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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CR1L	1379	broad.mit.edu	37	1	207818635	207818635	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:207818635G>C	uc001hga.4	+	0	178	c.57G>C	c.(55-57)ttG>ttC	p.L19F	CR1L_uc001hfz.2_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	19						cytoplasm|extracellular region|membrane		p.L19F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTCCTGGGTTGCTTCTGGCGG	0.667000													3	80					0	0	1	0	0
PSMG2	56984	broad.mit.edu	37	18	12706677	12706677	+	Silent	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr18:12706677G>T	uc002krk.3	+	1	306	c.186G>T	c.(184-186)gcG>gcT	p.A62A	PSMG2_uc002krg.3_Silent_p.A31A|PSMG2_uc002krj.2_Silent_p.A62A	NM_020232	NP_671692	Q969U7	PSMG2_HUMAN	Homo sapiens proteasome (prosome, macropain) assembly chaperone 2 (PSMG2), transcript variant 1, mRNA.	62					proteasome assembly	nucleus	protein binding	p.A62A(2)		lung(1)|prostate(2)|skin(1)	4						ATCCATATGCGACCACAGAAG	0.348000													48	50					0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910838	14910838	+	Silent	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14910838G>C	uc010xnz.2	-	0	111	c.111C>G	c.(109-111)gtC>gtG	p.V37V		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	37					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.V37V(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CGGTGAAAGTGACTAGGTACA	0.493000													6	144					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081085	54081085	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:54081085G>A	uc021vhn.1	-	0	809	c.809C>T	c.(808-810)gCt>gTt	p.A270V	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Missense_Mutation_p.A270V	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	270						integral to plasma membrane	G-protein coupled receptor activity	p.A270V(2)|p.P269A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCTATACAGAGCCGGCATGGC	0.557000													3	80					0	0	1	0	0
NAA20	51126	broad.mit.edu	37	20	20013297	20013297	+	Splice_Site	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:20013297G>A	uc002wrp.3	+	5	558	c.451_splice	c.e5+1	p.D151_splice	NAA20_uc002wrq.3_Intron|NAA20_uc002wrr.3_Splice_Site_p.D139_splice	NM_016100	NP_057184	P61599	NAA20_HUMAN	Homo sapiens N(alpha)-acetyltransferase 20, NatB catalytic subunit (NAA20), transcript variant 1, mRNA.	151	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	p.D151N(1)		endometrium(3)|lung(2)|prostate(1)	6						GGACGCTTATGGTAAGCTCCC	0.408000													10	77					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537038	5537038	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:5537038A>T	uc001maz.4	-	0	919	c.634T>A	c.(634-636)Tcc>Acc	p.S212T	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	212								p.S212T(2)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGAAGGCGGGAAACTTCTGGG	0.468000													9	287					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510672	5510672	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:5510672T>G	uc010qzg.2	+	0	758	c.736T>G	c.(736-738)Tcc>Gcc	p.S246A	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S246A(2)|p.S246S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCTGTGGCTCCCACATTGG	0.498000													7	184					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49666128	49666128	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:49666128C>G	uc003ozn.2	-	6	600	c.364G>C	c.(364-366)Gtc>Ctc	p.V122L	CRISP2_uc003ozr.2_Missense_Mutation_p.V122L|CRISP2_uc003ozo.2_Missense_Mutation_p.V122L|CRISP2_uc003ozm.2_Missense_Mutation_p.V122L|CRISP2_uc003ozp.2_Missense_Mutation_p.V122L|CRISP2_uc003ozq.2_Missense_Mutation_p.V122L|CRISP2_uc003ozl.2_Missense_Mutation_p.V122L	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	122						extracellular space		p.V122L(2)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACACCATAGACAAAATCTAGG	0.413000													4	182					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598086	62598086	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:62598086C>T	uc002yhl.1	-	4	496	c.442G>A	c.(442-444)Gca>Aca	p.A148T		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A148T(4)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAGGTGAATGCGGCCTCGCAG	0.647000													3	60					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48769758	48769758	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:48769758C>A	uc003xqi.3	-	49	6622	c.6565G>T	c.(6565-6567)Gtg>Ttg	p.V2189L	PRKDC_uc003xqj.3_Missense_Mutation_p.V2189L	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2190					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.V2189L(1)|p.V2190L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATAGTGGCCACTATCTCAACC	0.458000								Non-homologous end-joining					5	24					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90411737	90411737	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:90411737G>A	uc003pnn.1	-	53	8308	c.8192C>T	c.(8191-8193)gCc>gTc	p.A2731V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2731					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			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)		TACTGTGTCGGCCACAGTCCA	0.488000													3	53					0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66919043	66919043	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:66919043G>A	uc021tjw.1	+	0	856	c.856G>A	c.(856-858)Gac>Aac	p.D286N	PDP2_uc002eqk.2_Missense_Mutation_p.D286N	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	286					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	p.D286N(2)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AAATGCTGGTGACTGCCGAGC	0.557000													14	70					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955603	18955603	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:18955603G>T	uc001mpg.3	-	0	947	c.729C>A	c.(727-729)caC>caA	p.H243Q		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	243					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H243Q(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCTGTCCACGTGGATCCATA	0.478000													12	126					0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751543	26751543	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:26751543G>C	uc003cdp.3	+	1	969	c.380G>C	c.(379-381)aGt>aCt	p.S127T	LRRC3B_uc003cdq.3_Missense_Mutation_p.S127T|LRRC3B_uc021wuj.1_Missense_Mutation_p.S127T	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	127						integral to membrane		p.S127T(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CGGATTCAAAGTGTGCACAAA	0.478000													25	43					0	0	1	0	0
C3orf23	285343	broad.mit.edu	37	3	44399287	44399287	+	Silent	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:44399287G>C	uc003cnd.4	+	2	511	c.84G>C	c.(82-84)tcG>tcC	p.S28S	C3orf23_uc010him.3_Silent_p.S28S|C3orf23_uc003cne.4_5'UTR|C3orf23_uc003cnb.4_Silent_p.S28S|C3orf23_uc003cnc.4_Silent_p.S28S	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	28						mitochondrion		p.S28S(3)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		GAGCTTTATCGGGAGCTGAAG	0.398000													40	78					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17169089	17169089	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:17169089C>T	uc003wxm.3	-	8	1271	c.1032G>A	c.(1030-1032)agG>agA	p.R344R	MTMR7_uc003wxn.3_Silent_p.R123R|MTMR7_uc011kya.2_5'UTR|MTMR7_uc011kyb.2_5'UTR	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	344	Myotubularin phosphatase.|Substrate binding (By similarity).						protein tyrosine phosphatase activity	p.R344R(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCTGAGCGGTCCTGTCCCAGC	0.567000													37	203					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr22:22664743G>A	uc021wml.1	+	32		c.2843G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGACTAAAGGCAAACAAGGA	0.498000													5	39					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4432096	4432096	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:4432096G>A	uc002mal.3	+	11	2195	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	699	Binds to p60.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	p.D699N(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGCAGGCGATGACCTGAA	0.637000								Chromatin Structure					14	65					0	0	1	0	0
