408908.2_Missense_Mutation_p.R308S|SYBU_ENST00000424158.2_Missense_Mutation_p.R313S|SYBU_ENST00000440310.1_Missense_Mutation_p.R308S|SYBU_ENST00000433638.1_Missense_Mutation_p.R308S|SYBU_ENST00000276646.9_Missense_Mutation_p.R308S|SYBU_ENST00000419099.1_Missense_Mutation_p.R307S|SYBU_ENST00000528331.1_Missense_Mutation_p.R189S|SYBU_ENST00000408889.3_Missense_Mutation_p.R189S|SYBU_ENST00000533171.1_Missense_Mutation_p.R308S|SYBU_ENST00000532779.1_Missense_Mutation_p.R240S	p.R305S	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN			6	1640	-			308			Sufficient for interaction with KIF5B.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.913C>A	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694974	0.68386	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.8	3.92	0.45320	.	0.047372	0.85682	D	0.000000	T	0.79257	0.4415	M	0.80982	2.52	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;1.0;0.998;0.998	T	0.81510	-0.0900	9	0.87932	D	0	-14.6001	13.9687	0.64225	0.0:0.0:0.7233:0.2767	.	178;240;307;308;305	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	S	307;313;240;305;307;189;102;308;307;308;307;308;308;308;189;189;178;308	.	ENSP00000276646:R308S	R	-	1	0	SYBU	110657381	1.000000	0.71417	0.981000	0.43875	0.988000	0.76386	4.383000	0.59600	0.711000	0.32018	0.591000	0.81541	CGC		0.433	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		24	66	1	0	2.21704e-12	1	2.58048e-12	24	66				
HDAC6	10013	broad.mit.edu	37	X	48673986	48673986	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:48673986C>A	ENST00000334136.5	+	16	1439	c.1261C>A	c.(1261-1263)Cag>Aag	p.Q421K	HDAC6_ENST00000376619.2_Missense_Mutation_p.Q421K|HDAC6_ENST00000444343.2_Missense_Mutation_p.Q435K			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	421					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CTGCAGTGCCCAGGCTTCAGT	0.617																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1261-1263)Cag>Aag		histone deacetylase 6	Vorinostat(DB02546)						86.0	70.0	76.0					X																	48673986		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48673986C>A	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1261C>A	X.37:g.48673986C>A	ENSP00000334061:p.Gln421Lys					HDAC6_ENST00000376619.2_Missense_Mutation_p.Q421K|HDAC6_ENST00000444343.2_Missense_Mutation_p.Q435K	p.Q421K			Q9UBN7	HDAC6_HUMAN			16	1439	+			421					O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.1261C>A	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	C	1.907	-0.451617	0.04572	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.59224	0.28;0.29;0.29	5.5	3.7	0.42460	.	0.602490	0.15599	N	0.254002	T	0.36552	0.0971	L	0.31294	0.92	0.49389	D	0.999788	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.003;0.003;0.003	T	0.15925	-1.0420	10	0.02654	T	1	-2.2791	6.0453	0.19755	0.3417:0.5692:0.0:0.0891	.	411;69;421	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	K	435;421;421;421	ENSP00000398566:Q435K;ENSP00000334061:Q421K;ENSP00000365804:Q421K	ENSP00000334061:Q421K	Q	+	1	0	HDAC6	48558930	0.538000	0.26394	0.657000	0.29651	0.351000	0.29236	0.542000	0.23222	0.572000	0.29383	-0.351000	0.07748	CAG		0.617	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		23	88	1	0	2.89027e-11	1	3.30982e-11	23	88				
PARD3	56288	broad.mit.edu	37	10	34400456	34400456	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:34400456C>G	ENST00000374789.3	-	25	4037	c.3712G>C	c.(3712-3714)Gac>Cac	p.D1238H	PARD3_ENST00000545260.1_Missense_Mutation_p.D1148H|PARD3_ENST00000545693.1_Missense_Mutation_p.D1222H|PARD3_ENST00000374790.3_Missense_Mutation_p.D1178H|PARD3_ENST00000374788.3_Missense_Mutation_p.D1235H|PARD3_ENST00000374794.3_Missense_Mutation_p.D1126H|PARD3_ENST00000346874.4_Missense_Mutation_p.D1201H|PARD3_ENST00000350537.4_Missense_Mutation_p.D1192H	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1238					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCCCAAGAGTCCTGGGAGACC	0.567																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(3712-3714)Gac>Cac		par-3 family cell polarity regulator							56.0	58.0	57.0					10																	34400456		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34400456C>G	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3712G>C	10.37:g.34400456C>G	ENSP00000363921:p.Asp1238His					PARD3_ENST00000374790.3_Missense_Mutation_p.D1178H|PARD3_ENST00000350537.4_Missense_Mutation_p.D1192H|PARD3_ENST00000545260.1_Missense_Mutation_p.D1148H|PARD3_ENST00000545693.1_Missense_Mutation_p.D1222H|PARD3_ENST00000346874.4_Missense_Mutation_p.D1201H|PARD3_ENST00000374794.3_Missense_Mutation_p.D1126H|PARD3_ENST00000374788.3_Missense_Mutation_p.D1235H	p.D1238H	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			25	4037	-		Breast(68;0.0707)	1238					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.3712G>C	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720341	0.89205	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.20332	2.25;2.17;2.33;2.32;2.13;2.08;2.17;2.27	5.87	5.87	0.94306	.	0.200055	0.53938	D	0.000058	T	0.44074	0.1276	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D	0.91635	0.983;0.873;0.999;0.999;0.999;0.983;0.999;0.999	T	0.11641	-1.0579	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1126;1148;1155;1192;1222;1201;1235;1238	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	H	1222;1148;1238;1235;1201;1126;1192;1178	ENSP00000443147:D1222H;ENSP00000440857:D1148H;ENSP00000363921:D1238H;ENSP00000363920:D1235H;ENSP00000340591:D1201H;ENSP00000363926:D1126H;ENSP00000311986:D1192H;ENSP00000363922:D1178H	ENSP00000340591:D1201H	D	-	1	0	PARD3	34440462	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GAC		0.567	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		32	51	0	0	0	1	0	32	51				
RCN2	5955	broad.mit.edu	37	15	77224706	77224706	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:77224706A>C	ENST00000394885.3	+	2	372	c.149A>C	c.(148-150)gAt>gCt	p.D50A	RCN2_ENST00000320963.5_Missense_Mutation_p.D50A|RCN2_ENST00000394883.3_Intron	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	50						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						CTAAAGGAAGATGTGGATGAA	0.473																																						ENST00000394885.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						c.(148-150)gAt>gCt		reticulocalbin 2, EF-hand calcium binding domain							64.0	54.0	58.0					15																	77224706		2196	4294	6490	SO:0001583	missense	5955					endoplasmic reticulum lumen	calcium ion binding	g.chr15:77224706A>C	X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"""EF-hand domain containing"""	9935	protein-coding gene	gene with protein product	"""Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"""	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.149A>C	15.37:g.77224706A>C	ENSP00000378349:p.Asp50Ala					RCN2_ENST00000394883.3_Intron|RCN2_ENST00000320963.5_Missense_Mutation_p.D50A	p.D50A	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN			2	372	+			50					A8MTG6|F8WCY5|Q53XN8	Missense_Mutation	SNP	ENST00000394885.3	37	c.149A>C	CCDS10291.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546757	0.65198	.	.	ENSG00000117906	ENST00000394885;ENST00000320963	T;T	0.75050	-0.9;0.13	5.45	5.45	0.79879	.	0.329961	0.35525	N	0.003142	T	0.68247	0.2980	L	0.38175	1.15	0.80722	D	1	P;B	0.35575	0.51;0.191	B;B	0.36666	0.23;0.073	T	0.71915	-0.4448	10	0.72032	D	0.01	-5.953	15.5111	0.75782	1.0:0.0:0.0:0.0	.	50;50	F8WCY5;Q14257	.;RCN2_HUMAN	A	50	ENSP00000378349:D50A;ENSP00000319739:D50A	ENSP00000319739:D50A	D	+	2	0	RCN2	75011761	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.314000	0.59166	2.053000	0.61076	0.482000	0.46254	GAT		0.473	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289795.1	NM_002902		15	7	0	0	0	1	0	15	7				
MAGEB6	158809	broad.mit.edu	37	X	26212812	26212812	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:26212812G>A	ENST00000379034.1	+	2	998	c.849G>A	c.(847-849)ccG>ccA	p.P283P		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	283	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGCGCTGCCGAAGTCGGGTC	0.527																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(847-849)ccG>ccA		melanoma antigen family B, 6							139.0	128.0	132.0					X																	26212812		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212812G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.849G>A	X.37:g.26212812G>A							p.P283P	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	998	+			283			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.849G>A	CCDS14217.1																																																																																				0.527	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		30	271	0	0	0	1	0	30	271				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_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					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	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		3	8	0	0	0	1	0	3	8				
SLC5A7	60482	broad.mit.edu	37	2	108627055	108627055	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:108627055T>G	ENST00000264047.2	+	9	1757	c.1481T>G	c.(1480-1482)aTc>aGc	p.I494S	SLC5A7_ENST00000409059.1_Missense_Mutation_p.I494S|SLC5A7_ENST00000540517.1_Missense_Mutation_p.I389S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	494					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AACATTTGCATCTCCTATCTA	0.353																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1480-1482)aTc>aGc		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						102.0	99.0	100.0					2																	108627055		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108627055T>G	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1481T>G	2.37:g.108627055T>G	ENSP00000264047:p.Ile494Ser					SLC5A7_ENST00000540517.1_Missense_Mutation_p.I389S|SLC5A7_ENST00000409059.1_Missense_Mutation_p.I494S	p.I494S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			9	1757	+			494					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1481T>G	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735749	0.49045	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.92752	-2.85;-3.1;-2.85	5.95	4.8	0.61643	.	0.244283	0.47852	D	0.000208	D	0.89770	0.6811	L	0.54323	1.7	0.29345	N	0.865763	B	0.11235	0.004	B	0.19946	0.027	D	0.84892	0.0837	10	0.87932	D	0	-6.7259	12.2113	0.54381	0.0:0.0664:0.0:0.9336	.	494	Q9GZV3	SC5A7_HUMAN	S	494;389;494	ENSP00000387346:I494S;ENSP00000445351:I389S;ENSP00000264047:I494S	ENSP00000264047:I494S	I	+	2	0	SLC5A7	107993487	0.998000	0.40836	0.617000	0.29091	0.920000	0.55202	6.300000	0.72776	1.073000	0.40885	0.528000	0.53228	ATC		0.353	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			8	22	0	0	0	1	0	8	22				
