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
KIAA1109	84162	broad.mit.edu	37	4	123229169	123229169	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:123229169C>A	ENST00000264501.4	+	58	10280	c.9907C>A	c.(9907-9909)Cat>Aat	p.H3303N	KIAA1109_ENST00000455637.1_Missense_Mutation_p.H3303N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H3303N			Q2LD37	K1109_HUMAN	KIAA1109	3303					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.H3303N(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATGGCTTTACATAAGGATAT	0.413000													167	366					7.12906e-66	1.07443e-65	1	1	0
ADCK2	90956	broad.mit.edu	37	7	140380905	140380905	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:140380905G>C	ENST00000072869.4	+	4	1451	c.1273G>C	c.(1273-1275)Gca>Cca	p.A425P	ADCK2_ENST00000476491.1_Missense_Mutation_p.A425P	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	425	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity	p.A425P(2)		cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AAGGAAGATTGCACGGCTGGG	0.567000													12	44					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452550	58452550	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:58452550G>T	ENST00000282308.3	-	3	1822	c.1626C>A	c.(1624-1626)acC>acA	p.T542T	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	542					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GCCTTTCTCCGGTGTGACTTC	0.463000													11	99					0.00829132	0.00839694	1	1	0
F8	2157	broad.mit.edu	37	X	154158393	154158393	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:154158393G>T	ENST00000360256.4	-	14	3872	c.3672C>A	c.(3670-3672)atC>atA	p.I1224I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1224	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.I1224I(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATTCTCTTGGATTAATGTTT	0.313000													59	143					4.96213e-28	6.52049e-28	1	1	0
MAP7D3	79649	broad.mit.edu	37	X	135318499	135318499	+	Splice_Site	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:135318499C>A	ENST00000316077.9	-	7	861		c.e7-1		MAP7D3_ENST00000370661.1_Splice_Site|MAP7D3_ENST00000370663.5_Splice_Site	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3							cytoplasm|spindle		p.?(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCTGTTTTCCCTAGAGAGCAA	0.353000													50	96					4.25531e-23	5.45641e-23	1	1	0
NTRK1	4914	broad.mit.edu	37	1	156845459	156845459	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:156845459G>T	ENST00000368196.3	+	11	1603		c.e11+1		NTRK1_ENST00000524377.1_Splice_Site|NTRK1_ENST00000392302.2_Splice_Site|NTRK1_ENST00000358660.3_Splice_Site	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1						activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.?(4)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	AGTGATGCCTGTGAGGGGCTA	0.577000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			25	39					4.87955e-14	5.7684e-14	1	1	0
CFAP54	144535	broad.mit.edu	37	12	97051666	97051666	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:97051666G>C	ENST00000524981.3	+	4	460	c.460G>C	c.(460-462)Gaa>Caa	p.E154Q				Q6ZTY8	CL063_HUMAN		128								p.E128Q(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						GCAGCCTATTGAAGACAAAGG	0.323000													15	490					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134261164	134261164	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:134261164C>A	ENST00000457545.2	+	9	1067	c.807C>A	c.(805-807)caC>caA	p.H269Q	AKR1B15_ENST00000423958.1_Missense_Mutation_p.H241Q	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	269							oxidoreductase activity	p.H269Q(2)|p.H241Q(2)|p.H287Q(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTGCAAAGCACAAAAAAACCA	0.443000													9	71					0.010729	0.0108312	1	1	0
C3orf27	23434	broad.mit.edu	37	3	128292256	128292256	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:128292256T>C	ENST00000356020.2	-	3	1283	c.317A>G	c.(316-318)cAc>cGc	p.H106R		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	106								p.H106R(2)		large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		AGGCCCACAGTGGCACAGCAG	0.577000													35	68					0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64695897	64695897	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:64695897G>T	ENST00000164133.2	+	6	1344	c.722_splice	c.e6+1	p.R241_splice		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	241					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R241L(2)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						ATCTTCCTCCGGTGAGTGGCT	0.607000													18	58					5.35356e-11	6.1019e-11	1	1	0
FAT3	120114	broad.mit.edu	37	11	92623916	92623916	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:92623916C>A	ENST00000298047.6	+	27	13424	c.13407C>A	c.(13405-13407)tcC>tcA	p.S4469S	FAT3_ENST00000533797.1_Silent_p.S772S|FAT3_ENST00000525166.1_Silent_p.S4319S|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Silent_p.S4437S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4469	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S1044S(2)|p.S4437S(2)|p.S4469S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCCACCCTCCCAGCCTGTCT	0.592000										TCGA Ovarian(4;0.039)			10	16					5.50884e-06	5.87856e-06	1	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361828	105361828	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:105361828C>G	ENST00000369774.4	-	15	3423	c.3147G>C	c.(3145-3147)caG>caC	p.Q1049H	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.Q884H|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.Q1021H|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.Q916H			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1049					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	p.Q1021H(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TGCTGTTGCGCTGGGCGGGCA	0.622000													35	50					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394679	64394679	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:64394679T>C	ENST00000262043.3	+	4	1396	c.1056T>C	c.(1054-1056)aaT>aaC	p.N352N	PHF3_ENST00000393387.1_Silent_p.N352N|PHF3_ENST00000509330.1_Silent_p.N352N			Q92576	PHF3_HUMAN	PHD finger protein 3	352					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.N352N(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTTGTACAAATCCAAATAAGA	0.373000													8	174					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110496262	110496262	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:110496262A>G	ENST00000324068.1	-	4	647	c.480T>C	c.(478-480)aaT>aaC	p.N160N	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	160	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.N160N(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCAGCAGAGCATTCCAAAACT	0.428000													138	291					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81049602	81049602	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:81049602G>A	ENST00000334512.5	+	9	1068	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	166					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	p.V166M(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTCCCTTTCCGTGGTCACCAC	0.577000													11	128					0	0	1	0	0
NUP43	348995	broad.mit.edu	37	6	150057694	150057694	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:150057694T>C	ENST00000340413.2	-	6	779	c.703A>G	c.(703-705)Act>Gct	p.T235A	NUP43_ENST00000367404.4_Intron|NUP43_ENST00000460354.2_Missense_Mutation_p.T235A|NUP43_ENST00000367403.3_3'UTR	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	235					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	p.T235A(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)		TGGCCACCAGTAGCTACAACA	0.438000													33	99					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357646	118357646	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:118357646C>T	ENST00000528052.1	+	8	853	c.782C>T	c.(781-783)tCt>tTt	p.S261F	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S261F|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S261F			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	261					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.S261F(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AATGCCCTGTCTCAGATCGTG	0.527000													16	37					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50092041	50092041	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:50092041T>C	ENST00000371564.3	-	4	1708	c.1489A>G	c.(1489-1491)Aaa>Gaa	p.K497E	NFATC2_ENST00000396009.3_Missense_Mutation_p.K497E|NFATC2_ENST00000414705.1_Missense_Mutation_p.K477E	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	497	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.K497E(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCCAGGACTTTGGTGTTGCCC	0.572000													114	109					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011313	105011313	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:105011313G>A	ENST00000372582.1	+	11	2476	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E574K|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.E179K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	574					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.E574K(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGACTCCGCAGAACAAGGACT	0.438000													92	162					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31864557	31864557	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:31864557C>A	ENST00000396184.3	-	14	1534	c.1330G>T	c.(1330-1332)Gac>Tac	p.D444Y	PDE1C_ENST00000396182.2_Missense_Mutation_p.D444Y|PDE1C_ENST00000396191.1_Missense_Mutation_p.D444Y|PDE1C_ENST00000321453.7_Missense_Mutation_p.D444Y|PDE1C_ENST00000396193.1_Missense_Mutation_p.D504Y	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	444	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.D444Y(2)|p.D504Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCGGTCATGTCCGTAAGCACA	0.488000													129	308					6.69235e-45	9.71765e-45	1	1	0
NRK	203447	broad.mit.edu	37	X	105132286	105132286	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:105132286G>T	ENST00000428173.2	+	5	555		c.e5-1		NRK_ENST00000536164.1_Splice_Site|NRK_ENST00000243300.9_Splice_Site			Q7Z2Y5	NRK_HUMAN	Nik related kinase								ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.?(4)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTATTCCATAGGATGAGGAAG	0.398000										HNSCC(51;0.14)			21	30					2.89027e-11	3.30613e-11	1	1	0
SMG1	23049	broad.mit.edu	37	16	18823123	18823123	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:18823123C>A	ENST00000446231.2	-	62	11280	c.10868G>T	c.(10867-10869)cGa>cTa	p.R3623L	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.R3624L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3623					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R3619L(2)|p.R3623L(2)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATCAACATCTCGGCCCTCTAA	0.443000													504	924					2.09999e-105	3.33898e-105	1	1	0
AGMO	392636	broad.mit.edu	37	7	15601381	15601381	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:15601381G>C	ENST00000342526.3	-	1	259	c.90C>G	c.(88-90)ttC>ttG	p.F30L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	30					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.F30L(2)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CTAATGTTTGGAATGAAGTTT	0.403000													104	188					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811180	5811180	+	Missense_Mutation	SNP	C	C	G	rs4017999		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:5811180C>G	ENST00000381095.3	-	6	2756	c.2129G>C	c.(2128-2130)cGc>cCc	p.R710P	NLGN4X_ENST00000381092.1_Missense_Mutation_p.R710P|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R710P|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R730P|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R710P	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	710					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.R710P(2)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGGACTGGGGCGCCTGTGAGT	0.532000													45	62					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104709469	104709469	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:104709469G>C	ENST00000406091.3	+	2	332	c.332G>C	c.(331-333)tGc>tCc	p.C111S		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	142	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.C111S(2)|p.C147S(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTCATATTGCCAAACAAAG	0.423000										HNSCC(12;0.0054)			317	1133					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899874	151899874	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:151899874A>G	ENST00000393900.3	-	3	1280	c.927T>C	c.(925-927)ttT>ttC	p.F309F	MAGEA12_ENST00000357916.4_Silent_p.F309F|MAGEA12_ENST00000393869.3_Silent_p.F309F|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	309								p.F309F(2)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCTCTCTAAAAGCCCATT	0.557000													185	372					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72038818	72038818	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:72038818T>A	ENST00000378743.3	-	4	1476	c.1118A>T	c.(1117-1119)cAg>cTg	p.Q373L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	373					RNA processing	intracellular	metal ion binding	p.Q373L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAGGCGAAGCTGTAATTCAGA	0.333000													19	49					0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785501	134785501	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:134785501G>T	ENST00000537858.1	-	2	329	c.129C>A	c.(127-129)gaC>gaA	p.D43E		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	43	FHA.							p.D43E(2)		breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGGTGGGCGTCCTGCCCCC	0.657000													14	8					8.04996e-18	9.92204e-18	1	1	0
PSG8	440533	broad.mit.edu	37	19	43359723	43359723	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:43359723C>A	ENST00000401467.2	-	1	120	c.49G>T	c.(49-51)Ggg>Tgg	p.G17W	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	17						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGCAGGACCCCCTTCCATTTG	0.572000													104	85					9.88213e-40	1.39049e-39	1	1	0
CNTN6	27255	broad.mit.edu	37	3	1427297	1427297	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:1427297C>A	ENST00000446702.2	+	20	3147	c.2520C>A	c.(2518-2520)gtC>gtA	p.V840V	CNTN6_ENST00000350110.2_Silent_p.V840V|CNTN6_ENST00000539053.1_Silent_p.V768V			Q9UQ52	CNTN6_HUMAN	contactin 6	840	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.V840V(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTATCAGGTCTTATACTGGA	0.358000													32	197					3.28013e-08	3.59683e-08	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151162731	151162731	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:151162731T>A	ENST00000282466.3	-	4	5037	c.5038A>T	c.(5038-5040)Att>Ttt	p.I1680F		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1680	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.I1680F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCCAATGAATGGTGGGCAGG	0.398000													9	111					0	0	1	0	0
SIMC1	375484	broad.mit.edu	37	5	175763780	175763780	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:175763780C>A	ENST00000443967.1	+	10	2579	c.2172C>A	c.(2170-2172)atC>atA	p.I724I	SIMC1_ENST00000430704.2_Silent_p.I309I|SIMC1_ENST00000341199.6_Silent_p.I309I|SIMC1_ENST00000332772.4_Silent_p.I185I					SUMO-interacting motifs containing 1									p.I724I(2)									TGTTAGAAATCATATTCCTCC	0.483000													134	64					5.80039e-70	8.91074e-70	1	1	0
MAST1	22983	broad.mit.edu	37	19	12951309	12951309	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:12951309A>T	ENST00000251472.4	+	2	172	c.133A>T	c.(133-135)Acg>Tcg	p.T45S	MAST1_ENST00000591495.1_Missense_Mutation_p.T41S	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	45					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.T45S(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CACTTCACCCACGCTACCGAG	0.662000													3	7					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19955796	19955796	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:19955796C>A	ENST00000396085.1	+	7	2367	c.2006C>A	c.(2005-2007)aCt>aAt	p.T669N	NAV2_ENST00000396087.3_Missense_Mutation_p.T692N|NAV2_ENST00000360655.4_Missense_Mutation_p.T605N|NAV2_ENST00000527559.2_Missense_Mutation_p.T621N|NAV2_ENST00000540292.1_Missense_Mutation_p.T623N|NAV2_ENST00000349880.4_Missense_Mutation_p.T669N	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	692						nucleus	ATP binding|helicase activity	p.T692N(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CATCCCAACACTGCCACGGTT	0.552000													40	88					1.465e-08	1.61761e-08	1	1	0
HAUS4	54930	broad.mit.edu	37	14	23421768	23421768	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:23421768T>C	ENST00000206474.7	-	3	432	c.180A>G	c.(178-180)ctA>ctG	p.L60L	HAUS4_ENST00000555367.1_Silent_p.L60L|HAUS4_ENST00000397409.4_Silent_p.L60L|HAUS4_ENST00000347758.2_Silent_p.L60L|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000342454.8_Silent_p.L60L|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000541587.1_Silent_p.L60L|HAUS4_ENST00000490506.1_Intron|HAUS4_ENST00000555986.1_Silent_p.L60L			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	60					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.L60L(2)		breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GCTCCTTTGCTAGGGTGAGGC	0.468000													38	84					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34312507	34312507	+	Silent	SNP	G	G	A	rs143306375		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:34312507G>A	ENST00000373381.4	-	6	1187	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	297						integral to membrane|plasma membrane	protein binding	p.R297R(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTGAATCCGCGCTGCCGGT	0.607000													286	100					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156347121	156347121	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:156347121G>A	ENST00000400992.2	+	3	378	c.10G>A	c.(10-12)Gtg>Atg	p.V4M	RHBG_ENST00000451864.2_Missense_Mutation_p.V4M|RHBG_ENST00000368246.2_Missense_Mutation_p.V73M|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000255013.3_Missense_Mutation_p.V4M|RHBG_ENST00000368249.1_Missense_Mutation_p.V73M			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	73					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.V73M(2)|p.V4M(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CATGGTCTTCGTGGGCTTTGG	0.627000													5	185					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131186710	131186710	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:131186710G>A	ENST00000337057.3	-	17	2976	c.2795C>T	c.(2794-2796)tCc>tTc	p.S932F	EPB41L2_ENST00000524581.1_Missense_Mutation_p.S310F|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S862F|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S932F|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S674F|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S674F|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S738F|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S633F|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S862F|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S779F|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000531410.1_Missense_Mutation_p.S53F	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	932	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	p.S932F(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGTTGACACGGACTCAGATGT	0.458000													16	637					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47699995	47699995	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr21:47699995T>C	ENST00000397708.1	-	5	1833	c.1579A>G	c.(1579-1581)Agc>Ggc	p.S527G	MCM3AP_ENST00000291688.1_Missense_Mutation_p.S527G			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	527					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.S527G(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GTGCTCGGGCTGACTTCACCG	0.532000													35	76					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129264072	129264072	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:129264072G>A	ENST00000287295.3	-	15	1873	c.1643C>T	c.(1642-1644)cCg>cTg	p.P548L	AIFM1_ENST00000460436.2_Missense_Mutation_p.P209L|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Missense_Mutation_p.P196L|AIFM1_ENST00000319908.3_Missense_Mutation_p.P544L|AIFM1_ENST00000346424.2_Missense_Mutation_p.P261L	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	548					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.P544L(2)|p.P548L(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TGGAACTGCCGGGGTGCTGGG	0.542000													158	283					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141259374	141259374	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:141259374G>T	ENST00000286364.3	+	5	485		c.e5-1		RASA2_ENST00000452898.1_Splice_Site			Q15283	RASA2_HUMAN	RAS p21 protein activator 2						intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	p.?(4)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGTCATTATAGGGTAAAGTTC	0.328000													65	100					7.31121e-38	1.01527e-37	1	1	0
GABRA5	2558	broad.mit.edu	37	15	27128556	27128556	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr15:27128556C>T	ENST00000335625.5	+	6	1237	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	GABRA5_ENST00000355395.5_Missense_Mutation_p.R117C|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R117C|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	117					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R117C(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCCATGCAGCGCCTCCCTCT	0.537000													56	88					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196636546	196636546	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:196636546C>A	ENST00000312428.6	-	61	11371	c.11271G>T	c.(11269-11271)ttG>ttT	p.L3757F	DNAH7_ENST00000409063.1_Missense_Mutation_p.L240F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3757					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3757F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAAGTTTGCCCAAGATGTCAC	0.443000													548	338					1.0624e-194	1.75048e-194	1	1	0
BNC1	646	broad.mit.edu	37	15	83926569	83926569	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr15:83926569G>A	ENST00000345382.2	-	5	2695	c.2610C>T	c.(2608-2610)agC>agT	p.S870S	BNC1_ENST00000569704.1_Silent_p.S863S|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	870	Ser-rich.				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S870S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGGAAGAATGGCTGCTACTCT	0.572000													12	247					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119659495	119659495	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:119659495C>A	ENST00000379735.5	-	19	2691	c.2420G>T	c.(2419-2421)cGg>cTg	p.R807L	SEC24D_ENST00000419654.2_Missense_Mutation_p.R362L|SEC24D_ENST00000280551.6_Missense_Mutation_p.R806L|SEC24D_ENST00000429811.2_Missense_Mutation_p.R362L|SEC24D_ENST00000511481.1_Missense_Mutation_p.R437L|SEC24D_ENST00000505134.1_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	806					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.R806L(2)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TAGAATTTCCCGGATGACCTT	0.423000													103	222					1.56001e-33	2.12911e-33	1	1	0
DDX49	54555	broad.mit.edu	37	19	19033422	19033422	+	Silent	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:19033422C>T	ENST00000438170.2	+	7	736	c.324C>T	c.(322-324)acC>acT	p.T108T	DDX49_ENST00000247003.4_Silent_p.T215T|DDX49_ENST00000599156.1_Intron|AC002985.3_ENST00000596918.1_Intron			Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	215	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.T215T(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GGGTGAGCACCGTGGAGCAGC	0.637000													6	21					0	0	1	0	0
EMC1	23065	broad.mit.edu	37	1	19564614	19564614	+	Missense_Mutation	SNP	T	T	C	rs144675935		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:19564614T>C	ENST00000477853.1	-	11	1151	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S	EMC1_ENST00000375199.3_Missense_Mutation_p.N369S|EMC1_ENST00000375208.3_Missense_Mutation_p.N348S|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1									p.N370S(2)									GTAGGTCTGATTGAAGCAAGC	0.547000													17	75					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977623	107977623	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:107977623C>G	ENST00000372129.2	-	1	2028	c.1952G>C	c.(1951-1953)gGa>gCa	p.G651A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	651						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.G651A(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTGAATCTTCCCCCAGACTT	0.493000													8	228					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39454487	39454487	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr13:39454487C>T	ENST00000280481.7	+	24	9289	c.9073C>T	c.(9073-9075)Cga>Tga	p.R3025*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3025					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R3025*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAATGCCAATCGAGGTATTGG	0.448000													4	133					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65420411	65420411	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:65420411C>T	ENST00000519389.1	+	12	2235	c.2056C>T	c.(2056-2058)Ccc>Tcc	p.P686S	HEPH_ENST00000441993.2_Missense_Mutation_p.P635S|HEPH_ENST00000374727.3_Missense_Mutation_p.P635S|HEPH_ENST00000343002.2_Missense_Mutation_p.P632S|HEPH_ENST00000336279.5_Missense_Mutation_p.P365S|HEPH_ENST00000419594.1_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	632	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.P632S(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTCTAACCTGCCCAGGCTGGA	0.547000													28	65					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071071	9071071	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:9071071G>T	ENST00000397910.4	-	3	16578	c.16375C>A	c.(16375-16377)Ctg>Atg	p.L5459M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5461	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L5459M(4)|p.L1092M(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTCCCCCAGGGTGGAGGTG	0.498000													175	422					3.46395e-70	5.34727e-70	1	1	0
MKI67	4288	broad.mit.edu	37	10	129904904	129904904	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:129904904T>A	ENST00000368654.3	-	13	5575	c.5200A>T	c.(5200-5202)Aaa>Taa	p.K1734*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1374*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1734	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.K1734*(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAGGATACTTTGGTAGTTTTT	0.488000													49	80					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47107098	47107098	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:47107098G>T	ENST00000377107.2	+	20	2979	c.2625_splice	c.e20+1	p.E875_splice	USP11_ENST00000218348.3_Splice_Site_p.E918_splice			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	918					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E918D(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ATCAGATCGAGGTGTGACTTC	0.537000													73	135					2.97807e-44	4.30466e-44	1	1	0
CYP4F22	126410	broad.mit.edu	37	19	15651310	15651310	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:15651310G>T	ENST00000269703.2	+	8	920	c.721G>T	c.(721-723)Gtc>Ttc	p.V241F	CYP4F22_ENST00000601005.2_Missense_Mutation_p.V241F	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	241						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.V241F(2)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGCTCTGTCTGTCCGGCGCCA	0.557000													30	80					1.36615e-20	1.71713e-20	1	1	0
MTR	4548	broad.mit.edu	37	1	237052487	237052487	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:237052487C>T	ENST00000366577.5	+	28	3252	c.2858C>T	c.(2857-2859)cCc>cTc	p.P953L	MTR_ENST00000535889.1_Missense_Mutation_p.P902L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	953	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.P953L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTAGTGAAGCCCACGTTTATT	0.557000													53	145					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40798230	40798230	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:40798230C>A	ENST00000397128.2	-	1	70	c.62G>T	c.(61-63)cGg>cTg	p.R21L	PRKAA1_ENST00000296800.4_Missense_Mutation_p.R12L|PRKAA1_ENST00000354209.3_Missense_Mutation_p.R21L	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	21					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	p.R21L(2)		breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	GATCTTCACCCGCCCGTCGTG	0.667000													12	20					9.7654e-05	0.000101484	1	1	0
B4GALNT1	2583	broad.mit.edu	37	12	58023958	58023958	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:58023958T>C	ENST00000341156.4	-	6	1273	c.689A>G	c.(688-690)tAc>tGc	p.Y230C	B4GALNT1_ENST00000552350.1_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.Y175C	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	230					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.Y230C(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTTGGTCTGGTAGCTTCGGCT	0.572000													38	100					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37126007	37126007	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:37126007G>T	ENST00000262879.6	+	4	685	c.401G>T	c.(400-402)gGt>gTt	p.G134V	RALGAPB_ENST00000397042.3_Missense_Mutation_p.G134V|RALGAPB_ENST00000397040.1_Missense_Mutation_p.G134V|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000537204.1_Missense_Mutation_p.G134V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	134					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.G134V(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGGAACAGGGTTCCAGTCAG	0.498000													38	18					1.23713e-20	1.56114e-20	1	1	0
TULP3	7289	broad.mit.edu	37	12	3042678	3042678	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:3042678G>A	ENST00000448120.2	+	7	842	c.791G>A	c.(790-792)aGt>aAt	p.S264N	TULP3_ENST00000397132.2_Missense_Mutation_p.S264N	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	264					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	p.S264N(1)		endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GAAGGAGAAAGTTATGTCGGC	0.398000													6	147					0	0	1	0	0
EXOSC7	23016	broad.mit.edu	37	3	45038682	45038682	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:45038682G>T	ENST00000265564.7	+	4	406	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	120					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding	p.D120Y(2)		endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		AAGCAGTGTCGACTTAAAGAC	0.488000													56	137					4.1673e-28	5.49877e-28	1	1	0
PCDH19	57526	broad.mit.edu	37	X	99551355	99551355	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:99551355G>T	ENST00000373034.4	-	6	5042	c.3367C>A	c.(3367-3369)Cat>Aat	p.H1123N	PCDH19_ENST00000420881.2_Missense_Mutation_p.H1075N|PCDH19_ENST00000255531.7_Missense_Mutation_p.H1076N	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1123					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H1123N(1)|p.H576N(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTGACCTCATGCATGACTTTC	0.527000													289	540					5.121e-155	8.35117e-155	1	1	0
TLR6	10333	broad.mit.edu	37	4	38831004	38831004	+	Nonsense_Mutation	SNP	C	C	A	rs138225547		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:38831004C>A	ENST00000436693.2	-	2	210	c.91G>T	c.(91-93)Gga>Tga	p.G31*	TLR6_ENST00000381950.1_Nonsense_Mutation_p.G31*	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	31					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	p.G31*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTCATTTCCGTCGGAGAAC	0.373000													64	149					1.20873e-29	1.61503e-29	1	1	0
FLNC	2318	broad.mit.edu	37	7	128496848	128496848	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:128496848C>A	ENST00000325888.8	+	45	7695	c.7434C>A	c.(7432-7434)atC>atA	p.I2478I	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.I2445I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2478	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.I2478I(2)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCACTCCATCGATGTCAAGT	0.592000													24	29					4.3181e-19	5.38492e-19	1	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821138	5821138	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:5821138C>A	ENST00000381095.3	-	5	2208	c.1581G>T	c.(1579-1581)tgG>tgT	p.W527C	NLGN4X_ENST00000381092.1_Missense_Mutation_p.W527C|NLGN4X_ENST00000275857.6_Missense_Mutation_p.W527C|NLGN4X_ENST00000381093.2_Missense_Mutation_p.W547C|NLGN4X_ENST00000538097.1_Missense_Mutation_p.W527C	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	527					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.W527C(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGAAGTTCGTCCAGTAGGTCA	0.502000													8	169					3.86212e-05	4.03998e-05	1	1	0
DSC2	1824	broad.mit.edu	37	18	28663009	28663009	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr18:28663009C>A	ENST00000280904.6	-	8	1403	c.960G>T	c.(958-960)caG>caT	p.Q320H	DSC2_ENST00000251081.6_Missense_Mutation_p.Q320H	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	320	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.Q320H(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTATTTTCAACTGGTACTTGT	0.299000													11	59					0.00010058	0.000104184	1	1	0
GABBR2	9568	broad.mit.edu	37	9	101235551	101235551	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr9:101235551C>A	ENST00000259455.2	-	6	1335	c.876G>T	c.(874-876)caG>caT	p.Q292H	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	292					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.Q292H(2)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CCGTGTGCACCTGCTCCCACC	0.537000													62	56					4.66136e-34	6.41694e-34	1	1	0
CDH23	64072	broad.mit.edu	37	10	73270728	73270728	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:73270728C>A	ENST00000224721.6	+	4	311	c.306C>A	c.(304-306)acC>acA	p.T102T	CDH23_ENST00000461841.3_Silent_p.T147T|CDH23_ENST00000398842.3_Silent_p.T102T|CDH23_ENST00000398809.4_Silent_p.T102T|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000299366.7_Silent_p.T147T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	102	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.T102T(4)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGAGTTCACCGTGGAGTTCT	0.617000													23	45					2.61193e-14	3.09923e-14	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113988081	113988081	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:113988081C>A	ENST00000297405.5	-	7	1571	c.1327G>T	c.(1327-1329)Gtt>Ttt	p.V443F	CSMD3_ENST00000343508.3_Missense_Mutation_p.V403F|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.V443F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	443						integral to membrane|plasma membrane		p.V403F(2)|p.V443F(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAGTAACAACTGCAAGCTCT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			55	155					2.20561e-19	2.76136e-19	1	1	0
C10orf71	118461	broad.mit.edu	37	10	50531828	50531828	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:50531828C>T	ENST00000374144.3	+	3	1526	c.1238C>T	c.(1237-1239)aCa>aTa	p.T413I	C10orf71_ENST00000323868.4_Missense_Mutation_p.T413I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	413								p.T413I(2)		endometrium(1)	1						CCTTTGTATACAAAACACAAC	0.438000													7	155					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12976793	12976793	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:12976793G>T	ENST00000251472.4	+	17	1945		c.e17-1			NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1						cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.?(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TTCCGTCCCAGGCGGCGCTTT	0.652000													6	8					5.18039e-06	5.58429e-06	1	1	0
OR2T10	127069	broad.mit.edu	37	1	248757058	248757058	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:248757058G>T	ENST00000330500.2	-	1	42	c.12C>A	c.(10-12)gcC>gcA	p.A4A		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A4A(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGTCTGGTTGGCCAGCCGCA	0.458000													43	88					1.5731e-28	2.08436e-28	1	1	0
OTUD7B	56957	broad.mit.edu	37	1	149915924	149915924	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:149915924C>A	ENST00000369135.3	-	12	2658	c.2364G>T	c.(2362-2364)tgG>tgT	p.W788C		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	788					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	p.W788C(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GACCTCCAGCCCATCCATCTG	0.547000													102	223					1.44786e-46	2.11202e-46	1	1	0
EPX	8288	broad.mit.edu	37	17	56270454	56270454	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:56270454G>C	ENST00000225371.5	+	2	242	c.132G>C	c.(130-132)aaG>aaC	p.K44N		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	44					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.K44N(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CAGAGGCCAAGTTGCTGGTGG	0.617000													121	244					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55361675	55361675	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:55361675C>A	ENST00000290552.7	+	4	1923	c.591C>A	c.(589-591)ttC>ttA	p.F197L	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	197						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F197L(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCACCTGGTTCGCCAACGCAC	0.577000													21	48					1.96895e-08	2.16652e-08	1	1	0
IDS	3423	broad.mit.edu	37	X	148564704	148564704	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:148564704G>A	ENST00000340855.6	-	9	1435	c.1226C>T	c.(1225-1227)aCg>aTg	p.T409M	IDS_ENST00000537071.1_Missense_Mutation_p.T12M|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_Missense_Mutation_p.T198M	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	409						lysosome	iduronate-2-sulfatase activity|metal ion binding	p.T409M(2)		NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCAGCCAGCGTGGGAAAAAG	0.512000													47	155					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89920950	89920950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:89920950G>T	ENST00000405460.2	+	6	658	c.562G>T	c.(562-564)Gag>Tag	p.E188*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	188					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.E188*(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTGCAGGTAGAGGGTGGCCC	0.393000													37	15					3.38236e-24	4.37232e-24	1	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64133210	64133210	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:64133210G>T	ENST00000295902.6	-	7	1541	c.956C>A	c.(955-957)tCt>tAt	p.S319Y	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S375Y	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	319						cytoplasm|nuclear membrane	zinc ion binding	p.S319Y(2)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGAGGAGTCAGAACCATTGGG	0.607000													22	113					4.7796e-09	5.37072e-09	1	1	0
OR14I1	401994	broad.mit.edu	37	1	248845133	248845133	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:248845133G>T	ENST00000342623.3	-	1	496	c.473C>A	c.(472-474)aCt>aAt	p.T158N		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T158N(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CATGTTGCCAGTGTGGACGGC	0.547000													26	64					1.2476e-16	1.52006e-16	1	1	0
KRT3	3850	broad.mit.edu	37	12	53189527	53189527	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:53189527G>T	ENST00000417996.2	-	1	374	c.300C>A	c.(298-300)ggC>ggA	p.G100G	KRT3_ENST00000309505.3_Silent_p.G100G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	100	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	p.G100G(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						cacctccatagccgctcccaa	0.652000													9	15					2.52707e-12	2.91162e-12	1	1	0
BPI	671	broad.mit.edu	37	20	36964032	36964032	+	Missense_Mutation	SNP	C	C	A	rs143433981		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:36964032C>A	ENST00000262865.4	+	14	1470	c.1381C>A	c.(1381-1383)Ccg>Acg	p.P461T	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	461					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.P461T(2)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCTCCCGACGCCGGCCAGAGT	0.562000													98	98					2.52272e-32	3.38492e-32	1	1	0
SOX30	11063	broad.mit.edu	37	5	157053465	157053465	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:157053465G>A	ENST00000265007.6	-	5	2486	c.2145C>T	c.(2143-2145)gaC>gaT	p.D715D	SOX30_ENST00000519442.1_Silent_p.D410D|SOX30_ENST00000311371.5_3'UTR	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	715					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.D715D(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGTTCCAATGTCCAGCTGAG	0.453000													6	170					0	0	1	0	0
C14orf105	55195	broad.mit.edu	37	14	57960335	57960335	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:57960335A>G	ENST00000216445.3	-	1	235	c.99T>C	c.(97-99)ttT>ttC	p.F33F	C14orf105_ENST00000526336.1_Silent_p.F33F|C14orf105_ENST00000534126.1_Silent_p.F33F|C14orf105_ENST00000422976.2_Silent_p.F33F	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	33								p.F33F(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						GATTGAATGCAAAGTCCACAC	0.463000													96	225					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729409	62729409	+	Missense_Mutation	SNP	C	C	A	rs148381492		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:62729409C>A	ENST00000349451.3	+	5	900	c.488C>A	c.(487-489)aCg>aAg	p.T163K	OPRL1_ENST00000336866.2_Missense_Mutation_p.T163K|OPRL1_ENST00000355631.4_Missense_Mutation_p.T163K	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	163					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	p.T163K(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GACGTCCGCACGTCCAGCAAA	0.587000													3	10					0.004672	0.00474663	1	1	0
MYPN	84665	broad.mit.edu	37	10	69882001	69882001	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:69882001C>T	ENST00000358913.5	+	2	1294	c.806C>T	c.(805-807)cCc>cTc	p.P269L	MYPN_ENST00000373675.3_Missense_Mutation_p.P269L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.P269L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	269	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding	p.P269L(2)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGGCAACCTCCCCGGTTCACT	0.527000													19	93					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55716908	55716908	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:55716908G>T	ENST00000376350.3	-	4	427	c.405C>A	c.(403-405)atC>atA	p.I135I	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	135	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.I135I(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGGTCAGGGCGATGGAGCTGT	0.587000													25	18					3.28513e-13	3.82663e-13	1	1	0
STX18	53407	broad.mit.edu	37	4	4458978	4458978	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:4458978C>G	ENST00000306200.2	-	5	500	c.437G>C	c.(436-438)tGt>tCt	p.C146S	STX18_ENST00000505286.1_Missense_Mutation_p.C146S	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	146					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity	p.C146S(2)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		GTAAAGTTTACATACTCCTGT	0.353000													51	147					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080061	54080061	+	Missense_Mutation	SNP	T	T	C	rs146144933	byFrequency	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:54080061T>C	ENST00000253144.9	+	7	1580	c.247T>C	c.(247-249)Tgg>Cgg	p.W83R	ZNF331_ENST00000511154.1_Missense_Mutation_p.W83R|ZNF331_ENST00000511593.2_Missense_Mutation_p.W83R|ZNF331_ENST00000513999.1_Missense_Mutation_p.W83R|ZNF331_ENST00000513265.1_Missense_Mutation_p.W83R|ZNF331_ENST00000411977.2_Missense_Mutation_p.W83R|ZNF331_ENST00000512387.1_Missense_Mutation_p.W83R|ZNF331_ENST00000449416.1_Missense_Mutation_p.W83R	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W83R(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGGCCGTAACTGGATATGTGA	0.393000			T	?	follicular thyroid adenoma								3	49					0	0	1	0	0
CYP2D7	1564	broad.mit.edu	37	22	42538029	42538029	+	RNA	SNP	A	A	G	rs1058167	by1000genomes	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr22:42538029A>G	ENST00000433992.1	-	0	803				CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						TGGGATGTGCAGGAGGACGGG	0.592000													4	83					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124731954	124731954	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:124731954G>A	ENST00000311127.4	-	6	2536	c.2469C>T	c.(2467-2469)tcC>tcT	p.S823S		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	823						extracellular region|integral to membrane	calcium ion binding	p.S823S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TTTGCTCTGTGGAGGACTCTG	0.478000													62	125					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137722285	137722285	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:137722285G>A	ENST00000314358.5	+	7	1555	c.1355G>A	c.(1354-1356)gGc>gAc	p.G452D	KDM3B_ENST00000394866.1_Missense_Mutation_p.G108D|KDM3B_ENST00000542866.1_5'UTR	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	452					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.G452D(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAACAGAAAGGCAGCCGGTCG	0.527000													30	77					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144855788	144855788	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:144855788C>A	ENST00000369359.4	-	44	7211	c.7173G>T	c.(7171-7173)tgG>tgT	p.W2391C	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.W2340C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.W2149C|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.W2255C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.W2255C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2255					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.W2255C(4)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGCCGCTCTCCAGAACATGG	0.582000			T	PDGFRB	MPD								26	95					9.39395e-14	1.09826e-13	1	1	0