DNAJB2	3300	broad.mit.edu	37	2	220145308	220145308	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:220145308G>A	uc002vkx.1	+	2	311	c.74G>A	c.(73-75)cGc>cAc	p.R25H	DNAJB2_uc010zla.1_Missense_Mutation_p.R25H|DNAJB2_uc002vkw.1_Missense_Mutation_p.R25H|DNAJB2_uc010zlb.1_5'Flank	NM_006736	NP_006727	P25686	DNJB2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2), transcript variant 2, mRNA.	25	J.				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	Hsp70 protein binding|heat shock protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	p.R25H(2)|p.R24W(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTATCGGCGCAAGGCTCTC	0.517000													3	57					0	0	1	0	0
KCNAB3	9196	broad.mit.edu	37	17	7827736	7827736	+	Silent	SNP	G	G	T	rs145774275		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:7827736G>T	uc002gjm.1	-	8	708	c.708C>A	c.(706-708)atC>atA	p.I236I	KCNAB3_uc010vul.1_Non-coding_Transcript	NM_004732	NP_004723	O43448	KCAB3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 3 (KCNAB3), mRNA.	236						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.I236I(2)		breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CACTCACCATGATTTCTGCAG	0.572000													3	57					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45404868	45404868	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:45404868T>C	uc001zun.3	-	3	412	c.209A>G	c.(208-210)tAt>tGt	p.Y70C	DUOX2_uc010bea.3_Missense_Mutation_p.Y70C|DUOXA2_uc001zuo.3_5'Flank|DUOXA2_uc010beb.3_5'Flank	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	70	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity	p.Y70C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGAGCCTGATACACACCGTC	0.687000													15	29					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745725	33745725	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:33745725C>T	uc002rox.3	+	6	969	c.342C>T	c.(340-342)caC>caT	p.H114H	RASGRP3_uc010ync.2_Silent_p.H114H|RASGRP3_uc002roy.3_Silent_p.H114H	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	114	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity	p.H114H(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATGAAAAACACGTCAGCCTCA	0.448000													92	159					0	0	1	0	0
KRTDAP	388533	broad.mit.edu	37	19	35981320	35981320	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:35981320C>T	uc002nzh.3	-	0	114	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	KRTDAP_uc021uso.1_Missense_Mutation_p.V9M	NM_207392	NP_997275	P60985	KTDAP_HUMAN	Homo sapiens keratinocyte differentiation-associated protein (KRTDAP), transcript variant 1, mRNA.	9					cell differentiation	extracellular region		p.V9M(2)		breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGAGCACCACGGCAGGAAGG	0.572000													6	150					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160783454	160783454	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:160783454G>C	uc001fwu.3	+	2	533	c.483G>C	c.(481-483)atG>atC	p.M161I	LY9_uc010pjs.1_Missense_Mutation_p.M161I|LY9_uc001fwv.3_Missense_Mutation_p.M161I|LY9_uc001fww.3_Missense_Mutation_p.M161I|LY9_uc001fwy.1_Missense_Mutation_p.M63I|LY9_uc001fwz.3_5'Flank	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	161	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.M161I(2)|p.M161T(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAGTCACCATGAAGTCTGTGA	0.532000													10	114					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255276	140255276	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:140255276C>A	uc003lic.2	+	0	346	c.219C>A	c.(217-219)gaC>gaA	p.D73E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.D73E	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	89	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D73E(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACGGGGACCTTCTGGAGG	0.622000													59	134					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318294	48318294	+	Silent	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:48318294T>C	uc003toq.2	+	17	7527	c.7503T>C	c.(7501-7503)acT>acC	p.T2501T	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2501					transport	integral to membrane	ATP binding|ATPase activity	p.T2501T(2)|p.T2446T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCTGGGACTCTGGTCATGC	0.428000													29	378					0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206778810	206778810	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:206778810G>A	uc001heh.2	-	4	682	c.473C>T	c.(472-474)aCg>aTg	p.T158M	EIF2D_uc009xbw.2_Missense_Mutation_p.T158M|EIF2D_uc010prw.1_3'UTR	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	158	PUA.				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	p.T158M(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAGGCCTGACGTGAGCATCTC	0.537000													4	44					0	0	1	0	0
CCR9	10803	broad.mit.edu	37	3	45942586	45942586	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:45942586C>T	uc003coz.2	+	2	486	c.306C>T	c.(304-306)ccC>ccT	p.P102P	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Silent_p.P90P|CCR9_uc003cpa.2_Silent_p.P90P|CCR9_uc021wwv.1_Silent_p.P90P	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	102					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		p.P102P(2)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TCACTCTTCCCTTCTGGGCCA	0.473000													8	396					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25745379	25745379	+	Silent	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:25745379C>A	uc003xes.2	-	8	1126	c.861G>T	c.(859-861)ggG>ggT	p.G287G	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	287	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G287G(3)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CAAGCATAGTCCCAAACACCA	0.488000													35	67					0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215278952	215278952	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:215278952T>G	uc002vet.2	+	1	165	c.35T>G	c.(34-36)cTg>cGg	p.L12R	VWC2L_uc010zjl.1_Missense_Mutation_p.L12R	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	12						extracellular region		p.L12R(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TGCATACTTCTGTTGGTCATC	0.433000													9	107					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154182914	154182914	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:154182914C>A	uc003lvo.3	+	11	1967	c.1943C>A	c.(1942-1944)cCt>cAt	p.P648H	LARP1_uc021ygh.1_Missense_Mutation_p.P520H|LARP1_uc021ygi.1_Missense_Mutation_p.P725H|LARP1_uc010jie.1_Missense_Mutation_p.P520H	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	725							RNA binding|protein binding	p.P725H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACACTGACCCCTGAGCCCCCT	0.532000													3	59					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226607	39226607	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:39226607G>T	uc003cjk.2	-	1	4559	c.4330C>A	c.(4330-4332)Ccc>Acc	p.P1444T	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.P127T|XIRP1_uc021wvz.1_Missense_Mutation_p.P1444T	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1444							actin binding	p.P1444T(2)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCTCCTGAGGGGCCGGGGCCC	0.612000													34	112					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34100899	34100899	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:34100899C>T	uc003oir.4	-	0	738	c.375G>A	c.(373-375)gcG>gcA	p.A125A	GRM4_uc011dsn.2_Silent_p.A125A|GRM4_uc010jvh.3_Silent_p.A125A|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Silent_p.A44A	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	125					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.A125A(3)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TCTCGATGAGCGCCTGCACAA	0.632000													16	19					0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50123715	50123715	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:50123715G>A	uc001vde.1	-	8	1185	c.924C>T	c.(922-924)taC>taT	p.Y308Y		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	308					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.Y308Y(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GGCCCCACATGTACACGTGCC	0.577000													20	47					0	0	1	0	0