ILDR2	387597	broad.mit.edu	37	1	166896409	166896409	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:166896409C>G	ENST00000271417.3	-	7	944	c.889G>C	c.(889-891)Ggt>Cgt	p.G297R	ILDR2_ENST00000528703.1_Missense_Mutation_p.G238R|ILDR2_ENST00000469934.2_Missense_Mutation_p.G297R|ILDR2_ENST00000526687.1_Missense_Mutation_p.G189R|ILDR2_ENST00000525740.1_Missense_Mutation_p.G170R|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G278R	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	297					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ATCCGGTAACCTTTGCGAACT	0.448																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(889-891)Ggt>Cgt		immunoglobulin-like domain containing receptor 2							137.0	131.0	133.0					1																	166896409		2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166896409C>G	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.889G>C	1.37:g.166896409C>G	ENSP00000271417:p.Gly297Arg					ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Missense_Mutation_p.G189R|ILDR2_ENST00000469934.2_Missense_Mutation_p.G297R|ILDR2_ENST00000529071.1_Missense_Mutation_p.G278R|ILDR2_ENST00000528703.1_Missense_Mutation_p.G238R|ILDR2_ENST00000525740.1_Missense_Mutation_p.G170R	p.G297R	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN			7	944	-			297						Missense_Mutation	SNP	ENST00000271417.3	37	c.889G>C	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041407	0.93685	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;D;T;T;D;T	0.96745	-0.85;-4.11;-0.47;-0.95;-3.73;-0.44	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	D	0.97986	0.9337	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97866	1.0283	10	0.59425	D	0.04	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	297	Q71H61	ILDR2_HUMAN	R	297;170;297;278;189;238	ENSP00000271417:G297R;ENSP00000436120:G170R;ENSP00000437008:G297R;ENSP00000436882:G278R;ENSP00000434273:G189R;ENSP00000432750:G238R	ENSP00000271417:G297R	G	-	1	0	ILDR2	165163033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.153000	0.77428	2.793000	0.96121	0.655000	0.94253	GGT		0.448	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		5	177	0	0	0	1	0	5	177				
PIGC	5279	broad.mit.edu	37	1	172411608	172411608	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:172411608A>T	ENST00000367728.1	-	1	1618	c.155T>A	c.(154-156)gTa>gAa	p.V52E	PIGC_ENST00000344529.4_Missense_Mutation_p.V52E|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.V52E|PIGC_ENST00000484368.1_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	52					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GGACTCAAATACCACAGCCCA	0.493																																						ENST00000367728.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(154-156)gTa>gAa		phosphatidylinositol glycan anchor biosynthesis, class C							125.0	125.0	125.0					1																	172411608		2203	4300	6503	SO:0001583	missense	5279				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr1:172411608A>T	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.155T>A	1.37:g.172411608A>T	ENSP00000356702:p.Val52Glu					C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.V52E|PIGC_ENST00000344529.4_Missense_Mutation_p.V52E|PIGC_ENST00000484368.1_Intron	p.V52E			Q92535	PIGC_HUMAN			1	1618	-			52					O14491	Missense_Mutation	SNP	ENST00000367728.1	37	c.155T>A	CCDS1302.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483977	0.84854	.	.	ENSG00000135845	ENST00000344529;ENST00000367728;ENST00000258324	T;T;T	0.54479	0.57;0.57;0.57	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.69851	0.3157	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76881	-0.2795	10	0.72032	D	0.01	-0.2886	13.8968	0.63778	1.0:0.0:0.0:0.0	.	52	Q92535	PIGC_HUMAN	E	52	ENSP00000356701:V52E;ENSP00000356702:V52E;ENSP00000258324:V52E	ENSP00000258324:V52E	V	-	2	0	PIGC	170678231	1.000000	0.71417	0.935000	0.37517	0.969000	0.65631	8.793000	0.91862	1.970000	0.57323	0.533000	0.62120	GTA		0.493	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	NM_153747		53	273	0	0	0	1	0	53	273				
SPIDR	23514	broad.mit.edu	37	8	48614536	48614536	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:48614536C>G	ENST00000297423.4	+	14	2320	c.1936C>G	c.(1936-1938)Cgt>Ggt	p.R646G	SPIDR_ENST00000517693.1_Missense_Mutation_p.R121G|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.R576G|SPIDR_ENST00000518074.1_Missense_Mutation_p.R586G	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	646					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TCTTGGTACCCGTTGCAGTTT	0.423																																						ENST00000297423.4																			0											c.(1936-1938)Cgt>Ggt		scaffolding protein involved in DNA repair							114.0	108.0	110.0					8																	48614536		1902	4123	6025	SO:0001583	missense	23514							g.chr8:48614536C>G	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1936C>G	8.37:g.48614536C>G	ENSP00000297423:p.Arg646Gly					SPIDR_ENST00000517693.1_Missense_Mutation_p.R121G|SPIDR_ENST00000518074.1_Missense_Mutation_p.R586G|SPIDR_ENST00000541342.1_Missense_Mutation_p.R576G|SPIDR_ENST00000521214.1_3'UTR	p.R646G	NM_001080394.2	NP_001073863.1					14	2320	+								B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.1936C>G	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088251	0.55968	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362;ENST00000522321;ENST00000518692;ENST00000521056	.	.	.	5.37	3.58	0.41010	.	0.166847	0.53938	D	0.000052	T	0.55545	0.1927	M	0.62723	1.935	0.09310	N	1	D;D;D;P;D;D;P	0.71674	0.998;0.998;0.998;0.932;0.996;0.998;0.932	P;D;D;P;P;P;P	0.66351	0.905;0.943;0.943;0.6;0.905;0.905;0.6	T	0.47724	-0.9095	9	0.87932	D	0	.	8.529	0.33321	0.0:0.7573:0.0:0.2427	.	136;151;586;576;646;121;646	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B3KP42;Q14159	.;.;.;.;.;.;K0146_HUMAN	G	646;586;576;151;121;121;7;7;7	.	ENSP00000297423:R646G	R	+	1	0	KIAA0146	48777089	0.020000	0.18652	0.003000	0.11579	0.351000	0.29236	0.894000	0.28350	0.673000	0.31224	0.650000	0.86243	CGT		0.423	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		13	73	0	0	0	1	0	13	73				
DISC1	27185	broad.mit.edu	37	1	231954196	231954196	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:231954196G>C	ENST00000602281.1	+	9	1967	c.1914G>C	c.(1912-1914)aaG>aaC	p.K638N	DISC1_ENST00000537876.1_Intron|DISC1_ENST00000602873.1_3'UTR|DISC1_ENST00000439617.2_Missense_Mutation_p.K638N|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.K638N|DISC1_ENST00000366633.3_Missense_Mutation_p.K638N|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.K638N	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	638	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATGTCAAAAAGCTGGGAAGTG	0.478																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1912-1914)aaG>aaC		disrupted in schizophrenia 1							87.0	92.0	90.0					1																	231954196		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231954196G>C	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1914G>C	1.37:g.231954196G>C	ENSP00000473425:p.Lys638Asn					DISC1_ENST00000539444.1_3'UTR|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.K638N|DISC1_ENST00000366633.3_Missense_Mutation_p.K638N|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.K638N|DISC1_ENST00000602873.1_3'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.K638N	p.K638N	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			9	1967	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	638			Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.1914G>C	CCDS59205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.36|17.36	3.370643|3.370643	0.61624|0.61624	.|.	.|.	ENSG00000162946|ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000366633|ENST00000422590	T;T;T;T|.	0.11169|.	3.0;2.81;2.8;2.98|.	5.23|5.23	-1.73|-1.73	0.08081|0.08081	.|.	0.511058|.	0.22324|.	N|.	0.061553|.	T|T	0.36826|0.36826	0.0981|0.0981	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	1|1	B;D;B;D;B;D;D;B;P;B;D;B;D;P|.	0.76494|.	0.42;0.999;0.42;0.999;0.42;0.996;0.999;0.42;0.48;0.264;0.999;0.264;0.999;0.48|.	B;D;B;D;B;P;P;B;B;B;P;B;D;B|.	0.65010|.	0.155;0.931;0.155;0.931;0.155;0.9;0.907;0.155;0.219;0.09;0.907;0.09;0.931;0.204|.	T|T	0.39722|0.39722	-0.9600|-0.9600	10|5	0.49607|.	T|.	0.09|.	-12.5533|-12.5533	9.6412|9.6412	0.39839|0.39839	0.6921:0.0:0.3079:0.0|0.6921:0.0:0.3079:0.0	.|.	670;516;670;638;638;516;638;638;638;638;638;638;638;638|.	C4P096;C4P094;E2QRA4;C4P0A3;C4P098;F5H1F1;C4P0A4;A6NLH2;C4P0B6;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3|.	.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.|.	N|T	638;638;638;670;516;638;638|41	ENSP00000403888:K638N;ENSP00000355596:K638N;ENSP00000443996:K638N;ENSP00000355593:K638N|.	ENSP00000355593:K638N|.	K|S	+|+	3|2	2|0	DISC1|DISC1	230020819|230020819	0.009000|0.009000	0.17119|0.17119	0.000000|0.000000	0.03702|0.03702	0.920000|0.920000	0.55202|0.55202	0.280000|0.280000	0.18790|0.18790	-0.160000|-0.160000	0.11002|0.11002	0.591000|0.591000	0.81541|0.81541	AAG|AGC		0.478	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		34	136	0	0	0	1	0	34	136				
NAPEPLD	222236	broad.mit.edu	37	7	102760563	102760563	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:102760563C>T	ENST00000417955.1	-	3	556	c.402G>A	c.(400-402)acG>acA	p.T134T	NAPEPLD_ENST00000427257.1_Silent_p.T134T|NAPEPLD_ENST00000341533.4_Silent_p.T134T|NAPEPLD_ENST00000465647.1_Silent_p.T134T|NAPEPLD_ENST00000455523.2_Silent_p.T207T			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	134					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCACCATTACCGTGGCATGTC	0.478																																						ENST00000417955.1																			0				endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(400-402)acG>acA		N-acyl phosphatidylethanolamine phospholipase D							145.0	116.0	125.0					7																	102760563		2203	4300	6503	SO:0001819	synonymous_variant	222236				phospholipid catabolic process	membrane	metal ion binding	g.chr7:102760563C>T	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.402G>A	7.37:g.102760563C>T						NAPEPLD_ENST00000455523.2_Silent_p.T207T|NAPEPLD_ENST00000465647.1_Silent_p.T134T|NAPEPLD_ENST00000341533.4_Silent_p.T134T|NAPEPLD_ENST00000427257.1_Silent_p.T134T	p.T134T			Q6IQ20	NAPEP_HUMAN			3	556	-			134					Q5CZ87|Q769K1	Silent	SNP	ENST00000417955.1	37	c.402G>A	CCDS5729.1																																																																																				0.478	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990		52	63	0	0	0	1	0	52	63				