OR2T2	401992	broad.mit.edu	37	1	248616139	248616139	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:248616139T>G	ENST00000342927.3	+	1	63	c.41T>G	c.(40-42)gTc>gGc	p.V14G		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V14S(2)|p.V14A(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACTAACTTCGTCCTCACAGGC	0.502000													30	247					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10382279	10382279	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:10382279G>A	ENST00000397077.1	-	19	3467	c.2892C>T	c.(2890-2892)aaC>aaT	p.N964N	ATP2B2_ENST00000383800.4_Silent_p.N964N|ATP2B2_ENST00000360273.2_Silent_p.N1009N|ATP2B2_ENST00000352432.4_Silent_p.N1009N|ATP2B2_ENST00000343816.4_Silent_p.N995N			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1009					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.N1009N(2)|p.N964N(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTTGATCTCGTTGAAGAGCT	0.562000													115	383					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78325854	78325854	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:78325854C>A	ENST00000255189.3	-	11	1715	c.1687G>T	c.(1687-1689)Ggt>Tgt	p.G563C	DMGDH_ENST00000380311.4_Missense_Mutation_p.G362C|DMGDH_ENST00000540686.1_Missense_Mutation_p.G183C	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	563					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.G563C(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTTGTAAAACCCACCTACATA	0.348000													14	64					7.93312e-07	8.63949e-07	1	1	0
CCDC129	223075	broad.mit.edu	37	7	31690852	31690852	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:31690852C>T	ENST00000319386.3	+	12	3229	c.2236C>T	c.(2236-2238)Ctc>Ttc	p.L746F	CCDC129_ENST00000407970.3_Missense_Mutation_p.L894F|CCDC129_ENST00000409210.1_Missense_Mutation_p.L802F|CCDC129_ENST00000451887.2_Missense_Mutation_p.L920F			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	894								p.L894F(2)|p.L746F(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACAGCAGGCCCTCTTTTCCAG	0.473000													165	303					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059153	248059153	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:248059153G>T	ENST00000537741.1	+	3	522	c.265G>T	c.(265-267)Gac>Tac	p.D89Y	OR2W3_ENST00000360358.3_Missense_Mutation_p.D89Y			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D89Y(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TAATGGATGTGACAAGACCAT	0.567000													80	200					2.9056e-39	4.05255e-39	1	1	0
PRICKLE3	4007	broad.mit.edu	37	X	49032419	49032419	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:49032419C>A	ENST00000376317.3	-	9	1545	c.1451G>T	c.(1450-1452)gGa>gTa	p.G484V	PRICKLE3_ENST00000540849.1_Missense_Mutation_p.G416V|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.G403V|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.G320V	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	484				Missing (in Ref. 5; AAB92357).			protein binding|zinc ion binding	p.G484V(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						GCGCGGGCCTCCTTCAGACAC	0.701000													4	5					2.0095e-06	2.18096e-06	1	1	0
BTK	695	broad.mit.edu	37	X	100613339	100613339	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:100613339G>A	ENST00000308731.7	-	12	1224	c.1061C>T	c.(1060-1062)aCc>aTc	p.T354I	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	354	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.T354I(2)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTCAGGGATGGTGCTGAAAAG	0.502000									Agammaglobulinemia, X-linked				193	360					0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45568239	45568239	+	RNA	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:45568239C>A	ENST00000256692.5	-	0	446					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCCCAGGGCCACCAGCCGCC	0.473000													30	57					1.88708e-17	2.30805e-17	1	1	0
C10orf53	282966	broad.mit.edu	37	10	50916417	50916417	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:50916417C>A	ENST00000374112.3	+	3	240	c.228C>A	c.(226-228)acC>acA	p.T76T	C10orf53_ENST00000535836.1_Silent_p.T76T	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	79								p.T76T(2)		endometrium(1)|lung(6)	7		all_neural(218;0.107)				gcaagctcaccccaagtagtg	0.493000													83	160					1.39521e-32	1.89605e-32	1	1	0
ENO3	2027	broad.mit.edu	37	17	4857038	4857038	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:4857038G>T	ENST00000323997.6	+	6	474	c.342G>T	c.(340-342)gtG>gtT	p.V114V	ENO3_ENST00000519584.1_Silent_p.V71V|ENO3_ENST00000518175.1_Silent_p.V114V	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	114					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	p.V114V(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TCCTGGGCGTGTCCTTGGCCG	0.607000													57	79					3.74213e-36	5.1739e-36	1	1	0
MAGEE1	57692	broad.mit.edu	37	X	75648524	75648524	+	Silent	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:75648524C>T	ENST00000361470.2	+	1	479	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	67						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CAAGCACCTCCGTTCTGCCCA	0.682000													6	1					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000141	56000141	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:56000141C>A	ENST00000313264.4	-	1	596	c.521G>T	c.(520-522)aGc>aTc	p.S174I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S174I(2)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GGGTGACATGCTCACTGAATA	0.433000													318	555					7.31452e-187	1.19898e-186	1	1	0
NOLC1	9221	broad.mit.edu	37	10	103917833	103917833	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:103917833G>T	ENST00000405356.1	+	5	704	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S	NOLC1_ENST00000488254.2_Missense_Mutation_p.A158S|NOLC1_ENST00000605788.1_Missense_Mutation_p.A157S|NOLC1_ENST00000603742.1_5'UTR			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	157	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	p.A157S(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AGCCAAGGCAGCCAAAGCTCC	0.488000													38	80					1.86633e-21	2.36452e-21	1	1	0
OR10A4	283297	broad.mit.edu	37	11	6898596	6898596	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:6898596T>G	ENST00000379829.2	+	1	741	c.718T>G	c.(718-720)Tcc>Gcc	p.S240A		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S240A(2)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGGCATTCTCCACCTGTTC	0.507000													43	298					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													4	41					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20443793	20443793	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:20443793T>A	ENST00000305051.5	+	1	191	c.116T>A	c.(115-117)cTg>cAg	p.L39Q		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L39Q(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGTGTTGCTGGGACTGTCT	0.403000													218	315					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887584	23887584	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:23887584G>A	ENST00000355349.3	-	30	4166	c.4004C>T	c.(4003-4005)tCg>tTg	p.S1335L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335L(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGCCGGGCCGACTGCAGTGC	0.657000													4	32					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27428248	27428248	+	Silent	SNP	G	G	T	rs137936112		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:27428248G>T	ENST00000263980.3	-	10	2580	c.2005C>A	c.(2005-2007)Cgg>Agg	p.R669R	SLC9A1_ENST00000545949.1_Silent_p.R330R	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	669					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.R669R(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TTCTGCCTCCGGAGCAGCATC	0.637000													6	3					0.000157383	0.000161445	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31273080	31273080	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:31273080G>T	ENST00000544665.3	+	2	167	c.96G>T	c.(94-96)agG>agT	p.R32S	ITGAM_ENST00000287497.8_Missense_Mutation_p.R32S	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	32					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.R32S(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGAACGCAAGGGGCTTCGGGC	0.517000													99	165					3.90656e-58	5.77808e-58	1	1	0
EP400	57634	broad.mit.edu	37	12	132510236	132510236	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:132510236G>T	ENST00000333577.4	+	26	5118	c.5009G>T	c.(5008-5010)cGa>cTa	p.R1670L	EP400_ENST00000330386.6_Missense_Mutation_p.R1553L|EP400_ENST00000332482.4_Missense_Mutation_p.R1597L|EP400_ENST00000389562.2_Missense_Mutation_p.R1633L|EP400_ENST00000389561.2_Missense_Mutation_p.R1634L			Q96L91	EP400_HUMAN	E1A binding protein p400	1670					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.R1633L(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCTACCTTCGAGCCCCTGGC	0.672000													8	15					2.17888e-05	2.30961e-05	1	1	0
MARK1	4139	broad.mit.edu	37	1	220835506	220835506	+	Nonstop_Mutation	SNP	T	T	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:220835506T>G	ENST00000402574.1	+	17	2938	c.1936T>G	c.(1936-1938)Taa>Gaa	p.*646E	MARK1_ENST00000366918.4_Nonstop_Mutation_p.*759E|MARK1_ENST00000366917.4_Nonstop_Mutation_p.*796E	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	0					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.*796E(3)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GCTTAAGCTGTAAAGAAGTCC	0.393000													10	91					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112018498	112018498	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr9:112018498C>A	ENST00000374566.3	-	9	1364	c.847G>T	c.(847-849)Gat>Tat	p.D283Y	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.D283Y	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	283	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.D283Y(4)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCACAGCCATCTCTTCCCTAC	0.398000													99	110					9.53166e-59	1.41639e-58	1	1	0
SLC30A9	10463	broad.mit.edu	37	4	42003698	42003698	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:42003698G>C	ENST00000264451.6	+	2	355	c.175G>C	c.(175-177)Ggt>Cgt	p.G59R		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	59					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	p.G59R(2)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCATATATTGGTACCCTGAG	0.353000													115	232					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270018	114270018	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:114270018G>A	ENST00000393500.3	+	11	1150	c.330G>A	c.(328-330)caG>caA	p.Q110Q	FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q			O15409	FOXP2_HUMAN	forkhead box P2	185	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcaacagcagcagcagc	0.502000													19	65					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104335780	104335780	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr9:104335780G>T	ENST00000361820.3	-	9	3624	c.3024C>A	c.(3022-3024)ccC>ccA	p.P1008P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1008					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.P1008P(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TAAGCTGACGGGGTCCCACAT	0.448000													123	116					4.83698e-98	7.61466e-98	1	1	0
NUDT14	256281	broad.mit.edu	37	14	105639463	105639463	+	Silent	SNP	G	G	A	rs140616526	byFrequency	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:105639463G>A	ENST00000392568.2	-	5	657	c.564C>T	c.(562-564)ggC>ggT	p.G188G	NUDT14_ENST00000550912.1_5'UTR|RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	188	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGGCCTGGGCGCCTTCCAGGG	0.632000										HNSCC(42;0.11)			3	5					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32048735	32048735	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:32048735G>T	ENST00000438447.1	+	8	1998	c.1610G>T	c.(1609-1611)cGa>cTa	p.R537L	PDZD2_ENST00000282493.3_Missense_Mutation_p.R537L			O15018	PDZD2_HUMAN	PDZ domain containing 2	537					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.R537L(2)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGGTCTCCCGAGATGGCCGG	0.562000													12	67					2.23348e-06	2.41581e-06	1	1	0
COQ7	10229	broad.mit.edu	37	16	19087069	19087069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:19087069G>T	ENST00000321998.5	+	4	460	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	COQ7_ENST00000569127.1_Nonsense_Mutation_p.E109*|COQ7_ENST00000544894.2_Nonsense_Mutation_p.E94*|COQ7_ENST00000568985.1_Nonsense_Mutation_p.E132*	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	132	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	p.E132*(2)		breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						GCTCGGGAAGGAAGGTGCCAT	0.552000													16	101					1.45105e-14	1.72822e-14	1	1	0
SLC19A1	6573	broad.mit.edu	37	21	46935678	46935678	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr21:46935678T>A	ENST00000311124.4	-	6	1822	c.1670A>T	c.(1669-1671)gAg>gTg	p.E557V	SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000485649.2_Missense_Mutation_p.E517V|SLC19A1_ENST00000380010.4_Intron	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	557					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	p.E557V(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		ATCTGCAGCCTCAGGGCCTGA	0.622000													3	10					0	0	1	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128957764	128957764	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:128957764G>A	ENST00000357166.6	-	5	769	c.378C>T	c.(376-378)atC>atT	p.I126I	ZDHHC9_ENST00000491039.1_5'UTR|ZDHHC9_ENST00000371064.3_Silent_p.I126I	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	126						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.I126I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GGAAATTCTTGATACGAGGCG	0.493000													25	387					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016506	23016506	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:23016506A>T	ENST00000255008.3	+	1	450	c.386A>T	c.(385-387)aAc>aTc	p.N129I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	129					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.N129I(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GACGGCCTCAACATGTTCACC	0.701000													40	18					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151164070	151164070	+	Silent	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:151164070C>T	ENST00000282466.3	-	4	3698	c.3699G>A	c.(3697-3699)gtG>gtA	p.V1233V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1233					cell differentiation|multicellular organismal development|ossification	extracellular region		p.V1233V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGGAAGCATCACAGCTGTGC	0.383000													151	245					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43359724	43359724	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:43359724C>A	ENST00000401467.2	-	1	119	c.48G>T	c.(46-48)aaG>aaT	p.K16N	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	16						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GCAGGACCCCCTTCCATTTGA	0.572000													106	83					2.54656e-39	3.56743e-39	1	1	0
OR5V1	81696	broad.mit.edu	37	6	29323725	29323725	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:29323725A>G	ENST00000377154.1	-	4	547	c.248T>C	c.(247-249)gTg>gCg	p.V83A	OR5V1_ENST00000543825.1_Missense_Mutation_p.V83A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V83A(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGGAGGTGCACCATCATCTG	0.433000													20	752					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764395	82764395	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:82764395G>A	ENST00000423517.2	-	3	2808	c.2471C>T	c.(2470-2472)cCt>cTt	p.P824L	PCLO_ENST00000333891.8_Missense_Mutation_p.P824L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	770	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P824L(4)|p.P770L(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTGATGCAGGTCGAGGTAT	0.438000													111	195					0	0	1	0	0
LOC494141	494141	broad.mit.edu	37	11	18231289	18231289	+	Missense_Mutation	SNP	C	C	A	rs4757627	by1000genomes	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:18231289C>A	ENST00000527059.1	+	1	535	c.75C>A	c.(73-75)ttC>ttA	p.F25L	RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.F25L|RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.F25L																							CTAACATCTTCGAAACAAGAT	0.363000													7	176					0.000157383	0.000161445	1	1	0
OR10H4	126541	broad.mit.edu	37	19	16060247	16060247	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:16060247C>G	ENST00000322107.1	+	1	430	c.430C>G	c.(430-432)Cat>Gat	p.H144D		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	144			H -> R (in dbSNP:rs16980822).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H144D(2)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGACTGTGCCCATCTTGTGGC	0.542000													87	194					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158622310	158622310	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:158622310C>A	ENST00000368148.3	-	23	3502	c.3322G>T	c.(3322-3324)Gtg>Ttg	p.V1108L	SPTA1_ENST00000368147.3_Missense_Mutation_p.V1108L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1108					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.V1108L(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTAGTTCCACTCCAGTGTTT	0.408000													81	192					5.12525e-22	6.51931e-22	1	1	0
NEK4	6787	broad.mit.edu	37	3	52794870	52794870	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:52794870T>A	ENST00000233027.5	-	6	1106	c.904A>T	c.(904-906)Aat>Tat	p.N302Y	NEK4_ENST00000383721.4_Missense_Mutation_p.N302Y|NEK4_ENST00000535191.1_Missense_Mutation_p.N213Y	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	302					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.N302Y(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		ACTTCATGATTTGATTCTGCC	0.378000													75	76					0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20824527	20824527	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:20824527G>T	ENST00000304031.3	-	5	774	c.749C>A	c.(748-750)cCa>cAa	p.P250Q		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	250					cell communication		phosphatidylinositol binding	p.P250Q(2)		endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGTCCTGTGGAGACAGCTT	0.642000													3	35					8.12818e-05	8.47463e-05	1	1	0
KIF2B	84643	broad.mit.edu	37	17	51900791	51900791	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:51900791G>T	ENST00000268919.4	+	1	553	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	133					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.V133L(2)|p.V133M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGCCTGGATGTGAGGGTCCC	0.582000													57	115					1.64573e-32	2.22699e-32	1	1	0
NBPF14	25832	broad.mit.edu	37	1	148016411	148016411	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:148016411G>A	ENST00000369219.1	-	7	847	c.831C>T	c.(829-831)ccC>ccT	p.P277P				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	277	NBPF 3.					cytoplasm		p.P277P(2)|p.P283L(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGACTCACCTGGGACCTGTTG	0.438000													458	214					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110862504	110862504	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr13:110862504C>G	ENST00000375820.4	-	9	645	c.524G>C	c.(523-525)aGa>aCa	p.R175T	COL4A1_ENST00000543140.1_Missense_Mutation_p.R175T	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	175	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.R175T(2)|p.R166T(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGAAATCCTCTTTCACCTTT	0.453000													52	53					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98146807	98146807	+	Missense_Mutation	SNP	G	G	T	rs144026118		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:98146807G>T	ENST00000357947.3	-	14	1980	c.1755C>A	c.(1753-1755)caC>caA	p.H585Q		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	585	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.H585Q(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CGCACCCGCCGTGATCTGGCC	0.582000													78	86					6.48246e-70	9.91069e-70	1	1	0
MUC16	94025	broad.mit.edu	37	19	9021116	9021116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:9021116C>A	ENST00000397910.4	-	19	37410	c.37207G>T	c.(37207-37209)Gag>Tag	p.E12403*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12405	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E12403*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCATGTCCTCCCCATACTGC	0.552000													475	1211					1.00353e-100	1.58768e-100	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114186033	114186033	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:114186033G>A	ENST00000297405.5	-	4	871	c.627C>T	c.(625-627)atC>atT	p.I209I	CSMD3_ENST00000343508.3_Silent_p.I169I|CSMD3_ENST00000455883.2_Silent_p.I209I|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Silent_p.I209I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	209	Sushi 1.					integral to membrane|plasma membrane		p.I209I(2)|p.I169I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCCATCAAGGATGTATCCAG	0.458000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			81	301					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11047364	11047364	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:11047364A>G	ENST00000379261.4	+	1	106	c.14A>G	c.(13-15)aAa>aGa	p.K5R	CELF2_ENST00000416382.2_Missense_Mutation_p.K5R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	5	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	p.K5R(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CGCTGTCCCAAATCCGCTGTT	0.438000													57	289					0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6704148	6704148	+	Missense_Mutation	SNP	G	G	C	rs150562113		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:6704148G>C	ENST00000338694.2	-	7	1096	c.967C>G	c.(967-969)Cgg>Ggg	p.R323G	TEKT1_ENST00000535086.1_Missense_Mutation_p.R177G	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	323					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.H322_R323>QG(1)|p.R323G(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ACGTTCGGCCGGTGTGTCCTG	0.527000											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	198	229					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10910395	10910395	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr21:10910395A>T	ENST00000298232.7	-	21	1674	c.1307T>A	c.(1306-1308)cTt>cAt	p.L436H	TPTE_ENST00000361285.4_Missense_Mutation_p.L454H|TPTE_ENST00000342420.5_Missense_Mutation_p.L416H|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	454	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L436H(2)|p.L454H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATGTTATCAAGTACCTATGA	0.323000													65	271					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase.		L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537000	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			116	299					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4944698	4944698	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:4944698G>T	ENST00000321961.2	-	1	939	c.872C>A	c.(871-873)cCc>cAc	p.P291H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P291H(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTAGATGATGGGGTTCATAAG	0.438000													77	233					6.47592e-44	9.31829e-44	1	1	0
AHRR	57491	broad.mit.edu	37	5	353963	353963	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:353963C>G	ENST00000316418.5	+	3	237	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	AHRR_ENST00000505113.1_Missense_Mutation_p.L65V|AHRR_ENST00000515206.1_Missense_Mutation_p.L61V|AHRR_ENST00000512529.1_Intron	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	65	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.L61V(2)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CATCTCCAAGCTGGACAAGCT	0.592000													10	39					0	0	1	0	0
ARL5B	221079	broad.mit.edu	37	10	18948604	18948604	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:18948604G>T	ENST00000377275.3	+	1	271	c.38G>T	c.(37-39)tGt>tTt	p.C13F		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	13					small GTPase mediated signal transduction	intracellular	GTP binding	p.C13F(1)		lung(1)|ovary(1)	2						AGCCTCTTCTGTAACCAAGGT	0.692000													8	6					2.74318e-10	3.10438e-10	1	1	0
ZNF479	90827	broad.mit.edu	37	7	57188147	57188147	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:57188147G>C	ENST00000331162.4	-	5	1245	c.975C>G	c.(973-975)tgC>tgG	p.C325W		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C325W(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCTCACACCTGCAGGGTTTCT	0.453000													13	34					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682066	100682066	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:100682066C>A	ENST00000306151.4	+	3	7433	c.7369C>A	c.(7369-7371)Ccg>Acg	p.P2457T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2457	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2457T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAACCACTCCGTTAGCAAG	0.537000													119	493					9.56113e-55	1.40761e-54	1	1	0
COG5	10466	broad.mit.edu	37	7	106898754	106898754	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:106898754C>A	ENST00000393603.2	-	15	2014	c.1743G>T	c.(1741-1743)gtG>gtT	p.V581V	COG5_ENST00000347053.3_Silent_p.V581V|COG5_ENST00000297135.3_Silent_p.V581V	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	581					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.V581V(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ACAATGAATTCACTACTGCCA	0.338000													186	366					3.53177e-68	5.37371e-68	1	1	0
RIOK2	55781	broad.mit.edu	37	5	96506952	96506952	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:96506952T>A	ENST00000283109.3	-	6	805	c.737A>T	c.(736-738)gAt>gTt	p.D246V	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.D246V	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	246							ATP binding|protein serine/threonine kinase activity	p.D246V(4)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CTGTGGAAAATCAATCATGGT	0.318000													67	187					0	0	1	0	0
ALMS1P	200420	broad.mit.edu	37	2	73901983	73901983	+	RNA	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:73901983C>G	ENST00000450720.1	+	0	936					NR_003683.2													p.Q152E(2)									CCTGGCTGTCCAGAAGAACAA	0.478000													57	70					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228492264	228492264	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:228492264A>G	ENST00000570156.2	+	53	14337	c.14263A>G	c.(14263-14265)Agg>Ggg	p.R4755G	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1445G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3798					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R4380G(2)|p.R4510G(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTCACGATCAGGGGTAAAGA	0.557000													55	134					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52584605	52584605	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:52584605C>A	ENST00000356770.4	-	27	4470	c.4468G>T	c.(4468-4470)Ggc>Tgc	p.G1490C	PBRM1_ENST00000409767.1_Missense_Mutation_p.G1485C|PBRM1_ENST00000394830.3_Missense_Mutation_p.G1470C|PBRM1_ENST00000337303.4_Missense_Mutation_p.G1470C|PBRM1_ENST00000409057.1_Missense_Mutation_p.G1522C|PBRM1_ENST00000296302.7_Missense_Mutation_p.G1577C|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409114.3_Missense_Mutation_p.G1540C|PBRM1_ENST00000410007.1_Missense_Mutation_p.G1497C			Q86U86	PB1_HUMAN	polybromo 1	1577	Pro-rich.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.G1577C(1)|p.G1490C(1)|p.G1470C(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGATGTGGGCCGGGATATGGA	0.572000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								7	36					0.000157383	0.000161445	1	1	0
KRT32	3882	broad.mit.edu	37	17	39620561	39620561	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:39620561C>A	ENST00000225899.3	-	4	946	c.843G>T	c.(841-843)agG>agT	p.R281S		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	281	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.R281S(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCTCCACGTCCCTGCGGTTGG	0.617000													23	45					1.12875e-08	1.25067e-08	1	1	0
OR51V1	283111	broad.mit.edu	37	11	5221796	5221796	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:5221796G>T	ENST00000321255.1	-	1	134	c.135C>A	c.(133-135)gcC>gcA	p.A45A		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A45A(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGCACCATGGCATAGATTG	0.512000													133	437					1.69274e-77	2.62581e-77	1	1	0
PDE1C	5137	broad.mit.edu	37	7	31864558	31864558	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:31864558C>A	ENST00000396184.3	-	14	1533	c.1329G>T	c.(1327-1329)acG>acT	p.T443T	PDE1C_ENST00000396182.2_Silent_p.T443T|PDE1C_ENST00000396191.1_Silent_p.T443T|PDE1C_ENST00000321453.7_Silent_p.T443T|PDE1C_ENST00000396193.1_Silent_p.T503T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	443	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.T443T(2)|p.D444Y(2)|p.T503T(1)|p.D504Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CGGTCATGTCCGTAAGCACAG	0.483000													128	313					1.67419e-43	2.38741e-43	1	1	0
CDH10	1008	broad.mit.edu	37	5	24537699	24537699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:24537699C>A	ENST00000264463.4	-	3	823	c.316G>T	c.(316-318)Gaa>Taa	p.E106*		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	106	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E106*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTGTTTTTTCATCAATAATA	0.388000										HNSCC(23;0.051)			8	122					0.000274275	0.000280449	1	1	0
PRPF19	27339	broad.mit.edu	37	11	60666746	60666746	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:60666746T>G	ENST00000227524.4	-	11	1064	c.859A>C	c.(859-861)Act>Cct	p.T287P		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	287					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	p.T287P(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						ATCCTGATAGTGGCATCGGGG	0.488000											OREG0020994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	57					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50946023	50946023	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:50946023G>A	ENST00000374103.4	-	19	2572	c.2487C>T	c.(2485-2487)cgC>cgT	p.R829R	OGDHL_ENST00000432695.1_Silent_p.R620R|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Silent_p.R772R	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	829					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R829R(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGATCTGCCGGCGCAGCACGT	0.652000													58	203					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414872	14414872	+	RNA	SNP	C	C	T	rs11088818	by1000genomes	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr21:14414872C>T	ENST00000507941.1	+	0	95																											AGTAGTAACACTTCTGGTAGA	0.473000													4	104					0	0	1	0	0
CXorf40B	541578	broad.mit.edu	37	X	149101918	149101918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:149101918C>A	ENST00000370406.3	-	4	1003	c.175G>T	c.(175-177)Gag>Tag	p.E59*	CXorf40B_ENST00000462691.1_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000355203.2_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000370404.1_Nonsense_Mutation_p.E59*			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	59								p.E59*(2)		endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCGAGTCTCTCCACCAGCAGC	0.577000													37	132					9.62906e-15	1.15549e-14	1	1	0
OPN5	221391	broad.mit.edu	37	6	47775990	47775990	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:47775990A>T	ENST00000489301.2	+	5	942	c.857A>T	c.(856-858)cAg>cTg	p.Q286L	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Missense_Mutation_p.Q286L|OPN5_ENST00000393699.2_Missense_Mutation_p.Q286L			Q6U736	OPN5_HUMAN	opsin 5	286					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.Q286L(2)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						ATTCCCATACAGCTCTCTGTG	0.458000													117	231					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28424343	28424343	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr15:28424343T>C	ENST00000261609.7	-	58	9072	c.8964A>G	c.(8962-8964)acA>acG	p.T2988T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2988					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T2988T(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCTGACAGTGTCTCAGAGA	0.294000													38	38					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56443508	56443508	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:56443508C>A	ENST00000588751.1	-	1	194	c.170G>T	c.(169-171)tGg>tTg	p.W57L	NLRP13_ENST00000342929.3_Missense_Mutation_p.W57L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	57	DAPIN.						ATP binding	p.W57L(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAGTTTGCCCAGGGGATACG	0.547000													78	66					4.02712e-25	5.22704e-25	1	1	0
STAG3L4	64940	broad.mit.edu	37	7	66774598	66774598	+	RNA	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:66774598C>T	ENST00000416602.2	+	0	615					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CCAACTGAGTCTGCACGAAGA	0.483000													6	182					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202609145	202609145	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:202609145T>C	ENST00000264276.6	-	10	2378	c.2006A>G	c.(2005-2007)tAt>tGt	p.Y669C		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	669					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	p.Y669C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCTGCTTATATATCCAAGCTG	0.353000													81	43					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20177828	20177828	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:20177828G>T	ENST00000524983.2	-	4	1252	c.964C>A	c.(964-966)Cct>Act	p.P322T	DBX1_ENST00000227256.3_Missense_Mutation_p.P361T			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	322					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P361T(2)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						AAGTCCGAAGGTTTCCCGGGA	0.652000													23	46					2.27731e-05	2.40592e-05	1	1	0
GOLIM4	27333	broad.mit.edu	37	3	167728078	167728078	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:167728078T>C	ENST00000470487.1	-	16	2759	c.2070A>G	c.(2068-2070)tcA>tcG	p.S690S	GOLIM4_ENST00000309027.4_Silent_p.S662S	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	690					transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		p.S690S(2)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTCGATGTGATTTCTCAG	0.493000													113	347					0	0	1	0	0
AVPR2	554	broad.mit.edu	37	X	153171455	153171455	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:153171455C>A	ENST00000358927.2	+	3	704	c.495C>A	c.(493-495)gcC>gcA	p.A165A	AVPR2_ENST00000370049.1_Silent_p.A165A|AVPR2_ENST00000337474.5_Silent_p.A165A			P30518	V2R_HUMAN	arginine vasopressin receptor 2	165					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	p.A165A(2)|p.L168fs*41(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGCTTGGGCCTTCTCGCTCC	0.662000													18	23					1.33834e-09	1.50919e-09	1	1	0
GALNTL5	168391	broad.mit.edu	37	7	151664369	151664369	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:151664369C>A	ENST00000392800.2	+	2	292	c.38C>A	c.(37-39)tCc>tAc	p.S13Y	GALNTL5_ENST00000431418.2_Missense_Mutation_p.S13Y	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	13						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.S13Y(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TTCTATGGGTCCTTGACATTT	0.383000													21	79					2.48779e-11	2.85602e-11	1	1	0
ASPM	259266	broad.mit.edu	37	1	197104226	197104226	+	Splice_Site	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:197104226C>A	ENST00000367409.4	-	5	2429	c.2173_splice	c.e5+1	p.V725_splice	ASPM_ENST00000294732.7_Splice_Site_p.V725_splice|ASPM_ENST00000367408.1_5'UTR	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	725					mitosis	cytoplasm|nucleus	calmodulin binding	p.V725L(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAACGTTTACCTTCAGAAATA	0.269000													11	17					3.86212e-05	4.03998e-05	1	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17698743	17698743	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:17698743T>C	ENST00000399080.2	-	1	963	c.940A>G	c.(940-942)Aaa>Gaa	p.K314E		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	314								p.K314E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACAGTTTTTTTATCATTCTGT	0.328000													7	99					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168098448	168098448	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:168098448G>T	ENST00000519560.1	-	34	4301	c.3882C>A	c.(3880-3882)ggC>ggA	p.G1294G	SLIT3_ENST00000404867.3_Silent_p.G1294G|SLIT3_ENST00000332966.8_Silent_p.G1301G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1294	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.G1294G(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCGGTCCGTGCCCTGGCGCA	0.672000													28	13					1.96642e-18	2.43316e-18	1	1	0
ASPA	443	broad.mit.edu	37	17	3385072	3385072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:3385072C>T	ENST00000263080.2	+	2	570	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	ASPA_ENST00000456349.2_Nonsense_Mutation_p.Q138*|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	138					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	p.Q138*(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	CTTTTTAATTCAGATGTTTCA	0.318000													5	19					0	0	1	0	0
QPRT	23475	broad.mit.edu	37	16	29708623	29708623	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:29708623C>A	ENST00000395384.4	+	4	946	c.785C>A	c.(784-786)cCg>cAg	p.P262Q	QPRT_ENST00000219771.7_3'UTR|QPRT_ENST00000562473.1_Missense_Mutation_p.P114Q	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	262					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity	p.P262Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	TTCTGCGGGCCGCACATAGAC	0.632000													23	19					7.87624e-14	9.24224e-14	1	1	0
LAX1	54900	broad.mit.edu	37	1	203743633	203743633	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:203743633G>T	ENST00000442561.2	+	5	1411	c.1021G>T	c.(1021-1023)Gct>Tct	p.A341S	LAX1_ENST00000367217.5_Missense_Mutation_p.A325S|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	341					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.A341S(2)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACATTCCTTGCTTCAGGGGA	0.468000													82	169					1.59803e-59	2.38578e-59	1	1	0
SLC7A11	23657	broad.mit.edu	37	4	139100436	139100436	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:139100436C>A	ENST00000280612.5	-	11	1658	c.1379G>T	c.(1378-1380)gGa>gTa	p.G460V		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	460					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	p.G460V(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CGCAGGGACTCCAGTCAGAGT	0.423000													39	83					4.01765e-15	4.83945e-15	1	1	0
ANKS1B	56899	broad.mit.edu	37	12	99837534	99837534	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:99837534T>G	ENST00000547776.2	-	11	1491	c.1492A>C	c.(1492-1494)Agc>Cgc	p.S498R	ANKS1B_ENST00000547010.1_Missense_Mutation_p.S78R|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S498R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	498						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.S498R(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCTGTTGAGCTGTTTCTATGG	0.438000													107	223					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81187704	81187704	+	RNA	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:81187704G>C	ENST00000525539.1	-	0	4267				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.P1423R(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGGTGGTGGGGCTCTCTCTC	0.602000													6	8					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149131	52149131	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:52149131G>T	ENST00000360844.6	-	3	645	c.604C>A	c.(604-606)Ccc>Acc	p.P202T	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	202	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.P202T(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCGGGCCTGGGGGTGAGGGTG	0.627000													64	40					2.10938e-32	2.8423e-32	1	1	0
RPGR	6103	broad.mit.edu	37	X	38145111	38145111	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:38145111T>C	ENST00000378505.2	-	15	3317	c.3141A>G	c.(3139-3141)gaA>gaG	p.E1047E	RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	836					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.E1047E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ccccctccttttccctttctt	0.537000													5	12					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227218999	227218999	+	Splice_Site	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:227218999C>G	ENST00000366769.3	-	27	4961	c.3670_splice	c.e27+1	p.D1224_splice	CDC42BPA_ENST00000366764.2_Splice_Site_p.D1196_splice|CDC42BPA_ENST00000535525.1_Splice_Site_p.D1204_splice|CDC42BPA_ENST00000366766.2_Splice_Site_p.D1259_splice|CDC42BPA_ENST00000366767.3_Splice_Site_p.D1143_splice|CDC42BPA_ENST00000366765.3_Splice_Site_p.D1237_splice|CDC42BPA_ENST00000334218.5_Splice_Site_p.D1224_splice	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1237					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.D1224H(2)|p.D1143H(2)|p.D1259H(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AAATTCATACCTATGATTGCG	0.388000													46	92					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452538	58452538	+	Silent	SNP	A	A	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:58452538A>T	ENST00000282308.3	-	3	1834	c.1638T>A	c.(1636-1638)ccT>ccA	p.P546P	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	546					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P546P(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TGCACTCATAAGGCCTTTCTC	0.453000													6	110					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63009375	63009375	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:63009375C>G	ENST00000251157.5	-	24	2934	c.2901G>C	c.(2899-2901)gaG>gaC	p.E967D	DOCK7_ENST00000340370.5_Missense_Mutation_p.E936D	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	967					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.E936D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AACTTGACGTCTCTGTGTGCG	0.373000													5	171					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119727780	119727780	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:119727780T>A	ENST00000541757.1	+	4	436	c.56T>A	c.(55-57)cTg>cAg	p.L19Q	MARCO_ENST00000327097.4_Missense_Mutation_p.L97Q			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	97					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.L97Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TTCTCCTTGCTGCAGTCAGCA	0.617000													153	71					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38192396	38192396	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:38192396G>A	ENST00000394126.1	-	3	718	c.300C>T	c.(298-300)taC>taT	p.Y100Y	MED24_ENST00000479829.1_5'UTR|MED24_ENST00000356271.3_Intron|MED24_ENST00000394128.2_Silent_p.Y75Y|MED24_ENST00000501516.3_Silent_p.Y75Y|MED24_ENST00000394127.2_Intron			O75448	MED24_HUMAN	mediator complex subunit 24	75					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.Y75Y(2)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GGACAGAAGAGTAGGACACCA	0.498000													74	185					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12905653	12905653	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:12905653A>T	ENST00000380659.3	+	3	2165	c.2026A>T	c.(2026-2028)Aat>Tat	p.N676Y		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	676					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	p.N676Y(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TATGCCTCCAAATCTAAAGAA	0.373000													10	349					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91667886	91667886	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:91667886A>G	ENST00000359028.2	+	18	4753	c.4528A>G	c.(4528-4530)Att>Gtt	p.I1510V	AKAP9_ENST00000356239.3_Missense_Mutation_p.I1498V|AKAP9_ENST00000358100.2_Missense_Mutation_p.I1510V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1510					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.I1510V(2)|p.I1498V(2)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGGATCAAATTGGTTTTCA	0.323000			T	BRAF	papillary thyroid								35	63					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3684492	3684492	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:3684492G>A	ENST00000344754.4	-	4	952	c.953C>T	c.(952-954)cCc>cTc	p.P318L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P318L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	318	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P318L(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GAGGCTGATGGGGGGTGAGAC	0.612000													24	26					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799160	212799160	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:212799160G>T	ENST00000294829.3	+	1	1372	c.941G>T	c.(940-942)gGg>gTg	p.G314V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	314	Ala-rich.							p.G314V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GCCATAGCTGGGGCGGCCACC	0.642000													16	37					7.87624e-14	9.24224e-14	1	1	0