PEMT	10400	broad.mit.edu	37	17	17412831	17412831	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:17412831C>T	uc002grl.3	-	4	549	c.495G>A	c.(493-495)gcG>gcA	p.A165A	PEMT_uc002grj.3_Silent_p.A128A|PEMT_uc002grk.3_Silent_p.A128A|PEMT_uc010vwx.2_Silent_p.A165A	NM_148172	NP_680478	Q9UBM1	PEMT_HUMAN	Homo sapiens phosphatidylethanolamine N-methyltransferase (PEMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	128					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity	p.A165A(2)		endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		CGGTCACTCTCGCCTCCTTGA	0.592000													11	72					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57243065	57243065	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:57243065C>T	uc002elb.3	+	3	760	c.482C>T	c.(481-483)aCa>aTa	p.T161I	RSPRY1_uc002elc.3_Missense_Mutation_p.T161I|RSPRY1_uc002eld.3_Missense_Mutation_p.T161I	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	161						extracellular region	zinc ion binding	p.T161I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GCTGTTATAACATTGTTACTA	0.348000													24	388					0	0	1	0	0
NUDCD1	84955	broad.mit.edu	37	8	110293385	110293385	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:110293385C>G	uc003ynb.4	-	5	951	c.840G>C	c.(838-840)tgG>tgC	p.W280C	NUDCD1_uc003yna.3_Missense_Mutation_p.W251C|NUDCD1_uc010mcl.3_Missense_Mutation_p.W193C|NUDCD1_uc010mcm.1_Missense_Mutation_p.W193C	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	Homo sapiens NudC domain containing 1 (NUDCD1), transcript variant 1, mRNA.	280	CS.							p.W280C(3)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CAGTCTGTTGCCAGTAATACA	0.348000													10	140					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38600988	38600988	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:38600988G>A	uc002ohk.3	+	7	2764	c.2255G>A	c.(2254-2256)cGa>cAa	p.R752Q		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	752	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.R752Q(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATCATTGTCCGAGTCCACAAC	0.597000													26	31					0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43703680	43703680	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:43703680G>A	uc002xnb.3	+	10	1417	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	STK4_uc010ggx.3_3'UTR|STK4_uc010ggy.3_Missense_Mutation_p.D388N	NM_006282	NP_006273	Q13043	STK4_HUMAN	Homo sapiens serine/threonine kinase 4 (STK4), mRNA.	443	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	p.D443N(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GACAGTGGAGGACCTTCAGAA	0.542000													5	68					0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125239347	125239347	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:125239347G>T	uc011lyu.2	-	0	859	c.859C>A	c.(859-861)Cca>Aca	p.P287T	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287T(2)|p.N286K(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TAAATGAATGGGTTCAACATG	0.418000													63	151					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275293	152275293	+	Silent	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:152275293A>G	uc001ezu.1	-	2	12105	c.12069T>C	c.(12067-12069)gaT>gaC	p.D4023D		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	4023					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D4023D(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTTGGATGATCTTTACCAA	0.383000									Ichthyosis				68	192					0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78516453	78516453	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:78516453T>A	uc001ozl.4	-	14	2526	c.2063A>T	c.(2062-2064)aAc>aTc	p.N688I		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	688	EGF-like 4.				signal transduction	integral to membrane		p.N688I(3)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GGTCTCGCAGTTGGTGCCTCC	0.617000													4	9					0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145580242	145580242	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:145580242A>G	uc001eoc.1	+	5	815	c.724A>G	c.(724-726)Atc>Gtc	p.I242V	PIAS3_uc010oyy.1_Missense_Mutation_p.I233V|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	242	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.I242V(2)|p.I233V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGCCGCCCCATCAACATCAC	0.587000													14	205					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85510885	85510885	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:85510885G>A	uc001dkp.3	-	1	306	c.159C>T	c.(157-159)ttC>ttT	p.F53F	MCOLN3_uc001dkq.3_Silent_p.F53F|MCOLN3_uc001dkr.3_Silent_p.F53F|MCOLN3_uc001dks.4_5'UTR	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	53						integral to membrane	ion channel activity	p.F53F(2)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CTCGAGCCCAGAACTTCTCAC	0.393000													7	140					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6488385	6488385	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:6488385A>C	uc001amy.3	+	1	562	c.394A>C	c.(394-396)Acc>Ccc	p.T132P		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	132					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding	p.T132P(2)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGACCCCACCGCGGCCAC	0.622000													5	51					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85571797	85571797	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:85571797G>C	uc002spd.3	-	6	1367	c.1176C>G	c.(1174-1176)atC>atG	p.I392M	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Missense_Mutation_p.I331M	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	392					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.I392M(2)|p.I392V(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTCGCAGGCAGATGAAAACAG	0.592000													3	77					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95158181	95158181	+	Silent	SNP	G	G	A	rs147500239	byFrequency	TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:95158181G>A	uc003ygh.2	-	14	2267	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	CDH17_uc011lgo.1_Silent_p.N500N|CDH17_uc011lgp.1_Silent_p.N714N	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	714	Cadherin 7.					integral to membrane	calcium ion binding	p.N714N(2)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTCCCAGTCGTTTTGTAAGC	0.408000													37	108					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112153696	112153696	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:112153696G>A	uc009zvx.3	+	7	1215	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	ACAD10_uc001tso.4_Intron|ACAD10_uc001tsp.3_Missense_Mutation_p.D308N|ACAD10_uc001tsq.3_Missense_Mutation_p.D308N|ACAD10_uc001tsr.3_Missense_Mutation_p.D46N|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	308							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.D308N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGCTAATCGTGATCTAGTTCT	0.488000													29	387					0	0	1	0	0
TMCO7	79613	broad.mit.edu	37	16	69056743	69056743	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:69056743C>G	uc002ewi.4	+	15	2867	c.2855C>G	c.(2854-2856)tCa>tGa	p.S952*		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	952						integral to membrane	binding	p.S952*(1)|p.S481*(1)		endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		GACATGGTCTCAAAGTACCGA	0.438000													3	11					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72295684	72295684	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:72295684G>T	uc010rrc.2	-	17	1694	c.1448C>A	c.(1447-1449)gCc>gAc	p.A483D	PDE2A_uc001oso.3_Missense_Mutation_p.A462D|PDE2A_uc010rra.2_Missense_Mutation_p.A476D|PDE2A_uc001osn.3_Missense_Mutation_p.A227D|PDE2A_uc010rrb.2_Missense_Mutation_p.A474D|PDE2A_uc010rrd.2_Missense_Mutation_p.A368D	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	483	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A483D(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AAGCGGATGGGCATATGCGTC	0.642000													6	26					0	0	1	0	0