SCUBE2	57758	broad.mit.edu	37	11	9074741	9074741	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:9074741G>T	ENST00000309263.3	-	12	1424	c.1352C>A	c.(1351-1353)aCa>aAa	p.T451K	SCUBE2_ENST00000520467.1_Missense_Mutation_p.T451K|SCUBE2_ENST00000457346.2_Missense_Mutation_p.T451K|SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	451						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGACACACTTGTGGGCAGGAG	0.532																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1351-1353)aCa>aAa		signal peptide, CUB domain, EGF-like 2							79.0	66.0	70.0					11																	9074741		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9074741G>T	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1352C>A	11.37:g.9074741G>T	ENSP00000310658:p.Thr451Lys					SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Missense_Mutation_p.T451K|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Missense_Mutation_p.T451K	p.T451K			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	12	1426	-			451					Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.1352C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.804|7.804	0.714178|0.714178	0.15306|0.15306	.|.	.|.	ENSG00000175356|ENSG00000175356	ENST00000519788|ENST00000457346;ENST00000309263;ENST00000520467	.|T;T;T	.|0.80123	.|-1.18;-1.27;-1.34	5.82|5.82	2.34|2.34	0.29019|0.29019	.|.	.|0.506253	.|0.23483	.|N	.|0.047697	T|T	0.61375|0.61375	0.2342|0.2342	N|N	0.19112|0.19112	0.55|0.55	0.25715|0.25715	N|N	0.98543|0.98543	.|B;B	.|0.22909	.|0.077;0.0	.|B;B	.|0.25614	.|0.062;0.002	T|T	0.44726|0.44726	-0.9309|-0.9309	5|10	.|0.06365	.|T	.|0.9	.|.	8.5661|8.5661	0.33540|0.33540	0.0:0.1917:0.4158:0.3924|0.0:0.1917:0.4158:0.3924	.|.	.|451;451	.|Q9NQ36-2;Q9NQ36	.|.;SCUB2_HUMAN	K|K	174|451	.|ENSP00000390481:T451K;ENSP00000310658:T451K;ENSP00000429969:T451K	.|ENSP00000310658:T451K	Q|T	-|-	1|2	0|0	SCUBE2|SCUBE2	9031317|9031317	0.597000|0.597000	0.26874|0.26874	0.975000|0.975000	0.42487|0.42487	0.957000|0.957000	0.61999|0.61999	1.025000|1.025000	0.30090|0.30090	0.740000|0.740000	0.32651|0.32651	0.561000|0.561000	0.74099|0.74099	CAA|ACA		0.532	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		34	5	1	0	2.48696e-23	1	3.09779e-23	34	5				
ZNF638	27332	broad.mit.edu	37	2	71653747	71653747	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:71653747A>T	ENST00000409544.1	+	24	5378	c.4748A>T	c.(4747-4749)aAg>aTg	p.K1583M	ZNF638_ENST00000409407.1_Missense_Mutation_p.K523M|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.K1583M	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1583	Poly-Lys.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAGAAGAAAAAGGGGAAAACT	0.418																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(4747-4749)aAg>aTg		zinc finger protein 638							97.0	96.0	96.0					2																	71653747		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71653747A>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4748A>T	2.37:g.71653747A>T	ENSP00000386433:p.Lys1583Met					ZNF638_ENST00000264447.4_Missense_Mutation_p.K1583M|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.K523M	p.K1583M	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			24	5378	+			1583			Poly-Lys.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.4748A>T	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401328	0.42613	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.49720	0.77;0.77;1.15	5.73	3.37	0.38596	.	0.268968	0.31976	N	0.006763	T	0.42040	0.1185	L	0.27053	0.805	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.55161	0.77;0.594	T	0.33752	-0.9856	10	0.56958	D	0.05	-5.4675	4.1102	0.10055	0.6873:0.0:0.1626:0.1502	.	1583;1583	Q14966-3;Q14966	.;ZN638_HUMAN	M	1583;1583;523;523	ENSP00000264447:K1583M;ENSP00000386433:K1583M;ENSP00000386813:K523M	ENSP00000264447:K1583M	K	+	2	0	ZNF638	71507255	0.998000	0.40836	0.882000	0.34594	0.464000	0.32679	1.918000	0.40006	0.452000	0.26830	0.533000	0.62120	AAG		0.418	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		10	44	0	0	0	1	0	10	44				
MDN1	23195	broad.mit.edu	37	6	90432736	90432736	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:90432736G>C	ENST00000369393.3	-	40	6020	c.5905C>G	c.(5905-5907)Cct>Gct	p.P1969A	MDN1_ENST00000428876.1_Missense_Mutation_p.P1969A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1969					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGCTGACCAGGATCATAACAC	0.468																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(5905-5907)Cct>Gct		MDN1, midasin homolog (yeast)							157.0	171.0	166.0					6																	90432736		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90432736G>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5905C>G	6.37:g.90432736G>C	ENSP00000358400:p.Pro1969Ala					MDN1_ENST00000428876.1_Missense_Mutation_p.P1969A	p.P1969A			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	40	6020	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1969					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.5905C>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000521	0.74818	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03717	3.83;3.83	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.03520	0.0101	L	0.43923	1.385	0.80722	D	1	B	0.32939	0.391	B	0.38954	0.286	T	0.56282	-0.8005	10	0.28530	T	0.3	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1969	Q9NU22	MDN1_HUMAN	A	1969	ENSP00000358400:P1969A;ENSP00000413970:P1969A	ENSP00000358400:P1969A	P	-	1	0	MDN1	90489457	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.737000	0.98831	2.937000	0.99478	0.650000	0.86243	CCT		0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			34	247	0	0	0	1	0	34	247				
COL22A1	169044	broad.mit.edu	37	8	139824130	139824130	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:139824130G>T	ENST00000303045.6	-	9	1807	c.1361C>A	c.(1360-1362)cCa>cAa	p.P454Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.P454Q	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	454	Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGTGGGGGTGGAGGTGGAGG	0.597										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1360-1362)cCa>cAa		collagen, type XXII, alpha 1							17.0	17.0	17.0					8																	139824130		2198	4276	6474	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139824130G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1361C>A	8.37:g.139824130G>T	ENSP00000303153:p.Pro454Gln	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.P454Q	p.P454Q	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		9	1807	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		454			Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1361C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	3.187	-0.166657	0.06461	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.88741	-2.42;-2.33	4.78	-5.11	0.02901	.	0.954592	0.08584	N	0.924142	T	0.75635	0.3876	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.59053	-0.7526	9	.	.	.	.	2.0594	0.03588	0.4981:0.1129:0.1601:0.2288	.	454	Q8NFW1	COMA1_HUMAN	Q	454	ENSP00000303153:P454Q;ENSP00000387655:P454Q	.	P	-	2	0	COL22A1	139893312	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-1.392000	0.02523	-0.641000	0.05487	0.549000	0.68633	CCA		0.597	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		11	9	1	0	3.86212e-05	1	4.1547e-05	11	9				
PPP2R1A	5518	broad.mit.edu	37	19	52715982	52715982	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:52715982C>T	ENST00000322088.6	+	5	605	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128W|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4W	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R183W(22)|p.R183G(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CATGGTGCGGCGGGCCGCAGC	0.617			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		24	Substitution - Missense(24)	p.R183W(22)|p.R183G(2)	ovary(16)|endometrium(4)|large_intestine(3)|pancreas(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(547-549)Cgg>Tgg		protein phosphatase 2, regulatory subunit A, alpha							69.0	57.0	61.0					19																	52715982		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715982C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.547C>T	19.37:g.52715982C>T	ENSP00000324804:p.Arg183Trp					PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128W|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4W	p.R183W	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	605	+			183			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.547C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360081	0.82353	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06528	3.29;3.29	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.114427	0.37136	N	0.002231	T	0.34193	0.0889	H	0.96333	3.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	T	0.40459	-0.9562	10	0.87932	D	0	-15.4468	10.2034	0.43099	0.1981:0.8019:0.0:0.0	.	128;183;183	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	W	173;103;183;128	ENSP00000324804:R183W;ENSP00000415067:R128W	ENSP00000324804:R183W	R	+	1	2	PPP2R1A	57407794	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.933000	0.63484	2.503000	0.84419	0.655000	0.94253	CGG		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		59	41	0	0	0	1	0	59	41				