OR14A16	284532	broad.mit.edu	37	1	247978341	247978341	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:247978341C>T	ENST00000357627.1	-	1	690	c.691G>A	c.(691-693)Ggc>Agc	p.G231S		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G231S(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTTGACTGGCCTTCTGTGGAA	0.413000													105	211					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133256576	133256576	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:133256576T>C	ENST00000320574.5	-	5	430	c.387A>G	c.(385-387)gcA>gcG	p.A129A	POLE_ENST00000535270.1_Silent_p.A102A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	129					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.A129A(4)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTCCACTTTTGCAATTTTGC	0.448000								DNA polymerases (catalytic subunits)					31	50					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962197	151962197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:151962197G>T	ENST00000355193.2	-	8	1328	c.1110C>A	c.(1108-1110)tgC>tgA	p.C370*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.C370*					lysine (K)-specific methyltransferase 2C									p.C370*(2)									CTATATCCAGGCACATTCCAT	0.453000													894	2710					4.38702e-148	7.11772e-148	1	1	0
OR2T2	401992	broad.mit.edu	37	1	248616138	248616138	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:248616138G>A	ENST00000342927.3	+	1	62	c.40G>A	c.(40-42)Gtc>Atc	p.V14I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V14S(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACTAACTTCGTCCTCACAGG	0.507000													30	244					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239890	135239890	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:135239890G>A	ENST00000265605.2	-	7	1195	c.1127C>T	c.(1126-1128)aCg>aTg	p.T376M	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T322M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T326M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	376					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.T376M(4)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TGTTATCACCGTGGGAAGCAT	0.502000													27	110					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433035	55433035	+	Silent	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:55433035G>C	ENST00000314259.3	+	1	422	c.393G>C	c.(391-393)acG>acC	p.T131T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T131T(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGCACTACACGATCATCATGA	0.512000													74	184					0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279140	51279140	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:51279140G>A	ENST00000551456.1	+	4	809	c.764G>A	c.(763-765)gGt>gAt	p.G255D	TMPRSS12_ENST00000398458.3_Missense_Mutation_p.G255D			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	255	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.G255D(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TTTTGTGCAGGTGATGAAGAT	0.363000													269	480					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048560	6048560	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:6048560C>A	ENST00000316650.5	-	1	411	c.375G>T	c.(373-375)atG>atT	p.M125I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M125I(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTCATAGGCCATGACCATAA	0.502000													175	328					7.30274e-78	1.13837e-77	1	1	0
GHRHR	2692	broad.mit.edu	37	7	31013682	31013682	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:31013682T>A	ENST00000409904.3	+	4	746	c.488T>A	c.(487-489)cTg>cAg	p.L163Q	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Missense_Mutation_p.L227Q			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	227					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.L227Q(2)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GCCGTCTACCTGAACTGCCTC	0.632000													19	47					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19028759	19028759	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:19028759G>T	ENST00000354791.3	-	16	1430	c.1189C>A	c.(1189-1191)Cct>Act	p.P397T	GPR64_ENST00000360279.4_Missense_Mutation_p.P391T|GPR64_ENST00000379873.2_Missense_Mutation_p.P413T|GPR64_ENST00000357544.3_Missense_Mutation_p.P383T|GPR64_ENST00000379878.3_Missense_Mutation_p.P397T|GPR64_ENST00000357991.3_Missense_Mutation_p.P410T|GPR64_ENST00000379869.3_Missense_Mutation_p.P413T|GPR64_ENST00000379876.1_Missense_Mutation_p.P389T|GPR64_ENST00000356606.4_Missense_Mutation_p.P399T|GPR64_ENST00000340581.3_Missense_Mutation_p.P383T			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	413					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	p.P410T(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGCATGTCAGGCGGGGAATGA	0.527000													150	184					1.34617e-89	2.10878e-89	1	1	0
FIZ1	84922	broad.mit.edu	37	19	56109048	56109048	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:56109048G>A	ENST00000221665.3	-	2	273	c.184C>T	c.(184-186)Cac>Tac	p.H62Y	FIZ1_ENST00000592585.1_Intron	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	p.H62Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TTGAAGCTGTGCTTGAAACCC	0.677000													5	58					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161976113	161976113	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:161976113C>A	ENST00000294794.3	-	4	1120	c.697G>T	c.(697-699)Gca>Tca	p.A233S	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A233S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	233	Poly-Ala.							p.A233S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTGCTGCTGCATCCCTCTGC	0.527000													51	130					1.80625e-27	2.36374e-27	1	1	0
LINC00842	643650	broad.mit.edu	37	10	47133423	47133423	+	RNA	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:47133423T>A	ENST00000422732.2	-	0	435					NR_033957.1																						TAGGCCTCCATTGCCACAGGG	0.453000													32	188					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144805	25144805	+	RNA	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr13:25144805C>A	ENST00000453498.1	+	0	346																											GGGTCCTGGTCCTGCCATGGG	0.463000													20	101					1.22384e-17	1.50262e-17	1	1	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													3	41					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20167606	20167606	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:20167606G>T	ENST00000263754.4	+	10	2077		c.e10+1			NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B						cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TCTTTGACCCGTAAGTGGTAC	0.448000													3	8					0.004672	0.00474663	1	1	0
GPR142	350383	broad.mit.edu	37	17	72368476	72368476	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:72368476G>C	ENST00000335666.4	+	4	1174	c.1126G>C	c.(1126-1128)Gtc>Ctc	p.V376L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	376						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.V376L(2)|p.V376I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCGGGTCTTCGTCATGCTCTA	0.662000													26	59					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43516038	43516038	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:43516038C>A	ENST00000265351.7	-	18	2230	c.2020G>T	c.(2020-2022)Gca>Tca	p.A674S		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	674					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GCCACTGGTGCCATCAGCTCC	0.483000													24	335					5.60225e-13	6.50188e-13	1	1	0
PMPCB	9512	broad.mit.edu	37	7	102937953	102937953	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:102937953G>T	ENST00000249269.4	+	1	85	c.47G>T	c.(46-48)cGg>cTg	p.R16L	PMPCB_ENST00000420236.2_5'UTR|PMPCB_ENST00000428154.1_Missense_Mutation_p.R16L	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	16				RR -> GG (in Ref. 1; AAC39915).	proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	p.R16L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCGGCGCGGCGGCGGCTCTGG	0.652000											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	18					5.3912e-06	5.7919e-06	1	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102508881	102508881	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:102508881A>G	ENST00000321521.9	+	20	2882	c.2309A>G	c.(2308-2310)gAa>gGa	p.E770G	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.E770G|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.E770G			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	770					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.E770G(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTAAAGCTGAAAAACTGGAG	0.338000													62	29					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													5	44					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56099110	56099110	+	Missense_Mutation	SNP	C	C	T	rs147244405	byFrequency	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:56099110C>T	ENST00000426658.2	-	1	813	c.152G>A	c.(151-153)cGt>cAt	p.R51H	CTCFL_ENST00000422869.2_Missense_Mutation_p.R51H|CTCFL_ENST00000429804.2_Missense_Mutation_p.R51H|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000433949.2_Missense_Mutation_p.R51H|CTCFL_ENST00000371196.2_Missense_Mutation_p.R51H|CTCFL_ENST00000422109.2_Missense_Mutation_p.R51H|CTCFL_ENST00000423479.2_Missense_Mutation_p.R51H|CTCFL_ENST00000432255.2_Missense_Mutation_p.R51H|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.R51H			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	51					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.R51H(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCCAGAGGTACGCTCGGCCTC	0.592000													3	17					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686420	108686420	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:108686420A>G	ENST00000397688.2	-	3	683	c.314T>C	c.(313-315)tTc>tCc	p.F105S	CMKLR1_ENST00000550402.1_Missense_Mutation_p.F107S|CMKLR1_ENST00000312143.7_Missense_Mutation_p.F107S|CMKLR1_ENST00000552995.1_Missense_Mutation_p.F105S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.F107S	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	107					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.F105S(2)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGCTGTCCCGAAAACCCAGTG	0.517000													117	285					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21842294	21842294	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:21842294C>A	ENST00000382254.1	-	8	1876	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.D264Y|CDH12_ENST00000522262.1_Missense_Mutation_p.D224Y	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	264	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D264Y(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGTGGATTGTCATTGACATCG	0.403000										HNSCC(59;0.17)			158	518					5.99782e-64	8.99673e-64	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55129867	55129867	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:55129867C>T	ENST00000257290.5	+	4	732	c.401C>T	c.(400-402)aCg>aTg	p.T134M	PDGFRA_ENST00000508170.1_Missense_Mutation_p.T134M|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	134	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.T134M(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTAGGAATGACGGATTATTTA	0.408000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			94	231					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868644	97868644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:97868644G>T	ENST00000437310.1	+	1	475	c.415G>T	c.(415-417)Gga>Tga	p.G139*		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G139*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATGACCAATGGACTGTGCAT	0.393000													225	287					1.22897e-146	1.98381e-146	1	1	0
RYR2	6262	broad.mit.edu	37	1	237947310	237947310	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:237947310G>A	ENST00000366574.2	+	90	12615	c.12298G>A	c.(12298-12300)Gtc>Atc	p.V4100I	RYR2_ENST00000360064.6_Missense_Mutation_p.V4106I|RYR2_ENST00000542537.1_Missense_Mutation_p.V4084I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4100					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V4098I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACGTCGCCGTCCTTCTGAC	0.502000													11	55					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719811	140719811	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:140719811A>G	ENST00000394576.2	+	1	1273	c.1273A>G	c.(1273-1275)Aaa>Gaa	p.K425E	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.K425E(4)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAACCGCTAAAGATGGAGG	0.488000													46	83					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34648810	34648810	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr15:34648810T>C	ENST00000537011.1	+	8	2983	c.2601T>C	c.(2599-2601)ggT>ggC	p.G867G	NUTM1_ENST00000438749.3_Silent_p.G857G|NUTM1_ENST00000333756.4_Silent_p.G839G					NUT midline carcinoma, family member 1									p.G839G(2)									GGGCAGAAGGTTGCTTCCCAT	0.522000													22	150					0	0	1	0	0
NEU3	10825	broad.mit.edu	37	11	74716538	74716538	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:74716538G>A	ENST00000532963.1	+	2	302	c.175G>A	c.(175-177)Gag>Aag	p.E59K	NEU3_ENST00000529024.1_Missense_Mutation_p.E59K|NEU3_ENST00000544263.1_Silent_p.K96K|NEU3_ENST00000545272.1_Silent_p.K20K|NEU3_ENST00000531509.1_Silent_p.K129K|NEU3_ENST00000294064.4_Silent_p.K129K			A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	0								p.K129K(4)		kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GGGAGCAGAAGAGTGGTTGTG	0.562000													28	68					0	0	1	0	0
C7orf25	79020	broad.mit.edu	37	7	42950014	42950014	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:42950014G>A	ENST00000350427.4	-	2	761	c.486C>T	c.(484-486)aaC>aaT	p.N162N	C7orf25_ENST00000431882.2_Silent_p.N220N|C7orf25_ENST00000447342.1_Silent_p.N162N|C7orf25_ENST00000438029.1_Silent_p.N162N|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	162								p.N162N(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TGATGTGAGGGTTGCTATACT	0.502000													5	94					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531939	92531939	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:92531939C>G	ENST00000298047.6	+	9	5777	c.5760C>G	c.(5758-5760)taC>taG	p.Y1920*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y1770*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y1920*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1920	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.Y1920*(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACTGACATACAGCCTAATGG	0.418000										TCGA Ovarian(4;0.039)			38	63					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67300882	67300882	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:67300882T>C	ENST00000392676.3	-	7	922	c.858A>G	c.(856-858)acA>acG	p.T286T	ABCA5_ENST00000588877.1_Silent_p.T286T|ABCA5_ENST00000392677.2_Silent_p.T286T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	286					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.T286T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ACAAAGAAGCTGTCGCAATGA	0.323000													34	81					0	0	1	0	0
RHEBL1	121268	broad.mit.edu	37	12	49463563	49463563	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:49463563C>A	ENST00000301068.6	-	1	245	c.6G>T	c.(4-6)ccG>ccT	p.P2P		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	2					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding	p.P2P(2)		breast(2)|large_intestine(2)|lung(5)	9						AGCGGACTAGCGGCATGGCAG	0.647000													10	16					7.03913e-09	7.85418e-09	1	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254445	30254445	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:30254445C>A	ENST00000361644.2	+	5	1141	c.404C>A	c.(403-405)gCa>gAa	p.A135E	MAGEB3_ENST00000378986.1_Missense_Mutation_p.A135E	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	135	MAGE.							p.A135E(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						ATTATGAAAGCAGATATGCTA	0.383000													67	119					5.02462e-34	6.8872e-34	1	1	0
EMR1	2015	broad.mit.edu	37	19	6935052	6935052	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:6935052A>T	ENST00000312053.4	+	18	2381	c.2344A>T	c.(2344-2346)Agt>Tgt	p.S782C	EMR1_ENST00000381407.5_Missense_Mutation_p.S641C|EMR1_ENST00000250572.8_Missense_Mutation_p.S717C|EMR1_ENST00000381404.4_Missense_Mutation_p.S763C|EMR1_ENST00000450315.3_Missense_Mutation_p.S605C	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	782					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S782C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAGGCTTTCCAGTGTTAATGC	0.468000													70	235					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44781901	44781901	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:44781901G>C	ENST00000266534.3	+	8	1118	c.991G>C	c.(991-993)Ggg>Cgg	p.G331R	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.G227R|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	331						endoplasmic reticulum|integral to membrane		p.G331R(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TCATGAATATGGGCAATATAT	0.368000													21	48					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69034512	69034512	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:69034512G>T	ENST00000295381.3	+	5	990	c.571G>T	c.(571-573)Ggc>Tgc	p.G191C	ARHGAP25_ENST00000467265.1_Missense_Mutation_p.G152C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.G184C|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.G166C|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.G192C	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	191	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.G185C(2)|p.G192C(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCTGGAGCACGGCCGGAATGA	0.582000													236	314					1.27626e-126	2.04975e-126	1	1	0
RMND5A	64795	broad.mit.edu	37	2	86997154	86997154	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:86997154C>G	ENST00000283632.4	+	7	1358	c.863C>G	c.(862-864)gCa>gGa	p.A288G	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	288								p.A288G(2)		kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						AGTTTCTCAGCAGGTTGTGTG	0.502000													127	234					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262398	158262398	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:158262398C>A	ENST00000368170.3	+	4	902	c.623C>A	c.(622-624)gCc>gAc	p.A208D		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	208	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.A208D(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGGCCAGAAGCCTGGCTGTCC	0.512000													92	237					1.81242e-41	2.56155e-41	1	1	0
ALS2	57679	broad.mit.edu	37	2	202593271	202593271	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:202593271C>A	ENST00000264276.6	-	15	3177	c.2805G>T	c.(2803-2805)tgG>tgT	p.W935C	ALS2_ENST00000457679.2_Missense_Mutation_p.W247C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	935	PH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	p.W935C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGAGAATGAACCAATTCACGG	0.483000													100	54					3.01496e-42	4.28016e-42	1	1	0
NR0B1	190	broad.mit.edu	37	X	30327006	30327006	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:30327006C>A	ENST00000378970.4	-	1	709	c.475G>T	c.(475-477)Gct>Tct	p.A159S	NR0B1_ENST00000453287.1_Missense_Mutation_p.A159S	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	159	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	p.A159S(2)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCTGCCGGAGCCACGTGCGTT	0.677000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	28					0.0477658	0.0480681	1	1	0
CPS1	1373	broad.mit.edu	37	2	211473091	211473091	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:211473091A>G	ENST00000233072.5	+	19	2395	c.2199A>G	c.(2197-2199)ccA>ccG	p.P733P	CPS1_ENST00000430249.2_Silent_p.P739P|CPS1_ENST00000451903.2_Silent_p.P282P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	733	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.P739P(2)|p.P733P(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATAGCTACCCATTGGCATTCA	0.363000													201	89					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													7	176					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411400	5411400	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:5411400T>A	ENST00000328611.3	+	1	794	c.772T>A	c.(772-774)Tgt>Agt	p.C258S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	258						integral to membrane	olfactory receptor activity	p.C258S(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGCTCCTCTCTGTGCTGTGCT	0.562000													29	465					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701585	23701585	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr9:23701585C>A	ENST00000397312.2	-	5	779	c.505G>T	c.(505-507)Ggg>Tgg	p.G169W	ELAVL2_ENST00000544538.1_Missense_Mutation_p.G169W|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G198W|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G169W|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G169W	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	169	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.G169W(2)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CGAATAAACCCTACACCCCTT	0.433000													106	121					1.14276e-43	1.63693e-43	1	1	0
MUC17	140453	broad.mit.edu	37	7	100681561	100681561	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:100681561C>G	ENST00000306151.4	+	3	6928	c.6864C>G	c.(6862-6864)caC>caG	p.H2288Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2288	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.H2288Q(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTCAGCCACACGCTGGTGG	0.478000													140	243					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52761049	52761049	+	Silent	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:52761049C>T	ENST00000257901.3	-	1	216	c.141G>A	c.(139-141)ggG>ggA	p.G47G		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	47	Head.				epidermis development	keratin filament	protein binding|structural molecule activity	p.G47G(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCGTCAGCCCTCGGTAGC	0.682000													6	18					0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6704149	6704149	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:6704149G>T	ENST00000338694.2	-	7	1095	c.966C>A	c.(964-966)caC>caA	p.H322Q	TEKT1_ENST00000535086.1_Missense_Mutation_p.H176Q	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	322					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.H322_R323>QG(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CGTTCGGCCGGTGTGTCCTGG	0.522000											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	201	228					6.65626e-123	1.06366e-122	1	1	0
GPR50	9248	broad.mit.edu	37	X	150349744	150349744	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:150349744G>A	ENST00000218316.3	+	2	1758	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	563	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.S563S(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTGAGTCGGCCTCTAGCC	0.622000													6	243					0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219920175	219920175	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:219920175G>A	ENST00000295731.5	-	3	989	c.990C>T	c.(988-990)gcC>gcT	p.A330A		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	330					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	p.A330A(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGAGCGGGGCGTAGGCCC	0.682000													12	3					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65077169	65077169	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:65077169A>G	ENST00000380985.5	+	6	921	c.743A>G	c.(742-744)tAt>tGt	p.Y248C	NLN_ENST00000502464.1_Missense_Mutation_p.Y144C	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	248					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	p.Y248C(2)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TATCCACACTATTTCCCTGTC	0.328000													58	60					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17643134	17643134	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:17643134G>T	ENST00000335393.4	+	4	480	c.342G>T	c.(340-342)cgG>cgT	p.R114R	FAM129C_ENST00000600871.1_Silent_p.R60R|FAM129C_ENST00000599164.1_Silent_p.R83R|FAM129C_ENST00000595684.1_Silent_p.R114R|FAM129C_ENST00000300971.2_Silent_p.R114R|FAM129C_ENST00000352727.3_Silent_p.R114R|FAM129C_ENST00000599124.1_Silent_p.R83R|FAM129C_ENST00000332386.5_Silent_p.R114R|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000601861.1_Silent_p.R83R|FAM129C_ENST00000449408.2_5'UTR	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	114								p.R114R(4)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						ACCCACCCCGGTGGCAGCCGA	0.647000													10	16					5.50884e-06	5.87856e-06	1	1	0
GRAMD1A	57655	broad.mit.edu	37	19	35500129	35500129	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:35500129A>G	ENST00000599564.1	+	3	447	c.376A>G	c.(376-378)Acc>Gcc	p.T126A	GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.T39A|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.T39A|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.T39A|GRAMD1A_ENST00000598073.1_3'UTR			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	39	GRAM.					integral to membrane		p.T39A(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAACCAGGCACCATGGTGGA	0.662000													17	16					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173255	5173255	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:5173255G>A	ENST00000380367.1	-	2	762	c.345C>T	c.(343-345)ggC>ggT	p.G115G	OR52A1_ENST00000328942.1_Silent_p.G115G			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	115					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.G115G(2)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAAGGATGCCTGACTCTA	0.448000													30	48					0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48726111	48726111	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:48726111G>A	ENST00000328631.5	-	6	1099	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	292					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.F292F(4)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CATTGTGGAAGAACTGGAAAA	0.562000													12	72					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43907004	43907004	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:43907004T>C	ENST00000562955.1	+	52	7293	c.7293T>C	c.(7291-7293)ggT>ggC	p.G2431G	SZT2_ENST00000372442.1_Silent_p.G1589G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2488						peroxisome		p.G1589G(4)|p.G2431G(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGACTCCTGGTGGAGCTGAGC	0.572000													56	22					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060929	76060929	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:76060929G>A	ENST00000335749.4	+	4	3082	c.2513G>A	c.(2512-2514)gGc>gAc	p.G838D	TNRC6C_ENST00000301624.4_Missense_Mutation_p.G841D|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G841D|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G841D	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	841	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.G841D(2)|p.G838D(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCCAGCAGTGGCAGCGGGTGG	0.587000													15	140					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154060	22154060	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:22154060C>A	ENST00000397126.4	-	4	3924	c.3776G>T	c.(3775-3777)gGc>gTc	p.G1259V	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.G1131V(4)|p.G1259V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAGGCTTTGCCACATTCTTC	0.378000													20	71					1.15919e-05	1.23285e-05	1	1	0
CXorf61	203413	broad.mit.edu	37	X	115593061	115593061	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:115593061A>G	ENST00000371894.4	-	2	335	c.189T>C	c.(187-189)tcT>tcC	p.S63S		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	63						integral to membrane|plasma membrane		p.S63S(3)		breast(1)|large_intestine(3)|lung(8)	12						AAATATCCCGAGAGAGGTCGT	0.403000													171	483					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54742922	54742922	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:54742922C>A	ENST00000396365.2	-	8	1392	c.1353G>T	c.(1351-1353)atG>atT	p.M451I	LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.M434I|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron	NM_024318.2	NP_077294.2			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.M451I(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGCCATGCCCATGCGGATGA	0.577000													31	22					6.21074e-16	7.53823e-16	1	1	0
WRAP53	55135	broad.mit.edu	37	17	7592605	7592605	+	Silent	SNP	C	C	T	rs147817526		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:7592605C>T	ENST00000316024.5	+	2	2843	c.495C>T	c.(493-495)agC>agT	p.S165S	WRAP53_ENST00000457584.2_Silent_p.S165S|WRAP53_ENST00000431639.2_Silent_p.S165S|WRAP53_ENST00000534050.1_Intron|WRAP53_ENST00000396463.2_Silent_p.S165S			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	165					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	p.S165S(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CAGAGTTCAGCACCCAACCTG	0.517000													14	28					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98449098	98449098	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:98449098C>T	ENST00000450876.1	-	6	2015	c.700G>A	c.(700-702)Gag>Aag	p.E234K	TMEM130_ENST00000546258.1_Missense_Mutation_p.E299K|TMEM130_ENST00000339375.4_Missense_Mutation_p.E318K|TMEM130_ENST00000345589.4_Missense_Mutation_p.E216K|TMEM130_ENST00000416379.2_Missense_Mutation_p.E318K			Q8N3G9	TM130_HUMAN	transmembrane protein 130	318						Golgi membrane|integral to membrane		p.E318K(2)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGATATTCTCGGCCCGGATG	0.592000													109	165					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181480554	181480554	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:181480554G>A	ENST00000526775.1	+	3	585	c.420G>A	c.(418-420)ggG>ggA	p.G140G	CACNA1E_ENST00000357570.5_Silent_p.G91G|CACNA1E_ENST00000358338.5_Silent_p.G91G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Silent_p.G140G|CACNA1E_ENST00000367573.2_Silent_p.G140G|CACNA1E_ENST00000367570.1_Silent_p.G140G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	140					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G140G(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGAAGCTGGGATCAAAATTG	0.493000													140	346					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59469394	59469394	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:59469394G>A	ENST00000588462.1	+	25	2761	c.2761G>A	c.(2761-2763)Ggc>Agc	p.G921S	BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000588874.1_Missense_Mutation_p.G655S|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000589222.1_3'UTR|BCAS3_ENST00000407086.3_Missense_Mutation_p.G884S|BCAS3_ENST00000408905.3_Missense_Mutation_p.G906S|BCAS3_ENST00000390652.5_Missense_Mutation_p.G899S|BCAS3_ENST00000585744.1_Missense_Mutation_p.G670S			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	899						nucleus		p.G899S(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTCCACCAGCGGCAGCATACC	0.582000													5	15					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171257993	171257993	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:171257993G>T	ENST00000334231.6	+	18	1948	c.1948G>T	c.(1948-1950)Gcc>Tcc	p.A650S	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.A641S|MYO3B_ENST00000409044.3_Missense_Mutation_p.A641S			Q8WXR4	MYO3B_HUMAN	myosin IIIB	641	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.A641S(4)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGTTTCAGCTGCCTCTGTTCT	0.502000													120	71					7.68471e-68	1.16368e-67	1	1	0
TNR	7143	broad.mit.edu	37	1	175331945	175331945	+	Splice_Site	SNP	A	A	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:175331945A>C	ENST00000367674.1	-	14	3416	c.2707_splice	c.e14-1	p.V903_splice	TNR_ENST00000263525.2_Splice_Site_p.V903_splice	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	903	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.V903G(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TAGTCGTCCCACTGGAGAAGA	0.488000													112	251					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578469	7578469	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:7578469C>A	ENST00000420246.2	-	5	593	c.461G>T	c.(460-462)gGc>gTc	p.G154V	TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000269305.4_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000359597.4_Missense_Mutation_p.G154V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	154	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACGCGGGTGCCGGGCGGGGG	0.607000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			65	44					4.38691e-48	6.42874e-48	1	1	0
NRK	203447	broad.mit.edu	37	X	105189911	105189911	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:105189911T>C	ENST00000428173.2	+	25	4413	c.4110T>C	c.(4108-4110)taT>taC	p.Y1370Y	NRK_ENST00000243300.9_Silent_p.Y1369Y			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1369	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Y1369Y(2)|p.Y1370Y(2)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACATGTCCTATCAAGCCTATA	0.438000										HNSCC(51;0.14)			31	164					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925554	54925554	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:54925554C>A	ENST00000293373.6	+	25	2805	c.2726C>A	c.(2725-2727)aCc>aAc	p.T909N	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.T859N	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	909					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.T909N(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AAGCGCATGACCATCATTGGG	0.493000													37	102					2.46787e-29	3.28361e-29	1	1	0
ZNF611	81856	broad.mit.edu	37	19	53208559	53208559	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:53208559G>C	ENST00000543227.1	-	6	2023	c.1749C>G	c.(1747-1749)tgC>tgG	p.C583W	ZNF611_ENST00000453741.2_Missense_Mutation_p.C514W|ZNF611_ENST00000319783.1_Missense_Mutation_p.C583W|ZNF611_ENST00000540744.1_Missense_Mutation_p.C583W|ZNF611_ENST00000602162.1_Missense_Mutation_p.C514W|ZNF611_ENST00000595798.1_Missense_Mutation_p.C514W	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C583W(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CTCTATGATGGCATACAAGGT	0.423000													471	427					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11701094	11701094	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:11701094G>T	ENST00000262442.3	+	43	8472	c.8404G>T	c.(8404-8406)Gat>Tat	p.D2802Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2802Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2802	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCTTTGAGGATGCCATGCG	0.493000													13	323					1.37285e-15	1.65995e-15	1	1	0
TENM2	57451	broad.mit.edu	37	5	167489067	167489067	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:167489067C>A	ENST00000519204.1	+	6	1067	c.949C>A	c.(949-951)Ccc>Acc	p.P317T	TENM2_ENST00000403607.2_Missense_Mutation_p.P271T|TENM2_ENST00000520394.1_Missense_Mutation_p.P206T|TENM2_ENST00000518659.1_Missense_Mutation_p.P438T|TENM2_ENST00000545108.1_Missense_Mutation_p.P438T					teneurin transmembrane protein 2									p.P271T(1)|p.P317T(1)|p.P438T(1)									TTTTTCAGTGCCCTGGTCGTT	0.408000													9	35					1.08611e-07	1.18557e-07	0.387290	1	0
ITGAM	3684	broad.mit.edu	37	16	31273080	31273080	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:31273080G>T	ENST00000544665.3	+	2	167	c.96G>T	c.(94-96)agG>agT	p.R32S	ITGAM_ENST00000287497.8_Missense_Mutation_p.R32S	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	32					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.R32S(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGAACGCAAGGGGCTTCGGGC	0.517000													16	39					2.94398e-08	3.24928e-08	0.557998	1	0
KIAA1109	84162	broad.mit.edu	37	4	123229169	123229169	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:123229169C>A	ENST00000264501.4	+	58	10280	c.9907C>A	c.(9907-9909)Cat>Aat	p.H3303N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.H3303N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.H3303N			Q2LD37	K1109_HUMAN	KIAA1109	3303					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.H3303N(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATGGCTTTACATAAGGATAT	0.413000													56	129					2.19297e-23	3.01154e-23	0.870114	1	0
NFATC2	4773	broad.mit.edu	37	20	50092041	50092041	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:50092041T>C	ENST00000371564.3	-	4	1708	c.1489A>G	c.(1489-1491)Aaa>Gaa	p.K497E	NFATC2_ENST00000396009.3_Missense_Mutation_p.K497E|NFATC2_ENST00000414705.1_Missense_Mutation_p.K477E	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	497	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.K497E(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCCAGGACTTTGGTGTTGCCC	0.572000													118	125					0	0	0.870114	0	0
ADCK2	90956	broad.mit.edu	37	7	140380905	140380905	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:140380905G>C	ENST00000072869.4	+	4	1451	c.1273G>C	c.(1273-1275)Gca>Cca	p.A425P	ADCK2_ENST00000476491.1_Missense_Mutation_p.A425P	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	425	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity	p.A425P(2)		cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AAGGAAGATTGCACGGCTGGG	0.567000													25	63					0	0	0.717897	0	0
F8	2157	broad.mit.edu	37	X	154158393	154158393	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:154158393G>T	ENST00000360256.4	-	14	3872	c.3672C>A	c.(3670-3672)atC>atA	p.I1224I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1224	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.I1224I(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATTCTCTTGGATTAATGTTT	0.313000													13	38					2.27111e-07	2.47004e-07	0.411799	1	0
MAP7D3	79649	broad.mit.edu	37	X	135318499	135318499	+	Splice_Site	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:135318499C>A	ENST00000316077.9	-	7	861		c.e7-1		MAP7D3_ENST00000370663.5_Splice_Site|MAP7D3_ENST00000370661.1_Splice_Site	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3							cytoplasm|spindle		p.?(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCTGTTTTCCCTAGAGAGCAA	0.353000													56	124					1.0442e-30	1.54811e-30	0.870114	1	0
NTRK1	4914	broad.mit.edu	37	1	156845459	156845459	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:156845459G>T	ENST00000368196.3	+	11	1603		c.e11+1		NTRK1_ENST00000358660.3_Splice_Site|NTRK1_ENST00000392302.2_Splice_Site|NTRK1_ENST00000524377.1_Splice_Site	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1						activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.?(4)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	AGTGATGCCTGTGAGGGGCTA	0.577000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			43	93					2.68985e-26	3.87235e-26	0.870114	1	0
MAP10	54627	broad.mit.edu	37	1	232941151	232941151	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:232941151T>G	ENST00000418460.1	+	1	509	c.382T>G	c.(382-384)Ttc>Gtc	p.F128V		NM_019090.2	NP_061963.2			microtubule-associated protein 10									p.F128V(2)									GGGCTTCAGCTTCTCGTTTGC	0.657000													20	46					0	0	0.608945	0	0
AKR1B15	441282	broad.mit.edu	37	7	134261164	134261164	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:134261164C>A	ENST00000457545.2	+	9	1067	c.807C>A	c.(805-807)caC>caA	p.H269Q	AKR1B15_ENST00000423958.1_Missense_Mutation_p.H241Q	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	269							oxidoreductase activity	p.H269Q(2)|p.H241Q(2)|p.H287Q(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTGCAAAGCACAAAAAAACCA	0.443000													15	76					0.00244969	0.00251727	0.457914	1	0
C3orf27	23434	broad.mit.edu	37	3	128292256	128292256	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:128292256T>C	ENST00000356020.2	-	3	1283	c.317A>G	c.(316-318)cAc>cGc	p.H106R		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	106								p.H106R(2)		large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		AGGCCCACAGTGGCACAGCAG	0.577000													73	144					0	0	0.870114	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64695897	64695897	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:64695897G>T	ENST00000164133.2	+	6	1344	c.722_splice	c.e6+1	p.R241_splice		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	241					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R241L(2)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						ATCTTCCTCCGGTGAGTGGCT	0.607000													61	124					1.53276e-45	2.55174e-45	0.870114	1	0
FAT3	120114	broad.mit.edu	37	11	92623916	92623916	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:92623916C>A	ENST00000298047.6	+	27	13424	c.13407C>A	c.(13405-13407)tcC>tcA	p.S4469S	FAT3_ENST00000525166.1_Silent_p.S4319S|FAT3_ENST00000533797.1_Silent_p.S772S|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Silent_p.S4437S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4469	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S1044S(2)|p.S4437S(2)|p.S4469S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCCACCCTCCCAGCCTGTCT	0.592000										TCGA Ovarian(4;0.039)			18	32					2.35188e-11	2.71651e-11	0.539581	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361828	105361828	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:105361828C>G	ENST00000369774.4	-	15	3423	c.3147G>C	c.(3145-3147)caG>caC	p.Q1049H	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.Q1021H|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.Q916H|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.Q884H			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1049					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	p.Q1021H(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TGCTGTTGCGCTGGGCGGGCA	0.622000													128	160					0	0	0.870114	0	0
CAPN6	827	broad.mit.edu	37	X	110496262	110496262	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:110496262A>G	ENST00000324068.1	-	4	647	c.480T>C	c.(478-480)aaT>aaC	p.N160N	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	160	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.N160N(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCAGCAGAGCATTCCAAAACT	0.428000													47	115					0	0	0.870114	0	0
ATP2B2	491	broad.mit.edu	37	3	10382279	10382279	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:10382279G>A	ENST00000397077.1	-	19	3467	c.2892C>T	c.(2890-2892)aaC>aaT	p.N964N	ATP2B2_ENST00000383800.4_Silent_p.N964N|ATP2B2_ENST00000352432.4_Silent_p.N1009N|ATP2B2_ENST00000343816.4_Silent_p.N995N|ATP2B2_ENST00000360273.2_Silent_p.N1009N			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1009					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.N1009N(2)|p.N964N(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTTGATCTCGTTGAAGAGCT	0.562000													44	175					0	0	0.847076	0	0
NUP43	348995	broad.mit.edu	37	6	150057694	150057694	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:150057694T>C	ENST00000340413.2	-	6	779	c.703A>G	c.(703-705)Act>Gct	p.T235A	NUP43_ENST00000460354.2_Missense_Mutation_p.T235A|NUP43_ENST00000367404.4_Intron|NUP43_ENST00000367403.3_3'UTR	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	235					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	p.T235A(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)		TGGCCACCAGTAGCTACAACA	0.438000													27	101					0	0	0.693898	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060929	76060929	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:76060929G>A	ENST00000335749.4	+	4	3082	c.2513G>A	c.(2512-2514)gGc>gAc	p.G838D	TNRC6C_ENST00000301624.4_Missense_Mutation_p.G841D|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G841D|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G841D	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	841	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.G841D(2)|p.G838D(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCCAGCAGTGGCAGCGGGTGG	0.587000													30	209					0	0	0.740014	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													7	21					8.12818e-05	8.46923e-05	0.248553	1	0
OTUD6A	139562	broad.mit.edu	37	X	69282756	69282756	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:69282756G>C	ENST00000338352.2	+	1	416	c.382G>C	c.(382-384)Gag>Cag	p.E128Q		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	128								p.E128Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CAAGCGCGAGGAGGAGGAGAA	0.627000													6	18					0	0	0.278610	0	0