BET1	10282	broad.mit.edu	37	7	93633528	93633528	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:93633528T>A	uc003unf.1	-	0	163	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	BET1_uc003une.4_Non-coding_Transcript	NM_005868	NP_005859	O15155	BET1_HUMAN	Homo sapiens blocked early in transport 1 homolog (S. cerevisiae) (BET1), mRNA.	1					ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein binding	p.M1L(2)		large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			GCACGCCTCATCCTGCCAGAG	0.632000													37	76					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44040309	44040309	+	Silent	SNP	A	A	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:44040309A>T	uc002rtn.3	-	12	2042	c.1902T>A	c.(1900-1902)ctT>ctA	p.L634L	ABCG5_uc002rtm.3_Silent_p.L239L|ABCG5_uc002rto.3_Silent_p.L463L|ABCG5_uc002rtp.3_Silent_p.L239L	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	634	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.L634L(2)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTAGGATGACAAGAGCTGGAA	0.403000													26	60					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152647137	152647137	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:152647137T>A	uc021zhb.1	-	77	15617	c.15394A>T	c.(15394-15396)Act>Tct	p.T5132S	SYNE1_uc003qot.4_Missense_Mutation_p.T5061S|SYNE1_uc003qou.4_Missense_Mutation_p.T5132S|SYNE1_uc010kiz.3_Missense_Mutation_p.T887S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5132					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.T5132S(4)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTAGACGAAGTCTTCAACAAA	0.348000										HNSCC(10;0.0054)			46	79					0	0	1	0	0
EP400NL	347918	broad.mit.edu	37	12	132589578	132589578	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:132589578A>G	uc001ujv.3	+	0	1037	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R	EP400NL_uc001ujr.2_Missense_Mutation_p.K206R|EP400NL_uc001ujs.4_Missense_Mutation_p.K269R|EP400NL_uc009zyq.3_Missense_Mutation_p.K206R|EP400NL_uc001ujt.3_Missense_Mutation_p.K206R|EP400NL_uc001ujw.1_Missense_Mutation_p.K37R					Homo sapiens EP400 N-terminal like (EP400NL), non-coding RNA.									p.K338R(3)		endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						AAGGTTCCCAAGAAGTTAGAG	0.607000													8	41					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52877000	52877000	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:52877000T>G	uc010ugf.2	-	10	3174	c.3040A>C	c.(3040-3042)Aat>Cat	p.N1014H	FAM214A_uc002acg.4_Missense_Mutation_p.N1007H|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.N919H|FAM214A_uc002acf.4_Missense_Mutation_p.N37H	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	1007								p.N1007H(1)									TTCTCTTTATTAACACTTCTC	0.348000													14	53					0	0	1	0	0
THTPA	79178	broad.mit.edu	37	14	24027979	24027979	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr14:24027979G>A	uc001wkh.4	+	2	993	c.623G>A	c.(622-624)cGc>cAc	p.R208H	THTPA_uc001wkb.4_Non-coding_Transcript|THTPA_uc001wkg.4_Missense_Mutation_p.R208H|THTPA_uc010akr.3_Non-coding_Transcript|AX747770_uc001wko.1_5'Flank	NM_001126339	NP_077304	Q9BU02	THTPA_HUMAN	Homo sapiens thiamine triphosphatase (THTPA), transcript variant 2, mRNA.	208					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity	p.R208H(2)		large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	GACTATCAGCGCCTGCTAGAA	0.547000											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	80					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95676990	95676990	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:95676990C>G	uc003ygq.4	+	6	893	c.710C>G	c.(709-711)tCa>tGa	p.S237*	ESRP1_uc003ygr.4_Nonsense_Mutation_p.S237*|ESRP1_uc003ygs.4_Nonsense_Mutation_p.S237*|ESRP1_uc003ygt.4_Nonsense_Mutation_p.S237*|ESRP1_uc003ygu.4_Nonsense_Mutation_p.S237*|ESRP1_uc003ygv.3_Nonsense_Mutation_p.S77*|ESRP1_uc003ygw.3_Nonsense_Mutation_p.S77*	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	237	RRM 1.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.S237*(3)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGGCAGTCTTCAGATCAAGAT	0.373000													32	96					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2878237	2878237	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:2878237C>T	uc002lwp.1	+	3	1368	c.1281C>T	c.(1279-1281)tgC>tgT	p.C427C	ZNF556_uc002lwq.3_Silent_p.C426C	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C427C(8)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGTAAATGCGAAAAATGTG	0.448000													5	192					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167334739	167334739	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:167334739C>A	uc001gec.3	+	3	333	c.94C>A	c.(94-96)Cct>Act	p.P32T	POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Missense_Mutation_p.P55T|POU2F1_uc010plh.2_Missense_Mutation_p.P55T|POU2F1_uc001ged.3_Missense_Mutation_p.P30T|POU2F1_uc001gef.3_Missense_Mutation_p.P44T	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	32					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P32T(2)|p.P44T(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TCAGAAGCAGCCTGTGCCTGT	0.428000													9	153					0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30736751	30736751	+	Silent	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr22:30736751T>C	uc003ahl.3	-	7	1254	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	SF3A1_uc021wnt.1_Silent_p.T309T	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	374					nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding	p.T374T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GAGGCATGGGTGTCTCTGGGG	0.582000													59	112					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62456031	62456031	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:62456031T>G	uc001dab.3	+	27	3976	c.3862T>G	c.(3862-3864)Tta>Gta	p.L1288V	INADL_uc009waf.1_Missense_Mutation_p.L1288V|INADL_uc001daa.2_Missense_Mutation_p.L1288V|INADL_uc001dad.3_Missense_Mutation_p.L985V|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.L72V|INADL_uc009wag.3_Missense_Mutation_p.L72V|INADL_uc010oou.1_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1288	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.L1288V(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGATGAACTCTTAGAGGTGAG	0.443000													8	54					0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97098576	97098576	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:97098576T>C	uc021rcc.1	+	14	1881	c.1803_splice	c.e14+2	p.Q601_splice				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	601								p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATATACAGGTAAGGATAATA	0.284000													26	27					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447105	226447105	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:226447105G>A	uc002voe.2	+	3	1147	c.972G>A	c.(970-972)ccG>ccA	p.P324P	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.P94P	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	324	Pro-rich.							p.P324P(1)									ACATCCCTCCGCCCTTCCCCA	0.647000													8	40					0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293408	94293408	+	Silent	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:94293408T>C	uc003uno.3	+	1	1019	c.540T>C	c.(538-540)tcT>tcC	p.S180S	PEG10_uc011kie.2_Silent_p.S256S|PEG10_uc022ahn.1_Silent_p.S180S	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	180	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.S180S(2)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATGGGGTCTGTCATCGACT	0.547000													25	271					0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922668	17922668	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:17922668G>C	uc002nhl.1	+	2	1003	c.856G>C	c.(856-858)Gct>Cct	p.A286P	B3GNT3_uc010ebd.1_Missense_Mutation_p.A286P|B3GNT3_uc010ebe.1_Missense_Mutation_p.A286P	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	286					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	p.A286P(2)|p.R285C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CCTGCGCCGTGCTGCCCATGT	0.602000													32	114					0	0	1	0	0