CDH2	1000	broad.mit.edu	37	18	25585840	25585840	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr18:25585840C>A	ENST00000269141.3	-	6	1243	c.820G>T	c.(820-822)Ggg>Tgg	p.G274W	CDH2_ENST00000399380.3_Missense_Mutation_p.G243W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	274	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGAACTGTCCCATTCCAAACC	0.388																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(820-822)Ggg>Tgg		cadherin 2, type 1, N-cadherin (neuronal)							143.0	136.0	139.0					18																	25585840		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25585840C>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.820G>T	18.37:g.25585840C>A	ENSP00000269141:p.Gly274Trp					CDH2_ENST00000399380.3_Missense_Mutation_p.G243W	p.G274W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			6	1243	-			274			Cadherin 2.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.820G>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287516	0.80803	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.53640	0.61;0.61	5.54	5.54	0.83059	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	M	0.91406	3.205	0.80722	D	1	P;P	0.51351	0.944;0.814	P;B	0.55112	0.769;0.423	T	0.77338	-0.2625	10	0.72032	D	0.01	.	16.1298	0.81418	0.1342:0.8658:0.0:0.0	.	243;274	A8MWK3;P19022	.;CADH2_HUMAN	W	274;243	ENSP00000269141:G274W;ENSP00000382312:G243W	ENSP00000269141:G274W	G	-	1	0	CDH2	23839838	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.730000	0.68546	2.761000	0.94854	0.655000	0.94253	GGG		0.388	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		28	106	1	0	1.55811e-20	1	1.90734e-20	28	106				
PPP1R3F	89801	broad.mit.edu	37	X	49142813	49142813	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:49142813C>T	ENST00000055335.6	+	4	1677	c.1661C>T	c.(1660-1662)aCg>aTg	p.T554M	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.T225M|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.T208M	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	554					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GAGGAGATCACGCTGCACTAT	0.647																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(1660-1662)aCg>aTg		protein phosphatase 1, regulatory subunit 3F							23.0	20.0	21.0					X																	49142813		2201	4295	6496	SO:0001583	missense	89801					integral to membrane		g.chrX:49142813C>T		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1661C>T	X.37:g.49142813C>T	ENSP00000055335:p.Thr554Met					PPP1R3F_ENST00000438316.1_Missense_Mutation_p.T225M|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.T208M	p.T554M	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			4	1677	+	Ovarian(276;0.236)		554					A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	c.1661C>T	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262676	0.59431	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.68181	0.14;0.14;-0.31;0.14;0.14	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000020	T	0.73426	0.3585	L	0.32530	0.975	0.35106	D	0.765732	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.81335	-0.0979	10	0.87932	D	0	-2.5422	13.5798	0.61896	0.0:1.0:0.0:0.0	.	225;239;554	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	M	208;225;554;208;208	ENSP00000420687:T208M;ENSP00000415548:T225M;ENSP00000055335:T554M;ENSP00000417535:T208M;ENSP00000365359:T208M	ENSP00000055335:T554M	T	+	2	0	PPP1R3F	49029757	0.978000	0.34361	0.942000	0.38095	0.911000	0.54048	3.950000	0.56676	2.272000	0.75746	0.513000	0.50165	ACG		0.647	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		38	15	0	0	0	1	0	38	15				
PRSS58	136541	broad.mit.edu	37	7	141955417	141955417	+	Missense_Mutation	SNP	C	C	A	rs367758482		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:141955417C>A	ENST00000552471.1	-	2	436	c.117G>T	c.(115-117)ttG>ttT	p.L39F	PRSS58_ENST00000547058.2_Missense_Mutation_p.L39F			Q8IYP2	PRS58_HUMAN	protease, serine, 58	39	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CAGCGCAGGGCAAGTAGTCAG	0.483																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(115-117)ttG>ttT		protease, serine, 58		C	PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	83.0	81.0	82.0		117	3.1	1.0	7		82	0,8600		0,0,4300	no	missense	PRSS58	NM_001001317.3	22	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	39/242	141955417	1,13005	2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141955417C>A		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.117G>T	7.37:g.141955417C>A	ENSP00000446916:p.Leu39Phe					PRSS58_ENST00000547058.2_Missense_Mutation_p.L39F	p.L39F			Q8IYP2	PRS58_HUMAN			2	436	-			39			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.117G>T	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451648	0.63290	2.27E-4	0.0	ENSG00000258223	ENST00000547058;ENST00000552471	T;T	0.81247	-1.47;-1.47	5.0	3.11	0.35812	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.78660	0.4318	N	0.25060	0.705	0.29644	N	0.84449	D	0.71674	0.998	D	0.65874	0.939	T	0.70174	-0.4944	9	0.54805	T	0.06	.	5.3964	0.16271	0.3263:0.5779:0.0:0.0958	.	39	Q8IYP2	PRS58_HUMAN	F	39	ENSP00000447588:L39F;ENSP00000446916:L39F	ENSP00000307206:L39F	L	-	3	2	PRSS58	141601894	0.993000	0.37304	0.992000	0.48379	0.443000	0.32047	0.749000	0.26320	2.608000	0.88229	0.655000	0.94253	TTG		0.483	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		25	70	1	0	1.64293e-13	1	1.94414e-13	25	70				
COL27A1	85301	broad.mit.edu	37	9	117068960	117068960	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:117068960T>G	ENST00000356083.3	+	58	5490	c.5099T>G	c.(5098-5100)aTg>aGg	p.M1700R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1700	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GAGCAGAAGATGGTGGATGGT	0.607											OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5098-5100)aTg>aGg		collagen, type XXVII, alpha 1							38.0	41.0	40.0					9																	117068960		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117068960T>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5099T>G	9.37:g.117068960T>G	ENSP00000348385:p.Met1700Arg		OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1478		p.M1700R	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			58	5490	+			1700			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5099T>G	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.469232	0.63625	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.73047	-0.71	5.33	5.33	0.75918	Fibrillar collagen, C-terminal (3);	.	.	.	.	T	0.68320	0.2988	N	0.25890	0.77	0.53005	D	0.999961	P	0.49253	0.921	P	0.52159	0.691	T	0.71869	-0.4462	9	0.59425	D	0.04	.	13.2359	0.59969	0.0:0.0:0.0:1.0	.	1700	Q8IZC6	CORA1_HUMAN	R	1700;1707	ENSP00000348385:M1700R	ENSP00000348385:M1700R	M	+	2	0	COL27A1	116108781	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	7.662000	0.83803	1.994000	0.58287	0.533000	0.62120	ATG		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		8	39	0	0	0	1	0	8	39				
RIF1	55183	broad.mit.edu	37	2	152331526	152331526	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:152331526T>G	ENST00000243326.5	+	35	7843	c.7360T>G	c.(7360-7362)Tct>Gct	p.S2454A	RIF1_ENST00000430328.2_Missense_Mutation_p.S2428A|RIF1_ENST00000453091.2_Missense_Mutation_p.S2428A|RIF1_ENST00000444746.2_Missense_Mutation_p.S2454A|RIF1_ENST00000428287.2_Missense_Mutation_p.S2428A			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATGGCAAACTCTGTAATAAA	0.343																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(7360-7362)Tct>Gct		RAP1 interacting factor homolog (yeast)							65.0	65.0	65.0					2																	152331526		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152331526T>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.7360T>G	2.37:g.152331526T>G	ENSP00000243326:p.Ser2454Ala					RIF1_ENST00000428287.2_Missense_Mutation_p.S2428A|RIF1_ENST00000453091.2_Missense_Mutation_p.S2428A|RIF1_ENST00000444746.2_Missense_Mutation_p.S2454A|RIF1_ENST00000430328.2_Missense_Mutation_p.S2428A	p.S2454A			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	35	7843	+			2454			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.7360T>G	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460906	0.26248	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10477	2.87;2.89;2.89;2.87;2.89	5.72	4.55	0.56014	.	0.316641	0.39274	N	0.001411	T	0.09512	0.0234	L	0.27053	0.805	0.80722	D	1	B;B	0.26876	0.007;0.162	B;B	0.29942	0.019;0.109	T	0.14090	-1.0485	10	0.48119	T	0.1	-0.485	11.7951	0.52096	0.1319:0.0:0.0:0.8681	.	2454;2428	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	A	2454;2428;2428;2454;2428	ENSP00000390181:S2454A;ENSP00000414615:S2428A;ENSP00000415691:S2428A;ENSP00000243326:S2454A;ENSP00000416123:S2428A	ENSP00000243326:S2454A	S	+	1	0	RIF1	152039772	0.996000	0.38824	0.971000	0.41717	0.678000	0.39670	1.847000	0.39299	0.950000	0.37743	0.482000	0.46254	TCT		0.343	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			4	25	0	0	0	1	0	4	25				
ZNF780A	284323	broad.mit.edu	37	19	40581487	40581487	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:40581487G>A	ENST00000595687.2	-	6	1071	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	ZNF780A_ENST00000450241.2_Missense_Mutation_p.R254C|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R289C|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R288C|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R289C|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R254C(1)|p.R289C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTGCACCACGATTAAAGCCT	0.388																																						ENST00000450241.2																			2	Substitution - Missense(2)	p.R254C(1)|p.R289C(1)	lung(2)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(760-762)Cgt>Tgt		zinc finger protein 780A							186.0	185.0	186.0					19																	40581487		2203	4298	6501	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581487G>A	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.862C>T	19.37:g.40581487G>A	ENSP00000472189:p.Arg288Cys					ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R289C|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R288C|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R289C|ZNF780A_ENST00000595687.2_Missense_Mutation_p.R288C|AC005614.5_ENST00000595508.1_RNA	p.R254C			O75290	Z780A_HUMAN			6	1071	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		288					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.760C>T	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323956	0.60634	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.22134	1.97;1.97	1.92	1.92	0.25849	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34629	0.0904	L	0.49513	1.565	0.19775	N	0.999952	D;D	0.89917	1.0;1.0	D;D	0.68765	0.943;0.96	T	0.08534	-1.0717	9	0.35671	T	0.21	.	9.4146	0.38514	0.0:0.0:1.0:0.0	.	289;288	E9PB48;O75290	.;Z780A_HUMAN	C	288;289;288	ENSP00000400997:R289C;ENSP00000341507:R288C	ENSP00000341507:R288C	R	-	1	0	ZNF780A	45273327	0.000000	0.05858	0.153000	0.22517	0.776000	0.43924	-0.418000	0.07080	1.040000	0.40099	0.305000	0.20034	CGT		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		78	128	0	0	0	1	0	78	128				