PDE1C	5137	broad.mit.edu	37	7	31864557	31864557	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:31864557C>A	ENST00000396184.3	-	14	1534	c.1330G>T	c.(1330-1332)Gac>Tac	p.D444Y	PDE1C_ENST00000396193.1_Missense_Mutation_p.D504Y|PDE1C_ENST00000321453.7_Missense_Mutation_p.D444Y|PDE1C_ENST00000396191.1_Missense_Mutation_p.D444Y|PDE1C_ENST00000396182.2_Missense_Mutation_p.D444Y	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	444	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.D444Y(2)|p.D504Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCGGTCATGTCCGTAAGCACA	0.488000													57	165					2.37494e-14	2.87696e-14	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179472803	179472803	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:179472803G>A	ENST00000589042.1	-	276	52935	c.52711C>T	c.(52711-52713)Cct>Tct	p.P17571S	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P8506S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P15003S|TTN_ENST00000342175.6_Missense_Mutation_p.P8698S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P15930S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P8631S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15930	Fibronectin type-III 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGCCCAGGAGGAGCTAGA	0.423000													3	36					0	0	0.115264	0	0
TNFSF9	8744	broad.mit.edu	37	19	6535039	6535039	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:6535039G>C	ENST00000245817.3	+	3	765	c.727G>C	c.(727-729)Gaa>Caa	p.E243Q		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	243					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	p.E243Q(1)		central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						GGTGACCCCCGAAATCCCAGC	0.632000													9	48					0	0	0.335167	0	0
THBS2	7058	broad.mit.edu	37	6	169623382	169623382	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:169623382G>T	ENST00000366787.3	-	19	3211	c.2962C>A	c.(2962-2964)Ctg>Atg	p.L988M	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	988	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.L988M(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GTCTGAACCAGCTCCTTGCCT	0.582000													49	124					7.77092e-38	1.24502e-37	0.870114	1	0
AGMO	392636	broad.mit.edu	37	7	15601381	15601381	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:15601381G>C	ENST00000342526.3	-	1	259	c.90C>G	c.(88-90)ttC>ttG	p.F30L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	30					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.F30L(2)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CTAATGTTTGGAATGAAGTTT	0.403000													29	75					0	0	0.729181	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811180	5811180	+	Missense_Mutation	SNP	C	C	G	rs4017999		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:5811180C>G	ENST00000381095.3	-	6	2756	c.2129G>C	c.(2128-2130)cGc>cCc	p.R710P	NLGN4X_ENST00000275857.6_Missense_Mutation_p.R710P|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R710P|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R710P|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R730P	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	710					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.R710P(2)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGGACTGGGGCGCCTGTGAGT	0.532000													50	141					0	0	0.870114	0	0
RIMS2	9699	broad.mit.edu	37	8	104709469	104709469	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:104709469G>C	ENST00000406091.3	+	2	332	c.332G>C	c.(331-333)tGc>tCc	p.C111S		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	142	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.C111S(2)|p.C147S(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTCATATTGCCAAACAAAG	0.423000										HNSCC(12;0.0054)			50	219					0	0	0.870114	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899874	151899874	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:151899874A>G	ENST00000393900.3	-	3	1280	c.927T>C	c.(925-927)ttT>ttC	p.F309F	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.F309F|MAGEA12_ENST00000357916.4_Silent_p.F309F	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	309								p.F309F(2)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCTCTCTAAAAGCCCATT	0.557000													131	282					0	0	0.870114	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72038818	72038818	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:72038818T>A	ENST00000378743.3	-	4	1476	c.1118A>T	c.(1117-1119)cAg>cTg	p.Q373L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	373					RNA processing	intracellular	metal ion binding	p.Q373L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAGGCGAAGCTGTAATTCAGA	0.333000													11	37					0	0	0.361761	0	0
SYNRG	11276	broad.mit.edu	37	17	35913820	35913820	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:35913820C>T	ENST00000339208.6	-	14	2145	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N	SYNRG_ENST00000585472.1_Missense_Mutation_p.D590N|SYNRG_ENST00000502449.2_Missense_Mutation_p.D591N|SYNRG_ENST00000346661.4_Missense_Mutation_p.D669N|SYNRG_ENST00000394378.2_Missense_Mutation_p.D591N|SYNRG_ENST00000345615.4_Missense_Mutation_p.D591N|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000591288.1_Missense_Mutation_p.D508N	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	669	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCCAAAATCATCAGCCAAA	0.413000													7	125					0	0	0.248553	0	0
TIFAB	497189	broad.mit.edu	37	5	134785501	134785501	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:134785501G>T	ENST00000537858.1	-	2	329	c.129C>A	c.(127-129)gaC>gaA	p.D43E		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	43	FHA.							p.D43E(2)		breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGGTGGGCGTCCTGCCCCC	0.657000													90	49					2.08528e-44	3.43322e-44	0.870114	1	0
BCL11B	64919	broad.mit.edu	37	14	99641683	99641683	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:99641683G>A	ENST00000345514.2	-	3	1543	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	BCL11B_ENST00000357195.3_Missense_Mutation_p.S497F|BCL11B_ENST00000443726.2_Missense_Mutation_p.S303F	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	497						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGCTCGGGGGAGCTGGCGGC	0.736000			T	TLX3	T-ALL								4	5					0	0	0.217242	0	0
CNTN6	27255	broad.mit.edu	37	3	1427297	1427297	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:1427297C>A	ENST00000446702.2	+	20	3147	c.2520C>A	c.(2518-2520)gtC>gtA	p.V840V	CNTN6_ENST00000350110.2_Silent_p.V840V|CNTN6_ENST00000539053.1_Silent_p.V768V			Q9UQ52	CNTN6_HUMAN	contactin 6	840	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.V840V(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTATCAGGTCTTATACTGGA	0.358000													12	83					0.00136819	0.0014108	0.411799	1	0
SIMC1	375484	broad.mit.edu	37	5	175763780	175763780	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:175763780C>A	ENST00000443967.1	+	10	2579	c.2172C>A	c.(2170-2172)atC>atA	p.I724I	SIMC1_ENST00000430704.2_Silent_p.I309I|SIMC1_ENST00000341199.6_Silent_p.I309I|SIMC1_ENST00000332772.4_Silent_p.I185I					SUMO-interacting motifs containing 1									p.I724I(2)									TGTTAGAAATCATATTCCTCC	0.483000													188	84					1.94348e-87	3.468e-87	0.870114	1	0
NAV2	89797	broad.mit.edu	37	11	19955796	19955796	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:19955796C>A	ENST00000396085.1	+	7	2367	c.2006C>A	c.(2005-2007)aCt>aAt	p.T669N	NAV2_ENST00000527559.2_Missense_Mutation_p.T621N|NAV2_ENST00000360655.4_Missense_Mutation_p.T605N|NAV2_ENST00000349880.4_Missense_Mutation_p.T669N|NAV2_ENST00000396087.3_Missense_Mutation_p.T692N|NAV2_ENST00000540292.1_Missense_Mutation_p.T623N	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	692						nucleus	ATP binding|helicase activity	p.T692N(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CATCCCAACACTGCCACGGTT	0.552000													32	80					1.08312e-15	1.34487e-15	0.740014	1	0
HAUS4	54930	broad.mit.edu	37	14	23421768	23421768	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:23421768T>C	ENST00000206474.7	-	3	432	c.180A>G	c.(178-180)ctA>ctG	p.L60L	HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000541587.1_Silent_p.L60L|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000347758.2_Silent_p.L60L|HAUS4_ENST00000555367.1_Silent_p.L60L|HAUS4_ENST00000490506.1_Intron|HAUS4_ENST00000342454.8_Silent_p.L60L|HAUS4_ENST00000555986.1_Silent_p.L60L|RP11-298I3.5_ENST00000555074.1_Intron|HAUS4_ENST00000397409.4_Silent_p.L60L|RP11-298I3.1_ENST00000548819.1_RNA			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	60					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.L60L(2)		breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GCTCCTTTGCTAGGGTGAGGC	0.468000													99	165					0	0	0.870114	0	0
CSMD2	114784	broad.mit.edu	37	1	34312507	34312507	+	Silent	SNP	G	G	A	rs143306375		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:34312507G>A	ENST00000373381.4	-	6	1187	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	297						integral to membrane|plasma membrane	protein binding	p.R297R(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTGAATCCGCGCTGCCGGT	0.607000													113	61					0	0	0.870114	0	0
TMEM117	84216	broad.mit.edu	37	12	44781901	44781901	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:44781901G>C	ENST00000266534.3	+	8	1118	c.991G>C	c.(991-993)Ggg>Cgg	p.G331R	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.G227R	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	331						endoplasmic reticulum|integral to membrane		p.G331R(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TCATGAATATGGGCAATATAT	0.368000													11	37					0	0	0.361761	0	0
MCM3AP	8888	broad.mit.edu	37	21	47699995	47699995	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr21:47699995T>C	ENST00000397708.1	-	5	1833	c.1579A>G	c.(1579-1581)Agc>Ggc	p.S527G	MCM3AP_ENST00000291688.1_Missense_Mutation_p.S527G			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	527					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.S527G(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GTGCTCGGGCTGACTTCACCG	0.532000													108	228					0	0	0.870114	0	0
AIFM1	9131	broad.mit.edu	37	X	129264072	129264072	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:129264072G>A	ENST00000287295.3	-	15	1873	c.1643C>T	c.(1642-1644)cCg>cTg	p.P548L	AIFM1_ENST00000319908.3_Missense_Mutation_p.P544L|AIFM1_ENST00000440263.1_Missense_Mutation_p.P196L|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Missense_Mutation_p.P209L|AIFM1_ENST00000346424.2_Missense_Mutation_p.P261L	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	548					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.P544L(2)|p.P548L(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TGGAACTGCCGGGGTGCTGGG	0.542000													236	501					0	0	0.870114	0	0
RASA2	5922	broad.mit.edu	37	3	141259374	141259374	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:141259374G>T	ENST00000286364.3	+	5	485		c.e5-1		RASA2_ENST00000452898.1_Splice_Site			Q15283	RASA2_HUMAN	RAS p21 protein activator 2						intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	p.?(4)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGTCATTATAGGGTAAAGTTC	0.328000													10	19					5.50884e-06	5.84211e-06	0.411799	1	0
GABRA5	2558	broad.mit.edu	37	15	27128556	27128556	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr15:27128556C>T	ENST00000335625.5	+	6	1237	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	GABRA5_ENST00000355395.5_Missense_Mutation_p.R117C|GABRA5_ENST00000400081.3_Missense_Mutation_p.R117C|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	117					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R117C(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCCATGCAGCGCCTCCCTCT	0.537000													67	145					0	0	0.870114	0	0
DNAH7	56171	broad.mit.edu	37	2	196636546	196636546	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:196636546C>A	ENST00000312428.6	-	61	11371	c.11271G>T	c.(11269-11271)ttG>ttT	p.L3757F	DNAH7_ENST00000409063.1_Missense_Mutation_p.L240F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3757					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3757F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAAGTTTGCCCAAGATGTCAC	0.443000													193	127					8.81055e-89	1.59124e-88	0.870114	1	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													7	21					0	0	0.248553	0	0
SEC24D	9871	broad.mit.edu	37	4	119659495	119659495	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:119659495C>A	ENST00000379735.5	-	19	2691	c.2420G>T	c.(2419-2421)cGg>cTg	p.R807L	SEC24D_ENST00000419654.2_Missense_Mutation_p.R362L|SEC24D_ENST00000280551.6_Missense_Mutation_p.R806L|SEC24D_ENST00000511481.1_Missense_Mutation_p.R437L|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Missense_Mutation_p.R362L	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	806					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.R806L(2)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TAGAATTTCCCGGATGACCTT	0.423000													38	78					1.49673e-21	2.01822e-21	0.819951	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	73					0	0	0.150653	0	0
EMC1	23065	broad.mit.edu	37	1	19564614	19564614	+	Missense_Mutation	SNP	T	T	C	rs144675935		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:19564614T>C	ENST00000477853.1	-	11	1151	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.N369S|EMC1_ENST00000375208.3_Missense_Mutation_p.N348S	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1									p.N370S(2)									GTAGGTCTGATTGAAGCAAGC	0.547000													20	60					0	0	0.608945	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149131	52149131	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:52149131G>T	ENST00000360844.6	-	3	645	c.604C>A	c.(604-606)Ccc>Acc	p.P202T	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	202	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.P202T(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCGGGCCTGGGGGTGAGGGTG	0.627000													50	44					9.40368e-32	1.4153e-31	0.870114	1	0
HEPH	9843	broad.mit.edu	37	X	65420411	65420411	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:65420411C>T	ENST00000519389.1	+	12	2235	c.2056C>T	c.(2056-2058)Ccc>Tcc	p.P686S	HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Missense_Mutation_p.P635S|HEPH_ENST00000336279.5_Missense_Mutation_p.P365S|HEPH_ENST00000441993.2_Missense_Mutation_p.P635S|HEPH_ENST00000343002.2_Missense_Mutation_p.P632S			Q9BQS7	HEPH_HUMAN	hephaestin	632	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.P632S(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTCTAACCTGCCCAGGCTGGA	0.547000													21	29					0	0	0.592651	0	0
MKI67	4288	broad.mit.edu	37	10	129904904	129904904	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:129904904T>A	ENST00000368654.3	-	13	5575	c.5200A>T	c.(5200-5202)Aaa>Taa	p.K1734*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1374*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1734	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.K1734*(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAGGATACTTTGGTAGTTTTT	0.488000													55	75					0	0	0.870114	0	0
USP11	8237	broad.mit.edu	37	X	47107098	47107098	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:47107098G>T	ENST00000377107.2	+	20	2979	c.2625_splice	c.e20+1	p.E875_splice	USP11_ENST00000218348.3_Splice_Site_p.E918_splice			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	918					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E918D(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ATCAGATCGAGGTGTGACTTC	0.537000													79	161					2.73218e-42	4.47357e-42	0.870114	1	0
CYP4F22	126410	broad.mit.edu	37	19	15651310	15651310	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:15651310G>T	ENST00000269703.2	+	8	920	c.721G>T	c.(721-723)Gtc>Ttc	p.V241F	CYP4F22_ENST00000601005.2_Missense_Mutation_p.V241F	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	241						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.V241F(2)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGCTCTGTCTGTCCGGCGCCA	0.557000													37	125					4.65686e-17	5.93054e-17	0.788014	1	0
MTR	4548	broad.mit.edu	37	1	237052487	237052487	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:237052487C>T	ENST00000366577.5	+	28	3252	c.2858C>T	c.(2857-2859)cCc>cTc	p.P953L	MTR_ENST00000535889.1_Missense_Mutation_p.P902L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	953	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.P953L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTAGTGAAGCCCACGTTTATT	0.557000													74	215					0	0	0.870114	0	0
PRKAA1	5562	broad.mit.edu	37	5	40798230	40798230	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:40798230C>A	ENST00000397128.2	-	1	70	c.62G>T	c.(61-63)cGg>cTg	p.R21L	PRKAA1_ENST00000354209.3_Missense_Mutation_p.R21L|PRKAA1_ENST00000296800.4_Missense_Mutation_p.R12L	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	21					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	p.R21L(2)		breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	GATCTTCACCCGCCCGTCGTG	0.667000													22	47					2.47511e-08	2.74194e-08	0.729181	1	0
B4GALNT1	2583	broad.mit.edu	37	12	58023958	58023958	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:58023958T>C	ENST00000341156.4	-	6	1273	c.689A>G	c.(688-690)tAc>tGc	p.Y230C	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.Y175C|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.Y230C	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	230					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.Y230C(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTTGGTCTGGTAGCTTCGGCT	0.572000													21	103					0	0	0.769981	0	0
RALGAPB	57148	broad.mit.edu	37	20	37126007	37126007	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:37126007G>T	ENST00000262879.6	+	4	685	c.401G>T	c.(400-402)gGt>gTt	p.G134V	RALGAPB_ENST00000537204.1_Missense_Mutation_p.G134V|RALGAPB_ENST00000397040.1_Missense_Mutation_p.G134V|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.G134V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	134					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.G134V(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGGAACAGGGTTCCAGTCAG	0.498000													34	47					1.56442e-22	2.12875e-22	0.760397	1	0
MUC16	94025	broad.mit.edu	37	19	9021116	9021116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:9021116C>A	ENST00000397910.4	-	19	37410	c.37207G>T	c.(37207-37209)Gag>Tag	p.E12403*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12405	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E12403*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCATGTCCTCCCCATACTGC	0.552000													25	144					4.4004e-07	4.75116e-07	0.654019	1	0
EXOSC7	23016	broad.mit.edu	37	3	45038682	45038682	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:45038682G>T	ENST00000265564.7	+	4	406	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	120					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding	p.D120Y(2)		endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		AAGCAGTGTCGACTTAAAGAC	0.488000													59	111					7.47603e-22	1.01266e-21	0.870114	1	0
PCDH19	57526	broad.mit.edu	37	X	99551355	99551355	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:99551355G>T	ENST00000373034.4	-	6	5042	c.3367C>A	c.(3367-3369)Cat>Aat	p.H1123N	PCDH19_ENST00000420881.2_Missense_Mutation_p.H1075N|PCDH19_ENST00000255531.7_Missense_Mutation_p.H1076N	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1123					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H1123N(1)|p.H576N(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTGACCTCATGCATGACTTTC	0.527000													128	292					1.22322e-63	2.09493e-63	0.870114	1	0
ZNF208	7757	broad.mit.edu	37	19	22154060	22154060	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:22154060C>A	ENST00000397126.4	-	4	3924	c.3776G>T	c.(3775-3777)gGc>gTc	p.G1259V	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.G1131V(4)|p.G1259V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAGGCTTTGCCACATTCTTC	0.378000													9	35					0.00448238	0.00457448	0.307466	1	0
TLR6	10333	broad.mit.edu	37	4	38831004	38831004	+	Nonsense_Mutation	SNP	C	C	A	rs138225547		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:38831004C>A	ENST00000436693.2	-	2	210	c.91G>T	c.(91-93)Gga>Tga	p.G31*	TLR6_ENST00000381950.1_Nonsense_Mutation_p.G31*	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	31					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	p.G31*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTCATTTCCGTCGGAGAAC	0.373000													68	143					2.49587e-40	4.06431e-40	0.870114	1	0
FLNC	2318	broad.mit.edu	37	7	128496848	128496848	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:128496848C>A	ENST00000325888.8	+	45	7695	c.7434C>A	c.(7432-7434)atC>atA	p.I2478I	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.I2445I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2478	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.I2478I(2)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCACTCCATCGATGTCAAGT	0.592000													35	66					4.14481e-20	5.51408e-20	0.819951	1	0
GABBR2	9568	broad.mit.edu	37	9	101235551	101235551	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr9:101235551C>A	ENST00000259455.2	-	6	1335	c.876G>T	c.(874-876)caG>caT	p.Q292H	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	292					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.Q292H(2)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CCGTGTGCACCTGCTCCCACC	0.537000													40	57					1.91236e-09	2.16685e-09	0.847076	1	0
CDH23	64072	broad.mit.edu	37	10	73270728	73270728	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:73270728C>A	ENST00000224721.6	+	4	311	c.306C>A	c.(304-306)acC>acA	p.T102T	CDH23_ENST00000299366.7_Silent_p.T147T|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000461841.3_Silent_p.T147T|CDH23_ENST00000398809.4_Silent_p.T102T|CDH23_ENST00000398842.3_Silent_p.T102T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	102	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.T102T(4)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGAGTTCACCGTGGAGTTCT	0.617000													60	140					4.79706e-38	7.72716e-38	0.870114	1	0
CACNA1C	775	broad.mit.edu	37	12	2224402	2224402	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:2224402G>C	ENST00000399655.1	+	2	327	c.62G>C	c.(61-63)gGg>gCg	p.G21A	CACNA1C_ENST00000335762.5_Missense_Mutation_p.G21A|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G21A|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000347598.4_Missense_Mutation_p.G21A|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G21A|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G21A|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000480911.1_Missense_Mutation_p.G21A|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G21A|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G21A	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	21					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.G21A(3)|p.G51A(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCCAACTATGGGAGCCCACGC	0.582000													5	2					0	0	0.184627	0	0
CSMD3	114788	broad.mit.edu	37	8	113988081	113988081	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:113988081C>A	ENST00000297405.5	-	7	1571	c.1327G>T	c.(1327-1329)Gtt>Ttt	p.V443F	CSMD3_ENST00000343508.3_Missense_Mutation_p.V403F|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.V443F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	443						integral to membrane|plasma membrane		p.V403F(2)|p.V443F(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAGTAACAACTGCAAGCTCT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	86					6.04164e-23	8.25876e-23	0.750413	1	0
FAM110A	83541	broad.mit.edu	37	20	825669	825669	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:825669G>T	ENST00000304189.2	+	3	603	c.222G>T	c.(220-222)caG>caT	p.Q74H	FAM110A_ENST00000381939.1_Missense_Mutation_p.Q74H|FAM110A_ENST00000246100.3_Missense_Mutation_p.Q74H|FAM110A_ENST00000541082.1_Missense_Mutation_p.Q74H|FAM110A_ENST00000381941.3_Missense_Mutation_p.Q74H			Q9BQ89	F110A_HUMAN	family with sequence similarity 110, member A	74						microtubule organizing center|spindle pole	protein binding			breast(1)|lung(2)	3						TGTCCAAACAGCCGCTCTTTA	0.687000													3	14					1.23904e-05	1.30934e-05	0.184627	1	0
C10orf71	118461	broad.mit.edu	37	10	50531828	50531828	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:50531828C>T	ENST00000374144.3	+	3	1526	c.1238C>T	c.(1237-1239)aCa>aTa	p.T413I	C10orf71_ENST00000323868.4_Missense_Mutation_p.T413I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	413								p.T413I(2)		endometrium(1)	1						CCTTTGTATACAAAACACAAC	0.438000													11	171					0	0	0.435327	0	0
OR2T10	127069	broad.mit.edu	37	1	248757058	248757058	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:248757058G>T	ENST00000330500.2	-	1	42	c.12C>A	c.(10-12)gcC>gcA	p.A4A		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A4A(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGTCTGGTTGGCCAGCCGCA	0.458000													23	64					2.27525e-19	2.9738e-19	0.667858	1	0
OTUD7B	56957	broad.mit.edu	37	1	149915924	149915924	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:149915924C>A	ENST00000369135.3	-	12	2658	c.2364G>T	c.(2362-2364)tgG>tgT	p.W788C		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	788					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	p.W788C(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GACCTCCAGCCCATCCATCTG	0.547000													64	209					2.43698e-19	3.17127e-19	0.870114	1	0
EPX	8288	broad.mit.edu	37	17	56270454	56270454	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:56270454G>C	ENST00000225371.5	+	2	242	c.132G>C	c.(130-132)aaG>aaC	p.K44N		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	44					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.K44N(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CAGAGGCCAAGTTGCTGGTGG	0.617000													112	269					0	0	0.870114	0	0
IRX6	79190	broad.mit.edu	37	16	55361675	55361675	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:55361675C>A	ENST00000290552.7	+	4	1923	c.591C>A	c.(589-591)ttC>ttA	p.F197L	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	197						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F197L(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCACCTGGTTCGCCAACGCAC	0.577000													61	167					6.25564e-26	8.87705e-26	0.870114	1	0
IDS	3423	broad.mit.edu	37	X	148564704	148564704	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:148564704G>A	ENST00000340855.6	-	9	1435	c.1226C>T	c.(1225-1227)aCg>aTg	p.T409M	IDS_ENST00000541269.1_Missense_Mutation_p.T198M|IDS_ENST00000537071.1_Missense_Mutation_p.T12M|AF011889.5_ENST00000422081.1_RNA	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	409						lysosome	iduronate-2-sulfatase activity|metal ion binding	p.T409M(2)		NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCAGCCAGCGTGGGAAAAAG	0.512000													43	110					0	0	0.870114	0	0
GPR98	84059	broad.mit.edu	37	5	89920950	89920950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:89920950G>T	ENST00000405460.2	+	6	658	c.562G>T	c.(562-564)Gag>Tag	p.E188*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	188					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.E188*(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTGCAGGTAGAGGGTGGCCC	0.393000													18	13					6.94344e-10	7.92776e-10	0.539581	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64133210	64133210	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:64133210G>T	ENST00000295902.6	-	7	1541	c.956C>A	c.(955-957)tCt>tAt	p.S319Y	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S375Y	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	319						cytoplasm|nuclear membrane	zinc ion binding	p.S319Y(2)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGAGGAGTCAGAACCATTGGG	0.607000													65	294					1.43987e-31	2.15618e-31	0.870114	1	0
OR14I1	401994	broad.mit.edu	37	1	248845133	248845133	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:248845133G>T	ENST00000342623.3	-	1	496	c.473C>A	c.(472-474)aCt>aAt	p.T158N		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T158N(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CATGTTGCCAGTGTGGACGGC	0.547000													21	65					2.39556e-15	2.96215e-15	0.639603	1	0
KRT3	3850	broad.mit.edu	37	12	53189527	53189527	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:53189527G>T	ENST00000417996.2	-	1	374	c.300C>A	c.(298-300)ggC>ggA	p.G100G	KRT3_ENST00000309505.3_Silent_p.G100G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	100	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	p.G100G(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						cacctccatagccgctcccaa	0.652000													68	136					6.75472e-32	1.02178e-31	0.870114	1	0
BPI	671	broad.mit.edu	37	20	36964032	36964032	+	Missense_Mutation	SNP	C	C	A	rs143433981		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:36964032C>A	ENST00000262865.4	+	14	1470	c.1381C>A	c.(1381-1383)Ccg>Acg	p.P461T	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	461					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.P461T(2)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCTCCCGACGCCGGCCAGAGT	0.562000													72	103					4.81439e-37	7.67214e-37	0.870114	1	0
SSTR4	6754	broad.mit.edu	37	20	23016506	23016506	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:23016506A>T	ENST00000255008.3	+	1	450	c.386A>T	c.(385-387)aAc>aTc	p.N129I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	129					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.N129I(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GACGGCCTCAACATGTTCACC	0.701000													169	109					0	0	0.870114	0	0
C14orf105	55195	broad.mit.edu	37	14	57960335	57960335	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:57960335A>G	ENST00000216445.3	-	1	235	c.99T>C	c.(97-99)ttT>ttC	p.F33F	C14orf105_ENST00000526336.1_Silent_p.F33F|C14orf105_ENST00000534126.1_Silent_p.F33F|C14orf105_ENST00000422976.2_Silent_p.F33F	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	33								p.F33F(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						GATTGAATGCAAAGTCCACAC	0.463000													34	103					0	0	0.788014	0	0
OPRL1	4987	broad.mit.edu	37	20	62729409	62729409	+	Missense_Mutation	SNP	C	C	A	rs148381492		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:62729409C>A	ENST00000349451.3	+	5	900	c.488C>A	c.(487-489)aCg>aAg	p.T163K	OPRL1_ENST00000336866.2_Missense_Mutation_p.T163K|OPRL1_ENST00000355631.4_Missense_Mutation_p.T163K	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	163					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	p.T163K(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GACGTCCGCACGTCCAGCAAA	0.587000													58	78					4.13886e-29	6.10584e-29	0.870114	1	0
MYPN	84665	broad.mit.edu	37	10	69882001	69882001	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:69882001C>T	ENST00000358913.5	+	2	1294	c.806C>T	c.(805-807)cCc>cTc	p.P269L	MYPN_ENST00000373675.3_Missense_Mutation_p.P269L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.P269L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	269	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding	p.P269L(2)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGGCAACCTCCCCGGTTCACT	0.527000													24	117					0	0	0.639603	0	0
PLIN3	10226	broad.mit.edu	37	19	4859660	4859660	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:4859660T>C	ENST00000221957.4	-	4	466	c.290A>G	c.(289-291)cAc>cGc	p.H97R	PLIN3_ENST00000585479.1_Missense_Mutation_p.H97R|PLIN3_ENST00000592528.1_Missense_Mutation_p.H97R	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	97					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	p.H97R(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CAGCCCCCTGTGGGCGTATTC	0.567000													20	101					0	0	0.667858	0	0
PTPRH	5794	broad.mit.edu	37	19	55716908	55716908	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:55716908G>T	ENST00000376350.3	-	4	427	c.405C>A	c.(403-405)atC>atA	p.I135I	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	135	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.I135I(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGGTCAGGGCGATGGAGCTGT	0.587000													73	78					1.07363e-35	1.67509e-35	0.870114	1	0
STX18	53407	broad.mit.edu	37	4	4458978	4458978	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:4458978C>G	ENST00000306200.2	-	5	500	c.437G>C	c.(436-438)tGt>tCt	p.C146S	STX18_ENST00000505286.1_Missense_Mutation_p.C146S	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	146					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity	p.C146S(2)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		GTAAAGTTTACATACTCCTGT	0.353000													22	46					0	0	0.624587	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3684492	3684492	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:3684492G>A	ENST00000344754.4	-	4	952	c.953C>T	c.(952-954)cCc>cTc	p.P318L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P318L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	318	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P318L(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GAGGCTGATGGGGGGTGAGAC	0.612000													51	76					0	0	0.870114	0	0
CCER1	196477	broad.mit.edu	37	12	91348044	91348044	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:91348044G>T	ENST00000358859.2	-	1	909	c.476C>A	c.(475-477)cCg>cAg	p.P159Q	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CGGGCTCCGCGGGTAGGAGTG	0.706000													7	55					0.00010058	0.000104435	0.411799	1	0
HEG1	57493	broad.mit.edu	37	3	124731954	124731954	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:124731954G>A	ENST00000311127.4	-	6	2536	c.2469C>T	c.(2467-2469)tcC>tcT	p.S823S		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	823						extracellular region|integral to membrane	calcium ion binding	p.S823S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TTTGCTCTGTGGAGGACTCTG	0.478000													86	172					0	0	0.870114	0	0
KDM3B	51780	broad.mit.edu	37	5	137722285	137722285	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:137722285G>A	ENST00000314358.5	+	7	1555	c.1355G>A	c.(1354-1356)gGc>gAc	p.G452D	KDM3B_ENST00000542866.1_5'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.G108D	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	452					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.G452D(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAACAGAAAGGCAGCCGGTCG	0.527000													50	164					0	0	0.870114	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144855788	144855788	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:144855788C>A	ENST00000369359.4	-	44	7211	c.7173G>T	c.(7171-7173)tgG>tgT	p.W2391C	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.W2340C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.W2149C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.W2255C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.W2255C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2255					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.W2255C(4)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGCCGCTCTCCAGAACATGG	0.582000			T	PDGFRB	MPD								38	155					2.32173e-10	2.66106e-10	0.804634	1	0
OR2T2	401992	broad.mit.edu	37	1	248616139	248616139	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:248616139T>G	ENST00000342927.3	+	1	63	c.41T>G	c.(40-42)gTc>gGc	p.V14G		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V14S(2)|p.V14A(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACTAACTTCGTCCTCACAGGC	0.502000													40	197					0	0	0.870114	0	0
STARD8	9754	broad.mit.edu	37	X	67943666	67943666	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:67943666C>T	ENST00000252336.6	+	12	3130	c.2758C>T	c.(2758-2760)Cgc>Tgc	p.R920C	STARD8_ENST00000374597.3_Missense_Mutation_p.R920C|STARD8_ENST00000374599.3_Missense_Mutation_p.R1000C	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	920	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.R920C(2)|p.R1000C(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCATCCCTGCCGCGACTTTGT	0.627000													4	29					0	0	0.150653	0	0
DMGDH	29958	broad.mit.edu	37	5	78325854	78325854	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:78325854C>A	ENST00000255189.3	-	11	1715	c.1687G>T	c.(1687-1689)Ggt>Tgt	p.G563C	DMGDH_ENST00000540686.1_Missense_Mutation_p.G183C|DMGDH_ENST00000380311.4_Missense_Mutation_p.G362C	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	563					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.G563C(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTTGTAAAACCCACCTACATA	0.348000													15	48					5.01169e-05	5.2403e-05	0.520397	1	0
CCDC129	223075	broad.mit.edu	37	7	31690852	31690852	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:31690852C>T	ENST00000319386.3	+	12	3229	c.2236C>T	c.(2236-2238)Ctc>Ttc	p.L746F	CCDC129_ENST00000407970.3_Missense_Mutation_p.L894F|CCDC129_ENST00000451887.2_Missense_Mutation_p.L920F|CCDC129_ENST00000409210.1_Missense_Mutation_p.L802F			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	894								p.L894F(2)|p.L746F(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACAGCAGGCCCTCTTTTCCAG	0.473000													48	109					0	0	0.864702	0	0
OR2W3	343171	broad.mit.edu	37	1	248059153	248059153	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:248059153G>T	ENST00000537741.1	+	3	522	c.265G>T	c.(265-267)Gac>Tac	p.D89Y	OR2W3_ENST00000360358.3_Missense_Mutation_p.D89Y			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D89Y(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TAATGGATGTGACAAGACCAT	0.567000													94	171					6.83469e-46	1.14424e-45	0.870114	1	0
BTK	695	broad.mit.edu	37	X	100613339	100613339	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:100613339G>A	ENST00000308731.7	-	12	1224	c.1061C>T	c.(1060-1062)aCc>aTc	p.T354I	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	354	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.T354I(2)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTCAGGGATGGTGCTGAAAAG	0.502000									Agammaglobulinemia, X-linked				147	334					0	0	0.870114	0	0
PIDD	55367	broad.mit.edu	37	11	804256	804256	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:804256C>A	ENST00000347755.5	-	2	274	c.133G>T	c.(133-135)Ggg>Tgg	p.G45W	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Missense_Mutation_p.G45W	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	45					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										TGGCAGCCCCCGGGGTACAGG	0.652000													3	49					0.115264	0.116043	0.115264	1	0
C10orf53	282966	broad.mit.edu	37	10	50916417	50916417	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:50916417C>A	ENST00000374112.3	+	3	240	c.228C>A	c.(226-228)acC>acA	p.T76T	C10orf53_ENST00000535836.1_Silent_p.T76T	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	79								p.T76T(2)		endometrium(1)|lung(6)	7		all_neural(218;0.107)				gcaagctcaccccaagtagtg	0.493000													48	104					6.23363e-37	9.88097e-37	0.870114	1	0
ENO3	2027	broad.mit.edu	37	17	4857038	4857038	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:4857038G>T	ENST00000323997.6	+	6	474	c.342G>T	c.(340-342)gtG>gtT	p.V114V	ENO3_ENST00000518175.1_Silent_p.V114V|ENO3_ENST00000519584.1_Silent_p.V71V	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	114					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	p.V114V(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TCCTGGGCGTGTCCTTGGCCG	0.607000													134	128					2.90618e-78	5.12451e-78	0.870114	1	0
MAGEE1	57692	broad.mit.edu	37	X	75648524	75648524	+	Silent	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:75648524C>T	ENST00000361470.2	+	1	479	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	67						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CAAGCACCTCCGTTCTGCCCA	0.682000													6	20					0	0	0.217242	0	0
OR5T2	219464	broad.mit.edu	37	11	56000141	56000141	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:56000141C>A	ENST00000313264.4	-	1	596	c.521G>T	c.(520-522)aGc>aTc	p.S174I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S174I(2)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GGGTGACATGCTCACTGAATA	0.433000													52	130					3.68337e-26	5.25189e-26	0.870114	1	0
NOLC1	9221	broad.mit.edu	37	10	103917833	103917833	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:103917833G>T	ENST00000405356.1	+	5	704	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.A158S|NOLC1_ENST00000605788.1_Missense_Mutation_p.A157S			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	157	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	p.A157S(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AGCCAAGGCAGCCAAAGCTCC	0.488000													44	126					8.20599e-20	1.07726e-19	0.859065	1	0
OR10A4	283297	broad.mit.edu	37	11	6898596	6898596	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:6898596T>G	ENST00000379829.2	+	1	741	c.718T>G	c.(718-720)Tcc>Gcc	p.S240A		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S240A(2)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGGCATTCTCCACCTGTTC	0.507000													28	178					0	0	0.740014	0	0
GLI2	2736	broad.mit.edu	37	2	121747600	121747600	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:121747600G>T	ENST00000452319.1	+	14	4170	c.4110G>T	c.(4108-4110)caG>caT	p.Q1370H	GLI2_ENST00000361492.4_Missense_Mutation_p.Q1370H|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1370					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q1370H(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCCTAGTGCAGCCCCGGCCTC	0.701000													30	17					3.11337e-16	3.89826e-16	0.769981	1	0
OR4K15	81127	broad.mit.edu	37	14	20443793	20443793	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:20443793T>A	ENST00000305051.5	+	1	191	c.116T>A	c.(115-117)cTg>cAg	p.L39Q		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L39Q(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGTGTTGCTGGGACTGTCT	0.403000													31	98					0	0	0.779181	0	0
MYH7	4625	broad.mit.edu	37	14	23887584	23887584	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:23887584G>A	ENST00000355349.3	-	30	4166	c.4004C>T	c.(4003-4005)tCg>tTg	p.S1335L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335L(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGCCGGGCCGACTGCAGTGC	0.657000													18	89					0	0	0.575678	0	0
SLC9A1	6548	broad.mit.edu	37	1	27428248	27428248	+	Silent	SNP	G	G	T	rs137936112		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:27428248G>T	ENST00000263980.3	-	10	2580	c.2005C>A	c.(2005-2007)Cgg>Agg	p.R669R	SLC9A1_ENST00000545949.1_Silent_p.R330R	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	669					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.R669R(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TTCTGCCTCCGGAGCAGCATC	0.637000													46	21					3.68337e-26	5.25189e-26	0.870114	1	0
PSG8	440533	broad.mit.edu	37	19	43359723	43359723	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:43359723C>A	ENST00000401467.2	-	1	120	c.49G>T	c.(49-51)Ggg>Tgg	p.G17W	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	17						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGCAGGACCCCCTTCCATTTG	0.572000													175	160					6.2965e-74	1.09728e-73	0.870114	1	0
EP400	57634	broad.mit.edu	37	12	132510236	132510236	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:132510236G>T	ENST00000333577.4	+	26	5118	c.5009G>T	c.(5008-5010)cGa>cTa	p.R1670L	EP400_ENST00000389561.2_Missense_Mutation_p.R1634L|EP400_ENST00000332482.4_Missense_Mutation_p.R1597L|EP400_ENST00000389562.2_Missense_Mutation_p.R1633L|EP400_ENST00000330386.6_Missense_Mutation_p.R1553L			Q96L91	EP400_HUMAN	E1A binding protein p400	1670					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.R1633L(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCTACCTTCGAGCCCCTGGC	0.672000													41	69					8.20599e-20	1.07726e-19	0.859065	1	0
EPB41L4B	54566	broad.mit.edu	37	9	112018498	112018498	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr9:112018498C>A	ENST00000374566.3	-	9	1364	c.847G>T	c.(847-849)Gat>Tat	p.D283Y	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.D283Y	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	283	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.D283Y(4)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCACAGCCATCTCTTCCCTAC	0.398000													36	82					1.0096e-33	1.55083e-33	0.870114	1	0
SLC30A9	10463	broad.mit.edu	37	4	42003698	42003698	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:42003698G>C	ENST00000264451.6	+	2	355	c.175G>C	c.(175-177)Ggt>Cgt	p.G59R		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	59					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	p.G59R(2)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCATATATTGGTACCCTGAG	0.353000													14	51					0	0	0.479597	0	0
FOXP2	93986	broad.mit.edu	37	7	114270018	114270018	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:114270018G>A	ENST00000393500.3	+	11	1150	c.330G>A	c.(328-330)caG>caA	p.Q110Q	FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q			O15409	FOXP2_HUMAN	forkhead box P2	185	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcaacagcagcagcagc	0.502000													11	33					0	0	0.435327	0	0
PDE2A	5138	broad.mit.edu	37	11	72308639	72308639	+	Silent	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:72308639C>T	ENST00000334456.5	-	5	593	c.348G>A	c.(346-348)cgG>cgA	p.R116R	PDE2A_ENST00000540345.1_Silent_p.R107R|PDE2A_ENST00000544570.1_Silent_p.R109R|PDE2A_ENST00000444035.2_Silent_p.R107R|PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000540380.1_5'UTR	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	116					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			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)	TGCAGCCCAGCCGCTTCTGGG	0.627000													3	50					0	0	0.115264	0	0