TRIM74	378108	broad.mit.edu	37	7	72430608	72430608	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:72430608G>T	uc010lao.2	-	3	743	c.670C>A	c.(670-672)Caa>Aaa	p.Q224K	TRIM74_uc003tws.1_Missense_Mutation_p.Q224K|TRIM74_uc022afm.1_Missense_Mutation_p.Q224K	NM_198853	NP_942150	Q86UV6	TRI74_HUMAN	Homo sapiens tripartite motif containing 74 (TRIM74), mRNA.	224						intracellular	zinc ion binding	p.Q224K(2)		prostate(1)	1						CACTCGGCTTGGGCCAGCCGC	0.672000													5	80					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119228895	119228895	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:119228895G>A	uc001pwm.4	-	7	1600	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	USP2_uc001pwl.4_Silent_p.F226F|USP2_uc001pwn.4_Silent_p.F192F	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	435	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	p.F435F(3)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGAAGGGGTCGAAGACCGTAG	0.517000													33	70					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109116021	109116021	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:109116021G>A	uc002tec.3	+	21	4949	c.4795G>A	c.(4795-4797)Gaa>Aaa	p.E1599K	GCC2_uc002ted.3_Missense_Mutation_p.E1498K	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1599	Mediates interaction with RAB6A.|Mediates interaction with RAB9A.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.E1599K(2)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TCTCAAAAGTGAAATAAGAAG	0.388000													6	138					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35711265	35711265	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:35711265C>A	uc003zxt.2	-	29	4360	c.4006G>T	c.(4006-4008)Gct>Tct	p.A1336S		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1336	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding	p.A1336S(3)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCTGCAGCCAGCTGACTC	0.557000													4	65					0	0	1	0	0
NUP43	348995	broad.mit.edu	37	6	150048281	150048281	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:150048281G>A	uc003qmz.3	-	7	1024	c.967C>T	c.(967-969)Cac>Tac	p.H323Y	NUP43_uc003qmx.4_Non-coding_Transcript|NUP43_uc011eef.1_Missense_Mutation_p.H227Y	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	Homo sapiens nucleoporin 43kDa (NUP43), transcript variant 1, mRNA.	323					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	protein binding	p.H323Y(2)		breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACAGACTGGTGAACATTAGCT	0.393000													8	70					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14865794	14865794	+	Missense_Mutation	SNP	G	G	A	rs146763976		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14865794G>A	uc002mzp.1	-	13	2018	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Missense_Mutation_p.A510V|EMR2_uc002mzq.1_Missense_Mutation_p.A461V|EMR2_uc002mzr.1_Missense_Mutation_p.A472V|EMR2_uc002mzs.1_Missense_Mutation_p.A379V|EMR2_uc002mzt.1_Missense_Mutation_p.A417V|EMR2_uc002mzu.1_Missense_Mutation_p.A428V|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	521	GPS.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.A521V(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CATGAGGACGGCAAAGCTGCT	0.572000													5	103					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178416809	178416809	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:178416809C>T	uc002uln.3	-	0	716	c.683G>A	c.(682-684)gGc>gAc	p.G228D	TTC30B_uc010zfc.1_5'UTR	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	228					cell projection organization	cilium	binding	p.G228D(4)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			AGTGGTCATGCCCACACCTAG	0.522000													4	118					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938095	14938095	+	Nonstop_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14938095C>A	uc002mzw.3	-	0	1182	c.959G>T	c.(958-960)tGa>tTa	p.*320L	OR7A5_uc010xoa.2_Splice_Site_p.*320_splice	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.*320L(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GCCCTGCAATCATGGGCACTT	0.383000													63	132					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132695782	132695782	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:132695782G>T	uc003qdf.3	-	1	498	c.399C>A	c.(397-399)gaC>gaA	p.D133E	MOXD1_uc003qde.3_Missense_Mutation_p.D65E	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	133	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.D133E(2)|p.D65E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TTATACTCTTGTCATTTATGT	0.343000													61	156					0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32135815	32135815	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:32135815C>T	uc001rks.3	+	3	2340	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	642								p.G642G(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			ATGTAAGTGGCAGGGTTTTGG	0.413000													30	47					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110752470	110752470	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:110752470C>T	uc003puf.3	-	6	1492	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	SLC22A16_uc003pue.3_Silent_p.S456S	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	475					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.S475S(2)|p.R474K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CCACAGCCAGCGATCTGGAAA	0.587000													16	23					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49509965	49509965	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:49509965G>C	uc002xvt.1	-	4	1631	c.1286C>G	c.(1285-1287)gCt>gGt	p.A429G	ADNP_uc002xvu.1_Missense_Mutation_p.A429G	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	429						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A429G(2)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GGCAGCTGCAGCAGGTTTGGA	0.473000													64	154					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718895	108718895	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chrX:108718895G>C	uc022cch.1	-	0	356	c.271C>G	c.(271-273)Ctg>Gtg	p.L91V	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.L91V	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	91					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.L91V(3)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GAATAACTCAGGTCAAAAGAT	0.502000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	96	44					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186055463	186055463	+	Silent	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:186055463T>G	uc001grq.1	+	57	9199	c.8970T>G	c.(8968-8970)ggT>ggG	p.G2990G	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2990	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G2990G(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGTCTCTGGTTTTCCACCTC	0.408000													27	114					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215645851	215645851	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:215645851G>A	uc002veu.2	-	3	882	c.747C>T	c.(745-747)atC>atT	p.I249I	BARD1_uc021vwe.1_Silent_p.I230I|BARD1_uc021vwf.1_Silent_p.I152I|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Silent_p.I105I|BARD1_uc021vwj.1_Silent_p.I249I	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	249					DNA repair|cell cycle arrest|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.I249I(3)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGGACTGGAGATAACAGATG	0.383000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				54	115					0	0	1	0	0