CD55	1604	broad.mit.edu	37	1	207499029	207499029	+	Silent	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:207499029T>C	ENST00000367064.3	+	4	799	c.541T>C	c.(541-543)Tta>Cta	p.L181L	CD55_ENST00000367065.5_Silent_p.L181L|CD55_ENST00000391920.4_Silent_p.L181L|CD55_ENST00000367062.4_Silent_p.L181L|CD55_ENST00000314754.8_Silent_p.L181L|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000391921.4_Silent_p.L117L|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367063.2_Silent_p.L181L	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	181	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	AGGTGGCATATTATTTGGTGC	0.343																																						ENST00000367064.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(541-543)Tta>Cta		CD55 molecule, decay accelerating factor for complement (Cromer blood group)	Chloramphenicol(DB00446)						181.0	175.0	177.0					1																	207499029		2203	4300	6503	SO:0001819	synonymous_variant	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207499029T>C	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.541T>C	1.37:g.207499029T>C						CD55_ENST00000367067.4_3'UTR|CD55_ENST00000314754.8_Silent_p.L181L|CD55_ENST00000391921.4_Silent_p.L117L|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000391920.4_Silent_p.L181L|CD55_ENST00000367062.4_Silent_p.L181L|CD55_ENST00000367065.5_Silent_p.L181L|CD55_ENST00000367063.2_Silent_p.L181L	p.L181L	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN			4	799	+			181			Sushi 3.		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Silent	SNP	ENST00000367064.3	37	c.541T>C	CCDS31006.1																																																																																				0.343	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		18	53	0	0	0	1	0	18	53				
GDF6	392255	broad.mit.edu	37	8	97172606	97172606	+	Nonsense_Mutation	SNP	G	G	C	rs370658707		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:97172606G>C	ENST00000287020.5	-	1	414	c.315C>G	c.(313-315)taC>taG	p.Y105*		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	105					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CAGCGATGGAGTAAGTCCTGT	0.597																																						ENST00000287020.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(313-315)taC>taG		growth differentiation factor 6							106.0	113.0	111.0					8																	97172606		2203	4300	6503	SO:0001587	stop_gained	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97172606G>C		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.315C>G	8.37:g.97172606G>C	ENSP00000287020:p.Tyr105*						p.Y105*	NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN			1	414	-	Breast(36;2.67e-05)		105					Q6PI58	Nonsense_Mutation	SNP	ENST00000287020.5	37	c.315C>G	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	G	37	6.417053	0.97550	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	.	.	.	4.3	2.04	0.26737	.	0.087044	0.48286	D	0.000193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8495	0.41048	0.1933:0.0:0.8067:0.0	.	.	.	.	X	105	.	ENSP00000287020:Y105X	Y	-	3	2	GDF6	97241782	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.051000	0.49885	0.802000	0.34089	0.411000	0.27672	TAC		0.597	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		56	199	0	0	0	1	0	56	199				
MCEMP1	199675	broad.mit.edu	37	19	7743070	7743070	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:7743070C>T	ENST00000333598.3	+	3	719	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	C19orf59_ENST00000597445.1_Missense_Mutation_p.L46F|TRAPPC5_ENST00000596148.1_5'Flank|TRAPPC5_ENST00000426877.2_5'Flank|CTD-3214H19.16_ENST00000597959.1_5'Flank|TRAPPC5_ENST00000317378.5_5'Flank	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		89						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CCTGTACATCCTCCTGGCCCT	0.592											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333598.3																			0				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						c.(265-267)Ctc>Ttc		chromosome 19 open reading frame 59							128.0	116.0	120.0					19																	7743070		2203	4300	6503	SO:0001583	missense	199675					integral to membrane		g.chr19:7743070C>T																												ENST00000333598.3:c.265C>T	19.37:g.7743070C>T	ENSP00000329920:p.Leu89Phe		OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	C19orf59_ENST00000597445.1_Missense_Mutation_p.L46F	p.L89F	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN			3	719	+			89					Q8IX20	Missense_Mutation	SNP	ENST00000333598.3	37	c.265C>T	CCDS12183.1	.	.	.	.	.	.	.	.	.	.	C	7.121	0.577901	0.13686	.	.	ENSG00000183019	ENST00000333598	T	0.33865	1.39	3.94	1.76	0.24704	.	0.206931	0.24403	N	0.038827	T	0.21631	0.0521	N	0.20986	0.625	0.09310	N	0.999995	P	0.49253	0.921	B	0.41988	0.372	T	0.08889	-1.0700	10	0.44086	T	0.13	-13.2916	6.8038	0.23766	0.0:0.767:0.0:0.233	.	89	Q8IX19	MCEM1_HUMAN	F	89	ENSP00000329920:L89F	ENSP00000329920:L89F	L	+	1	0	C19orf59	7649070	0.015000	0.18098	0.040000	0.18447	0.018000	0.09664	0.244000	0.18124	0.398000	0.25338	0.561000	0.74099	CTC		0.592	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461248.1			31	188	0	0	0	1	0	31	188				
OR10J5	127385	broad.mit.edu	37	1	159505081	159505081	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:159505081G>A	ENST00000334857.2	-	1	761	c.717C>T	c.(715-717)acC>acT	p.T239T		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	239						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(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGGAGACACAGGTGGCAAAGG	0.478																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(715-717)acC>acT		olfactory receptor, family 10, subfamily J, member 5							90.0	88.0	88.0					1																	159505081		2203	4300	6503	SO:0001819	synonymous_variant	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505081G>A		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.717C>T	1.37:g.159505081G>A							p.T239T	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	761	-	all_hematologic(112;0.0429)		239					B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	c.717C>T	CCDS30910.1																																																																																				0.478	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		6	130	0	0	0	1	0	6	130				
LINGO2	158038	broad.mit.edu	37	9	27949585	27949585	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:27949585C>T	ENST00000379992.2	-	6	1534	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R362H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	362	LRRCT.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CCAGAGAAGGCGGCAGTCACA	0.547																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1084-1086)cGc>cAc		leucine rich repeat and Ig domain containing 2							39.0	38.0	38.0					9																	27949585		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949585C>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1085G>A	9.37:g.27949585C>T	ENSP00000369328:p.Arg362His					LINGO2_ENST00000308675.3_Missense_Mutation_p.R362H	p.R362H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1534	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	362			LRRCT.		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1085G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052619	0.75960	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.80033	-1.33;-1.33	6.16	6.16	0.99307	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87589	0.6215	L	0.46614	1.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84553	0.0645	9	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	362	Q7L985	LIGO2_HUMAN	H	362	ENSP00000369328:R362H;ENSP00000310126:R362H	.	R	-	2	0	LINGO2	27939585	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGC		0.547	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		33	6	0	0	0	1	0	33	6				
LINC01410	103352539	broad.mit.edu	37	9	66457330	66457330	+	lincRNA	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:66457330G>T	ENST00000424345.1	+	0	42				RNA5SP283_ENST00000365604.1_RNA																							cagcgacagagccttggagag	0.632																																						ENST00000424345.1																			0																																																			0							g.chr9:66457330G>T																													9.37:g.66457330G>T														0	42	+									RNA	SNP	ENST00000424345.1	37																																																																																						0.632	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			3	7	1	0	0.004672	1	0.00487812	3	7				
HES4	57801	broad.mit.edu	37	1	931722	931722	+	IGR	DEL	G	G	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:931722delG	ENST00000304952.6	-	0	899				RP11-54O7.17_ENST00000606034.1_lincRNA			Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGCCCCCCCGCGGGAAGAGG	0.697																																						ENST00000606034.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr1:931722delG	BC012351	CCDS5.1, CCDS44034.1	1p36	2013-10-17	2013-10-17		ENSG00000188290	ENSG00000188290		"""Basic helix-loop-helix proteins"""	24149	protein-coding gene	gene with protein product		608060	"""hairy and enhancer of split 4 (Drosophila)"""			11260262, 15254753	Standard	NM_021170		Approved	bHLHb42	uc001aci.2	Q9HCC6	OTTHUMG00000040758		1.37:g.931722delG														0	1709	-								Q5SVA5	RNA	DEL	ENST00000304952.6	37		CCDS5.1																																																																																				0.697	HES4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097944.1	NM_021170		2	4						2	4	---	---	---	---