PDZD2	23037	broad.mit.edu	37	5	32048735	32048735	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:32048735G>T	ENST00000438447.1	+	8	1998	c.1610G>T	c.(1609-1611)cGa>cTa	p.R537L	PDZD2_ENST00000282493.3_Missense_Mutation_p.R537L			O15018	PDZD2_HUMAN	PDZ domain containing 2	537					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.R537L(2)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGGTCTCCCGAGATGGCCGG	0.562000													45	194					5.44703e-19	7.0269e-19	0.847076	1	0
COQ7	10229	broad.mit.edu	37	16	19087069	19087069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:19087069G>T	ENST00000321998.5	+	4	460	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	COQ7_ENST00000544894.2_Nonsense_Mutation_p.E94*|COQ7_ENST00000569127.1_Nonsense_Mutation_p.E109*|COQ7_ENST00000568985.1_Nonsense_Mutation_p.E132*	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	132	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	p.E132*(2)		breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						GCTCGGGAAGGAAGGTGCCAT	0.552000													34	235					3.33393e-15	4.08853e-15	0.804634	1	0
SLC19A1	6573	broad.mit.edu	37	21	46935678	46935678	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr21:46935678T>A	ENST00000311124.4	-	6	1822	c.1670A>T	c.(1669-1671)gAg>gTg	p.E557V	SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000380010.4_Intron|SLC19A1_ENST00000485649.2_Missense_Mutation_p.E517V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	557					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	p.E557V(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		ATCTGCAGCCTCAGGGCCTGA	0.622000													15	53					0	0	0.575678	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128957764	128957764	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:128957764G>A	ENST00000357166.6	-	5	769	c.378C>T	c.(376-378)atC>atT	p.I126I	ZDHHC9_ENST00000491039.1_5'UTR|ZDHHC9_ENST00000371064.3_Silent_p.I126I	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	126						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.I126I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GGAAATTCTTGATACGAGGCG	0.493000													28	453					0	0	0.769981	0	0
IRX4	50805	broad.mit.edu	37	5	1879706	1879706	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:1879706G>T	ENST00000505790.1	-	5	1104	c.648C>A	c.(646-648)gaC>gaA	p.D216E	IRX4_ENST00000513692.1_Missense_Mutation_p.D216E|IRX4_ENST00000231357.2_Missense_Mutation_p.D216E|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	216					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D216E(1)		endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCCGCTTCTCGTCTGCGCACT	0.672000													31	157					3.99451e-17	5.10886e-17	0.740014	1	0
CREB3L3	84699	broad.mit.edu	37	19	4168422	4168422	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:4168422G>A	ENST00000078445.2	+	6	936	c.789G>A	c.(787-789)aaG>aaA	p.K263K	CREB3L3_ENST00000602257.1_Silent_p.K261K|CREB3L3_ENST00000595923.1_Silent_p.K262K|CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000252587.3_Silent_p.K203K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	263					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K263K(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGAAGAAGAAGAAGGAAT	0.537000													13	52					0	0	0.411799	0	0
IGSF10	285313	broad.mit.edu	37	3	151164070	151164070	+	Silent	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:151164070C>T	ENST00000282466.3	-	4	3698	c.3699G>A	c.(3697-3699)gtG>gtA	p.V1233V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1233					cell differentiation|multicellular organismal development|ossification	extracellular region		p.V1233V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGGAAGCATCACAGCTGTGC	0.383000													88	149					0	0	0.870114	0	0
PSG8	440533	broad.mit.edu	37	19	43359724	43359724	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:43359724C>A	ENST00000401467.2	-	1	119	c.48G>T	c.(46-48)aaG>aaT	p.K16N	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	16						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GCAGGACCCCCTTCCATTTGA	0.572000													178	162					2.29391e-76	4.02109e-76	0.870114	1	0
OR5V1	81696	broad.mit.edu	37	6	29323725	29323725	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:29323725A>G	ENST00000377154.1	-	4	547	c.248T>C	c.(247-249)gTg>gCg	p.V83A	OR5V1_ENST00000543825.1_Missense_Mutation_p.V83A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V83A(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGGAGGTGCACCATCATCTG	0.433000													19	156					0	0	0.557998	0	0
PCLO	27445	broad.mit.edu	37	7	82764395	82764395	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:82764395G>A	ENST00000423517.2	-	3	2808	c.2471C>T	c.(2470-2472)cCt>cTt	p.P824L	PCLO_ENST00000333891.8_Missense_Mutation_p.P824L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	770	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P824L(4)|p.P770L(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTGATGCAGGTCGAGGTAT	0.438000													102	175					0	0	0.870114	0	0
OBSCN	84033	broad.mit.edu	37	1	228548231	228548231	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:228548231C>G	ENST00000284548.11	+	81	19712	c.19638C>G	c.(19636-19638)agC>agG	p.S6546R	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.S3665R			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7567	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.S6546R(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGTCCGTAGCCTTGAGGGCA	0.701000													20	30					0	0	0.624587	0	0
MICU3	286097	broad.mit.edu	37	8	16884850	16884850	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:16884850A>C	ENST00000318063.5	+	1	104	c.62A>C	c.(61-63)cAc>cCc	p.H21P		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		CTCTGCGCTCACCAGCCCCTC	0.721000													5	18					0	0	0.500413	0	0
OR10H4	126541	broad.mit.edu	37	19	16060247	16060247	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:16060247C>G	ENST00000322107.1	+	1	430	c.430C>G	c.(430-432)Cat>Gat	p.H144D		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	144			H -> R (in dbSNP:rs16980822).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H144D(2)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGACTGTGCCCATCTTGTGGC	0.542000													37	124					0	0	0.788014	0	0
SPTA1	6708	broad.mit.edu	37	1	158622310	158622310	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:158622310C>A	ENST00000368148.3	-	23	3502	c.3322G>T	c.(3322-3324)Gtg>Ttg	p.V1108L	SPTA1_ENST00000368147.3_Missense_Mutation_p.V1108L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1108					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.V1108L(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTAGTTCCACTCCAGTGTTT	0.408000													45	117					4.0306e-16	5.0256e-16	0.870114	1	0
NEK4	6787	broad.mit.edu	37	3	52794870	52794870	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:52794870T>A	ENST00000233027.5	-	6	1106	c.904A>T	c.(904-906)Aat>Tat	p.N302Y	NEK4_ENST00000383721.4_Missense_Mutation_p.N302Y|NEK4_ENST00000535191.1_Missense_Mutation_p.N213Y	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	302					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.N302Y(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		ACTTCATGATTTGATTCTGCC	0.378000													74	125					0	0	0.870114	0	0
HS1BP3	64342	broad.mit.edu	37	2	20824527	20824527	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:20824527G>T	ENST00000304031.3	-	5	774	c.749C>A	c.(748-750)cCa>cAa	p.P250Q		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	250					cell communication		phosphatidylinositol binding	p.P250Q(2)		endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGTCCTGTGGAGACAGCTT	0.642000													23	198					1.1804e-14	1.43575e-14	0.667858	1	0
KIF2B	84643	broad.mit.edu	37	17	51900791	51900791	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:51900791G>T	ENST00000268919.4	+	1	553	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	133					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.V133L(2)|p.V133M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGCCTGGATGTGAGGGTCCC	0.582000													71	178					3.58576e-35	5.53656e-35	0.870114	1	0
NBPF14	25832	broad.mit.edu	37	1	148016411	148016411	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:148016411G>A	ENST00000369219.1	-	7	847	c.831C>T	c.(829-831)ccC>ccT	p.P277P				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	277	NBPF 3.					cytoplasm		p.P277P(2)|p.P283L(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGACTCACCTGGGACCTGTTG	0.438000													146	106					0	0	0.870114	0	0
COL4A1	1282	broad.mit.edu	37	13	110862504	110862504	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr13:110862504C>G	ENST00000375820.4	-	9	645	c.524G>C	c.(523-525)aGa>aCa	p.R175T	COL4A1_ENST00000543140.1_Missense_Mutation_p.R175T	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	175	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.R175T(2)|p.R166T(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGAAATCCTCTTTCACCTTT	0.453000													36	43					0	0	0.812448	0	0
TLL2	7093	broad.mit.edu	37	10	98146807	98146807	+	Missense_Mutation	SNP	G	G	T	rs144026118		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:98146807G>T	ENST00000357947.3	-	14	1980	c.1755C>A	c.(1753-1755)caC>caA	p.H585Q		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	585	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.H585Q(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CGCACCCGCCGTGATCTGGCC	0.582000													84	100					2.18481e-45	3.61707e-45	0.870114	1	0
CSMD3	114788	broad.mit.edu	37	8	114186033	114186033	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:114186033G>A	ENST00000297405.5	-	4	871	c.627C>T	c.(625-627)atC>atT	p.I209I	CSMD3_ENST00000343508.3_Silent_p.I169I|CSMD3_ENST00000455883.2_Silent_p.I209I|CSMD3_ENST00000352409.3_Silent_p.I209I|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	209	Sushi 1.					integral to membrane|plasma membrane		p.I209I(2)|p.I169I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCCATCAAGGATGTATCCAG	0.458000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	139					0	0	0.693898	0	0
CELF2	10659	broad.mit.edu	37	10	11047364	11047364	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:11047364A>G	ENST00000379261.4	+	1	106	c.14A>G	c.(13-15)aAa>aGa	p.K5R	CELF2_ENST00000416382.2_Missense_Mutation_p.K5R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	5	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	p.K5R(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CGCTGTCCCAAATCCGCTGTT	0.438000													30	226					0	0	0.760397	0	0
TEKT1	83659	broad.mit.edu	37	17	6704148	6704148	+	Missense_Mutation	SNP	G	G	C	rs150562113		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:6704148G>C	ENST00000338694.2	-	7	1096	c.967C>G	c.(967-969)Cgg>Ggg	p.R323G	TEKT1_ENST00000535086.1_Missense_Mutation_p.R177G	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	323					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.H322_R323>QG(1)|p.R323G(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ACGTTCGGCCGGTGTGTCCTG	0.527000											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	117	186					0	0	0.870114	0	0
SMG1	23049	broad.mit.edu	37	16	18823123	18823123	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:18823123C>A	ENST00000446231.2	-	62	11280	c.10868G>T	c.(10867-10869)cGa>cTa	p.R3623L	SMG1_ENST00000389467.3_Missense_Mutation_p.R3624L|RP11-1035H13.2_ENST00000569096.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3623					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R3619L(2)|p.R3623L(2)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATCAACATCTCGGCCCTCTAA	0.443000													191	414					2.6021e-81	4.61562e-81	0.870114	1	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase.		L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537000	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			77	214					0	0	0.870114	0	0
FADS6	283985	broad.mit.edu	37	17	72877234	72877234	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:72877234C>A	ENST00000310226.6	-	4	704	c.690G>T	c.(688-690)ctG>ctT	p.L230L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	236					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GGTGGGCCAACAGGGATCTGG	0.597000													12	47					1.5842e-08	1.76154e-08	0.435327	1	0
OR51G1	79324	broad.mit.edu	37	11	4944698	4944698	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:4944698G>T	ENST00000321961.2	-	1	939	c.872C>A	c.(871-873)cCc>cAc	p.P291H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P291H(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTAGATGATGGGGTTCATAAG	0.438000													47	117					1.06522e-23	1.47644e-23	0.864702	1	0
AHRR	57491	broad.mit.edu	37	5	353963	353963	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:353963C>G	ENST00000316418.5	+	3	237	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	AHRR_ENST00000505113.1_Missense_Mutation_p.L65V|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Missense_Mutation_p.L61V	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	65	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.L61V(2)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CATCTCCAAGCTGGACAAGCT	0.592000													77	211					0	0	0.870114	0	0
ARL5B	221079	broad.mit.edu	37	10	18948604	18948604	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:18948604G>T	ENST00000377275.3	+	1	271	c.38G>T	c.(37-39)tGt>tTt	p.C13F		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	13					small GTPase mediated signal transduction	intracellular	GTP binding	p.C13F(1)		lung(1)|ovary(1)	2						AGCCTCTTCTGTAACCAAGGT	0.692000													8	23					2.80697e-09	3.14466e-09	0.387290	1	0
ZNF479	90827	broad.mit.edu	37	7	57188147	57188147	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:57188147G>C	ENST00000331162.4	-	5	1245	c.975C>G	c.(973-975)tgC>tgG	p.C325W		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C325W(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCTCACACCTGCAGGGTTTCT	0.453000													14	33					0	0	0.500413	0	0
MUC17	140453	broad.mit.edu	37	7	100682066	100682066	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:100682066C>A	ENST00000306151.4	+	3	7433	c.7369C>A	c.(7369-7371)Ccg>Acg	p.P2457T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2457	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2457T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAACCACTCCGTTAGCAAG	0.537000													119	514					6.00419e-47	1.01088e-46	0.870114	1	0
CDC42EP1	11135	broad.mit.edu	37	22	37964344	37964344	+	Silent	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr22:37964344C>T	ENST00000249014.4	+	3	1113	c.693C>T	c.(691-693)ccC>ccT	p.P231P		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	231	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	p.P231P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CTGCAAACCCCCCAGCCCCTA	0.662000													13	24					0	0	0.750413	0	0
COG5	10466	broad.mit.edu	37	7	106898754	106898754	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:106898754C>A	ENST00000393603.2	-	15	2014	c.1743G>T	c.(1741-1743)gtG>gtT	p.V581V	COG5_ENST00000347053.3_Silent_p.V581V|COG5_ENST00000297135.3_Silent_p.V581V	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	581					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.V581V(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ACAATGAATTCACTACTGCCA	0.338000													27	55					2.65835e-16	3.34256e-16	0.717897	1	0
CHD5	26038	broad.mit.edu	37	1	6208958	6208958	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:6208958G>A	ENST00000262450.3	-	9	1438	c.1339C>T	c.(1339-1341)Ctg>Ttg	p.L447L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	447	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.L447L(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATCTCGGGCAGCGGCGGGTTG	0.701000													78	40					0	0	0.870114	0	0
RIOK2	55781	broad.mit.edu	37	5	96506952	96506952	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:96506952T>A	ENST00000283109.3	-	6	805	c.737A>T	c.(736-738)gAt>gTt	p.D246V	RIOK2_ENST00000508447.1_Missense_Mutation_p.D246V|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	246							ATP binding|protein serine/threonine kinase activity	p.D246V(4)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CTGTGGAAAATCAATCATGGT	0.318000													17	55					0	0	0.681144	0	0
ALMS1P	200420	broad.mit.edu	37	2	73901983	73901983	+	RNA	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:73901983C>G	ENST00000450720.1	+	0	936					NR_003683.2													p.Q152E(2)									CCTGGCTGTCCAGAAGAACAA	0.478000													27	35					0	0	0.729181	0	0
OBSCN	84033	broad.mit.edu	37	1	228492264	228492264	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:228492264A>G	ENST00000570156.2	+	53	14337	c.14263A>G	c.(14263-14265)Agg>Ggg	p.R4755G	OBSCN_ENST00000366707.4_Missense_Mutation_p.R1445G|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3798					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R4380G(2)|p.R4510G(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTCACGATCAGGGGTAAAGA	0.557000													34	96					0	0	0.804634	0	0
PBRM1	55193	broad.mit.edu	37	3	52584605	52584605	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:52584605C>A	ENST00000356770.4	-	27	4470	c.4468G>T	c.(4468-4470)Ggc>Tgc	p.G1490C	PBRM1_ENST00000337303.4_Missense_Mutation_p.G1470C|PBRM1_ENST00000410007.1_Missense_Mutation_p.G1497C|PBRM1_ENST00000409114.3_Missense_Mutation_p.G1540C|PBRM1_ENST00000394830.3_Missense_Mutation_p.G1470C|PBRM1_ENST00000409057.1_Missense_Mutation_p.G1522C|PBRM1_ENST00000409767.1_Missense_Mutation_p.G1485C|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000296302.7_Missense_Mutation_p.G1577C			Q86U86	PB1_HUMAN	polybromo 1	1577	Pro-rich.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.G1577C(1)|p.G1490C(1)|p.G1470C(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGATGTGGGCCGGGATATGGA	0.572000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								27	98					3.65163e-15	4.45978e-15	0.706142	1	0
SDHAP1	255812	broad.mit.edu	37	3	195711454	195711454	+	RNA	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:195711454C>A	ENST00000427841.1	-	0	493					NR_003264.2																						CCAGAGCCTCCCGCCCATCAC	0.572000													8	92					1.02788e-11	1.19187e-11	0.520397	1	0
OR51V1	283111	broad.mit.edu	37	11	5221796	5221796	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:5221796G>T	ENST00000321255.1	-	1	134	c.135C>A	c.(133-135)gcC>gcA	p.A45A		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A45A(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGCACCATGGCATAGATTG	0.512000													40	128					1.59932e-28	2.33627e-28	0.834066	1	0
PDE1C	5137	broad.mit.edu	37	7	31864558	31864558	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:31864558C>A	ENST00000396184.3	-	14	1533	c.1329G>T	c.(1327-1329)acG>acT	p.T443T	PDE1C_ENST00000396193.1_Silent_p.T503T|PDE1C_ENST00000321453.7_Silent_p.T443T|PDE1C_ENST00000396191.1_Silent_p.T443T|PDE1C_ENST00000396182.2_Silent_p.T443T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	443	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.T443T(2)|p.D444Y(2)|p.T503T(1)|p.D504Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CGGTCATGTCCGTAAGCACAG	0.483000													58	164					2.75338e-15	3.39052e-15	0.870114	1	0
MUC16	94025	broad.mit.edu	37	19	9071071	9071071	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:9071071G>T	ENST00000397910.4	-	3	16578	c.16375C>A	c.(16375-16377)Ctg>Atg	p.L5459M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5461	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L5459M(4)|p.L1092M(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTCCCCCAGGGTGGAGGTG	0.498000													61	221					1.44317e-28	2.11854e-28	0.870114	1	0
MED24	9862	broad.mit.edu	37	17	38192396	38192396	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:38192396G>A	ENST00000394126.1	-	3	718	c.300C>T	c.(298-300)taC>taT	p.Y100Y	MED24_ENST00000479829.1_5'UTR|MED24_ENST00000394128.2_Silent_p.Y75Y|MED24_ENST00000356271.3_Intron|MED24_ENST00000394127.2_Intron|MED24_ENST00000501516.3_Silent_p.Y75Y			O75448	MED24_HUMAN	mediator complex subunit 24	75					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.Y75Y(2)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GGACAGAAGAGTAGGACACCA	0.498000													39	102					0	0	0.834066	0	0
OGDHL	55753	broad.mit.edu	37	10	50946023	50946023	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:50946023G>A	ENST00000374103.4	-	19	2572	c.2487C>T	c.(2485-2487)cgC>cgT	p.R829R	OGDHL_ENST00000432695.1_Silent_p.R620R|OGDHL_ENST00000419399.1_Silent_p.R772R|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	829					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R829R(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGATCTGCCGGCGCAGCACGT	0.652000													65	288					0	0	0.870114	0	0
KMT2C	58508	broad.mit.edu	37	7	151962197	151962197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:151962197G>T	ENST00000355193.2	-	8	1328	c.1110C>A	c.(1108-1110)tgC>tgA	p.C370*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.C370*					lysine (K)-specific methyltransferase 2C									p.C370*(2)									CTATATCCAGGCACATTCCAT	0.453000													107	418					4.55725e-88	8.18109e-88	0.870114	1	0
CXorf40B	541578	broad.mit.edu	37	X	149101918	149101918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:149101918C>A	ENST00000370406.3	-	4	1003	c.175G>T	c.(175-177)Gag>Tag	p.E59*	CXorf40B_ENST00000462691.1_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000370404.1_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000355203.2_Nonsense_Mutation_p.E59*			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	59								p.E59*(2)		endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCGAGTCTCTCCACCAGCAGC	0.577000													82	314					1.31735e-33	2.00291e-33	0.870114	1	0
OPN5	221391	broad.mit.edu	37	6	47775990	47775990	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:47775990A>T	ENST00000489301.2	+	5	942	c.857A>T	c.(856-858)cAg>cTg	p.Q286L	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Missense_Mutation_p.Q286L|OPN5_ENST00000393699.2_Missense_Mutation_p.Q286L			Q6U736	OPN5_HUMAN	opsin 5	286					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.Q286L(2)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						ATTCCCATACAGCTCTCTGTG	0.458000													65	192					0	0	0.870114	0	0
HERC2	8924	broad.mit.edu	37	15	28424343	28424343	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr15:28424343T>C	ENST00000261609.7	-	58	9072	c.8964A>G	c.(8962-8964)acA>acG	p.T2988T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2988					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T2988T(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCTGACAGTGTCTCAGAGA	0.294000													64	100					0	0	0.870114	0	0
NLRP13	126204	broad.mit.edu	37	19	56443508	56443508	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:56443508C>A	ENST00000588751.1	-	1	194	c.170G>T	c.(169-171)tGg>tTg	p.W57L	NLRP13_ENST00000342929.3_Missense_Mutation_p.W57L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	57	DAPIN.						ATP binding	p.W57L(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAGTTTGCCCAGGGGATACG	0.547000													121	91					4.03838e-40	6.54042e-40	0.870114	1	0
ALS2	57679	broad.mit.edu	37	2	202609145	202609145	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:202609145T>C	ENST00000264276.6	-	10	2378	c.2006A>G	c.(2005-2007)tAt>tGt	p.Y669C		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	669					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	p.Y669C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCTGCTTATATATCCAAGCTG	0.353000													48	30					0	0	0.870114	0	0
DBX1	120237	broad.mit.edu	37	11	20177828	20177828	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:20177828G>T	ENST00000524983.2	-	4	1252	c.964C>A	c.(964-966)Cct>Act	p.P322T	DBX1_ENST00000227256.3_Missense_Mutation_p.P361T			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	322					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P361T(2)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						AAGTCCGAAGGTTTCCCGGGA	0.652000													102	227					2.78421e-50	4.71418e-50	0.870114	1	0
GOLIM4	27333	broad.mit.edu	37	3	167728078	167728078	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:167728078T>C	ENST00000470487.1	-	16	2759	c.2070A>G	c.(2068-2070)tcA>tcG	p.S690S	GOLIM4_ENST00000309027.4_Silent_p.S662S	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	690					transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		p.S690S(2)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTCGATGTGATTTCTCAG	0.493000													38	147					0	0	0.834066	0	0
AVPR2	554	broad.mit.edu	37	X	153171455	153171455	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:153171455C>A	ENST00000358927.2	+	3	704	c.495C>A	c.(493-495)gcC>gcA	p.A165A	AVPR2_ENST00000337474.5_Silent_p.A165A|AVPR2_ENST00000370049.1_Silent_p.A165A			P30518	V2R_HUMAN	arginine vasopressin receptor 2	165					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	p.A165A(2)|p.L168fs*41(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGCTTGGGCCTTCTCGCTCC	0.662000													40	88					9.8876e-21	1.3213e-20	0.804634	1	0
GALNTL5	168391	broad.mit.edu	37	7	151664369	151664369	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:151664369C>A	ENST00000392800.2	+	2	292	c.38C>A	c.(37-39)tCc>tAc	p.S13Y	GALNTL5_ENST00000431418.2_Missense_Mutation_p.S13Y	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	13						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.S13Y(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TTCTATGGGTCCTTGACATTT	0.383000													14	62					9.05144e-12	1.06194e-11	0.435327	1	0
ASPM	259266	broad.mit.edu	37	1	197104226	197104226	+	Splice_Site	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:197104226C>A	ENST00000367409.4	-	5	2429	c.2173_splice	c.e5+1	p.V725_splice	ASPM_ENST00000294732.7_Splice_Site_p.V725_splice|ASPM_ENST00000367408.1_5'UTR	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	725					mitosis	cytoplasm|nucleus	calmodulin binding	p.V725L(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAACGTTTACCTTCAGAAATA	0.269000													4	17					0.00909568	0.0092509	0.150653	1	0
SLIT3	6586	broad.mit.edu	37	5	168098448	168098448	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:168098448G>T	ENST00000519560.1	-	34	4301	c.3882C>A	c.(3880-3882)ggC>ggA	p.G1294G	SLIT3_ENST00000332966.8_Silent_p.G1301G|SLIT3_ENST00000404867.3_Silent_p.G1294G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1294	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.G1294G(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCGGTCCGTGCCCTGGCGCA	0.672000													20	9					1.64293e-13	1.97417e-13	0.654019	1	0
ASPA	443	broad.mit.edu	37	17	3385072	3385072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:3385072C>T	ENST00000263080.2	+	2	570	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Nonsense_Mutation_p.Q138*	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	138					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	p.Q138*(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	CTTTTTAATTCAGATGTTTCA	0.318000													10	16					0	0	0.387290	0	0
QPRT	23475	broad.mit.edu	37	16	29708623	29708623	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:29708623C>A	ENST00000395384.4	+	4	946	c.785C>A	c.(784-786)cCg>cAg	p.P262Q	QPRT_ENST00000562473.1_Missense_Mutation_p.P114Q|QPRT_ENST00000219771.7_3'UTR	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	262					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity	p.P262Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	TTCTGCGGGCCGCACATAGAC	0.632000													82	84					6.04451e-25	8.49653e-25	0.870114	1	0
LAX1	54900	broad.mit.edu	37	1	203743633	203743633	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:203743633G>T	ENST00000442561.2	+	5	1411	c.1021G>T	c.(1021-1023)Gct>Tct	p.A341S	LAX1_ENST00000367217.5_Missense_Mutation_p.A325S|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	341					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.A341S(2)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACATTCCTTGCTTCAGGGGA	0.468000													57	128					1.03172e-35	1.61818e-35	0.870114	1	0
GRIN3A	116443	broad.mit.edu	37	9	104335780	104335780	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr9:104335780G>T	ENST00000361820.3	-	9	3624	c.3024C>A	c.(3022-3024)ccC>ccA	p.P1008P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1008					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.P1008P(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TAAGCTGACGGGGTCCCACAT	0.448000													67	84					1.20869e-33	1.84713e-33	0.870114	1	0
SLC7A11	23657	broad.mit.edu	37	4	139100436	139100436	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:139100436C>A	ENST00000280612.5	-	11	1658	c.1379G>T	c.(1378-1380)gGa>gTa	p.G460V		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	460					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	p.G460V(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CGCAGGGACTCCAGTCAGAGT	0.423000													37	69					1.60099e-16	2.02158e-16	0.804634	1	0
DDX49	54555	broad.mit.edu	37	19	19033422	19033422	+	Silent	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:19033422C>T	ENST00000438170.2	+	7	736	c.324C>T	c.(322-324)acC>acT	p.T108T	DDX49_ENST00000247003.4_Silent_p.T215T|AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000599156.1_Intron			Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	215	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.T215T(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GGGTGAGCACCGTGGAGCAGC	0.637000													22	75					0	0	0.639603	0	0
ANKS1B	56899	broad.mit.edu	37	12	99837534	99837534	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:99837534T>G	ENST00000547776.2	-	11	1491	c.1492A>C	c.(1492-1494)Agc>Cgc	p.S498R	ANKS1B_ENST00000547010.1_Missense_Mutation_p.S78R|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S498R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	498						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.S498R(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCTGTTGAGCTGTTTCTATGG	0.438000													22	38					0	0	0.654019	0	0
PKD1L2	114780	broad.mit.edu	37	16	81187704	81187704	+	RNA	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:81187704G>C	ENST00000525539.1	-	0	4267				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.P1423R(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGGTGGTGGGGCTCTCTCTC	0.602000													9	16					0	0	0.307466	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227218999	227218999	+	Splice_Site	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:227218999C>G	ENST00000366769.3	-	27	4961	c.3670_splice	c.e27+1	p.D1224_splice	CDC42BPA_ENST00000366765.3_Splice_Site_p.D1237_splice|CDC42BPA_ENST00000535525.1_Splice_Site_p.D1204_splice|CDC42BPA_ENST00000366767.3_Splice_Site_p.D1143_splice|CDC42BPA_ENST00000366764.2_Splice_Site_p.D1196_splice|CDC42BPA_ENST00000366766.2_Splice_Site_p.D1259_splice|CDC42BPA_ENST00000334218.5_Splice_Site_p.D1224_splice	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1237					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.D1224H(2)|p.D1143H(2)|p.D1259H(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AAATTCATACCTATGATTGCG	0.388000													16	72					0	0	0.624587	0	0
MAST1	22983	broad.mit.edu	37	19	12951309	12951309	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:12951309A>T	ENST00000251472.4	+	2	172	c.133A>T	c.(133-135)Acg>Tcg	p.T45S	MAST1_ENST00000591495.1_Missense_Mutation_p.T41S	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	45					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.T45S(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CACTTCACCCACGCTACCGAG	0.662000													14	31					0	0	0.479597	0	0
MARCO	8685	broad.mit.edu	37	2	119727780	119727780	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:119727780T>A	ENST00000541757.1	+	4	436	c.56T>A	c.(55-57)cTg>cAg	p.L19Q	MARCO_ENST00000327097.4_Missense_Mutation_p.L97Q			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	97					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.L97Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TTCTCCTTGCTGCAGTCAGCA	0.617000													133	74					0	0	0.870114	0	0
RPGR	6103	broad.mit.edu	37	X	38145111	38145111	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:38145111T>C	ENST00000378505.2	-	15	3317	c.3141A>G	c.(3139-3141)gaA>gaG	p.E1047E	RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	836					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.E1047E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ccccctccttttccctttctt	0.537000													18	29					0	0	0.520397	0	0
TLR7	51284	broad.mit.edu	37	X	12905653	12905653	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:12905653A>T	ENST00000380659.3	+	3	2165	c.2026A>T	c.(2026-2028)Aat>Tat	p.N676Y		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	676					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	p.N676Y(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TATGCCTCCAAATCTAAAGAA	0.373000													6	306					0	0	0.278610	0	0
AKAP9	10142	broad.mit.edu	37	7	91667886	91667886	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:91667886A>G	ENST00000359028.2	+	18	4753	c.4528A>G	c.(4528-4530)Att>Gtt	p.I1510V	AKAP9_ENST00000356239.3_Missense_Mutation_p.I1498V|AKAP9_ENST00000358100.2_Missense_Mutation_p.I1510V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1510					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.I1510V(2)|p.I1498V(2)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGGATCAAATTGGTTTTCA	0.323000			T	BRAF	papillary thyroid								29	34					0	0	0.706142	0	0
NR0B1	190	broad.mit.edu	37	X	30327006	30327006	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:30327006C>A	ENST00000378970.4	-	1	709	c.475G>T	c.(475-477)Gct>Tct	p.A159S	NR0B1_ENST00000453287.1_Missense_Mutation_p.A159S	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	159	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	p.A159S(2)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCTGCCGGAGCCACGTGCGTT	0.677000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	43					1.96292e-10	2.2585e-10	0.592651	1	0
FAM71A	149647	broad.mit.edu	37	1	212799160	212799160	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:212799160G>T	ENST00000294829.3	+	1	1372	c.941G>T	c.(940-942)gGg>gTg	p.G314V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	314	Ala-rich.							p.G314V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GCCATAGCTGGGGCGGCCACC	0.642000													11	62					5.61819e-17	7.12434e-17	0.693898	1	0
OR14A16	284532	broad.mit.edu	37	1	247978341	247978341	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:247978341C>T	ENST00000357627.1	-	1	690	c.691G>A	c.(691-693)Ggc>Agc	p.G231S		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G231S(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTTGACTGGCCTTCTGTGGAA	0.413000													18	48					0	0	0.539581	0	0
POLE	5426	broad.mit.edu	37	12	133256576	133256576	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:133256576T>C	ENST00000320574.5	-	5	430	c.387A>G	c.(385-387)gcA>gcG	p.A129A	POLE_ENST00000535270.1_Silent_p.A102A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	129					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.A129A(4)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTCCACTTTTGCAATTTTGC	0.448000								DNA polymerases (catalytic subunits)					46	92					0	0	0.870114	0	0
OR2T2	401992	broad.mit.edu	37	1	248616138	248616138	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:248616138G>A	ENST00000342927.3	+	1	62	c.40G>A	c.(40-42)Gtc>Atc	p.V14I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V14S(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACTAACTTCGTCCTCACAGG	0.507000													39	199					0	0	0.870114	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357646	118357646	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:118357646C>T	ENST00000528052.1	+	8	853	c.782C>T	c.(781-783)tCt>tTt	p.S261F	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S261F|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S261F			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	261					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.S261F(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AATGCCCTGTCTCAGATCGTG	0.527000													26	41					0	0	0.654019	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239890	135239890	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:135239890G>A	ENST00000265605.2	-	7	1195	c.1127C>T	c.(1126-1128)aCg>aTg	p.T376M	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T322M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T326M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	376					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.T376M(4)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TGTTATCACCGTGGGAAGCAT	0.502000													46	225					0	0	0.864702	0	0
OR4C6	219432	broad.mit.edu	37	11	55433035	55433035	+	Silent	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:55433035G>C	ENST00000314259.3	+	1	422	c.393G>C	c.(391-393)acG>acC	p.T131T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T131T(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGCACTACACGATCATCATGA	0.512000													36	119					0	0	0.804634	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279140	51279140	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:51279140G>A	ENST00000551456.1	+	4	809	c.764G>A	c.(763-765)gGt>gAt	p.G255D	TMPRSS12_ENST00000398458.3_Missense_Mutation_p.G255D			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	255	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.G255D(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TTTTGTGCAGGTGATGAAGAT	0.363000													59	179					0	0	0.870114	0	0
OR56A1	120796	broad.mit.edu	37	11	6048560	6048560	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:6048560C>A	ENST00000316650.5	-	1	411	c.375G>T	c.(373-375)atG>atT	p.M125I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M125I(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTCATAGGCCATGACCATAA	0.502000													41	94					9.73076e-26	1.3743e-25	0.827153	1	0
GHRHR	2692	broad.mit.edu	37	7	31013682	31013682	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:31013682T>A	ENST00000409904.3	+	4	746	c.488T>A	c.(487-489)cTg>cAg	p.L163Q	GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Missense_Mutation_p.L227Q|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	227					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.L227Q(2)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GCCGTCTACCTGAACTGCCTC	0.632000													83	230					0	0	0.870114	0	0
FLT3LG	2323	broad.mit.edu	37	19	49983708	49983708	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:49983708G>A	ENST00000595510.1	+	6	690	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	FLT3LG_ENST00000594009.1_Missense_Mutation_p.R212Q|FLT3LG_ENST00000204637.2_Missense_Mutation_p.R130Q|FLT3LG_ENST00000597551.1_Missense_Mutation_p.R212Q|FLT3LG_ENST00000600429.1_Missense_Mutation_p.R212Q|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000596435.1_Missense_Mutation_p.R194Q|CTD-3148I10.9_ENST00000599536.1_Intron			P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	212					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	p.R212Q(1)		large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		AGGACGCGGCGGAGGACACCC	0.721000													4	10					0	0	0.150653	0	0
GPR64	10149	broad.mit.edu	37	X	19028759	19028759	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:19028759G>T	ENST00000354791.3	-	16	1430	c.1189C>A	c.(1189-1191)Cct>Act	p.P397T	GPR64_ENST00000357991.3_Missense_Mutation_p.P410T|GPR64_ENST00000356606.4_Missense_Mutation_p.P399T|GPR64_ENST00000379873.2_Missense_Mutation_p.P413T|GPR64_ENST00000379878.3_Missense_Mutation_p.P397T|GPR64_ENST00000357544.3_Missense_Mutation_p.P383T|GPR64_ENST00000340581.3_Missense_Mutation_p.P383T|GPR64_ENST00000360279.4_Missense_Mutation_p.P391T|GPR64_ENST00000379869.3_Missense_Mutation_p.P413T|GPR64_ENST00000379876.1_Missense_Mutation_p.P389T			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	413					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	p.P410T(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGCATGTCAGGCGGGGAATGA	0.527000													136	293					6.5159e-73	1.12892e-72	0.870114	1	0
NKX6-1	4825	broad.mit.edu	37	4	85414499	85414499	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:85414499G>C	ENST00000295886.4	-	3	1268	c.1047C>G	c.(1045-1047)agC>agG	p.S349R	NKX6-1_ENST00000515820.2_Missense_Mutation_p.S75R	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	349	Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		p.S349R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		CGCCGCCGCTGCTGGACTTGT	0.652000													28	84					0	0	0.779181	0	0
OLFML2B	25903	broad.mit.edu	37	1	161976113	161976113	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:161976113C>A	ENST00000294794.3	-	4	1120	c.697G>T	c.(697-699)Gca>Tca	p.A233S	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A233S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	233	Poly-Ala.							p.A233S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTGCTGCTGCATCCCTCTGC	0.527000													88	220					2.5264e-35	3.92119e-35	0.870114	1	0
LINC00842	643650	broad.mit.edu	37	10	47133423	47133423	+	RNA	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:47133423T>A	ENST00000422732.2	-	0	435					NR_033957.1																						TAGGCCTCCATTGCCACAGGG	0.453000													41	248					0	0	0.870114	0	0
MAST1	22983	broad.mit.edu	37	19	12976793	12976793	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:12976793G>T	ENST00000251472.4	+	17	1945		c.e17-1			NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1						cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.?(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TTCCGTCCCAGGCGGCGCTTT	0.652000													13	54					3.27435e-08	3.60058e-08	0.457914	1	0
TPTE2P6	374491	broad.mit.edu	37	13	25144805	25144805	+	RNA	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr13:25144805C>A	ENST00000453498.1	+	0	346																											GGGTCCTGGTCCTGCCATGGG	0.463000													13	61					2.31682e-05	2.43962e-05	0.479597	1	0
KAT2B	8850	broad.mit.edu	37	3	20167606	20167606	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:20167606G>T	ENST00000263754.4	+	10	2077		c.e10+1			NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B						cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TCTTTGACCCGTAAGTGGTAC	0.448000													8	21					5.18039e-06	5.51342e-06	0.278610	1	0
GPR142	350383	broad.mit.edu	37	17	72368476	72368476	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:72368476G>C	ENST00000335666.4	+	4	1174	c.1126G>C	c.(1126-1128)Gtc>Ctc	p.V376L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	376						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.V376L(2)|p.V376I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCGGGTCTTCGTCATGCTCTA	0.662000													110	228					0	0	0.870114	0	0
XPO5	57510	broad.mit.edu	37	6	43516038	43516038	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:43516038C>A	ENST00000265351.7	-	18	2230	c.2020G>T	c.(2020-2022)Gca>Tca	p.A674S		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	674					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GCCACTGGTGCCATCAGCTCC	0.483000													19	298					5.35267e-07	5.73775e-07	0.557998	1	0
PMPCB	9512	broad.mit.edu	37	7	102937953	102937953	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:102937953G>T	ENST00000249269.4	+	1	85	c.47G>T	c.(46-48)cGg>cTg	p.R16L	PMPCB_ENST00000420236.2_5'UTR|PMPCB_ENST00000428154.1_Missense_Mutation_p.R16L	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	16				RR -> GG (in Ref. 1; AAC39915).	proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	p.R16L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCGGCGCGGCGGCGGCTCTGG	0.652000											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	46					1.75199e-13	2.09675e-13	0.717897	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102508881	102508881	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:102508881A>G	ENST00000321521.9	+	20	2882	c.2309A>G	c.(2308-2310)gAa>gGa	p.E770G	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.E770G|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.E770G			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	770					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.E770G(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTAAAGCTGAAAAACTGGAG	0.338000													13	8					0	0	0.435327	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686420	108686420	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:108686420A>G	ENST00000397688.2	-	3	683	c.314T>C	c.(313-315)tTc>tCc	p.F105S	CMKLR1_ENST00000412676.1_Missense_Mutation_p.F107S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.F107S|CMKLR1_ENST00000552995.1_Missense_Mutation_p.F105S|CMKLR1_ENST00000312143.7_Missense_Mutation_p.F107S	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	107					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.F105S(2)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGCTGTCCCGAAAACCCAGTG	0.517000													50	123					0	0	0.870114	0	0
CDH12	1010	broad.mit.edu	37	5	21842294	21842294	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:21842294C>A	ENST00000382254.1	-	8	1876	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.D264Y|CDH12_ENST00000522262.1_Missense_Mutation_p.D224Y	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	264	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D264Y(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGTGGATTGTCATTGACATCG	0.403000										HNSCC(59;0.17)			39	147					1.47244e-24	2.06004e-24	0.819951	1	0