ATG13	9776	broad.mit.edu	37	11	46670720	46670720	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:46670720G>A	uc001nda.3	+	4	932	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	ATG13_uc009yld.3_Missense_Mutation_p.E102K|ATG13_uc001ndb.3_Missense_Mutation_p.E102K|ATG13_uc001ncz.3_Missense_Mutation_p.E102K|ATG13_uc001ndc.3_Missense_Mutation_p.E102K|ATG13_uc010rgv.2_Missense_Mutation_p.E23K	NM_001205119	NP_001192048	O75143	ATG13_HUMAN	Homo sapiens ATG13 autophagy related 13 homolog (S. cerevisiae) (ATG13), transcript variant 3, mRNA.	102					autophagic vacuole assembly	ULK1-ATG13-FIP200 complex|cytosol|pre-autophagosomal structure	protein binding	p.E102K(3)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						ATGGTGTCTTGAAATGAATGA	0.353000													37	88					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77664342	77664342	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:77664342C>A	uc021rks.1	-	59	10691	c.10424G>T	c.(10423-10425)aGa>aTa	p.R3475I	MYCBP2_uc010aev.3_Missense_Mutation_p.R2841I|MYCBP2_uc001vke.3_Missense_Mutation_p.R57I	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.R3437I(1)|p.R3475I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGAGTATGATCTTTGGAAGAC	0.388000													63	118					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184040943	184040943	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:184040943C>G	uc003fnp.3	+	13	2273	c.2002C>G	c.(2002-2004)Cca>Gca	p.P668A	EIF4G1_uc003fno.2_Missense_Mutation_p.P609A|EIF4G1_uc010hxw.2_Missense_Mutation_p.P504A|EIF4G1_uc010hxx.3_Missense_Mutation_p.P675A|EIF4G1_uc003fnt.3_Missense_Mutation_p.P379A|EIF4G1_uc010hxy.3_Missense_Mutation_p.P675A|EIF4G1_uc003fnq.3_Missense_Mutation_p.P581A|EIF4G1_uc003fnr.3_Missense_Mutation_p.P504A|EIF4G1_uc003fns.3_Missense_Mutation_p.P628A|EIF4G1_uc003fnv.4_Missense_Mutation_p.P668A|EIF4G1_uc003fnw.3_Missense_Mutation_p.P675A|EIF4G1_uc003fnx.3_Missense_Mutation_p.P472A|SNORD66_uc003fnz.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	668	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.P668A(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACTTCACTCCATCCTTTGC	0.607000													5	190					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	830	830	+	RNA	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chrGL000237.1:830G>T	uc011mgu.1	-	1		c.388C>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		GCCTCCATGGGTAccctccta	0.587000													4	12					0	0	1	0	0
SEPT10	151011	broad.mit.edu	37	2	110301775	110301775	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:110301775C>A	uc002tey.3	-	11	1938	c.1559G>T	c.(1558-1560)gGt>gTt	p.G520V	SEPT10_uc010ywu.1_3'UTR|SEPT10_uc002tew.3_3'UTR|SEPT10_uc002tex.3_3'UTR|SEPT10_uc010ywv.2_3'UTR|SEPT10_uc002tev.1_3'UTR|SEPT10_uc010fjo.3_Non-coding_Transcript	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGGCTGTTCACCAAATATAGA	0.333000													19	22					0	0	1	0	0
SEPT4	5414	broad.mit.edu	37	17	56598642	56598642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:56598642G>A	uc010wnx.2	-	9	1277	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	SEPT4_uc002iwk.2_Nonsense_Mutation_p.R216*|SEPT4_uc010wnw.2_Nonsense_Mutation_p.R216*|SEPT4_uc002iwl.2_Nonsense_Mutation_p.R216*|SEPT4_uc002iwm.2_Nonsense_Mutation_p.R363*|SEPT4_uc002iwo.2_Nonsense_Mutation_p.R344*|SEPT4_uc002iwp.2_3'UTR|SEPT4_uc010wny.2_Nonsense_Mutation_p.R355*|SEPT4_uc010dcy.2_3'UTR	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	363					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R363*(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGTAGAGTCGACCCCGAACT	0.582000											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	95					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219538385	219538385	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:219538385C>T	uc002viu.3	+	2	401	c.122C>T	c.(121-123)tCa>tTa	p.S41L	STK36_uc002viv.3_Missense_Mutation_p.S41L|RNF25_uc002vit.3_5'Flank|RNF25_uc010fvw.3_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	41	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	p.S41L(3)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TTGGGGCGCTCAGAGAAGGAG	0.448000													20	39					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5264856	5264856	+	Silent	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:5264856A>G	uc002gbm.4	+	8	1673	c.1449A>G	c.(1447-1449)caA>caG	p.Q483Q	RABEP1_uc010clc.1_Silent_p.Q476Q|RABEP1_uc010cld.1_Silent_p.Q440Q|RABEP1_uc010vsw.1_Silent_p.Q440Q|RABEP1_uc002gbl.4_Silent_p.Q483Q|NUP88_uc002gbn.3_Non-coding_Transcript	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	483					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity	p.Q483Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CACCAGAACAAGAAGAGACAG	0.478000													40	34					0	0	1	0	0
MFAP4	4239	broad.mit.edu	37	17	19288435	19288435	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:19288435G>A	uc002gvs.3	-	4	670	c.569C>T	c.(568-570)gCa>gTa	p.A190V	MFAP4_uc002gvt.3_Missense_Mutation_p.A166V	NM_001198695	NP_001185624	P55083	MFAP4_HUMAN	Homo sapiens microfibrillar-associated protein 4 (MFAP4), transcript variant 1, mRNA.	166	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding	p.A166V(1)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTCAAAGCCTGCCACAAAGAG	0.602000													34	37					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158057827	158057827	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:158057827G>A	uc001frn.4	+	6	1203	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	KIRREL_uc010pib.2_Missense_Mutation_p.A167T|KIRREL_uc009wsq.3_Missense_Mutation_p.A103T|KIRREL_uc001fro.4_Missense_Mutation_p.A65T	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	267	Ig-like C2-type 3.					integral to membrane		p.A103T(1)|p.A267T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GATTGAAGACGCCCACGAGAG	0.522000											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	276					0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145746456	145746456	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:145746456T>G	uc003zdk.2	+	3	1250	c.1076T>G	c.(1075-1077)cTg>cGg	p.L359R	LRRC14_uc003zdl.2_Missense_Mutation_p.L359R	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	359								p.L359R(2)		endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTCCAGGGTCTGTTGCAGGCA	0.597000													21	46					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76813115	76813115	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr4:76813115G>A	uc003hix.3	-	2	429	c.72C>T	c.(70-72)gcC>gcT	p.A24A	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Silent_p.A24A	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	24	IQ.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.A24A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTGGATCAGGGCTGCTGCCT	0.607000													19	69					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154667617	154667617	+	Splice_Site	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:154667617G>A	uc003wlk.3	+	20	2013	c.1884_splice	c.e20-1	p.V628_splice	DPP6_uc003wli.3_Splice_Site_p.V564_splice|DPP6_uc003wlm.3_Splice_Site_p.V566_splice|DPP6_uc011kvq.2_Splice_Site_p.V521_splice	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	628					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.D629N(1)|p.D565N(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTTTCCAGGGATGGCACCCC	0.632000													5	13					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179989287	179989287	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:179989287C>G	uc001gnt.3	+	11	2761	c.2378C>G	c.(2377-2379)aCt>aGt	p.T793S	CEP350_uc009wxl.2_Missense_Mutation_p.T792S|CEP350_uc001gnu.3_Missense_Mutation_p.T627S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	793						centrosome|nucleus|spindle		p.T793S(3)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGCCATTAACTTTTACACCT	0.378000													63	131					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3176719	3176719	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr10:3176719C>G	uc001igp.3	+	19	2143	c.2067C>G	c.