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs147310450|rs141096512|rs58784721	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485														1607	0.320887	0.3389	0.366	5008	,	,		16526	0.1716		0.3738	False		,,,				2504	0.364					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721722_17721723delGA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721724_17721725delGA										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1545	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.485	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		5	5						5	5	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142672518	142672519	+	lincRNA	DEL	AT	AT	-	rs377741124		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:142672518_142672519delAT	ENST00000610091.1	-	0	3560																											ggcctcactgatcaggTTCCAC	0.584																																						ENST00000369381.2																			0																																																			0							g.chr1:142672518_142672519delAT																													1.37:g.142672518_142672519delAT														0	2507	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.584	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			2	4						2	4	---	---	---	---
LINC00869	57234	broad.mit.edu	37	1	149285546	149285547	+	lincRNA	INS	-	-	A	rs144216017|rs386368278|rs386368277|rs386368276		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:149285546_149285547insA	ENST00000433084.1	+	0	0				RNU1-143P_ENST00000516296.1_RNA|RP11-403I13.7_ENST00000424684.1_lincRNA																							ttctgtctctcaaaaaaaaTGC	0.525																																						ENST00000424684.1																			0																																																			0							g.chr1:149285546_149285547insA																													1.37:g.149285554_149285554dupA								NR_046136.1|NR_046138.1|NR_046139.1						0	254	+									RNA	INS	ENST00000433084.1	37																																																																																						0.525	RP11-403I13.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000099633.1			5	6						5	6	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154842200	154842202	+	In_Frame_Del	DEL	GCT	GCT	-	rs58327065|rs367921715|rs572995536	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:154842200_154842202delGCT	ENST00000271915.4	-	1	554_556	c.239_241delAGC	c.(238-243)cagcca>cca	p.Q80del	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGATGCGGTGgctgctgctgctg	0.7																																						ENST00000271915.3																			2	Insertion - In frame(2)	p.Q80_P81insQQ(2)	prostate(2)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(238-243)cca>c		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154842200_154842202delGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.239_241delAGC	1.37:g.154842209_154842211delGCT	ENSP00000271915:p.Gln80del						p.QP80del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	554_556	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.239_241delAGC	CCDS30880.1																																																																																				0.700	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		7	30						7	30	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235955054	235955055	+	Frame_Shift_Ins	INS	-	-	TTTT			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:235955054_235955055insTTTT	ENST00000389794.3	-	12	4661_4662	c.4487_4488insAAAA	c.(4486-4488)aagfs	p.K1496fs	LYST_ENST00000536965.1_Intron|LYST_ENST00000389793.2_Frame_Shift_Ins_p.K1496fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1496					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTTCTTTATCTTCTTTCCTTT	0.361																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(4486-4488)aatfs		lysosomal trafficking regulator																																				SO:0001589	frameshift_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235955054_235955055insTTTT	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4487_4488insAAAA	1.37:g.235955054_235955055insTTTT	ENSP00000374444:p.Lys1496fs					LYST_ENST00000389793.2_Frame_Shift_Ins_p.N1496fs|LYST_ENST00000536965.1_Intron	p.N1496fs			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		12	4661_4662	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1496					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Ins	INS	ENST00000389794.3	37	c.4487_4488insAAAA	CCDS31062.1																																																																																				0.361	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			80	53						80	53	---	---	---	---
CPA3	1359	broad.mit.edu	37	3	148582959	148582960	+	5'Flank	INS	-	-	A	rs143382113		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:148582959_148582960insA	ENST00000296046.3	+	0	0				RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)						angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCTCCAGCTGGAAAAAAAAAAC	0.436																																						ENST00000488190.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:148582959_148582960insA		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526		3.37:g.148582969_148582969dupA	Exception_encountered													0	304	-								Q96E94	RNA	INS	ENST00000296046.3	37		CCDS3138.1																																																																																				0.436	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		3	3						3	3	---	---	---	---
SLC10A6	345274	broad.mit.edu	37	4	87769940	87769941	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:87769940_87769941insT	ENST00000273905.6	-	1	475_476	c.328_329insA	c.(328-330)accfs	p.T110fs	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	110					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GTTAGAGATGGTGCCCCCCGGG	0.515																																						ENST00000273905.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(328-330)catfs		solute carrier family 10 (sodium/bile acid cotransporter), member 6																																				SO:0001589	frameshift_variant	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87769940_87769941insT	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.329dupA	4.37:g.87769941_87769941dupT	ENSP00000273905:p.Thr110fs					SLC10A6_ENST00000505535.1_5'UTR	p.H110fs	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	1	475_476	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	110					Q70EX7	Frame_Shift_Ins	INS	ENST00000273905.6	37	c.328_329insA	CCDS3614.1																																																																																				0.515	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		61	33						61	33	---	---	---	---
LINC00616	641365	broad.mit.edu	37	4	138978086	138978095	+	lincRNA	DEL	CTTGCAGGAA	CTTGCAGGAA	-	rs67079742|rs58141158	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:138978086_138978095delCTTGCAGGAA	ENST00000514600.1	-	0	870				SLC7A11-AS1_ENST00000510066.1_RNA	NR_037866.1				long intergenic non-protein coding RNA 616																		GCAGAAAACTCTTGCAGGAACTTGCAGGAA	0.543														1265	0.252596	0.1286	0.3256	5008	,	,		19774	0.1637		0.3867	False		,,,				2504	0.3221					ENST00000514600.1																			0																																																			0							g.chr4:138978086_138978095delCTTGCAGGAA			4q28.3	2012-10-12			ENSG00000248307	ENSG00000248307		"""Long non-coding RNAs"""	44065	non-coding RNA	RNA, long non-coding							Standard	NR_037866		Approved		uc003ihh.3		OTTHUMG00000161281		4.37:g.138978096_138978105delCTTGCAGGAA								NR_037866.1						0	870	-									RNA	DEL	ENST00000514600.1	37																																																																																						0.543	LINC00616-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000364373.1	NR_037866		4	2						4	2	---	---	---	---
RP11-371F15.3	0	broad.mit.edu	37	4	139905238	139905238	+	RNA	DEL	T	T	-	rs367980793		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:139905238delT	ENST00000511951.1	-	0	161																											acccttctcattttttttttt	0.463																																						ENST00000511951.1																			0																																																			0							g.chr4:139905238delT																													4.37:g.139905238delT														0	161	-									RNA	DEL	ENST00000511951.1	37																																																																																						0.463	RP11-371F15.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000366072.1			3	4						3	4	---	---	---	---
RP11-161D15.2	0	broad.mit.edu	37	4	174817851	174817851	+	lincRNA	DEL	T	T	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:174817851delT	ENST00000502956.1	-	0	470				RP11-161D15.1_ENST00000509968.1_lincRNA																							CAGCACAGCCTTTCATTCCTG	0.468																																						ENST00000502956.1																			0																																																			0							g.chr4:174817851delT																													4.37:g.174817851delT														0	470	-									RNA	DEL	ENST00000502956.1	37																																																																																						0.468	RP11-161D15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000362023.1			2	4						2	4	---	---	---	---
RP11-420L9.4	0	broad.mit.edu	37	6	3833660	3833661	+	RNA	DEL	GT	GT	-	rs145782566	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:3833660_3833661delGT	ENST00000602854.1	+	0	79																											aaccaggaccgtgtgtgtgTGG	0.441																																						ENST00000602854.1																			0																																																			0							g.chr6:3833660_3833661delGT																													6.37:g.3833668_3833669delGT														0	79	+									RNA	DEL	ENST00000602854.1	37																																																																																						0.441	RP11-420L9.4-003	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000467396.1			2	4						2	4	---	---	---	---
AKAP12	9590	broad.mit.edu	37	6	151670243	151670244	+	Frame_Shift_Ins	INS	-	-	T	rs552053449		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:151670243_151670244insT	ENST00000253332.1	+	3	906_907	c.717_718insT	c.(718-720)gaafs	p.E240fs	snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000402676.2_Frame_Shift_Ins_p.E240fs|AKAP12_ENST00000354675.6_Frame_Shift_Ins_p.E142fs|AKAP12_ENST00000359755.5_Frame_Shift_Ins_p.E135fs			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	240			E -> K (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.E240K(2)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CAGAGAAACCCGAAGAGACCCT	0.559																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			2	Substitution - Missense(2)	p.E240K(2)	large_intestine(2)	breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(715-720)ccaagafs		A kinase (PRKA) anchor protein 12																																				SO:0001589	frameshift_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151670243_151670244insT	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	Exception_encountered	6.37:g.151670243_151670244insT	ENSP00000253332:p.Glu240fs					AKAP12_ENST00000253332.1_Frame_Shift_Ins_p.R240fs|AKAP12_ENST00000354675.6_Frame_Shift_Ins_p.R142fs|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000359755.5_Frame_Shift_Ins_p.R135fs	p.R240fs	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	957_958	+		Ovarian(120;0.125)	240		E -> K (in a colorectal cancer sample; somatic mutation).			O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Frame_Shift_Ins	INS	ENST00000253332.1	37	c.717_718insT	CCDS5229.1																																																																																				0.559	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			25	245						25	245	---	---	---	---