PDGFRA	5156	broad.mit.edu	37	4	55129867	55129867	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:55129867C>T	ENST00000257290.5	+	4	732	c.401C>T	c.(400-402)aCg>aTg	p.T134M	PDGFRA_ENST00000508170.1_Missense_Mutation_p.T134M|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	134	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.T134M(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTAGGAATGACGGATTATTTA	0.408000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			47	102					0	0	0.870114	0	0
OR5H14	403273	broad.mit.edu	37	3	97868644	97868644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:97868644G>T	ENST00000437310.1	+	1	475	c.415G>T	c.(415-417)Gga>Tga	p.G139*		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G139*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATGACCAATGGACTGTGCAT	0.393000													65	103					1.21457e-23	1.67566e-23	0.870114	1	0
RYR2	6262	broad.mit.edu	37	1	237947310	237947310	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:237947310G>A	ENST00000366574.2	+	90	12615	c.12298G>A	c.(12298-12300)Gtc>Atc	p.V4100I	RYR2_ENST00000542537.1_Missense_Mutation_p.V4084I|RYR2_ENST00000360064.6_Missense_Mutation_p.V4106I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4100					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V4098I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACGTCGCCGTCCTTCTGAC	0.502000													5	52					0	0	0.184627	0	0
KRT32	3882	broad.mit.edu	37	17	39620561	39620561	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:39620561C>A	ENST00000225899.3	-	4	946	c.843G>T	c.(841-843)agG>agT	p.R281S		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	281	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.R281S(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCTCCACGTCCCTGCGGTTGG	0.617000													55	119					9.53978e-28	1.38676e-27	0.870114	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140719811	140719811	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:140719811A>G	ENST00000394576.2	+	1	1273	c.1273A>G	c.(1273-1275)Aaa>Gaa	p.K425E	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.K425E(4)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAACCGCTAAAGATGGAGG	0.488000													52	128					0	0	0.870114	0	0
NUTM1	256646	broad.mit.edu	37	15	34648810	34648810	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr15:34648810T>C	ENST00000537011.1	+	8	2983	c.2601T>C	c.(2599-2601)ggT>ggC	p.G867G	NUTM1_ENST00000438749.3_Silent_p.G857G|NUTM1_ENST00000333756.4_Silent_p.G839G					NUT midline carcinoma, family member 1									p.G839G(2)									GGGCAGAAGGTTGCTTCCCAT	0.522000													15	103					0	0	0.500413	0	0
NEU3	10825	broad.mit.edu	37	11	74716538	74716538	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:74716538G>A	ENST00000532963.1	+	2	302	c.175G>A	c.(175-177)Gag>Aag	p.E59K	NEU3_ENST00000531509.1_Silent_p.K129K|NEU3_ENST00000294064.4_Silent_p.K129K|NEU3_ENST00000529024.1_Missense_Mutation_p.E59K|NEU3_ENST00000545272.1_Silent_p.K20K|NEU3_ENST00000544263.1_Silent_p.K96K			A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	0								p.K129K(4)		kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GGGAGCAGAAGAGTGGTTGTG	0.562000													31	55					0	0	0.740014	0	0
FAT3	120114	broad.mit.edu	37	11	92531939	92531939	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:92531939C>G	ENST00000298047.6	+	9	5777	c.5760C>G	c.(5758-5760)taC>taG	p.Y1920*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y1770*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y1920*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1920	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.Y1920*(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACTGACATACAGCCTAATGG	0.418000										TCGA Ovarian(4;0.039)			23	50					0	0	0.608945	0	0
ABCA5	23461	broad.mit.edu	37	17	67300882	67300882	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:67300882T>C	ENST00000392676.3	-	7	922	c.858A>G	c.(856-858)acA>acG	p.T286T	ABCA5_ENST00000588877.1_Silent_p.T286T|ABCA5_ENST00000392677.2_Silent_p.T286T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	286					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.T286T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ACAAAGAAGCTGTCGCAATGA	0.323000													18	45					0	0	0.575678	0	0
RHEBL1	121268	broad.mit.edu	37	12	49463563	49463563	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:49463563C>A	ENST00000301068.6	-	1	245	c.6G>T	c.(4-6)ccG>ccT	p.P2P		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	2					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding	p.P2P(2)		breast(2)|large_intestine(2)|lung(5)	9						AGCGGACTAGCGGCATGGCAG	0.647000													23	42					4.4004e-07	4.75116e-07	0.654019	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254445	30254445	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:30254445C>A	ENST00000361644.2	+	5	1141	c.404C>A	c.(403-405)gCa>gAa	p.A135E	MAGEB3_ENST00000378986.1_Missense_Mutation_p.A135E	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	135	MAGE.							p.A135E(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						ATTATGAAAGCAGATATGCTA	0.383000													38	103					6.1244e-12	7.21372e-12	0.834066	1	0
EMR1	2015	broad.mit.edu	37	19	6935052	6935052	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:6935052A>T	ENST00000312053.4	+	18	2381	c.2344A>T	c.(2344-2346)Agt>Tgt	p.S782C	EMR1_ENST00000381407.5_Missense_Mutation_p.S641C|EMR1_ENST00000450315.3_Missense_Mutation_p.S605C|EMR1_ENST00000250572.8_Missense_Mutation_p.S717C|EMR1_ENST00000381404.4_Missense_Mutation_p.S763C	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	782					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S782C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAGGCTTTCCAGTGTTAATGC	0.468000													47	173					0	0	0.870114	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69034512	69034512	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:69034512G>T	ENST00000295381.3	+	5	990	c.571G>T	c.(571-573)Ggc>Tgc	p.G191C	ARHGAP25_ENST00000544262.1_Missense_Mutation_p.G166C|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.G152C|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.G192C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.G184C|ARHGAP25_ENST00000456116.2_3'UTR	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	191	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.G185C(2)|p.G192C(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCTGGAGCACGGCCGGAATGA	0.582000													54	136					1.59911e-31	2.38268e-31	0.870114	1	0
RMND5A	64795	broad.mit.edu	37	2	86997154	86997154	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:86997154C>G	ENST00000283632.4	+	7	1358	c.863C>G	c.(862-864)gCa>gGa	p.A288G	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	288								p.A288G(2)		kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						AGTTTCTCAGCAGGTTGTGTG	0.502000													151	313					0	0	0.870114	0	0
KLHL34	257240	broad.mit.edu	37	X	21674559	21674559	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:21674559G>A	ENST00000379499.2	-	1	1889	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	450								p.R450W(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CAGCGGTCCCGACGCAGGTCG	0.741000													7	3					0	0	0.278610	0	0
ALS2	57679	broad.mit.edu	37	2	202593271	202593271	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:202593271C>A	ENST00000264276.6	-	15	3177	c.2805G>T	c.(2803-2805)tgG>tgT	p.W935C	ALS2_ENST00000457679.2_Missense_Mutation_p.W247C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	935	PH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	p.W935C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGAGAATGAACCAATTCACGG	0.483000													171	121					4.34395e-57	7.39713e-57	0.870114	1	0
CPS1	1373	broad.mit.edu	37	2	211473091	211473091	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:211473091A>G	ENST00000233072.5	+	19	2395	c.2199A>G	c.(2197-2199)ccA>ccG	p.P733P	CPS1_ENST00000451903.2_Silent_p.P282P|CPS1_ENST00000430249.2_Silent_p.P739P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	733	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.P739P(2)|p.P733P(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATAGCTACCCATTGGCATTCA	0.363000													64	37					0	0	0.870114	0	0
OR51M1	390059	broad.mit.edu	37	11	5411400	5411400	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:5411400T>A	ENST00000328611.3	+	1	794	c.772T>A	c.(772-774)Tgt>Agt	p.C258S	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	258						integral to membrane	olfactory receptor activity	p.C258S(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGCTCCTCTCTGTGCTGTGCT	0.562000													22	125					0	0	0.870114	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711455	195711455	+	RNA	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:195711455C>A	ENST00000427841.1	-	0	492					NR_003264.2																						CAGAGCCTCCCGCCCATCACC	0.567000													8	94					1.02788e-11	1.19187e-11	0.520397	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011313	105011313	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:105011313G>A	ENST00000372582.1	+	11	2476	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E574K|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.E179K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	574					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.E574K(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGACTCCGCAGAACAAGGACT	0.438000													42	105					0	0	0.819951	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701585	23701585	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr9:23701585C>A	ENST00000397312.2	-	5	779	c.505G>T	c.(505-507)Ggg>Tgg	p.G169W	ELAVL2_ENST00000544538.1_Missense_Mutation_p.G169W|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G198W|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G169W|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G169W	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	169	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.G169W(2)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CGAATAAACCCTACACCCCTT	0.433000													41	55					6.33695e-27	9.16704e-27	0.834066	1	0
MUC17	140453	broad.mit.edu	37	7	100681561	100681561	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:100681561C>G	ENST00000306151.4	+	3	6928	c.6864C>G	c.(6862-6864)caC>caG	p.H2288Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2288	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.H2288Q(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTCAGCCACACGCTGGTGG	0.478000													132	260					0	0	0.870114	0	0
NRK	203447	broad.mit.edu	37	X	105132286	105132286	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:105132286G>T	ENST00000428173.2	+	5	555		c.e5-1		NRK_ENST00000243300.9_Splice_Site|NRK_ENST00000536164.1_Splice_Site			Q7Z2Y5	NRK_HUMAN	Nik related kinase								ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.?(4)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTATTCCATAGGATGAGGAAG	0.398000										HNSCC(51;0.14)			5	19					3.59834e-05	3.77572e-05	0.217242	1	0
KRT85	3891	broad.mit.edu	37	12	52761049	52761049	+	Silent	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:52761049C>T	ENST00000257901.3	-	1	216	c.141G>A	c.(139-141)ggG>ggA	p.G47G		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	47	Head.				epidermis development	keratin filament	protein binding|structural molecule activity	p.G47G(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCGTCAGCCCTCGGTAGC	0.682000													14	35					0	0	0.639603	0	0
TEKT1	83659	broad.mit.edu	37	17	6704149	6704149	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:6704149G>T	ENST00000338694.2	-	7	1095	c.966C>A	c.(964-966)caC>caA	p.H322Q	TEKT1_ENST00000535086.1_Missense_Mutation_p.H176Q	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	322					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.H322_R323>QG(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CGTTCGGCCGGTGTGTCCTGG	0.522000											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	115	187					6.10253e-70	1.05119e-69	0.870114	1	0
IHH	3549	broad.mit.edu	37	2	219920175	219920175	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:219920175G>A	ENST00000295731.5	-	3	989	c.990C>T	c.(988-990)gcC>gcT	p.A330A		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	330					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	p.A330A(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGAGCGGGGCGTAGGCCC	0.682000													60	38					0	0	0.870114	0	0
NLN	57486	broad.mit.edu	37	5	65077169	65077169	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:65077169A>G	ENST00000380985.5	+	6	921	c.743A>G	c.(742-744)tAt>tGt	p.Y248C	NLN_ENST00000502464.1_Missense_Mutation_p.Y144C	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	248					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	p.Y248C(2)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TATCCACACTATTTCCCTGTC	0.328000													48	45					0	0	0.870114	0	0
FAM129C	199786	broad.mit.edu	37	19	17643134	17643134	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:17643134G>T	ENST00000335393.4	+	4	480	c.342G>T	c.(340-342)cgG>cgT	p.R114R	FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000300971.2_Silent_p.R114R|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000599124.1_Silent_p.R83R|FAM129C_ENST00000332386.5_Silent_p.R114R|FAM129C_ENST00000601861.1_Silent_p.R83R|FAM129C_ENST00000352727.3_Silent_p.R114R|FAM129C_ENST00000600871.1_Silent_p.R60R|FAM129C_ENST00000599164.1_Silent_p.R83R|FAM129C_ENST00000595684.1_Silent_p.R114R	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	114								p.R114R(4)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						ACCCACCCCGGTGGCAGCCGA	0.647000													29	112					1.57351e-24	2.19116e-24	0.788014	1	0
GRAMD1A	57655	broad.mit.edu	37	19	35500129	35500129	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:35500129A>G	ENST00000599564.1	+	3	447	c.376A>G	c.(376-378)Acc>Gcc	p.T126A	GRAMD1A_ENST00000317991.5_Missense_Mutation_p.T39A|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.T39A|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.T39A			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	39	GRAM.					integral to membrane		p.T39A(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAACCAGGCACCATGGTGGA	0.662000													58	40					0	0	0.870114	0	0
OR52A1	23538	broad.mit.edu	37	11	5173255	5173255	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:5173255G>A	ENST00000380367.1	-	2	762	c.345C>T	c.(343-345)ggC>ggT	p.G115G	OR52A1_ENST00000328942.1_Silent_p.G115G			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	115					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.G115G(2)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAAGGATGCCTGACTCTA	0.448000													13	33					0	0	0.411799	0	0
IP6K2	51447	broad.mit.edu	37	3	48726111	48726111	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:48726111G>A	ENST00000328631.5	-	6	1099	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	292					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.F292F(4)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CATTGTGGAAGAACTGGAAAA	0.562000													33	181					0	0	0.750413	0	0
SZT2	23334	broad.mit.edu	37	1	43907004	43907004	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:43907004T>C	ENST00000562955.1	+	52	7293	c.7293T>C	c.(7291-7293)ggT>ggC	p.G2431G	SZT2_ENST00000372442.1_Silent_p.G1589G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2488						peroxisome		p.G1589G(4)|p.G2431G(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGACTCCTGGTGGAGCTGAGC	0.572000													195	102					0	0	0.870114	0	0
OCA2	4948	broad.mit.edu	37	15	28326973	28326973	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr15:28326973C>A	ENST00000354638.3	-	2	203	c.48G>T	c.(46-48)gcG>gcT	p.A16A	OCA2_ENST00000382996.2_Silent_p.A16A|OCA2_ENST00000353809.5_Silent_p.A16A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	16					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.A16A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGAGCTCCACCGCCGGCGCGC	0.662000									Oculocutaneous Albinism				20	18					3.51602e-12	4.15783e-12	0.575678	1	0
POLR3C	10623	broad.mit.edu	37	1	145608466	145608466	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:145608466C>T	ENST00000334163.3	-	3	501	c.341G>A	c.(340-342)gGc>gAc	p.G114D	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.G114D	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	114					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TGTCAGTTTGCCGTTCAACAG	0.463000													5	203					0	0	0.217242	0	0
CXorf61	203413	broad.mit.edu	37	X	115593061	115593061	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:115593061A>G	ENST00000371894.4	-	2	335	c.189T>C	c.(187-189)tcT>tcC	p.S63S		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	63						integral to membrane|plasma membrane		p.S63S(3)		breast(1)|large_intestine(3)|lung(8)	12						AAATATCCCGAGAGAGGTCGT	0.403000													85	167					0	0	0.870114	0	0
LILRA6	79168	broad.mit.edu	37	19	54742922	54742922	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:54742922C>A	ENST00000396365.2	-	8	1392	c.1353G>T	c.(1351-1353)atG>atT	p.M451I	LILRA6_ENST00000245621.5_Missense_Mutation_p.M434I|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron	NM_024318.2	NP_077294.2			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.M451I(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGCCATGCCCATGCGGATGA	0.577000													26	40					2.04263e-09	2.3057e-09	0.796494	1	0
ZNF766	90321	broad.mit.edu	37	19	52780771	52780771	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:52780771G>A	ENST00000593612.1	+	2	417	c.40G>A	c.(40-42)Gag>Aag	p.E14K	ZNF766_ENST00000359102.4_Missense_Mutation_p.E14K|ZNF766_ENST00000599581.1_Intron|ZNF766_ENST00000439461.1_Intron|ZNF766_ENST00000600821.1_Intron			Q5HY98	ZN766_HUMAN	zinc finger protein 766	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GAAAGCAGAGGAGTCAGGCAT	0.448000													4	9					0	0	0.150653	0	0
WRAP53	55135	broad.mit.edu	37	17	7592605	7592605	+	Silent	SNP	C	C	T	rs147817526		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:7592605C>T	ENST00000316024.5	+	2	2843	c.495C>T	c.(493-495)agC>agT	p.S165S	WRAP53_ENST00000457584.2_Silent_p.S165S|WRAP53_ENST00000431639.2_Silent_p.S165S|WRAP53_ENST00000396463.2_Silent_p.S165S|WRAP53_ENST00000534050.1_Intron			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	165					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	p.S165S(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CAGAGTTCAGCACCCAACCTG	0.517000													54	66					0	0	0.870114	0	0
TMEM130	222865	broad.mit.edu	37	7	98449098	98449098	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:98449098C>T	ENST00000450876.1	-	6	2015	c.700G>A	c.(700-702)Gag>Aag	p.E234K	TMEM130_ENST00000546258.1_Missense_Mutation_p.E299K|TMEM130_ENST00000339375.4_Missense_Mutation_p.E318K|TMEM130_ENST00000416379.2_Missense_Mutation_p.E318K|TMEM130_ENST00000345589.4_Missense_Mutation_p.E216K			Q8N3G9	TM130_HUMAN	transmembrane protein 130	318						Golgi membrane|integral to membrane		p.E318K(2)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGATATTCTCGGCCCGGATG	0.592000													64	110					0	0	0.870114	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1969835	1969835	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:1969835G>T	ENST00000255641.8	+	2	559	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	22					sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity	p.G22C(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		GTCCAAGGCCGGCGGGGGCCG	0.642000													5	11					0.000602214	0.000623125	0.184627	1	0
CACNA1E	777	broad.mit.edu	37	1	181480554	181480554	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:181480554G>A	ENST00000526775.1	+	3	585	c.420G>A	c.(418-420)ggG>ggA	p.G140G	CACNA1E_ENST00000360108.3_Silent_p.G140G|CACNA1E_ENST00000358338.5_Silent_p.G91G|CACNA1E_ENST00000367570.1_Silent_p.G140G|CACNA1E_ENST00000357570.5_Silent_p.G91G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Silent_p.G140G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	140					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G140G(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGAAGCTGGGATCAAAATTG	0.493000													174	384					0	0	0.870114	0	0
MYO3B	140469	broad.mit.edu	37	2	171257993	171257993	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:171257993G>T	ENST00000334231.6	+	18	1948	c.1948G>T	c.(1948-1950)Gcc>Tcc	p.A650S	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.A641S|MYO3B_ENST00000408978.4_Missense_Mutation_p.A641S			Q8WXR4	MYO3B_HUMAN	myosin IIIB	641	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.A641S(4)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGTTTCAGCTGCCTCTGTTCT	0.502000													56	38					4.32865e-36	6.82507e-36	0.870114	1	0
TNR	7143	broad.mit.edu	37	1	175331945	175331945	+	Splice_Site	SNP	A	A	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:175331945A>C	ENST00000367674.1	-	14	3416	c.2707_splice	c.e14-1	p.V903_splice	TNR_ENST00000263525.2_Splice_Site_p.V903_splice	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	903	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.V903G(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TAGTCGTCCCACTGGAGAAGA	0.488000													53	137					0	0	0.870114	0	0
TPTE	7179	broad.mit.edu	37	21	10910395	10910395	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr21:10910395A>T	ENST00000298232.7	-	21	1674	c.1307T>A	c.(1306-1308)cTt>cAt	p.L436H	TPTE_ENST00000342420.5_Missense_Mutation_p.L416H|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.L454H	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	454	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L436H(2)|p.L454H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATGTTATCAAGTACCTATGA	0.323000													26	106					0	0	0.654019	0	0
TP53	7157	broad.mit.edu	37	17	7578469	7578469	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:7578469C>A	ENST00000420246.2	-	5	593	c.461G>T	c.(460-462)gGc>gTc	p.G154V	TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V|TP53_ENST00000269305.4_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	154	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACGCGGGTGCCGGGCGGGGG	0.607000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			45	64					1.47857e-17	1.8992e-17	0.870114	1	0
NRK	203447	broad.mit.edu	37	X	105189911	105189911	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:105189911T>C	ENST00000428173.2	+	25	4413	c.4110T>C	c.(4108-4110)taT>taC	p.Y1370Y	NRK_ENST00000243300.9_Silent_p.Y1369Y			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1369	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Y1369Y(2)|p.Y1370Y(2)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACATGTCCTATCAAGCCTATA	0.438000										HNSCC(51;0.14)			5	33					0	0	0.278610	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925554	54925554	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:54925554C>A	ENST00000293373.6	+	25	2805	c.2726C>A	c.(2725-2727)aCc>aAc	p.T909N	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.T859N	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	909					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.T909N(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AAGCGCATGACCATCATTGGG	0.493000													36	141					5.43694e-19	7.0269e-19	0.812448	1	0
ZNF611	81856	broad.mit.edu	37	19	53208559	53208559	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:53208559G>C	ENST00000543227.1	-	6	2023	c.1749C>G	c.(1747-1749)tgC>tgG	p.C583W	ZNF611_ENST00000453741.2_Missense_Mutation_p.C514W|ZNF611_ENST00000595798.1_Missense_Mutation_p.C514W|ZNF611_ENST00000602162.1_Missense_Mutation_p.C514W|ZNF611_ENST00000319783.1_Missense_Mutation_p.C583W|ZNF611_ENST00000540744.1_Missense_Mutation_p.C583W	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C583W(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CTCTATGATGGCATACAAGGT	0.423000													193	206					0	0	0.870114	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49032419	49032419	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:49032419C>A	ENST00000376317.3	-	9	1545	c.1451G>T	c.(1450-1452)gGa>gTa	p.G484V	PRICKLE3_ENST00000536904.1_Missense_Mutation_p.G403V|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.G320V|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.G416V	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	484				Missing (in Ref. 5; AAB92357).			protein binding|zinc ion binding	p.G484V(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						GCGCGGGCCTCCTTCAGACAC	0.701000													16	25					1.02788e-11	1.19187e-11	0.520397	1	0
KIAA1109	84162	broad.mit.edu	37	4	123229169	123229169	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:123229169C>A	ENST00000264501.4	+	58	10280	c.9907C>A	c.(9907-9909)Cat>Aat	p.H3303N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.H3303N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.H3303N			Q2LD37	K1109_HUMAN	KIAA1109	3303					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.H3303N(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATGGCTTTACATAAGGATAT	0.413000													167	366					7.12906e-66	1.06339e-65	1	1	0
ADCK2	90956	broad.mit.edu	37	7	140380905	140380905	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:140380905G>C	ENST00000072869.4	+	4	1451	c.1273G>C	c.(1273-1275)Gca>Cca	p.A425P	ADCK2_ENST00000476491.1_Missense_Mutation_p.A425P	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	425	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity	p.A425P(2)		cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AAGGAAGATTGCACGGCTGGG	0.567000													12	44					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154158393	154158393	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:154158393G>T	ENST00000360256.4	-	14	3872	c.3672C>A	c.(3670-3672)atC>atA	p.I1224I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1224	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.I1224I(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATTCTCTTGGATTAATGTTT	0.313000													59	143					4.96213e-28	6.49456e-28	1	1	0
NTRK1	4914	broad.mit.edu	37	1	156845459	156845459	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:156845459G>T	ENST00000368196.3	+	11	1603		c.e11+1		NTRK1_ENST00000524377.1_Splice_Site|NTRK1_ENST00000358660.3_Splice_Site|NTRK1_ENST00000392302.2_Splice_Site	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1						activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.?(4)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	AGTGATGCCTGTGAGGGGCTA	0.577000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			25	39					4.87955e-14	5.68926e-14	1	1	0
CFAP54	144535	broad.mit.edu	37	12	97051666	97051666	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:97051666G>C	ENST00000524981.3	+	4	460	c.460G>C	c.(460-462)Gaa>Caa	p.E154Q				Q6ZTY8	CL063_HUMAN		128								p.E128Q(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						GCAGCCTATTGAAGACAAAGG	0.323000													15	490					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134261164	134261164	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:134261164C>A	ENST00000457545.2	+	9	1067	c.807C>A	c.(805-807)caC>caA	p.H269Q	AKR1B15_ENST00000423958.1_Missense_Mutation_p.H241Q	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	269							oxidoreductase activity	p.H269Q(2)|p.H241Q(2)|p.H287Q(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTGCAAAGCACAAAAAAACCA	0.443000													9	71					0.010729	0.01081	1	1	0
C3orf27	23434	broad.mit.edu	37	3	128292256	128292256	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:128292256T>C	ENST00000356020.2	-	3	1283	c.317A>G	c.(316-318)cAc>cGc	p.H106R		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	106								p.H106R(2)		large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		AGGCCCACAGTGGCACAGCAG	0.577000													35	68					0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64695897	64695897	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:64695897G>T	ENST00000164133.2	+	6	1344	c.722_splice	c.e6+1	p.R241_splice		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	241					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R241L(2)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						ATCTTCCTCCGGTGAGTGGCT	0.607000													18	58					5.35356e-11	6.00588e-11	1	1	0
FAT3	120114	broad.mit.edu	37	11	92623916	92623916	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:92623916C>A	ENST00000298047.6	+	27	13424	c.13407C>A	c.(13405-13407)tcC>tcA	p.S4469S	FAT3_ENST00000409404.2_Silent_p.S4437S|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Silent_p.S772S|FAT3_ENST00000525166.1_Silent_p.S4319S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4469	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S1044S(2)|p.S4437S(2)|p.S4469S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCCACCCTCCCAGCCTGTCT	0.592000										TCGA Ovarian(4;0.039)			10	16					5.50884e-06	5.81367e-06	1	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361828	105361828	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:105361828C>G	ENST00000369774.4	-	15	3423	c.3147G>C	c.(3145-3147)caG>caC	p.Q1049H	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.Q1021H|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.Q916H|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.Q884H|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1049					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	p.Q1021H(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TGCTGTTGCGCTGGGCGGGCA	0.622000													35	50					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394679	64394679	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:64394679T>C	ENST00000262043.3	+	4	1396	c.1056T>C	c.(1054-1056)aaT>aaC	p.N352N	PHF3_ENST00000509330.1_Silent_p.N352N|PHF3_ENST00000393387.1_Silent_p.N352N			Q92576	PHF3_HUMAN	PHD finger protein 3	352					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.N352N(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTTGTACAAATCCAAATAAGA	0.373000													8	174					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110496262	110496262	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:110496262A>G	ENST00000324068.1	-	4	647	c.480T>C	c.(478-480)aaT>aaC	p.N160N	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	160	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.N160N(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCAGCAGAGCATTCCAAAACT	0.428000													138	291					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81049602	81049602	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:81049602G>A	ENST00000334512.5	+	9	1068	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	166					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	p.V166M(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTCCCTTTCCGTGGTCACCAC	0.577000													11	128					0	0	1	0	0
NUP43	348995	broad.mit.edu	37	6	150057694	150057694	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:150057694T>C	ENST00000340413.2	-	6	779	c.703A>G	c.(703-705)Act>Gct	p.T235A	NUP43_ENST00000460354.2_Missense_Mutation_p.T235A|NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Intron	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	235					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	p.T235A(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)		TGGCCACCAGTAGCTACAACA	0.438000													33	99					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50092041	50092041	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr20:50092041T>C	ENST00000371564.3	-	4	1708	c.1489A>G	c.(1489-1491)Aaa>Gaa	p.K497E	NFATC2_ENST00000414705.1_Missense_Mutation_p.K477E|NFATC2_ENST00000396009.3_Missense_Mutation_p.K497E	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	497	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.K497E(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCCAGGACTTTGGTGTTGCCC	0.572000													114	109					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011313	105011313	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:105011313G>A	ENST00000372582.1	+	11	2476	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E574K|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.E179K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	574					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.E574K(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGACTCCGCAGAACAAGGACT	0.438000													92	162					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112018498	112018498	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr9:112018498C>A	ENST00000374566.3	-	9	1364	c.847G>T	c.(847-849)Gat>Tat	p.D283Y	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.D283Y	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	283	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.D283Y(4)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCACAGCCATCTCTTCCCTAC	0.398000													99	110					9.53166e-59	1.40605e-58	1	1	0
AGMO	392636	broad.mit.edu	37	7	15601381	15601381	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:15601381G>C	ENST00000342526.3	-	1	259	c.90C>G	c.(88-90)ttC>ttG	p.F30L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	30					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.F30L(2)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CTAATGTTTGGAATGAAGTTT	0.403000													104	188					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811180	5811180	+	Missense_Mutation	SNP	C	C	G	rs4017999		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:5811180C>G	ENST00000381095.3	-	6	2756	c.2129G>C	c.(2128-2130)cGc>cCc	p.R710P	NLGN4X_ENST00000275857.6_Missense_Mutation_p.R710P|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R710P|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R730P|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R710P	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	710					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.R710P(2)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGGACTGGGGCGCCTGTGAGT	0.532000													45	62					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104709469	104709469	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr8:104709469G>C	ENST00000406091.3	+	2	332	c.332G>C	c.(331-333)tGc>tCc	p.C111S		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	142	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.C111S(2)|p.C147S(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTCATATTGCCAAACAAAG	0.423000										HNSCC(12;0.0054)			317	1133					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899874	151899874	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:151899874A>G	ENST00000393900.3	-	3	1280	c.927T>C	c.(925-927)ttT>ttC	p.F309F	MAGEA12_ENST00000357916.4_Silent_p.F309F|MAGEA12_ENST00000393869.3_Silent_p.F309F|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	309								p.F309F(2)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCTCTCTAAAAGCCCATT	0.557000													185	372					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72038818	72038818	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:72038818T>A	ENST00000378743.3	-	4	1476	c.1118A>T	c.(1117-1119)cAg>cTg	p.Q373L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	373					RNA processing	intracellular	metal ion binding	p.Q373L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAGGCGAAGCTGTAATTCAGA	0.333000													19	49					0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785501	134785501	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:134785501G>T	ENST00000537858.1	-	2	329	c.129C>A	c.(127-129)gaC>gaA	p.D43E		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	43	FHA.							p.D43E(2)		breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGGTGGGCGTCCTGCCCCC	0.657000													14	8					8.04996e-18	9.81433e-18	1	1	0
PSG8	440533	broad.mit.edu	37	19	43359723	43359723	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:43359723C>A	ENST00000401467.2	-	1	120	c.49G>T	c.(49-51)Ggg>Tgg	p.G17W	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	17						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGCAGGACCCCCTTCCATTTG	0.572000													104	85					9.88213e-40	1.39605e-39	1	1	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													3	16					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1427297	1427297	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:1427297C>A	ENST00000446702.2	+	20	3147	c.2520C>A	c.(2518-2520)gtC>gtA	p.V840V	CNTN6_ENST00000539053.1_Silent_p.V768V|CNTN6_ENST00000350110.2_Silent_p.V840V			Q9UQ52	CNTN6_HUMAN	contactin 6	840	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.V840V(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTATCAGGTCTTATACTGGA	0.358000													32	197					3.28013e-08	3.54573e-08	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151162731	151162731	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:151162731T>A	ENST00000282466.3	-	4	5037	c.5038A>T	c.(5038-5040)Att>Ttt	p.I1680F		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1680	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.I1680F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCCAATGAATGGTGGGCAGG	0.398000													9	111					0	0	1	0	0
SIMC1	375484	broad.mit.edu	37	5	175763780	175763780	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:175763780C>A	ENST00000443967.1	+	10	2579	c.2172C>A	c.(2170-2172)atC>atA	p.I724I	SIMC1_ENST00000341199.6_Silent_p.I309I|SIMC1_ENST00000430704.2_Silent_p.I309I|SIMC1_ENST00000332772.4_Silent_p.I185I					SUMO-interacting motifs containing 1									p.I724I(2)									TGTTAGAAATCATATTCCTCC	0.483000													134	64					5.80039e-70	8.79945e-70	1	1	0
NAV2	89797	broad.mit.edu	37	11	19955796	19955796	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:19955796C>A	ENST00000396085.1	+	7	2367	c.2006C>A	c.(2005-2007)aCt>aAt	p.T669N	NAV2_ENST00000396087.3_Missense_Mutation_p.T692N|NAV2_ENST00000540292.1_Missense_Mutation_p.T623N|NAV2_ENST00000349880.4_Missense_Mutation_p.T669N|NAV2_ENST00000527559.2_Missense_Mutation_p.T621N|NAV2_ENST00000360655.4_Missense_Mutation_p.T605N	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	692						nucleus	ATP binding|helicase activity	p.T692N(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CATCCCAACACTGCCACGGTT	0.552000													40	88					1.465e-08	1.59656e-08	1	1	0
HAUS4	54930	broad.mit.edu	37	14	23421768	23421768	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr14:23421768T>C	ENST00000206474.7	-	3	432	c.180A>G	c.(178-180)ctA>ctG	p.L60L	RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000490506.1_Intron|HAUS4_ENST00000555367.1_Silent_p.L60L|HAUS4_ENST00000555986.1_Silent_p.L60L|RP11-298I3.5_ENST00000555074.1_Intron|HAUS4_ENST00000342454.8_Silent_p.L60L|HAUS4_ENST00000397409.4_Silent_p.L60L|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000347758.2_Silent_p.L60L|HAUS4_ENST00000541587.1_Silent_p.L60L			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	60					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.L60L(2)		breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GCTCCTTTGCTAGGGTGAGGC	0.468000													38	84					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34312507	34312507	+	Silent	SNP	G	G	A	rs143306375		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:34312507G>A	ENST00000373381.4	-	6	1187	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	297						integral to membrane|plasma membrane	protein binding	p.R297R(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTGAATCCGCGCTGCCGGT	0.607000													286	100					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156347121	156347121	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:156347121G>A	ENST00000400992.2	+	3	378	c.10G>A	c.(10-12)Gtg>Atg	p.V4M	RHBG_ENST00000255013.3_Missense_Mutation_p.V4M|RHBG_ENST00000451864.2_Missense_Mutation_p.V4M|RHBG_ENST00000368249.1_Missense_Mutation_p.V73M|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368246.2_Missense_Mutation_p.V73M			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	73					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.V73M(2)|p.V4M(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CATGGTCTTCGTGGGCTTTGG	0.627000													5	185					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131186710	131186710	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:131186710G>A	ENST00000337057.3	-	17	2976	c.2795C>T	c.(2794-2796)tCc>tTc	p.S932F	EPB41L2_ENST00000527411.1_Missense_Mutation_p.S862F|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S674F|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S674F|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S862F|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.S310F|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S779F|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S932F|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S633F|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S738F|EPB41L2_ENST00000531410.1_Missense_Mutation_p.S53F	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	932	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	p.S932F(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGTTGACACGGACTCAGATGT	0.458000													16	637					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129264072	129264072	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:129264072G>A	ENST00000287295.3	-	15	1873	c.1643C>T	c.(1642-1644)cCg>cTg	p.P548L	AIFM1_ENST00000460436.2_Missense_Mutation_p.P209L|AIFM1_ENST00000346424.2_Missense_Mutation_p.P261L|AIFM1_ENST00000319908.3_Missense_Mutation_p.P544L|AIFM1_ENST00000440263.1_Missense_Mutation_p.P196L|AIFM1_ENST00000535724.1_3'UTR	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	548					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.P544L(2)|p.P548L(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TGGAACTGCCGGGGTGCTGGG	0.542000													158	283					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141259374	141259374	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:141259374G>T	ENST00000286364.3	+	5	485		c.e5-1		RASA2_ENST00000452898.1_Splice_Site			Q15283	RASA2_HUMAN	RAS p21 protein activator 2						intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	p.?(4)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGTCATTATAGGGTAAAGTTC	0.328000													65	100					7.31121e-38	1.01671e-37	1	1	0
GABRA5	2558	broad.mit.edu	37	15	27128556	27128556	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr15:27128556C>T	ENST00000335625.5	+	6	1237	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	GABRA5_ENST00000355395.5_Missense_Mutation_p.R117C|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R117C|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	117					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R117C(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCCATGCAGCGCCTCCCTCT	0.537000													56	88					0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30327006	30327006	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:30327006C>A	ENST00000378970.4	-	1	709	c.475G>T	c.(475-477)Gct>Tct	p.A159S	NR0B1_ENST00000453287.1_Missense_Mutation_p.A159S	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	159	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	p.A159S(2)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCTGCCGGAGCCACGTGCGTT	0.677000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	28					0.0477658	0.0479453	1	1	0
SEC24D	9871	broad.mit.edu	37	4	119659495	119659495	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:119659495C>A	ENST00000379735.5	-	19	2691	c.2420G>T	c.(2419-2421)cGg>cTg	p.R807L	SEC24D_ENST00000419654.2_Missense_Mutation_p.R362L|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000511481.1_Missense_Mutation_p.R437L|SEC24D_ENST00000280551.6_Missense_Mutation_p.R806L|SEC24D_ENST00000429811.2_Missense_Mutation_p.R362L	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	806					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.R806L(2)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TAGAATTTCCCGGATGACCTT	0.423000													103	222					1.56001e-33	2.13601e-33	1	1	0
EMC1	23065	broad.mit.edu	37	1	19564614	19564614	+	Missense_Mutation	SNP	T	T	C	rs144675935		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:19564614T>C	ENST00000477853.1	-	11	1151	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S	EMC1_ENST00000375199.3_Missense_Mutation_p.N369S|EMC1_ENST00000375208.3_Missense_Mutation_p.N348S|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1									p.N370S(2)									GTAGGTCTGATTGAAGCAAGC	0.547000													17	75					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39454487	39454487	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr13:39454487C>T	ENST00000280481.7	+	24	9289	c.9073C>T	c.(9073-9075)Cga>Tga	p.R3025*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3025					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R3025*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAATGCCAATCGAGGTATTGG	0.448000													4	133					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65420411	65420411	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:65420411C>T	ENST00000519389.1	+	12	2235	c.2056C>T	c.(2056-2058)Ccc>Tcc	p.P686S	HEPH_ENST00000336279.5_Missense_Mutation_p.P365S|HEPH_ENST00000374727.3_Missense_Mutation_p.P635S|HEPH_ENST00000343002.2_Missense_Mutation_p.P632S|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.P635S			Q9BQS7	HEPH_HUMAN	hephaestin	632	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.P632S(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTCTAACCTGCCCAGGCTGGA	0.547000													28	65					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071071	9071071	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:9071071G>T	ENST00000397910.4	-	3	16578	c.16375C>A	c.(16375-16377)Ctg>Atg	p.L5459M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5461	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L5459M(4)|p.L1092M(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTCCCCCAGGGTGGAGGTG	0.498000													175	422					3.46395e-70	5.28501e-70	1	1	0