(2065-2067)atC>atG	p.I689M	PFKP_uc001igq.3_Missense_Mutation_p.I681M|PFKP_uc009xhr.3_Missense_Mutation_p.I651M|PFKP_uc009xht.3_Missense_Mutation_p.I427M|PFKP_uc009xhu.3_Missense_Mutation_p.I195M	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	689					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	p.I689M(3)|p.I681M(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GAACCAAAATCTCTGCCAGAG	0.512000													82	212					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131249205	131249205	+	Silent	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:131249205C>G	uc003yta.2	-	3	450	c.222G>C	c.(220-222)gtG>gtC	p.V74V	ASAP1_uc011liw.2_Silent_p.V67V	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	74					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding	p.V74V(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAGACTTCTTCACTTTCTGAA	0.294000													20	67					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718930	42718930	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:42718930C>A	uc021xxv.1	+	9	1479	c.1342C>A	c.(1342-1344)Cct>Act	p.P448T	GHR_uc003jmt.3_Missense_Mutation_p.P441T|GHR_uc003jmu.3_Missense_Mutation_p.P441T|GHR_uc003jmv.2_Missense_Mutation_p.P441T|GHR_uc021xxw.1_Missense_Mutation_p.P441T|GHR_uc021xxx.1_Missense_Mutation_p.P441T|GHR_uc021xxy.1_Missense_Mutation_p.P441T|GHR_uc021xxz.1_Missense_Mutation_p.P441T|GHR_uc021xya.1_Missense_Mutation_p.P441T|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.P254T|GHR_uc021xyd.1_Missense_Mutation_p.P419T	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	441					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	p.P441T(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGATGCTTGCCCTGCTACTCA	0.463000													4	83					0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40675	40675	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chrGL000218.1:40675G>A	uc011mfn.2	-	2	344	c.255C>T	c.(253-255)gaC>gaT	p.D85D	LOC100233156_uc003jah.2_Silent_p.D85D					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TGTGCCGCACGTCCTCCAGTT	0.662000													3	4					0	0	1	0	0
C1orf38	9473	broad.mit.edu	37	1	28208523	28208523	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:28208523G>T	uc001bpc.4	+	3	716	c.688G>T	c.(688-690)Gac>Tac	p.D230Y	C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Intron|C1orf38_uc010ofn.2_Intron|C1orf38_uc010ofo.2_Missense_Mutation_p.D230Y	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	230	CABIT 1.				cell adhesion|inflammatory response			p.D230Y(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGAGGTCGACGTGGAGGA	0.642000													25	66					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361522	105361522	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:105361522A>G	uc003ylx.1	+	1	791	c.742A>G	c.(742-744)Acc>Gcc	p.T248A		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	248					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.T248A(1)									CATCTACATCACCAGACAATT	0.488000													11	172					0	0	1	0	0
DNAJB11	51726	broad.mit.edu	37	3	186302301	186302301	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:186302301A>G	uc003fqi.3	+	8	1670	c.935A>G	c.(934-936)aAc>aGc	p.N312S		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.	312					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.N312S(2)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTTGACAACAACAATATCAAG	0.433000													25	39					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46757763	46757763	+	Silent	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:46757763C>G	uc001rpg.3	-	10	1337	c.897G>C	c.(895-897)ctG>ctC	p.L299L	SLC38A2_uc010sli.2_Silent_p.L137L|SLC38A2_uc001rph.3_Silent_p.L199L	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	Homo sapiens solute carrier family 38, member 2 (SLC38A2), mRNA.	299					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.L299L(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ATGAAAAGATCAGAATTGGCA	0.328000													14	30					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32156280	32156280	+	Splice_Site	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:32156280G>T	uc003oav.1	-	3	567	c.296_splice	c.e3-1	p.G99_splice	PBX2_uc003oaw.3_Splice_Site_p.G99_splice	NM_002586	NP_002577	P40425	PBX2_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA.	99							transcription factor binding	p.G99G(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAATGCTGAGGCCTAGCATGC	0.612000													5	59					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112318709	112318709	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:112318709G>C	uc001ebu.1	-	7	2438	c.1958C>G	c.(1957-1959)tCc>tGc	p.S653C	KCND3_uc001ebv.1_Missense_Mutation_p.S634C	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	653						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.S634C(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTACAAGGCGGAGACCTTGAC	0.612000													29	82					0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52433404	52433404	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:52433404T>C	uc002abt.1	-	6	625	c.560A>G	c.(559-561)aAa>aGa	p.K187R	GNB5_uc002abr.1_Missense_Mutation_p.K145R|GNB5_uc002abs.1_Intron	NM_016194	NP_057278	O14775	GBB5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta 5 (GNB5), transcript variant 2, mRNA.	187						heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.K187R(1)		large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		AGACTTCTTTTTGGCAGCCAT	0.453000													49	80					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69094533	69094533	+	Silent	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:69094533C>A	uc001suf.3	+	6	695	c.580C>A	c.(580-582)Cga>Aga	p.R194R	NUP107_uc001sug.3_Silent_p.R41R|NUP107_uc010stj.2_Silent_p.R165R	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	194					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding	p.R194R(2)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AATAGTGAGTCGAGCAACACC	0.363000													32	67					0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57955539	57955539	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:57955539C>T	uc002ixw.2	-	4	982	c.694G>A	c.(694-696)Gca>Aca	p.A232T	TUBD1_uc010wok.2_Missense_Mutation_p.A232T|TUBD1_uc010ddf.2_Missense_Mutation_p.A232T|TUBD1_uc010wol.2_Missense_Mutation_p.A16T|TUBD1_uc010ddg.2_Missense_Mutation_p.A197T|TUBD1_uc010ddi.2_Intron|TUBD1_uc010ddh.2_Missense_Mutation_p.A113T|TUBD1_uc002ixx.2_Missense_Mutation_p.A232T	NM_016261	NP_001180542	Q9UJT1	TBD_HUMAN	Homo sapiens tubulin, delta 1 (TUBD1), transcript variant 1, mRNA.	232					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	p.A232T(2)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			AGCTGATGTGCGAGGACTTGA	0.418000													47	120					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	159021757	159021757	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:159021757G>A	uc001ftg.3	+	8	2076	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	IFI16_uc010pis.2_Missense_Mutation_p.D596N|IFI16_uc010pit.2_Missense_Mutation_p.D596N	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	652	HIN-200 2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.D596N(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ACTTGTGGCTGATGTGAATGC	0.428000													7	180					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909862	23909862	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:23909862G>C	uc001uon.2	-	9	8742	c.8153C>G	c.(8152-8154)gCa>gGa	p.A2718G	SACS_uc001uoo.2_Missense_Mutation_p.A2571G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2718					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding	p.A2571G(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTGTCTGATGCTGGAACAGA	0.378000													55	128					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45404890	45404890	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:45404890C>G	uc001zun.3	-	3	390	c.187G>C	c.(187-189)Gcc>Ccc	p.A63P	DUOX2_uc010bea.3_Missense_Mutation_p.A63P|DUOXA2_uc001zuo.3_5'Flank|DUOXA2_uc010beb.3_5'Flank	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	63	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity	p.A63P(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCGTAATTGGCTGGTACGCGG	0.682000													18	28					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959620	45959620	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr21:45959620C>T	uc002zfh.1	-	0	459	c.414G>A	c.