MAP3K4	4216	broad.mit.edu	37	6	161507690	161507691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:161507690_161507691insT	ENST00000392142.4	+	9	2695_2696	c.2547_2548insT	c.(2548-2550)tatfs	p.Y850fs	MAP3K4_ENST00000348824.7_Frame_Shift_Ins_p.Y850fs|MAP3K4_ENST00000366919.2_Frame_Shift_Ins_p.Y850fs|MAP3K4_ENST00000366920.2_Frame_Shift_Ins_p.Y850fs	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	850					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AATCAAAACAGTATGTCAAGGT	0.381																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(2545-2550)caatgtfs		mitogen-activated protein kinase kinase kinase 4																																				SO:0001589	frameshift_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161507690_161507691insT	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2548dupT	6.37:g.161507691_161507691dupT	ENSP00000375986:p.Tyr850fs					MAP3K4_ENST00000366920.2_Frame_Shift_Ins_p.QC849fs|MAP3K4_ENST00000366919.2_Frame_Shift_Ins_p.QC849fs|MAP3K4_ENST00000348824.7_Frame_Shift_Ins_p.QC849fs	p.QC849fs	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	9	2695_2696	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	849					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Frame_Shift_Ins	INS	ENST00000392142.4	37	c.2547_2548insT	CCDS34565.1																																																																																				0.381	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			19	29						19	29	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100373941	100373948	+	RNA	DEL	AGGGAGGG	AGGGAGGG	-	rs199614623|rs3991185	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:100373941_100373948delAGGGAGGG	ENST00000348028.3	+	0	6356				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			actTGAaggaagggagggagggagggag	0.553														1320	0.263578	0.18	0.2622	5008	,	,		13263	0.2788		0.334	False		,,,				2504	0.2894					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100373941_100373948delAGGGAGGG	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100373949_100373956delAGGGAGGG						ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	6337	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.553	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	3						3	3	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(82-90)ccc>cc		podocalyxin-like																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del					PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron	p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	341_346	-	Melanoma(18;0.162)		28					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		5	7						5	7	---	---	---	---
ERICH1-AS1	619343	broad.mit.edu	37	8	844731	844732	+	RNA	INS	-	-	G	rs370162676		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:844731_844732insG	ENST00000524139.1	+	0	151				ERICH1-AS1_ENST00000578889.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA|ERICH1-AS1_ENST00000577187.1_RNA			P0C838	ERAS1_HUMAN	ERICH1 antisense RNA 1																		GGTGGCTGGCAGGGCAGGGTGG	0.713																																						ENST00000524139.1																			0																																																			0							g.chr8:844731_844732insG	BC022082, BC038783		8p23.3	2012-10-12	2012-08-15	2012-04-16	ENSG00000237647	ENSG00000237647		"""Long non-coding RNAs"""	32290	non-coding RNA	RNA, long non-coding			"""chromosome 8 open reading frame 68"", ""ERICH1 antisense RNA 1 (non-protein coding)"""	C8orf68			Standard	NR_073397		Approved		uc003wpj.2	P0C838	OTTHUMG00000163635		8.37:g.844734_844734dupG						ERICH1-AS1_ENST00000522092.1_RNA|ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000578889.1_RNA								0	151	+									RNA	INS	ENST00000524139.1	37																																																																																						0.713	ERICH1-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000374625.1			2	4						2	4	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100887728	100887728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:100887728delC	ENST00000358544.2	+	62	12014	c.11903delC	c.(11902-11904)gccfs	p.A3968fs	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.A3943fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3968					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGTCACCTGGCCCCCAGCTGT	0.478																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(11902-11904)gcfs		vacuolar protein sorting 13 homolog B (yeast)							156.0	138.0	144.0					8																	100887728		2203	4300	6503	SO:0001589	frameshift_variant	157680				protein transport			g.chr8:100887728delC	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11903delC	8.37:g.100887728delC	ENSP00000351346:p.Ala3968fs					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.A3943fs	p.A3968fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		62	12014	+	Breast(36;3.73e-07)		3968					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Del	DEL	ENST00000358544.2	37	c.11903delC	CCDS6280.1																																																																																				0.478	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		29	123						29	123	---	---	---	---
WNK2	65268	broad.mit.edu	37	9	96021235	96021245	+	Frame_Shift_Del	DEL	CCCCCATCACG	CCCCCATCACG	-	rs149576658		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:96021235_96021245delCCCCCATCACG	ENST00000297954.4	+	11	2405_2415	c.2405_2415delCCCCCATCACG	c.(2404-2415)ccccccatcacgfs	p.PPIT802fs	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Frame_Shift_Del_p.PPIT414fs|WNK2_ENST00000349097.3_Frame_Shift_Del_p.PPIT414fs|WNK2_ENST00000395477.2_Frame_Shift_Del_p.PPIT802fs|WNK2_ENST00000395475.2_Frame_Shift_Del_p.PPIT736fs	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	802					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTGTTGTGCCCCCCATCACGCCCCTGGCGG	0.649																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(2404-2415)cfs		WNK lysine deficient protein kinase 2																																				SO:0001589	frameshift_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96021235_96021245delCCCCCATCACG	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.2405_2415delCCCCCATCACG	9.37:g.96021235_96021245delCCCCCATCACG	ENSP00000297954:p.Pro802fs					WNK2_ENST00000349097.3_Frame_Shift_Del_p.PPIT414fs|WNK2_ENST00000427277.2_Frame_Shift_Del_p.PPIT414fs|WNK2_ENST00000395475.2_Frame_Shift_Del_p.PPIT736fs|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Frame_Shift_Del_p.PPIT802fs	p.PPIT802fs			Q9Y3S1	WNK2_HUMAN			11	2405_2415	+			802					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Frame_Shift_Del	DEL	ENST00000297954.4	37	c.2405_2415delCCCCCATCACG																																																																																					0.649	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		13	33						13	33	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(505-510)del		forkhead box E1 (thyroid transcription factor 2)																																				SO:0001651	inframe_deletion	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100616701_100616706delGCCGCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.505_510delGCCGCC	9.37:g.100616707_100616712delGCCGCC	ENSP00000364265:p.Ala177_Ala178del						p.AA177del	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1166_1171	+		Acute lymphoblastic leukemia(62;0.158)	177			Ala-rich.|Poly-Ala.		O75765|Q5T109|Q99526	In_Frame_Del	DEL	ENST00000375123.3	37	c.505_510delGCCGCC	CCDS35078.1																																																																																				0.767	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			9	16						9	16	---	---	---	---
DNAJC4	3338	broad.mit.edu	37	11	63997567	63997567	+	5'Flank	DEL	A	A	-	rs10708923|rs63552063	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:63997567delA	ENST00000321685.3	+	0	0				RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321460.5_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000355040.4_5'Flank	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4						protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						GTGACTTGGGAAAAAAAAAAA	0.498													|||unknown(HR)	2125	0.424321	0.4319	0.3833	5008	,	,		15038	0.4623		0.3926	False		,,,				2504	0.4366					ENST00000534988.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr11:63997567delA	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792		11.37:g.63997567delA	Exception_encountered													0	99	-								O14716	RNA	DEL	ENST00000321685.3	37		CCDS41666.1																																																																																				0.498	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			4	8						4	8	---	---	---	---
FLJ41278	400046	broad.mit.edu	37	12	65320679	65320679	+	lincRNA	DEL	A	A	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:65320679delA	ENST00000510459.2	-	0	221				RP11-766N7.3_ENST00000535058.1_lincRNA																							ttttaatcataaagcaatgct	0.313																																						ENST00000535058.1																			0																																																			0							g.chr12:65320679delA																													12.37:g.65320679delA						RP11-766N7.4_ENST00000510459.2_lincRNA		NR_033988.1						0	594	+									RNA	DEL	ENST00000510459.2	37																																																																																						0.313	RP11-766N7.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000401255.1			2	4						2	4	---	---	---	---