MKI67	4288	broad.mit.edu	37	10	129904904	129904904	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:129904904T>A	ENST00000368654.3	-	13	5575	c.5200A>T	c.(5200-5202)Aaa>Taa	p.K1734*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1374*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1734	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.K1734*(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAGGATACTTTGGTAGTTTTT	0.488000													49	80					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651310	15651310	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:15651310G>T	ENST00000269703.2	+	8	920	c.721G>T	c.(721-723)Gtc>Ttc	p.V241F	CYP4F22_ENST00000601005.2_Missense_Mutation_p.V241F	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	241						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.V241F(2)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGCTCTGTCTGTCCGGCGCCA	0.557000													30	80					1.36615e-20	1.70449e-20	1	1	0
MTR	4548	broad.mit.edu	37	1	237052487	237052487	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:237052487C>T	ENST00000366577.5	+	28	3252	c.2858C>T	c.(2857-2859)cCc>cTc	p.P953L	MTR_ENST00000535889.1_Missense_Mutation_p.P902L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	953	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.P953L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTAGTGAAGCCCACGTTTATT	0.557000													53	145					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40798230	40798230	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:40798230C>A	ENST00000397128.2	-	1	70	c.62G>T	c.(61-63)cGg>cTg	p.R21L	PRKAA1_ENST00000354209.3_Missense_Mutation_p.R21L|PRKAA1_ENST00000296800.4_Missense_Mutation_p.R12L	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	21					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	p.R21L(2)		breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	GATCTTCACCCGCCCGTCGTG	0.667000													12	20					9.7654e-05	9.98989e-05	1	1	0
B4GALNT1	2583	broad.mit.edu	37	12	58023958	58023958	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:58023958T>C	ENST00000341156.4	-	6	1273	c.689A>G	c.(688-690)tAc>tGc	p.Y230C	B4GALNT1_ENST00000550764.1_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.Y175C|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.Y230C	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	230					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.Y230C(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTTGGTCTGGTAGCTTCGGCT	0.572000													38	100					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37126007	37126007	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr20:37126007G>T	ENST00000262879.6	+	4	685	c.401G>T	c.(400-402)gGt>gTt	p.G134V	RALGAPB_ENST00000397040.1_Missense_Mutation_p.G134V|RALGAPB_ENST00000537204.1_Missense_Mutation_p.G134V|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.G134V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	134					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.G134V(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGGAACAGGGTTCCAGTCAG	0.498000													38	18					1.23713e-20	1.55077e-20	1	1	0
TULP3	7289	broad.mit.edu	37	12	3042678	3042678	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:3042678G>A	ENST00000448120.2	+	7	842	c.791G>A	c.(790-792)aGt>aAt	p.S264N	TULP3_ENST00000397132.2_Missense_Mutation_p.S264N	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	264					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	p.S264N(1)		endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GAAGGAGAAAGTTATGTCGGC	0.398000													6	147					0	0	1	0	0
EXOSC7	23016	broad.mit.edu	37	3	45038682	45038682	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:45038682G>T	ENST00000265564.7	+	4	406	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	120					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding	p.D120Y(2)		endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		AAGCAGTGTCGACTTAAAGAC	0.488000													56	137					4.1673e-28	5.48113e-28	1	1	0
TLR6	10333	broad.mit.edu	37	4	38831004	38831004	+	Nonsense_Mutation	SNP	C	C	A	rs138225547		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:38831004C>A	ENST00000436693.2	-	2	210	c.91G>T	c.(91-93)Gga>Tga	p.G31*	TLR6_ENST00000381950.1_Nonsense_Mutation_p.G31*	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	31					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	p.G31*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTCATTTCCGTCGGAGAAC	0.373000													64	149					1.20873e-29	1.61366e-29	1	1	0
FLNC	2318	broad.mit.edu	37	7	128496848	128496848	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:128496848C>A	ENST00000325888.8	+	45	7695	c.7434C>A	c.(7432-7434)atC>atA	p.I2478I	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.I2445I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2478	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.I2478I(2)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCACTCCATCGATGTCAAGT	0.592000													24	29					4.3181e-19	5.33765e-19	1	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821138	5821138	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:5821138C>A	ENST00000381095.3	-	5	2208	c.1581G>T	c.(1579-1581)tgG>tgT	p.W527C	NLGN4X_ENST00000275857.6_Missense_Mutation_p.W527C|NLGN4X_ENST00000381092.1_Missense_Mutation_p.W527C|NLGN4X_ENST00000381093.2_Missense_Mutation_p.W547C|NLGN4X_ENST00000538097.1_Missense_Mutation_p.W527C	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	527					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.W527C(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGAAGTTCGTCCAGTAGGTCA	0.502000													8	169					3.86212e-05	3.98141e-05	1	1	0
GABBR2	9568	broad.mit.edu	37	9	101235551	101235551	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr9:101235551C>A	ENST00000259455.2	-	6	1335	c.876G>T	c.(874-876)caG>caT	p.Q292H	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	292					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.Q292H(2)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CCGTGTGCACCTGCTCCCACC	0.537000													62	56					4.66136e-34	6.44862e-34	1	1	0
CDH23	64072	broad.mit.edu	37	10	73270728	73270728	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:73270728C>A	ENST00000224721.6	+	4	311	c.306C>A	c.(304-306)acC>acA	p.T102T	CDH23_ENST00000461841.3_Silent_p.T147T|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398842.3_Silent_p.T102T|CDH23_ENST00000398809.4_Silent_p.T102T|CDH23_ENST00000299366.7_Silent_p.T147T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	102	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.T102T(4)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGAGTTCACCGTGGAGTTCT	0.617000													23	45					2.61193e-14	3.05871e-14	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113988081	113988081	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr8:113988081C>A	ENST00000297405.5	-	7	1571	c.1327G>T	c.(1327-1329)Gtt>Ttt	p.V443F	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.V443F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V403F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	443						integral to membrane|plasma membrane		p.V403F(2)|p.V443F(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAGTAACAACTGCAAGCTCT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			55	155					2.20561e-19	2.73906e-19	1	1	0
C10orf71	118461	broad.mit.edu	37	10	50531828	50531828	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:50531828C>T	ENST00000374144.3	+	3	1526	c.1238C>T	c.(1237-1239)aCa>aTa	p.T413I	C10orf71_ENST00000323868.4_Missense_Mutation_p.T413I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	413								p.T413I(2)		endometrium(1)	1						CCTTTGTATACAAAACACAAC	0.438000													7	155					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248757058	248757058	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:248757058G>T	ENST00000330500.2	-	1	42	c.12C>A	c.(10-12)gcC>gcA	p.A4A		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A4A(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGTCTGGTTGGCCAGCCGCA	0.458000													43	88					1.5731e-28	2.0793e-28	1	1	0
OTUD7B	56957	broad.mit.edu	37	1	149915924	149915924	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:149915924C>A	ENST00000369135.3	-	12	2658	c.2364G>T	c.(2362-2364)tgG>tgT	p.W788C		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	788					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	p.W788C(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GACCTCCAGCCCATCCATCTG	0.547000													102	223					1.44786e-46	2.10097e-46	1	1	0
EPX	8288	broad.mit.edu	37	17	56270454	56270454	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:56270454G>C	ENST00000225371.5	+	2	242	c.132G>C	c.(130-132)aaG>aaC	p.K44N		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	44					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.K44N(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CAGAGGCCAAGTTGCTGGTGG	0.617000													121	244					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55361675	55361675	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:55361675C>A	ENST00000290552.7	+	4	1923	c.591C>A	c.(589-591)ttC>ttA	p.F197L	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	197						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F197L(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCACCTGGTTCGCCAACGCAC	0.577000													21	48					1.96895e-08	2.13703e-08	1	1	0
IDS	3423	broad.mit.edu	37	X	148564704	148564704	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:148564704G>A	ENST00000340855.6	-	9	1435	c.1226C>T	c.(1225-1227)aCg>aTg	p.T409M	IDS_ENST00000537071.1_Missense_Mutation_p.T12M|IDS_ENST00000541269.1_Missense_Mutation_p.T198M|AF011889.5_ENST00000422081.1_RNA	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	409						lysosome	iduronate-2-sulfatase activity|metal ion binding	p.T409M(2)		NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCAGCCAGCGTGGGAAAAAG	0.512000													47	155					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89920950	89920950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:89920950G>T	ENST00000405460.2	+	6	658	c.562G>T	c.(562-564)Gag>Tag	p.E188*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	188					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.E188*(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTGCAGGTAGAGGGTGGCCC	0.393000													37	15					3.38236e-24	4.34178e-24	1	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64133210	64133210	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:64133210G>T	ENST00000295902.6	-	7	1541	c.956C>A	c.(955-957)tCt>tAt	p.S319Y	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S375Y	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	319						cytoplasm|nuclear membrane	zinc ion binding	p.S319Y(2)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGAGGAGTCAGAACCATTGGG	0.607000													22	113					4.7796e-09	5.29525e-09	1	1	0
OR14I1	401994	broad.mit.edu	37	1	248845133	248845133	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:248845133G>T	ENST00000342623.3	-	1	496	c.473C>A	c.(472-474)aCt>aAt	p.T158N		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T158N(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CATGTTGCCAGTGTGGACGGC	0.547000													26	64					1.2476e-16	1.50049e-16	1	1	0
KRT3	3850	broad.mit.edu	37	12	53189527	53189527	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:53189527G>T	ENST00000417996.2	-	1	374	c.300C>A	c.(298-300)ggC>ggA	p.G100G	KRT3_ENST00000309505.3_Silent_p.G100G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	100	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	p.G100G(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						cacctccatagccgctcccaa	0.652000													9	15					2.52707e-12	2.87118e-12	1	1	0
BPI	671	broad.mit.edu	37	20	36964032	36964032	+	Missense_Mutation	SNP	C	C	A	rs143433981		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr20:36964032C>A	ENST00000262865.4	+	14	1470	c.1381C>A	c.(1381-1383)Ccg>Acg	p.P461T	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	461					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.P461T(2)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCTCCCGACGCCGGCCAGAGT	0.562000													98	98					2.52272e-32	3.38476e-32	1	1	0
SOX30	11063	broad.mit.edu	37	5	157053465	157053465	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:157053465G>A	ENST00000265007.6	-	5	2486	c.2145C>T	c.(2143-2145)gaC>gaT	p.D715D	SOX30_ENST00000519442.1_Silent_p.D410D|SOX30_ENST00000311371.5_3'UTR	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	715					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.D715D(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGTTCCAATGTCCAGCTGAG	0.453000													6	170					0	0	1	0	0
C14orf105	55195	broad.mit.edu	37	14	57960335	57960335	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr14:57960335A>G	ENST00000216445.3	-	1	235	c.99T>C	c.(97-99)ttT>ttC	p.F33F	C14orf105_ENST00000526336.1_Silent_p.F33F|C14orf105_ENST00000534126.1_Silent_p.F33F|C14orf105_ENST00000422976.2_Silent_p.F33F	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	33								p.F33F(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						GATTGAATGCAAAGTCCACAC	0.463000													96	225					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69882001	69882001	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:69882001C>T	ENST00000358913.5	+	2	1294	c.806C>T	c.(805-807)cCc>cTc	p.P269L	MYPN_ENST00000540630.1_Missense_Mutation_p.P269L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.P269L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	269	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding	p.P269L(2)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGGCAACCTCCCCGGTTCACT	0.527000													19	93					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55716908	55716908	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:55716908G>T	ENST00000376350.3	-	4	427	c.405C>A	c.(403-405)atC>atA	p.I135I	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	135	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.I135I(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGGTCAGGGCGATGGAGCTGT	0.587000													25	18					3.28513e-13	3.7645e-13	1	1	0
STX18	53407	broad.mit.edu	37	4	4458978	4458978	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:4458978C>G	ENST00000306200.2	-	5	500	c.437G>C	c.(436-438)tGt>tCt	p.C146S	STX18_ENST00000505286.1_Missense_Mutation_p.C146S	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	146					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity	p.C146S(2)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		GTAAAGTTTACATACTCCTGT	0.353000													51	147					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080061	54080061	+	Missense_Mutation	SNP	T	T	C	rs146144933	byFrequency	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:54080061T>C	ENST00000253144.9	+	7	1580	c.247T>C	c.(247-249)Tgg>Cgg	p.W83R	ZNF331_ENST00000449416.1_Missense_Mutation_p.W83R|ZNF331_ENST00000511593.2_Missense_Mutation_p.W83R|ZNF331_ENST00000411977.2_Missense_Mutation_p.W83R|ZNF331_ENST00000513999.1_Missense_Mutation_p.W83R|ZNF331_ENST00000513265.1_Missense_Mutation_p.W83R|ZNF331_ENST00000512387.1_Missense_Mutation_p.W83R|ZNF331_ENST00000511154.1_Missense_Mutation_p.W83R	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W83R(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGGCCGTAACTGGATATGTGA	0.393000			T	?	follicular thyroid adenoma								3	49					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124731954	124731954	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:124731954G>A	ENST00000311127.4	-	6	2536	c.2469C>T	c.(2467-2469)tcC>tcT	p.S823S		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	823						extracellular region|integral to membrane	calcium ion binding	p.S823S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TTTGCTCTGTGGAGGACTCTG	0.478000													62	125					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049524	11049524	+	RNA	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr21:11049524G>T	ENST00000470054.1	-	0	584									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTGTATCCAGGCACATTCCAT	0.458000													118	252					8.17084e-111	1.26105e-110	1	1	0
KDM3B	51780	broad.mit.edu	37	5	137722285	137722285	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:137722285G>A	ENST00000314358.5	+	7	1555	c.1355G>A	c.(1354-1356)gGc>gAc	p.G452D	KDM3B_ENST00000394866.1_Missense_Mutation_p.G108D|KDM3B_ENST00000542866.1_5'UTR	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	452					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.G452D(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAACAGAAAGGCAGCCGGTCG	0.527000													30	77					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47699995	47699995	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr21:47699995T>C	ENST00000397708.1	-	5	1833	c.1579A>G	c.(1579-1581)Agc>Ggc	p.S527G	MCM3AP_ENST00000291688.1_Missense_Mutation_p.S527G			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	527					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.S527G(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GTGCTCGGGCTGACTTCACCG	0.532000													35	76					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144855788	144855788	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:144855788C>A	ENST00000369359.4	-	44	7211	c.7173G>T	c.(7171-7173)tgG>tgT	p.W2391C	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.W2255C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.W2255C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.W2340C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.W2149C|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2255					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.W2255C(4)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGCCGCTCTCCAGAACATGG	0.582000			T	PDGFRB	MPD								26	95					9.39395e-14	1.08111e-13	1	1	0
OR2T2	401992	broad.mit.edu	37	1	248616139	248616139	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:248616139T>G	ENST00000342927.3	+	1	63	c.41T>G	c.(40-42)gTc>gGc	p.V14G		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V14S(2)|p.V14A(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACTAACTTCGTCCTCACAGGC	0.502000													30	247					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10382279	10382279	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:10382279G>A	ENST00000397077.1	-	19	3467	c.2892C>T	c.(2890-2892)aaC>aaT	p.N964N	ATP2B2_ENST00000352432.4_Silent_p.N1009N|ATP2B2_ENST00000343816.4_Silent_p.N995N|ATP2B2_ENST00000383800.4_Silent_p.N964N|ATP2B2_ENST00000360273.2_Silent_p.N1009N			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1009					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.N1009N(2)|p.N964N(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTTGATCTCGTTGAAGAGCT	0.562000													115	383					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78325854	78325854	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:78325854C>A	ENST00000255189.3	-	11	1715	c.1687G>T	c.(1687-1689)Ggt>Tgt	p.G563C	DMGDH_ENST00000380311.4_Missense_Mutation_p.G362C|DMGDH_ENST00000540686.1_Missense_Mutation_p.G183C	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	563					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.G563C(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTTGTAAAACCCACCTACATA	0.348000													14	64					7.93312e-07	8.5066e-07	1	1	0
CCDC129	223075	broad.mit.edu	37	7	31690852	31690852	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:31690852C>T	ENST00000319386.3	+	12	3229	c.2236C>T	c.(2236-2238)Ctc>Ttc	p.L746F	CCDC129_ENST00000409210.1_Missense_Mutation_p.L802F|CCDC129_ENST00000407970.3_Missense_Mutation_p.L894F|CCDC129_ENST00000451887.2_Missense_Mutation_p.L920F			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	894								p.L894F(2)|p.L746F(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACAGCAGGCCCTCTTTTCCAG	0.473000													165	303					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059153	248059153	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:248059153G>T	ENST00000537741.1	+	3	522	c.265G>T	c.(265-267)Gac>Tac	p.D89Y	OR2W3_ENST00000360358.3_Missense_Mutation_p.D89Y			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D89Y(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TAATGGATGTGACAAGACCAT	0.567000													80	200					2.9056e-39	4.06176e-39	1	1	0
BTK	695	broad.mit.edu	37	X	100613339	100613339	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:100613339G>A	ENST00000308731.7	-	12	1224	c.1061C>T	c.(1060-1062)aCc>aTc	p.T354I	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	354	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.T354I(2)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTCAGGGATGGTGCTGAAAAG	0.502000									Agammaglobulinemia, X-linked				193	360					0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45568239	45568239	+	RNA	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:45568239C>A	ENST00000256692.5	-	0	446					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCCCAGGGCCACCAGCCGCC	0.473000													30	57					1.88708e-17	2.27987e-17	1	1	0
C10orf53	282966	broad.mit.edu	37	10	50916417	50916417	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:50916417C>A	ENST00000374112.3	+	3	240	c.228C>A	c.(226-228)acC>acA	p.T76T	C10orf53_ENST00000535836.1_Silent_p.T76T	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	79								p.T76T(2)		endometrium(1)|lung(6)	7		all_neural(218;0.107)				gcaagctcaccccaagtagtg	0.493000													83	160					1.39521e-32	1.90061e-32	1	1	0
ABCA5	23461	broad.mit.edu	37	17	67300882	67300882	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:67300882T>C	ENST00000392676.3	-	7	922	c.858A>G	c.(856-858)acA>acG	p.T286T	ABCA5_ENST00000392677.2_Silent_p.T286T|ABCA5_ENST00000588877.1_Silent_p.T286T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	286					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.T286T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ACAAAGAAGCTGTCGCAATGA	0.323000													34	81					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000141	56000141	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:56000141C>A	ENST00000313264.4	-	1	596	c.521G>T	c.(520-522)aGc>aTc	p.S174I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S174I(2)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GGGTGACATGCTCACTGAATA	0.433000													318	555					7.98914e-189	1.24743e-188	1	1	0
NOLC1	9221	broad.mit.edu	37	10	103917833	103917833	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:103917833G>T	ENST00000405356.1	+	5	704	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_Missense_Mutation_p.A157S|NOLC1_ENST00000488254.2_Missense_Mutation_p.A158S			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	157	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	p.A157S(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AGCCAAGGCAGCCAAAGCTCC	0.488000													38	80					1.86633e-21	2.35052e-21	1	1	0
OR10A4	283297	broad.mit.edu	37	11	6898596	6898596	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:6898596T>G	ENST00000379829.2	+	1	741	c.718T>G	c.(718-720)Tcc>Gcc	p.S240A		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S240A(2)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGGCATTCTCCACCTGTTC	0.507000													43	298					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													4	41					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887584	23887584	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr14:23887584G>A	ENST00000355349.3	-	30	4166	c.4004C>T	c.(4003-4005)tCg>tTg	p.S1335L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335L(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGCCGGGCCGACTGCAGTGC	0.657000													4	32					0	0	1	0	0
DDX49	54555	broad.mit.edu	37	19	19033422	19033422	+	Silent	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:19033422C>T	ENST00000438170.2	+	7	736	c.324C>T	c.(322-324)acC>acT	p.T108T	DDX49_ENST00000599156.1_Intron|DDX49_ENST00000247003.4_Silent_p.T215T|AC002985.3_ENST00000596918.1_Intron			Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	215	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.T215T(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GGGTGAGCACCGTGGAGCAGC	0.637000													6	21					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31273080	31273080	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:31273080G>T	ENST00000544665.3	+	2	167	c.96G>T	c.(94-96)agG>agT	p.R32S	ITGAM_ENST00000287497.8_Missense_Mutation_p.R32S	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	32					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.R32S(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGAACGCAAGGGGCTTCGGGC	0.517000													99	165					3.90656e-58	5.73106e-58	1	1	0
EP400	57634	broad.mit.edu	37	12	132510236	132510236	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:132510236G>T	ENST00000333577.4	+	26	5118	c.5009G>T	c.(5008-5010)cGa>cTa	p.R1670L	EP400_ENST00000330386.6_Missense_Mutation_p.R1553L|EP400_ENST00000389561.2_Missense_Mutation_p.R1634L|EP400_ENST00000332482.4_Missense_Mutation_p.R1597L|EP400_ENST00000389562.2_Missense_Mutation_p.R1633L			Q96L91	EP400_HUMAN	E1A binding protein p400	1670					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.R1633L(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCTACCTTCGAGCCCCTGGC	0.672000													8	15					2.17888e-05	2.28141e-05	1	1	0
SLC30A9	10463	broad.mit.edu	37	4	42003698	42003698	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:42003698G>C	ENST00000264451.6	+	2	355	c.175G>C	c.(175-177)Ggt>Cgt	p.G59R		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	59					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	p.G59R(2)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCATATATTGGTACCCTGAG	0.353000													115	232					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270018	114270018	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:114270018G>A	ENST00000393500.3	+	11	1150	c.330G>A	c.(328-330)caG>caA	p.Q110Q	FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q			O15409	FOXP2_HUMAN	forkhead box P2	185	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcaacagcagcagcagc	0.502000													19	65					0	0	1	0	0
CYP2D7	1564	broad.mit.edu	37	22	42538029	42538029	+	RNA	SNP	A	A	G	rs1058167	by1000genomes	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr22:42538029A>G	ENST00000433992.1	-	0	803				CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						TGGGATGTGCAGGAGGACGGG	0.592000													4	83					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32048735	32048735	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:32048735G>T	ENST00000438447.1	+	8	1998	c.1610G>T	c.(1609-1611)cGa>cTa	p.R537L	PDZD2_ENST00000282493.3_Missense_Mutation_p.R537L			O15018	PDZD2_HUMAN	PDZ domain containing 2	537					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.R537L(2)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGGTCTCCCGAGATGGCCGG	0.562000													12	67					2.23348e-06	2.38536e-06	1	1	0
COQ7	10229	broad.mit.edu	37	16	19087069	19087069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:19087069G>T	ENST00000321998.5	+	4	460	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	COQ7_ENST00000569127.1_Nonsense_Mutation_p.E109*|COQ7_ENST00000568985.1_Nonsense_Mutation_p.E132*|COQ7_ENST00000544894.2_Nonsense_Mutation_p.E94*	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	132	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	p.E132*(2)		breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						GCTCGGGAAGGAAGGTGCCAT	0.552000													16	101					1.45105e-14	1.70674e-14	1	1	0
ZDHHC9	51114	broad.mit.edu	37	X	128957764	128957764	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:128957764G>A	ENST00000357166.6	-	5	769	c.378C>T	c.(376-378)atC>atT	p.I126I	ZDHHC9_ENST00000371064.3_Silent_p.I126I|ZDHHC9_ENST00000491039.1_5'UTR	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	126						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.I126I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GGAAATTCTTGATACGAGGCG	0.493000													25	387					0	0	1	0	0
PMPCB	9512	broad.mit.edu	37	7	102937953	102937953	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:102937953G>T	ENST00000249269.4	+	1	85	c.47G>T	c.(46-48)cGg>cTg	p.R16L	PMPCB_ENST00000420236.2_5'UTR|PMPCB_ENST00000428154.1_Missense_Mutation_p.R16L	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	16				RR -> GG (in Ref. 1; AAC39915).	proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	p.R16L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCGGCGCGGCGGCGGCTCTGG	0.652000											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	18					5.3912e-06	5.73487e-06	1	1	0
PSG8	440533	broad.mit.edu	37	19	43359724	43359724	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:43359724C>A	ENST00000401467.2	-	1	119	c.48G>T	c.(46-48)aaG>aaT	p.K16N	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	16						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GCAGGACCCCCTTCCATTTGA	0.572000													106	83					2.54656e-39	3.57859e-39	1	1	0
PCLO	27445	broad.mit.edu	37	7	82764395	82764395	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:82764395G>A	ENST00000423517.2	-	3	2808	c.2471C>T	c.(2470-2472)cCt>cTt	p.P824L	PCLO_ENST00000333891.8_Missense_Mutation_p.P824L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	770	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P824L(4)|p.P770L(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTGATGCAGGTCGAGGTAT	0.438000													111	195					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060247	16060247	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:16060247C>G	ENST00000322107.1	+	1	430	c.430C>G	c.(430-432)Cat>Gat	p.H144D		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	144			H -> R (in dbSNP:rs16980822).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H144D(2)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGACTGTGCCCATCTTGTGGC	0.542000													87	194					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158622310	158622310	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:158622310C>A	ENST00000368148.3	-	23	3502	c.3322G>T	c.(3322-3324)Gtg>Ttg	p.V1108L	SPTA1_ENST00000368147.3_Missense_Mutation_p.V1108L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1108					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.V1108L(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTAGTTCCACTCCAGTGTTT	0.408000													81	192					5.12525e-22	6.4855e-22	1	1	0
NEK4	6787	broad.mit.edu	37	3	52794870	52794870	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:52794870T>A	ENST00000233027.5	-	6	1106	c.904A>T	c.(904-906)Aat>Tat	p.N302Y	NEK4_ENST00000535191.1_Missense_Mutation_p.N213Y|NEK4_ENST00000383721.4_Missense_Mutation_p.N302Y	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	302					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.N302Y(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		ACTTCATGATTTGATTCTGCC	0.378000													75	76					0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20824527	20824527	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:20824527G>T	ENST00000304031.3	-	5	774	c.749C>A	c.(748-750)cCa>cAa	p.P250Q		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	250					cell communication		phosphatidylinositol binding	p.P250Q(2)		endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGTCCTGTGGAGACAGCTT	0.642000													3	35					8.12818e-05	8.34702e-05	1	1	0
KIF2B	84643	broad.mit.edu	37	17	51900791	51900791	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:51900791G>T	ENST00000268919.4	+	1	553	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	133					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.V133L(2)|p.V133M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGCCTGGATGTGAGGGTCCC	0.582000													57	115					1.64573e-32	2.23051e-32	1	1	0
NBPF14	25832	broad.mit.edu	37	1	148016411	148016411	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:148016411G>A	ENST00000369219.1	-	7	847	c.831C>T	c.(829-831)ccC>ccT	p.P277P				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	277	NBPF 3.					cytoplasm		p.P277P(2)|p.P283L(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGACTCACCTGGGACCTGTTG	0.438000													458	214					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110862504	110862504	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr13:110862504C>G	ENST00000375820.4	-	9	645	c.524G>C	c.(523-525)aGa>aCa	p.R175T	COL4A1_ENST00000543140.1_Missense_Mutation_p.R175T	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	175	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.R175T(2)|p.R166T(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGAAATCCTCTTTCACCTTT	0.453000													52	53					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98146807	98146807	+	Missense_Mutation	SNP	G	G	T	rs144026118		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:98146807G>T	ENST00000357947.3	-	14	1980	c.1755C>A	c.(1753-1755)caC>caA	p.H585Q		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	585	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.H585Q(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CGCACCCGCCGTGATCTGGCC	0.582000													78	86					6.48246e-70	9.77863e-70	1	1	0
IRS4	8471	broad.mit.edu	37	X	107977623	107977623	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:107977623C>G	ENST00000372129.2	-	1	2028	c.1952G>C	c.(1951-1953)gGa>gCa	p.G651A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	651						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.G651A(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTGAATCTTCCCCCAGACTT	0.493000													8	228					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114186033	114186033	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr8:114186033G>A	ENST00000297405.5	-	4	871	c.627C>T	c.(625-627)atC>atT	p.I209I	CSMD3_ENST00000455883.2_Silent_p.I209I|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Silent_p.I209I|CSMD3_ENST00000343508.3_Silent_p.I169I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	209	Sushi 1.					integral to membrane|plasma membrane		p.I209I(2)|p.I169I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCCATCAAGGATGTATCCAG	0.458000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			81	301					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11047364	11047364	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:11047364A>G	ENST00000379261.4	+	1	106	c.14A>G	c.(13-15)aAa>aGa	p.K5R	CELF2_ENST00000416382.2_Missense_Mutation_p.K5R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	5	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	p.K5R(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CGCTGTCCCAAATCCGCTGTT	0.438000													57	289					0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6704148	6704148	+	Missense_Mutation	SNP	G	G	C	rs150562113		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:6704148G>C	ENST00000338694.2	-	7	1096	c.967C>G	c.(967-969)Cgg>Ggg	p.R323G	TEKT1_ENST00000535086.1_Missense_Mutation_p.R177G	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	323					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.H322_R323>QG(1)|p.R323G(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ACGTTCGGCCGGTGTGTCCTG	0.527000											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	198	229					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase.		L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537000	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			116	299					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925554	54925554	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:54925554C>A	ENST00000293373.6	+	25	2805	c.2726C>A	c.(2725-2727)aCc>aAc	p.T909N	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.T859N	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	909					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.T909N(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AAGCGCATGACCATCATTGGG	0.493000													37	102					2.46787e-29	3.27822e-29	1	1	0
AHRR	57491	broad.mit.edu	37	5	353963	353963	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:353963C>G	ENST00000316418.5	+	3	237	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Missense_Mutation_p.L61V|AHRR_ENST00000505113.1_Missense_Mutation_p.L65V	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	65	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.L61V(2)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CATCTCCAAGCTGGACAAGCT	0.592000													10	39					0	0	1	0	0
C10orf112	340895	broad.mit.edu	37	10	19856611	19856611	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:19856611A>T	ENST00000454679.2	+	19	3757	c.3757A>T	c.(3757-3759)Acc>Tcc	p.T1253S	C10orf112_ENST00000455457.2_Missense_Mutation_p.T81S					chromosome 10 open reading frame 112									p.T1253S(1)		breast(1)|lung(2)	3						CATCTCTTTTACCCCAGAGTG	0.378000													4	4					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3684492	3684492	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr20:3684492G>A	ENST00000344754.4	-	4	952	c.953C>T	c.(952-954)cCc>cTc	p.P318L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P318L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	318	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P318L(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GAGGCTGATGGGGGGTGAGAC	0.612000													24	26					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20443793	20443793	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr14:20443793T>A	ENST00000305051.5	+	1	191	c.116T>A	c.(115-117)cTg>cAg	p.L39Q		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L39Q(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGTGTTGCTGGGACTGTCT	0.403000													218	315					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96506952	96506952	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:96506952T>A	ENST00000283109.3	-	6	805	c.737A>T	c.(736-738)gAt>gTt	p.D246V	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.D246V	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	246							ATP binding|protein serine/threonine kinase activity	p.D246V(4)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CTGTGGAAAATCAATCATGGT	0.318000													67	187					0	0	1	0	0
ALMS1P	200420	broad.mit.edu	37	2	73901983	73901983	+	RNA	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:73901983C>G	ENST00000450720.1	+	0	936					NR_003683.2													p.Q152E(2)									CCTGGCTGTCCAGAAGAACAA	0.478000													57	70					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228492264	228492264	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:228492264A>G	ENST00000570156.2	+	53	14337	c.14263A>G	c.(14263-14265)Agg>Ggg	p.R4755G	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1445G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3798					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R4380G(2)|p.R4510G(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTCACGATCAGGGGTAAAGA	0.557000													55	134					0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39620561	39620561	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:39620561C>A	ENST00000225899.3	-	4	946	c.843G>T	c.(841-843)agG>agT	p.R281S		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	281	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.R281S(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCTCCACGTCCCTGCGGTTGG	0.617000													23	45					1.12875e-08	1.23515e-08	1	1	0
PDE1C	5137	broad.mit.edu	37	7	31864558	31864558	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:31864558C>A	ENST00000396184.3	-	14	1533	c.1329G>T	c.(1327-1329)acG>acT	p.T443T	PDE1C_ENST00000396193.1_Silent_p.T503T|PDE1C_ENST00000396182.2_Silent_p.T443T|PDE1C_ENST00000321453.7_Silent_p.T443T|PDE1C_ENST00000396191.1_Silent_p.T443T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	443	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.T443T(2)|p.D444Y(2)|p.T503T(1)|p.D504Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CGGTCATGTCCGTAAGCACAG	0.483000													128	313					1.67419e-43	2.40327e-43	1	1	0
BNC1	646	broad.mit.edu	37	15	83926569	83926569	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr15:83926569G>A	ENST00000345382.2	-	5	2695	c.2610C>T	c.(2608-2610)agC>agT	p.S870S	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.S863S	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	870	Ser-rich.				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S870S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGGAAGAATGGCTGCTACTCT	0.572000													12	247					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24537699	24537699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:24537699C>A	ENST00000264463.4	-	3	823	c.316G>T	c.(316-318)Gaa>Taa	p.E106*		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	106	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E106*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTGTTTTTTCATCAATAATA	0.388000										HNSCC(23;0.051)			8	122					0.000274275	0.000278447	1	1	0
NRK	203447	broad.mit.edu	37	X	105132286	105132286	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:105132286G>T	ENST00000428173.2	+	5	555		c.e5-1		NRK_ENST00000243300.9_Splice_Site|NRK_ENST00000536164.1_Splice_Site			Q7Z2Y5	NRK_HUMAN	Nik related kinase								ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.?(4)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTATTCCATAGGATGAGGAAG	0.398000										HNSCC(51;0.14)			21	30					2.89027e-11	3.25612e-11	1	1	0
MED24	9862	broad.mit.edu	37	17	38192396	38192396	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:38192396G>A	ENST00000394126.1	-	3	718	c.300C>T	c.(298-300)taC>taT	p.Y100Y	MED24_ENST00000394127.2_Intron|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000501516.3_Silent_p.Y75Y|MED24_ENST00000356271.3_Intron|MED24_ENST00000394128.2_Silent_p.Y75Y			O75448	MED24_HUMAN	mediator complex subunit 24	75					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.Y75Y(2)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GGACAGAAGAGTAGGACACCA	0.498000													74	185					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50946023	50946023	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:50946023G>A	ENST00000374103.4	-	19	2572	c.2487C>T	c.(2485-2487)cgC>cgT	p.R829R	OGDHL_ENST00000419399.1_Silent_p.R772R|OGDHL_ENST00000432695.1_Silent_p.R620R|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	829					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R829R(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGATCTGCCGGCGCAGCACGT	0.652000													58	203					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105189911	105189911	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:105189911T>C	ENST00000428173.2	+	25	4413	c.4110T>C	c.(4108-4110)taT>taC	p.Y1370Y	NRK_ENST00000243300.9_Silent_p.Y1369Y			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1369	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Y1369Y(2)|p.Y1370Y(2)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACATGTCCTATCAAGCCTATA	0.438000										HNSCC(51;0.14)			31	164					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414872	14414872	+	RNA	SNP	C	C	T	rs11088818	by1000genomes	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr21:14414872C>T	ENST00000507941.1	+	0	95																											AGTAGTAACACTTCTGGTAGA	0.473000													4	104					0	0	1	0	0
CXorf40B	541578	broad.mit.edu	37	X	149101918	149101918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:149101918C>A	ENST00000370406.3	-	4	1003	c.175G>T	c.(175-177)Gag>Tag	p.E59*	CXorf40B_ENST00000355203.2_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000462691.1_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000370404.1_Nonsense_Mutation_p.E59*			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	59								p.E59*(2)		endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCGAGTCTCTCCACCAGCAGC	0.577000													37	132					9.62906e-15	1.14265e-14	1	1	0
OPN5	221391	broad.mit.edu	37	6	47775990	47775990	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:47775990A>T	ENST00000489301.2	+	5	942	c.857A>T	c.(856-858)cAg>cTg	p.Q286L	OPN5_ENST00000393699.2_Missense_Mutation_p.Q286L|OPN5_ENST00000371211.2_Missense_Mutation_p.Q286L|OPN5_ENST00000244799.4_3'UTR			Q6U736	OPN5_HUMAN	opsin 5	286					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.Q286L(2)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						ATTCCCATACAGCTCTCTGTG	0.458000													117	231					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28424343	28424343	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr15:28424343T>C	ENST00000261609.7	-	58	9072	c.8964A>G	c.(8962-8964)acA>acG	p.T2988T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2988					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T2988T(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCTGACAGTGTCTCAGAGA	0.294000													38	38					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56443508	56443508	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:56443508C>A	ENST00000588751.1	-	1	194	c.170G>T	c.(169-171)tGg>tTg	p.W57L	NLRP13_ENST00000342929.3_Missense_Mutation_p.W57L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	57	DAPIN.						ATP binding	p.W57L(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAGTTTGCCCAGGGGATACG	0.547000													78	66					4.02712e-25	5.1944e-25	1	1	0