(412-414)caG>caA	p.Q138Q	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	138	24 X 5 AA repeats of C-C-X(3).					keratin filament		p.Q138Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						AGCAGGACTGCTGGCTGGAGG	0.582000													33	26					0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105190573	105190573	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:105190573G>C	uc003vda.1	+	7	1299	c.1068G>C	c.(1066-1068)caG>caC	p.Q356H	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	356	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	p.Q356H(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGAAGATTCAGCCAATATTAG	0.378000													8	117					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16360552	16360552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:16360552C>A	uc002wpg.2	-	18	2254	c.2095G>T	c.(2095-2097)Gaa>Taa	p.E699*	KIF16B_uc002wpe.1_Nonsense_Mutation_p.E81*|KIF16B_uc002wpf.1_Nonsense_Mutation_p.E81*|KIF16B_uc010gch.2_Nonsense_Mutation_p.E699*|KIF16B_uc010gci.2_Nonsense_Mutation_p.E699*|KIF16B_uc010gcj.2_Nonsense_Mutation_p.E710*	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	699	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.E699*(3)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAGGTCTCTTCTTCTTGTCTC	0.448000													76	184					0	0	1	0	0
KCTD10	83892	broad.mit.edu	37	12	109898479	109898479	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:109898479C>G	uc001toj.1	-	2	2086	c.373G>C	c.(373-375)Gtc>Ctc	p.V125L	KCTD10_uc001toh.1_5'Flank|KCTD10_uc009zvi.1_Missense_Mutation_p.V114L|KCTD10_uc001toi.1_Missense_Mutation_p.V117L|KCTD10_uc001tok.1_Intron	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 10 (KCTD10), mRNA.	117					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V117L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						AGGCCTTGGACTAGGTAGTAC	0.577000													28	140					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098722	78098723	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:78098722_78098723delTC	uc001dhq.3	-	4	793_794	c.317_318delGA	c.(316-318)agafs	p.R106fs	ZZZ3_uc001dhr.3_Intron|ZZZ3_uc009wbz.1_Frame_Shift_Del_p.R106fs|ZZZ3_uc001dhp.3_Frame_Shift_Del_p.R106fs	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTGTTTGCCTTCTCTCACAATT	0.391													117	268	---	---	---	---					
FXR1	8087	broad.mit.edu	37	3	180675619	180675620	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:180675619_180675620insA	uc003fkq.3	+	9	1133_1134	c.893_894insA	c.(892-894)ggafs	p.G298fs	FXR1_uc003fkp.3_Frame_Shift_Ins_p.G213fs|FXR1_uc003fkr.3_Frame_Shift_Ins_p.G298fs|FXR1_uc011bqj.2_Frame_Shift_Ins_p.G212fs|FXR1_uc003fks.3_Frame_Shift_Ins_p.G212fs|FXR1_uc011bqk.2_Frame_Shift_Ins_p.G249fs|FXR1_uc011bql.2_Frame_Shift_Ins_p.G285fs	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	298	KH 2.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AAAGTAATTGGAAAAAATGGCA	0.342													41	89	---	---	---	---					
SERINC1	57515	broad.mit.edu	37	6	122768119	122768119	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:122768119delA	uc003pyy.1	-	8	1096	c.1026delT	c.(1024-1026)aatfs	p.N342fs		NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	Homo sapiens serine incorporator 1 (SERINC1), mRNA.	342					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		GAGTCAGTTTATTAACCTGAC	0.363													58	116	---	---	---	---					
LINGO2	158038	broad.mit.edu	37	9	27949103	27949103	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:27949103delC	uc003zqv.1	-	6	2217	c.1567delG	c.(1567-1569)gacfs	p.D523fs	LINGO2_uc010mjf.1_Frame_Shift_Del_p.D523fs|LINGO2_uc003zqu.1_Frame_Shift_Del_p.D523fs|LINGO2_uc022bfc.1_Frame_Shift_Del_p.D523fs	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	523						integral to membrane				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)		GAAATGGTGTCATTGGAGTCG	0.458													7	325	---	---	---	---					
ANKRD20A4	728747	broad.mit.edu	37	9	69423761	69423762	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:69423761_69423762insA	uc004afn.3	+	14	2169_2170	c.2057_2058insA	c.(2056-2058)agafs	p.R686fs		NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A4 (ANKRD20A4), mRNA.	686										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GATAGTCTCAGAAAAAAGTCAT	0.337													7	174	---	---	---	---					
DCLRE1C	64421	broad.mit.edu	37	10	14951253	14951253	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr10:14951253delA	uc001inn.3	-	13	1318	c.1233delT	c.(1231-1233)tttfs	p.F411fs	DCLRE1C_uc010qbx.2_Intron|DCLRE1C_uc001ink.3_Frame_Shift_Del_p.F64fs|DCLRE1C_uc001inl.3_Frame_Shift_Del_p.F291fs|DCLRE1C_uc001inr.3_Frame_Shift_Del_p.F296fs|DCLRE1C_uc009xji.3_Frame_Shift_Del_p.F296fs|DCLRE1C_uc001inm.3_Frame_Shift_Del_p.F291fs|DCLRE1C_uc001ino.3_Frame_Shift_Del_p.F296fs|DCLRE1C_uc009xjh.3_Non-coding_Transcript|DCLRE1C_uc001inp.3_Frame_Shift_Del_p.F291fs|DCLRE1C_uc001inq.3_Frame_Shift_Del_p.F291fs|DCLRE1C_uc021pni.1_Frame_Shift_Del_p.F296fs	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant a, mRNA.	411					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CCTCAGGGTGAAAAGTTTCCG	0.448								Non-homologous end-joining					17	112	---	---	---	---					
FAM111A	63901	broad.mit.edu	37	11	58920573	58920574	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:58920573_58920574insA	uc010rkp.2	+	4	1659_1660	c.1432_1433insA	c.(1432-1434)gaafs	p.E478fs	FAM111A_uc010rkq.2_Frame_Shift_Ins_p.E478fs|FAM111A_uc010rkr.2_Frame_Shift_Ins_p.E478fs|FAM111A_uc001nno.3_Frame_Shift_Ins_p.E478fs|FAM111A_uc001nnp.3_Frame_Shift_Ins_p.E478fs|FAM111A_uc001nnq.3_Frame_Shift_Ins_p.E478fs	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	478					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TCCATATGGAGAAAAAAAGCAG	0.406													72	165	---	---	---	---					
GANAB	23193	broad.mit.edu	37	11	62402415	62402416	+	Frame_Shift_Ins	INS	-	GGAC	GGAC			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:62402415_62402416insGGAC	uc001nua.3	-	4	470_471	c.437_438insGTCC	c.(436-438)cccfs	p.P146fs	GANAB_uc001nub.3_Frame_Shift_Ins_p.P146fs|GANAB_uc001nuc.3_Frame_Shift_Ins_p.P49fs|GANAB_uc010rma.2_Frame_Shift_Ins_p.P32fs|GANAB_uc010rmb.2_Frame_Shift_Ins_p.P32fs	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	146					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGATCTTGTAGGGTCCCTCAGC	0.480													46	138	---	---	---	---					
SLTM	79811	broad.mit.edu	37	15	59182525	59182526	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:59182525_59182526delTC	uc002afp.3	-	14	2121_2122	c.2033_2034delGA	c.(2032-2034)agafs	p.R678fs	SLTM_uc002afn.3_Frame_Shift_Del_p.R220fs|SLTM_uc002afo.3_Frame_Shift_Del_p.R660fs|SLTM_uc002afq.3_Frame_Shift_Del_p.R247fs|SLTM_uc010bgd.3_Frame_Shift_Del_p.R247fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	678	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCGTTCCATTCTCTCTCTCTC	0.431													7	392	---	---	---	---					
ROCK1	6093	broad.mit.edu	37	18	18690838	18690839	+	In_Frame_Ins	INS	-	AAA	AAA			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr18:18690838_18690839insAAA	uc002kte.3	-	0	974_975	c.33_34insTTT	c.(31-36)insTTT	p.11_12insF		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	11					Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCATTTTTTCAAATCGAGTCT	0.485													43	140	---	---	---	---					
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	-	-	rs63544660		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:278688_278690delCGG	uc002wdf.3	+	0	485_487	c.461_463delCGG	c.(460-465)ccggcg>ccg	p.A159del		NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	Homo sapiens zinc finger, CCHC domain containing 3 (ZCCHC3), mRNA.	159	Poly-Ala.						nucleic acid binding|zinc ion binding	p.A159delA(6)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768													3	4	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	-	-	rs78182391		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			2	4	---	---	---	---					