LINC01476	101927728	broad.mit.edu	37	17	57577837	57577837	+	lincRNA	DEL	G	G	-	rs573768459|rs60239841	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:57577837delG	ENST00000584262.1	-	0	583																											ggagggagatgggggggggtc	0.761													|||unknown(ALL_OTHER_Ns)	3060	0.611022	0.8676	0.5144	5008	,	,		8075	0.6637		0.3579	False		,,,				2504	0.5389					ENST00000584262.1																			0																																																			0							g.chr17:57577837delG																													17.37:g.57577837delG														0	583	-									RNA	DEL	ENST00000584262.1	37																																																																																						0.761	RP11-567L7.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000446039.1			4	2						4	2	---	---	---	---
RP11-101O21.1	0	broad.mit.edu	37	17	72067564	72067564	+	lincRNA	DEL	A	A	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:72067564delA	ENST00000584003.1	-	0	515																											AGCAGGAGGGAATGATCACAT	0.572																																						ENST00000584003.1																			0																																																			0							g.chr17:72067564delA																													17.37:g.72067564delA														0	515	-									RNA	DEL	ENST00000584003.1	37																																																																																						0.572	RP11-101O21.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000442530.1			2	4						2	4	---	---	---	---
LOC101928710	101928710	broad.mit.edu	37	17	76618042	76618043	+	lincRNA	INS	-	-	C	rs77360048|rs386386725|rs386386724	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:76618042_76618043insC	ENST00000586185.1	-	0	594																											ACCTCCCCAGGCCAGGATGCCC	0.619													CCC|CC|CCC|deletion	3006	0.60024	0.5469	0.5274	5008	,	,		18237	0.744		0.5298	False		,,,				2504	0.6483					ENST00000586185.1																			0																																																			0							g.chr17:76618042_76618043insC																													17.37:g.76618044_76618044dupC														0	594	-									RNA	INS	ENST00000586185.1	37																																																																																						0.619	CTD-2357A8.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000438825.1			6	0						6	0	---	---	---	---
AATK-AS1	388428	broad.mit.edu	37	17	79143787	79143788	+	RNA	DEL	TG	TG	-	rs145155506|rs565670299|rs552585922|rs367635256	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:79143787_79143788delTG	ENST00000414089.1	+	0	409				AATK-AS1_ENST00000571031.1_RNA	NR_027255.1				AATK antisense RNA 1																		tgtgtgtgcatgtgtgtgtgtt	0.465																																						ENST00000414089.1																			0																																																			0							g.chr17:79143787_79143788delTG			17q25.3	2012-10-12	2012-08-15		ENSG00000225180	ENSG00000225180		"""Long non-coding RNAs"""	40053	non-coding RNA	RNA, long non-coding			"""AATK antisense RNA 1 (non-protein coding)"""				Standard	NR_027255		Approved		uc010wuk.1		OTTHUMG00000150182		17.37:g.79143795_79143796delTG						AATK-AS1_ENST00000571031.1_RNA		NR_027255.1						0	409	+									RNA	DEL	ENST00000414089.1	37																																																																																						0.465	AATK-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000316740.1			7	1						7	1	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46320139	46320139	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:46320139delG	ENST00000245934.7	-	24	3419	c.3175delC	c.(3175-3177)cagfs	p.Q1060fs	SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000221538.3_5'Flank|RSPH6A_ENST00000597055.1_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1060					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCCAGCTGCTGGGGCGGCAGC	0.652											OREG0025562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(3175-3177)agfs		symplekin							18.0	18.0	18.0					19																	46320139		2156	4216	6372	SO:0001589	frameshift_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46320139delG	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3175delC	19.37:g.46320139delG	ENSP00000245934:p.Gln1060fs		OREG0025562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	SYMPK_ENST00000598155.1_5'UTR	p.Q1060fs	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	24	3419	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	1060					O00521|O00689|O00733|Q59GT5|Q8N2U5	Frame_Shift_Del	DEL	ENST00000245934.7	37	c.3175delC	CCDS12676.2																																																																																				0.652	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		2	4						2	4	---	---	---	---
PLEKHA4	57664	broad.mit.edu	37	19	49362194	49362200	+	Frame_Shift_Del	DEL	GGCGGGG	GGCGGGG	-	rs200046215		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:49362194_49362200delGGCGGGG	ENST00000263265.6	-	8	1444_1450	c.889_895delCCCCGCC	c.(889-897)ccccgccgafs	p.PRR297fs	PLEKHA4_ENST00000355496.5_Frame_Shift_Del_p.PRR297fs|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	297	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGAGGTCCTCGGCGGGGAGTAGGGGGT	0.662																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(889-897)gafs		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4																																				SO:0001589	frameshift_variant	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49362194_49362200delGGCGGGG	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.889_895delCCCCGCC	19.37:g.49362194_49362200delGGCGGGG	ENSP00000263265:p.Pro297fs					PLEKHA4_ENST00000355496.5_Frame_Shift_Del_p.PRR297fs|PLEKHA4_ENST00000596713.1_5'UTR	p.PRR297fs	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	8	1444_1450	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	297			Pro-rich.		Q8N4M8|Q8N658	Frame_Shift_Del	DEL	ENST00000263265.6	37	c.889_895delCCCCGCC	CCDS12737.1																																																																																				0.662	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			29	103						29	103	---	---	---	---
ESF1	51575	broad.mit.edu	37	20	13695536	13695537	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr20:13695536_13695537insT	ENST00000202816.1	-	14	2647_2648	c.2540_2541insA	c.(2539-2541)aagfs	p.K847fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	847	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TGACTTTTTGCTTTTTTCTTGC	0.302																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(2539-2541)acafs		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13695536_13695537insT		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2541dupA	20.37:g.13695542_13695542dupT	ENSP00000202816:p.Lys847fs						p.T847fs	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			14	2647_2648	-			847			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Frame_Shift_Ins	INS	ENST00000202816.1	37	c.2540_2541insA	CCDS13117.1																																																																																				0.302	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		24	13						24	13	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11073982	11073982	+	RNA	DEL	T	T	-	rs58848388	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr21:11073982delT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aaataactgcttttttcatgg	0.274													|||unknown(ALL_OTHER_Ns)	2470	0.493211	0.4939	0.4928	5008	,	,		81459	0.4831		0.498	False		,,,				2504	0.498					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11073982delT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11073982delT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.274	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
LTN1	26046	broad.mit.edu	37	21	30302792	30302799	+	Frame_Shift_Del	DEL	AGTGGACA	AGTGGACA	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr21:30302792_30302799delAGTGGACA	ENST00000361371.5	-	30	5351_5358	c.5272_5279delTGTCCACT	c.(5272-5280)tgtccactgfs	p.CPL1758fs	LTN1_ENST00000389194.2_Frame_Shift_Del_p.CPL1804fs			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1758					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CTCACGACACAGTGGACAAGTGGATTTG	0.361																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(5272-5280)gfs		listerin E3 ubiquitin protein ligase 1																																				SO:0001589	frameshift_variant	26046						ligase activity|zinc ion binding	g.chr21:30302792_30302799delAGTGGACA	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.5272_5279delTGTCCACT	21.37:g.30302792_30302799delAGTGGACA	ENSP00000354977:p.Cys1758fs					LTN1_ENST00000389194.2_Frame_Shift_Del_p.CPL1804fs	p.CPL1758fs	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			30	5422_5429	-			1758					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Frame_Shift_Del	DEL	ENST00000361371.5	37	c.5272_5279delTGTCCACT																																																																																					0.361	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		22	58						22	58	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr22:20918793_20918795delCAG	ENST00000263205.7	+	6	577_579	c.508_510delCAG	c.(508-510)cagdel	p.Q174del	MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	174	Poly-Gln.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(508-510)del		mediator complex subunit 15			,	5,56,4109		0,0,5,0,56,2024					,	3.4	1.0			20	7,128,7953		0,0,7,0,128,3909	no	codingComplex,codingComplex	MED15	NM_015889.3,NM_001003891.1	,	0,0,12,0,184,5933	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6691,1.4628,1.599	,	,		12,184,12062				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918793_20918795delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.508_510delCAG	22.37:g.20918802_20918804delCAG	ENSP00000263205:p.Gln174del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000542773.1_5'UTR|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del	p.Q174del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	577_579	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	174			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.508_510delCAG	CCDS33602.1																																																																																				0.616	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		7	98						7	98	---	---	---	---