STAG3L4	64940	broad.mit.edu	37	7	66774598	66774598	+	RNA	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:66774598C>T	ENST00000416602.2	+	0	615					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CCAACTGAGTCTGCACGAAGA	0.483000													6	182					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202609145	202609145	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:202609145T>C	ENST00000264276.6	-	10	2378	c.2006A>G	c.(2005-2007)tAt>tGt	p.Y669C		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	669					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	p.Y669C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCTGCTTATATATCCAAGCTG	0.353000													81	43					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20177828	20177828	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:20177828G>T	ENST00000524983.2	-	4	1252	c.964C>A	c.(964-966)Cct>Act	p.P322T	DBX1_ENST00000227256.3_Missense_Mutation_p.P361T			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	322					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P361T(2)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						AAGTCCGAAGGTTTCCCGGGA	0.652000													23	46					2.27731e-05	2.37516e-05	1	1	0
GOLIM4	27333	broad.mit.edu	37	3	167728078	167728078	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:167728078T>C	ENST00000470487.1	-	16	2759	c.2070A>G	c.(2068-2070)tcA>tcG	p.S690S	GOLIM4_ENST00000309027.4_Silent_p.S662S	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	690					transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		p.S690S(2)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTCGATGTGATTTCTCAG	0.493000													113	347					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151664369	151664369	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:151664369C>A	ENST00000392800.2	+	2	292	c.38C>A	c.(37-39)tCc>tAc	p.S13Y	GALNTL5_ENST00000431418.2_Missense_Mutation_p.S13Y	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	13						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.S13Y(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TTCTATGGGTCCTTGACATTT	0.383000													21	79					2.48779e-11	2.81458e-11	1	1	0
ASPM	259266	broad.mit.edu	37	1	197104226	197104226	+	Splice_Site	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:197104226C>A	ENST00000367409.4	-	5	2429	c.2173_splice	c.e5+1	p.V725_splice	ASPM_ENST00000294732.7_Splice_Site_p.V725_splice|ASPM_ENST00000367408.1_5'UTR	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	725					mitosis	cytoplasm|nucleus	calmodulin binding	p.V725L(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAACGTTTACCTTCAGAAATA	0.269000													11	17					3.86212e-05	3.98141e-05	1	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17698743	17698743	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:17698743T>C	ENST00000399080.2	-	1	963	c.940A>G	c.(940-942)Aaa>Gaa	p.K314E		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	314								p.K314E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACAGTTTTTTTATCATTCTGT	0.328000													7	99					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168098448	168098448	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:168098448G>T	ENST00000519560.1	-	34	4301	c.3882C>A	c.(3880-3882)ggC>ggA	p.G1294G	SLIT3_ENST00000332966.8_Silent_p.G1301G|SLIT3_ENST00000404867.3_Silent_p.G1294G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1294	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.G1294G(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCGGTCCGTGCCCTGGCGCA	0.672000													28	13					1.96642e-18	2.40841e-18	1	1	0
ASPA	443	broad.mit.edu	37	17	3385072	3385072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:3385072C>T	ENST00000263080.2	+	2	570	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	ASPA_ENST00000456349.2_Nonsense_Mutation_p.Q138*|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	138					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	p.Q138*(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	CTTTTTAATTCAGATGTTTCA	0.318000													5	19					0	0	1	0	0
QPRT	23475	broad.mit.edu	37	16	29708623	29708623	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:29708623C>A	ENST00000395384.4	+	4	946	c.785C>A	c.(784-786)cCg>cAg	p.P262Q	QPRT_ENST00000562473.1_Missense_Mutation_p.P114Q|QPRT_ENST00000219771.7_3'UTR	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	262					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity	p.P262Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	TTCTGCGGGCCGCACATAGAC	0.632000													23	19					7.87624e-14	9.10371e-14	1	1	0
LAX1	54900	broad.mit.edu	37	1	203743633	203743633	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:203743633G>T	ENST00000442561.2	+	5	1411	c.1021G>T	c.(1021-1023)Gct>Tct	p.A341S	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.A325S	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	341					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.A341S(2)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACATTCCTTGCTTCAGGGGA	0.468000													82	169					1.59803e-59	2.3704e-59	1	1	0
SLC7A11	23657	broad.mit.edu	37	4	139100436	139100436	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:139100436C>A	ENST00000280612.5	-	11	1658	c.1379G>T	c.(1378-1380)gGa>gTa	p.G460V		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	460					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	p.G460V(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CGCAGGGACTCCAGTCAGAGT	0.423000													39	83					4.01765e-15	4.7889e-15	1	1	0
ANKS1B	56899	broad.mit.edu	37	12	99837534	99837534	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:99837534T>G	ENST00000547776.2	-	11	1491	c.1492A>C	c.(1492-1494)Agc>Cgc	p.S498R	ANKS1B_ENST00000547010.1_Missense_Mutation_p.S78R|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S498R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	498						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.S498R(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCTGTTGAGCTGTTTCTATGG	0.438000													107	223					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81187704	81187704	+	RNA	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:81187704G>C	ENST00000525539.1	-	0	4267				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.P1423R(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGGTGGTGGGGCTCTCTCTC	0.602000													6	8					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149131	52149131	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:52149131G>T	ENST00000360844.6	-	3	645	c.604C>A	c.(604-606)Ccc>Acc	p.P202T	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	202	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.P202T(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCGGGCCTGGGGGTGAGGGTG	0.627000													64	40					2.10938e-32	2.84447e-32	1	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227218999	227218999	+	Splice_Site	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:227218999C>G	ENST00000366769.3	-	27	4961	c.3670_splice	c.e27+1	p.D1224_splice	CDC42BPA_ENST00000334218.5_Splice_Site_p.D1224_splice|CDC42BPA_ENST00000366765.3_Splice_Site_p.D1237_splice|CDC42BPA_ENST00000366766.2_Splice_Site_p.D1259_splice|CDC42BPA_ENST00000366764.2_Splice_Site_p.D1196_splice|CDC42BPA_ENST00000535525.1_Splice_Site_p.D1204_splice|CDC42BPA_ENST00000366767.3_Splice_Site_p.D1143_splice	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1237					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.D1224H(2)|p.D1143H(2)|p.D1259H(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AAATTCATACCTATGATTGCG	0.388000													46	92					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63009375	63009375	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:63009375C>G	ENST00000251157.5	-	24	2934	c.2901G>C	c.(2899-2901)gaG>gaC	p.E967D	DOCK7_ENST00000340370.5_Missense_Mutation_p.E936D	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	967					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.E936D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AACTTGACGTCTCTGTGTGCG	0.373000													5	171					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119727780	119727780	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:119727780T>A	ENST00000541757.1	+	4	436	c.56T>A	c.(55-57)cTg>cAg	p.L19Q	MARCO_ENST00000327097.4_Missense_Mutation_p.L97Q			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	97					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.L97Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TTCTCCTTGCTGCAGTCAGCA	0.617000													153	71					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38145111	38145111	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:38145111T>C	ENST00000378505.2	-	15	3317	c.3141A>G	c.(3139-3141)gaA>gaG	p.E1047E	RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	836					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.E1047E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ccccctccttttccctttctt	0.537000													5	12					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12905653	12905653	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:12905653A>T	ENST00000380659.3	+	3	2165	c.2026A>T	c.(2026-2028)Aat>Tat	p.N676Y		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	676					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	p.N676Y(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TATGCCTCCAAATCTAAAGAA	0.373000													10	349					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91667886	91667886	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:91667886A>G	ENST00000359028.2	+	18	4753	c.4528A>G	c.(4528-4530)Att>Gtt	p.I1510V	AKAP9_ENST00000356239.3_Missense_Mutation_p.I1498V|AKAP9_ENST00000358100.2_Missense_Mutation_p.I1510V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1510					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.I1510V(2)|p.I1498V(2)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGGATCAAATTGGTTTTCA	0.323000			T	BRAF	papillary thyroid								35	63					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799160	212799160	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:212799160G>T	ENST00000294829.3	+	1	1372	c.941G>T	c.(940-942)gGg>gTg	p.G314V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	314	Ala-rich.							p.G314V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GCCATAGCTGGGGCGGCCACC	0.642000													16	37					7.87624e-14	9.10371e-14	1	1	0
OR14A16	284532	broad.mit.edu	37	1	247978341	247978341	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:247978341C>T	ENST00000357627.1	-	1	690	c.691G>A	c.(691-693)Ggc>Agc	p.G231S		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G231S(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTTGACTGGCCTTCTGTGGAA	0.413000													105	211					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133256576	133256576	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:133256576T>C	ENST00000320574.5	-	5	430	c.387A>G	c.(385-387)gcA>gcG	p.A129A	POLE_ENST00000535270.1_Silent_p.A102A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	129					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.A129A(4)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTCCACTTTTGCAATTTTGC	0.448000								DNA polymerases (catalytic subunits)					31	50					0	0	1	0	0
FAM86HP	729375	broad.mit.edu	37	3	129821625	129821625	+	RNA	SNP	C	C	G	rs2976118	by1000genomes	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:129821625C>G	ENST00000500074.2	-	0	520																											GTGGTGAACACCTGGCACGTC	0.667000													6	73					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357646	118357646	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:118357646C>T	ENST00000528052.1	+	8	853	c.782C>T	c.(781-783)tCt>tTt	p.S261F	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S261F|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S261F			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	261					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.S261F(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AATGCCCTGTCTCAGATCGTG	0.527000													16	37					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239890	135239890	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:135239890G>A	ENST00000265605.2	-	7	1195	c.1127C>T	c.(1126-1128)aCg>aTg	p.T376M	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T322M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T326M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	376					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.T376M(4)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TGTTATCACCGTGGGAAGCAT	0.502000													27	110					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433035	55433035	+	Silent	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:55433035G>C	ENST00000314259.3	+	1	422	c.393G>C	c.(391-393)acG>acC	p.T131T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T131T(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGCACTACACGATCATCATGA	0.512000													74	184					0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279140	51279140	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:51279140G>A	ENST00000551456.1	+	4	809	c.764G>A	c.(763-765)gGt>gAt	p.G255D	TMPRSS12_ENST00000398458.3_Missense_Mutation_p.G255D			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	255	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.G255D(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TTTTGTGCAGGTGATGAAGAT	0.363000													269	480					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048560	6048560	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:6048560C>A	ENST00000316650.5	-	1	411	c.375G>T	c.(373-375)atG>atT	p.M125I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M125I(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTCATAGGCCATGACCATAA	0.502000													175	328					7.30274e-78	1.12059e-77	1	1	0
GHRHR	2692	broad.mit.edu	37	7	31013682	31013682	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:31013682T>A	ENST00000409904.3	+	4	746	c.488T>A	c.(487-489)cTg>cAg	p.L163Q	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Missense_Mutation_p.L227Q			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	227					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.L227Q(2)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GCCGTCTACCTGAACTGCCTC	0.632000													19	47					0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56109048	56109048	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:56109048G>A	ENST00000221665.3	-	2	273	c.184C>T	c.(184-186)Cac>Tac	p.H62Y	FIZ1_ENST00000592585.1_Intron	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	p.H62Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TTGAAGCTGTGCTTGAAACCC	0.677000													5	58					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161976113	161976113	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:161976113C>A	ENST00000294794.3	-	4	1120	c.697G>T	c.(697-699)Gca>Tca	p.A233S	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A233S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	233	Poly-Ala.							p.A233S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTGCTGCTGCATCCCTCTGC	0.527000													51	130					1.80625e-27	2.35254e-27	1	1	0
LINC00842	643650	broad.mit.edu	37	10	47133423	47133423	+	RNA	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:47133423T>A	ENST00000422732.2	-	0	435					NR_033957.1																						TAGGCCTCCATTGCCACAGGG	0.453000													32	188					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144805	25144805	+	RNA	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr13:25144805C>A	ENST00000453498.1	+	0	346																											GGGTCCTGGTCCTGCCATGGG	0.463000													20	101					1.22384e-17	1.48529e-17	1	1	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													3	41					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20167606	20167606	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:20167606G>T	ENST00000263754.4	+	10	2077		c.e10+1			NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B						cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TCTTTGACCCGTAAGTGGTAC	0.448000													3	8					0.004672	0.00472509	1	1	0
GPR142	350383	broad.mit.edu	37	17	72368476	72368476	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:72368476G>C	ENST00000335666.4	+	4	1174	c.1126G>C	c.(1126-1128)Gtc>Ctc	p.V376L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	376						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.V376L(2)|p.V376I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCGGGTCTTCGTCATGCTCTA	0.662000													26	59					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102508881	102508881	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:102508881A>G	ENST00000321521.9	+	20	2882	c.2309A>G	c.(2308-2310)gAa>gGa	p.E770G	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.E770G|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.E770G|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	770					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.E770G(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTAAAGCTGAAAAACTGGAG	0.338000													62	29					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													5	44					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686420	108686420	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:108686420A>G	ENST00000312143.7	-	3	683	c.320T>C	c.(319-321)tTc>tCc	p.F107S	CMKLR1_ENST00000552995.1_Missense_Mutation_p.F105S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.F107S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.F107S|CMKLR1_ENST00000397688.2_Missense_Mutation_p.F105S	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	107					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.F105S(2)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGCTGTCCCGAAAACCCAGTG	0.517000													117	285					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154060	22154060	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:22154060C>A	ENST00000397126.4	-	4	3924	c.3776G>T	c.(3775-3777)gGc>gTc	p.G1259V	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.G1131V(4)|p.G1259V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAGGCTTTGCCACATTCTTC	0.378000													20	71					1.15919e-05	1.21851e-05	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55129867	55129867	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:55129867C>T	ENST00000257290.5	+	4	732	c.401C>T	c.(400-402)aCg>aTg	p.T134M	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Missense_Mutation_p.T134M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	134	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.T134M(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTAGGAATGACGGATTATTTA	0.408000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			94	231					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452538	58452538	+	Silent	SNP	A	A	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:58452538A>T	ENST00000282308.3	-	3	1834	c.1638T>A	c.(1636-1638)ccT>ccA	p.P546P	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	546					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P546P(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TGCACTCATAAGGCCTTTCTC	0.453000													6	110					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947310	237947310	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:237947310G>A	ENST00000366574.2	+	90	12615	c.12298G>A	c.(12298-12300)Gtc>Atc	p.V4100I	RYR2_ENST00000360064.6_Missense_Mutation_p.V4106I|RYR2_ENST00000542537.1_Missense_Mutation_p.V4084I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4100					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V4098I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACGTCGCCGTCCTTCTGAC	0.502000													11	55					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719811	140719811	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:140719811A>G	ENST00000394576.2	+	1	1273	c.1273A>G	c.(1273-1275)Aaa>Gaa	p.K425E	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.K425E(4)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAACCGCTAAAGATGGAGG	0.488000													46	83					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34648810	34648810	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr15:34648810T>C	ENST00000537011.1	+	8	2983	c.2601T>C	c.(2599-2601)ggT>ggC	p.G867G	NUTM1_ENST00000333756.4_Silent_p.G839G|NUTM1_ENST00000438749.3_Silent_p.G857G					NUT midline carcinoma, family member 1									p.G839G(2)									GGGCAGAAGGTTGCTTCCCAT	0.522000													22	150					0	0	1	0	0
NEU3	10825	broad.mit.edu	37	11	74716538	74716538	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:74716538G>A	ENST00000532963.1	+	2	302	c.175G>A	c.(175-177)Gag>Aag	p.E59K	NEU3_ENST00000529024.1_Missense_Mutation_p.E59K|NEU3_ENST00000294064.4_Silent_p.K129K|NEU3_ENST00000531509.1_Silent_p.K129K|NEU3_ENST00000544263.1_Silent_p.K96K|NEU3_ENST00000545272.1_Silent_p.K20K			A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	0								p.K129K(4)		kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GGGAGCAGAAGAGTGGTTGTG	0.562000													28	68					0	0	1	0	0
C7orf25	79020	broad.mit.edu	37	7	42950014	42950014	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:42950014G>A	ENST00000350427.4	-	2	761	c.486C>T	c.(484-486)aaC>aaT	p.N162N	C7orf25_ENST00000438029.1_Silent_p.N162N|C7orf25_ENST00000431882.2_Silent_p.N220N|C7orf25_ENST00000447342.1_Silent_p.N162N|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	162								p.N162N(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TGATGTGAGGGTTGCTATACT	0.502000													5	94					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531939	92531939	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:92531939C>G	ENST00000298047.6	+	9	5777	c.5760C>G	c.(5758-5760)taC>taG	p.Y1920*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y1920*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y1770*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1920	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.Y1920*(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACTGACATACAGCCTAATGG	0.418000										TCGA Ovarian(4;0.039)			38	63					0	0	1	0	0
RHEBL1	121268	broad.mit.edu	37	12	49463563	49463563	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:49463563C>A	ENST00000301068.6	-	1	245	c.6G>T	c.(4-6)ccG>ccT	p.P2P		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	2					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding	p.P2P(2)		breast(2)|large_intestine(2)|lung(5)	9						AGCGGACTAGCGGCATGGCAG	0.647000													10	16					7.03913e-09	7.76631e-09	1	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254445	30254445	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:30254445C>A	ENST00000361644.2	+	5	1141	c.404C>A	c.(403-405)gCa>gAa	p.A135E	MAGEB3_ENST00000378986.1_Missense_Mutation_p.A135E	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	135	MAGE.							p.A135E(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						ATTATGAAAGCAGATATGCTA	0.383000													67	119					5.02462e-34	6.91533e-34	1	1	0
EMR1	2015	broad.mit.edu	37	19	6935052	6935052	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:6935052A>T	ENST00000312053.4	+	18	2381	c.2344A>T	c.(2344-2346)Agt>Tgt	p.S782C	EMR1_ENST00000381404.4_Missense_Mutation_p.S763C|EMR1_ENST00000381407.5_Missense_Mutation_p.S641C|EMR1_ENST00000450315.3_Missense_Mutation_p.S605C|EMR1_ENST00000250572.8_Missense_Mutation_p.S717C	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	782					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S782C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAGGCTTTCCAGTGTTAATGC	0.468000													70	235					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44781901	44781901	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:44781901G>C	ENST00000266534.3	+	8	1118	c.991G>C	c.(991-993)Ggg>Cgg	p.G331R	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.G227R|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	331						endoplasmic reticulum|integral to membrane		p.G331R(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TCATGAATATGGGCAATATAT	0.368000													21	48					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69034512	69034512	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:69034512G>T	ENST00000295381.3	+	5	990	c.571G>T	c.(571-573)Ggc>Tgc	p.G191C	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.G166C|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.G184C|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.G152C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.G192C	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	191	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.G185C(2)|p.G192C(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCTGGAGCACGGCCGGAATGA	0.582000													236	314					1.27626e-126	1.98117e-126	1	1	0
RMND5A	64795	broad.mit.edu	37	2	86997154	86997154	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:86997154C>G	ENST00000283632.4	+	7	1358	c.863C>G	c.(862-864)gCa>gGa	p.A288G	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	288								p.A288G(2)		kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						AGTTTCTCAGCAGGTTGTGTG	0.502000													127	234					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262398	158262398	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:158262398C>A	ENST00000368170.3	+	4	902	c.623C>A	c.(622-624)gCc>gAc	p.A208D		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	208	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.A208D(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGGCCAGAAGCCTGGCTGTCC	0.512000													92	237					1.81242e-41	2.57402e-41	1	1	0
ALS2	57679	broad.mit.edu	37	2	202593271	202593271	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:202593271C>A	ENST00000264276.6	-	15	3177	c.2805G>T	c.(2803-2805)tgG>tgT	p.W935C	ALS2_ENST00000457679.2_Missense_Mutation_p.W247C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	935	PH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	p.W935C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGAGAATGAACCAATTCACGG	0.483000													100	54					3.01496e-42	4.30478e-42	1	1	0
CPS1	1373	broad.mit.edu	37	2	211473091	211473091	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:211473091A>G	ENST00000233072.5	+	19	2395	c.2199A>G	c.(2197-2199)ccA>ccG	p.P733P	CPS1_ENST00000430249.2_Silent_p.P739P|CPS1_ENST00000451903.2_Silent_p.P282P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	733	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.P739P(2)|p.P733P(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATAGCTACCCATTGGCATTCA	0.363000													201	89					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10910395	10910395	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr21:10910395A>T	ENST00000298232.7	-	21	1674	c.1307T>A	c.(1306-1308)cTt>cAt	p.L436H	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.L454H|TPTE_ENST00000342420.5_Missense_Mutation_p.L416H	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	454	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L436H(2)|p.L454H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATGTTATCAAGTACCTATGA	0.323000													65	271					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411400	5411400	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:5411400T>A	ENST00000328611.3	+	1	794	c.772T>A	c.(772-774)Tgt>Agt	p.C258S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	258						integral to membrane	olfactory receptor activity	p.C258S(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGCTCCTCTCTGTGCTGTGCT	0.562000													29	465					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701585	23701585	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr9:23701585C>A	ENST00000397312.2	-	5	779	c.505G>T	c.(505-507)Ggg>Tgg	p.G169W	ELAVL2_ENST00000223951.6_Missense_Mutation_p.G169W|ELAVL2_ENST00000544538.1_Missense_Mutation_p.G169W|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G169W|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G198W	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	169	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.G169W(2)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CGAATAAACCCTACACCCCTT	0.433000													106	121					1.14276e-43	1.64929e-43	1	1	0
MUC17	140453	broad.mit.edu	37	7	100681561	100681561	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:100681561C>G	ENST00000306151.4	+	3	6928	c.6864C>G	c.(6862-6864)caC>caG	p.H2288Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2288	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.H2288Q(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTCAGCCACACGCTGGTGG	0.478000													140	243					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52761049	52761049	+	Silent	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:52761049C>T	ENST00000257901.3	-	1	216	c.141G>A	c.(139-141)ggG>ggA	p.G47G		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	47	Head.				epidermis development	keratin filament	protein binding|structural molecule activity	p.G47G(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCGTCAGCCCTCGGTAGC	0.682000													6	18					0	0	1	0	0
AVPR2	554	broad.mit.edu	37	X	153171455	153171455	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:153171455C>A	ENST00000358927.2	+	3	704	c.495C>A	c.(493-495)gcC>gcA	p.A165A	AVPR2_ENST00000370049.1_Silent_p.A165A|AVPR2_ENST00000337474.5_Silent_p.A165A			P30518	V2R_HUMAN	arginine vasopressin receptor 2	165					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	p.A165A(2)|p.L168fs*41(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGCTTGGGCCTTCTCGCTCC	0.662000													18	23					1.33834e-09	1.4889e-09	1	1	0
GPR50	9248	broad.mit.edu	37	X	150349744	150349744	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:150349744G>A	ENST00000218316.3	+	2	1758	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	563	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.S563S(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTGAGTCGGCCTCTAGCC	0.622000													6	243					0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219920175	219920175	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:219920175G>A	ENST00000295731.5	-	3	989	c.990C>T	c.(988-990)gcC>gcT	p.A330A		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	330					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	p.A330A(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGAGCGGGGCGTAGGCCC	0.682000													12	3					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65077169	65077169	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:65077169A>G	ENST00000380985.5	+	6	921	c.743A>G	c.(742-744)tAt>tGt	p.Y248C	NLN_ENST00000502464.1_Missense_Mutation_p.Y144C	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	248					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	p.Y248C(2)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TATCCACACTATTTCCCTGTC	0.328000													58	60					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17643134	17643134	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:17643134G>T	ENST00000335393.4	+	4	480	c.342G>T	c.(340-342)cgG>cgT	p.R114R	FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000599124.1_Silent_p.R83R|FAM129C_ENST00000300971.2_Silent_p.R114R|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000601861.1_Silent_p.R83R|FAM129C_ENST00000595684.1_Silent_p.R114R|FAM129C_ENST00000352727.3_Silent_p.R114R|FAM129C_ENST00000600871.1_Silent_p.R60R|FAM129C_ENST00000332386.5_Silent_p.R114R|FAM129C_ENST00000599164.1_Silent_p.R83R	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	114								p.R114R(4)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						ACCCACCCCGGTGGCAGCCGA	0.647000													10	16					5.50884e-06	5.81367e-06	1	1	0
GRAMD1A	57655	broad.mit.edu	37	19	35500129	35500129	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:35500129A>G	ENST00000599564.1	+	3	447	c.376A>G	c.(376-378)Acc>Gcc	p.T126A	GRAMD1A_ENST00000317991.5_Missense_Mutation_p.T39A|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.T39A|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.T39A|GRAMD1A_ENST00000598073.1_3'UTR			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	39	GRAM.					integral to membrane		p.T39A(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAACCAGGCACCATGGTGGA	0.662000													17	16					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173255	5173255	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:5173255G>A	ENST00000380367.1	-	2	762	c.345C>T	c.(343-345)ggC>ggT	p.G115G	OR52A1_ENST00000328942.1_Silent_p.G115G			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	115					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.G115G(2)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAAGGATGCCTGACTCTA	0.448000													30	48					0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48726111	48726111	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:48726111G>A	ENST00000328631.5	-	6	1099	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	292					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.F292F(4)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CATTGTGGAAGAACTGGAAAA	0.562000													12	72					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43907004	43907004	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:43907004T>C	ENST00000562955.1	+	52	7293	c.7293T>C	c.(7291-7293)ggT>ggC	p.G2431G	SZT2_ENST00000372442.1_Silent_p.G1589G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2488						peroxisome		p.G1589G(4)|p.G2431G(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGACTCCTGGTGGAGCTGAGC	0.572000													56	22					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060929	76060929	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:76060929G>A	ENST00000335749.4	+	4	3082	c.2513G>A	c.(2512-2514)gGc>gAc	p.G838D	TNRC6C_ENST00000588061.1_Missense_Mutation_p.G841D|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G841D|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G841D	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	841	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.G841D(2)|p.G838D(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCCAGCAGTGGCAGCGGGTGG	0.587000													15	140					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016506	23016506	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr20:23016506A>T	ENST00000255008.3	+	1	450	c.386A>T	c.(385-387)aAc>aTc	p.N129I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	129					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.N129I(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GACGGCCTCAACATGTTCACC	0.701000													40	18					0	0	1	0	0
CXorf61	203413	broad.mit.edu	37	X	115593061	115593061	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:115593061A>G	ENST00000371894.4	-	2	335	c.189T>C	c.(187-189)tcT>tcC	p.S63S		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	63						integral to membrane|plasma membrane		p.S63S(3)		breast(1)|large_intestine(3)|lung(8)	12						AAATATCCCGAGAGAGGTCGT	0.403000													171	483					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54742922	54742922	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:54742922C>A	ENST00000396365.2	-	8	1392	c.1353G>T	c.(1351-1353)atG>atT	p.M451I	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.M434I|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron	NM_024318.2	NP_077294.2			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.M451I(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGCCATGCCCATGCGGATGA	0.577000													31	22					6.21074e-16	7.43618e-16	1	1	0
WRAP53	55135	broad.mit.edu	37	17	7592605	7592605	+	Silent	SNP	C	C	T	rs147817526		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:7592605C>T	ENST00000316024.5	+	2	2843	c.495C>T	c.(493-495)agC>agT	p.S165S	WRAP53_ENST00000431639.2_Silent_p.S165S|WRAP53_ENST00000534050.1_Intron|WRAP53_ENST00000396463.2_Silent_p.S165S|WRAP53_ENST00000457584.2_Silent_p.S165S			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	165					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	p.S165S(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CAGAGTTCAGCACCCAACCTG	0.517000													14	28					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98449098	98449098	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:98449098C>T	ENST00000450876.1	-	6	2015	c.700G>A	c.(700-702)Gag>Aag	p.E234K	TMEM130_ENST00000546258.1_Missense_Mutation_p.E299K|TMEM130_ENST00000345589.4_Missense_Mutation_p.E216K|TMEM130_ENST00000339375.4_Missense_Mutation_p.E318K|TMEM130_ENST00000416379.2_Missense_Mutation_p.E318K			Q8N3G9	TM130_HUMAN	transmembrane protein 130	318						Golgi membrane|integral to membrane		p.E318K(2)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGATATTCTCGGCCCGGATG	0.592000													109	165					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181480554	181480554	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:181480554G>A	ENST00000526775.1	+	3	585	c.420G>A	c.(418-420)ggG>ggA	p.G140G	CACNA1E_ENST00000367573.2_Silent_p.G140G|CACNA1E_ENST00000358338.5_Silent_p.G91G|CACNA1E_ENST00000367570.1_Silent_p.G140G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Silent_p.G140G|CACNA1E_ENST00000357570.5_Silent_p.G91G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	140					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G140G(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGAAGCTGGGATCAAAATTG	0.493000													140	346					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59469394	59469394	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:59469394G>A	ENST00000588462.1	+	25	2761	c.2761G>A	c.(2761-2763)Ggc>Agc	p.G921S	BCAS3_ENST00000407086.3_Missense_Mutation_p.G884S|BCAS3_ENST00000588874.1_Missense_Mutation_p.G655S|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000390652.5_Missense_Mutation_p.G899S|BCAS3_ENST00000408905.3_Missense_Mutation_p.G906S|BCAS3_ENST00000585744.1_Missense_Mutation_p.G670S|BCAS3_ENST00000589222.1_3'UTR			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	899						nucleus		p.G899S(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTCCACCAGCGGCAGCATACC	0.582000													5	15					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171257993	171257993	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:171257993G>T	ENST00000334231.6	+	18	1948	c.1948G>T	c.(1948-1950)Gcc>Tcc	p.A650S	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.A641S|MYO3B_ENST00000409044.3_Missense_Mutation_p.A641S			Q8WXR4	MYO3B_HUMAN	myosin IIIB	641	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.A641S(4)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGTTTCAGCTGCCTCTGTTCT	0.502000													120	71					7.68471e-68	1.15271e-67	1	1	0
TNR	7143	broad.mit.edu	37	1	175331945	175331945	+	Splice_Site	SNP	A	A	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:175331945A>C	ENST00000367674.1	-	14	3416	c.2707_splice	c.e14-1	p.V903_splice	TNR_ENST00000263525.2_Splice_Site_p.V903_splice	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	903	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.V903G(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TAGTCGTCCCACTGGAGAAGA	0.488000													112	251					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578469	7578469	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:7578469C>A	ENST00000420246.2	-	5	593	c.461G>T	c.(460-462)gGc>gTc	p.G154V	TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V|TP53_ENST00000269305.4_Missense_Mutation_p.G154V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	154	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACGCGGGTGCCGGGCGGGGG	0.607000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			65	44					4.38691e-48	6.40057e-48	1	1	0
DSC2	1824	broad.mit.edu	37	18	28663009	28663009	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr18:28663009C>A	ENST00000280904.6	-	8	1403	c.960G>T	c.(958-960)caG>caT	p.Q320H	DSC2_ENST00000251081.6_Missense_Mutation_p.Q320H	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	320	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.Q320H(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTATTTTCAACTGGTACTTGT	0.299000													11	59					0.00010058	0.000102499	1	1	0
TENM2	57451	broad.mit.edu	37	5	167489067	167489067	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:167489067C>A	ENST00000519204.1	+	6	1067	c.949C>A	c.(949-951)Ccc>Acc	p.P317T	TENM2_ENST00000520394.1_Missense_Mutation_p.P206T|TENM2_ENST00000545108.1_Missense_Mutation_p.P438T|TENM2_ENST00000518659.1_Missense_Mutation_p.P438T|TENM2_ENST00000403607.2_Missense_Mutation_p.P271T					teneurin transmembrane protein 2									p.P271T(1)|p.P317T(1)|p.P438T(1)									TTTTTCAGTGCCCTGGTCGTT	0.408000													9	35					1.08611e-07	1.15618e-07	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31273080	31273080	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:31273080G>T	ENST00000544665.3	+	2	167	c.96G>T	c.(94-96)agG>agT	p.R32S	ITGAM_ENST00000287497.8_Missense_Mutation_p.R32S	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	32					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.R32S(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGAACGCAAGGGGCTTCGGGC	0.517000													16	39					2.94398e-08	3.1594e-08	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123229169	123229169	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:123229169C>A	ENST00000264501.4	+	58	10280	c.9907C>A	c.(9907-9909)Cat>Aat	p.H3303N	KIAA1109_ENST00000455637.1_Missense_Mutation_p.H3303N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H3303N			Q2LD37	K1109_HUMAN	KIAA1109	3303					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.H3303N(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATGGCTTTACATAAGGATAT	0.413000													56	129					2.19297e-23	2.88031e-23	1	1	0
NFATC2	4773	broad.mit.edu	37	20	50092041	50092041	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr20:50092041T>C	ENST00000371564.3	-	4	1708	c.1489A>G	c.(1489-1491)Aaa>Gaa	p.K497E	NFATC2_ENST00000414705.1_Missense_Mutation_p.K477E|NFATC2_ENST00000396009.3_Missense_Mutation_p.K497E	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	497	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.K497E(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCCAGGACTTTGGTGTTGCCC	0.572000													118	125					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140380905	140380905	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:140380905G>C	ENST00000072869.4	+	4	1451	c.1273G>C	c.(1273-1275)Gca>Cca	p.A425P	ADCK2_ENST00000476491.1_Missense_Mutation_p.A425P	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	425	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity	p.A425P(2)		cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AAGGAAGATTGCACGGCTGGG	0.567000													25	63					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154158393	154158393	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:154158393G>T	ENST00000360256.4	-	14	3872	c.3672C>A	c.(3670-3672)atC>atA	p.I1224I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1224	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.I1224I(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATTCTCTTGGATTAATGTTT	0.313000													13	38					2.27111e-07	2.40792e-07	1	1	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													10	124					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156845459	156845459	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:156845459G>T	ENST00000368196.3	+	11	1603		c.e11+1		NTRK1_ENST00000524377.1_Splice_Site|NTRK1_ENST00000358660.3_Splice_Site|NTRK1_ENST00000392302.2_Splice_Site	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1						activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.?(4)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	AGTGATGCCTGTGAGGGGCTA	0.577000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			43	93					2.68985e-26	3.64164e-26	1	1	0
AKR1B15	441282	broad.mit.edu	37	7	134261164	134261164	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:134261164C>A	ENST00000457545.2	+	9	1067	c.807C>A	c.(805-807)caC>caA	p.H269Q	AKR1B15_ENST00000423958.1_Missense_Mutation_p.H241Q	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	269							oxidoreductase activity	p.H269Q(2)|p.H241Q(2)|p.H287Q(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTGCAAAGCACAAAAAAACCA	0.443000													15	76					0.00244969	0.00249699	1	1	0
C3orf27	23434	broad.mit.edu	37	3	128292256	128292256	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:128292256T>C	ENST00000356020.2	-	3	1283	c.317A>G	c.(316-318)cAc>cGc	p.H106R		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	106								p.H106R(2)		large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		AGGCCCACAGTGGCACAGCAG	0.577000													73	144					0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64695897	64695897	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:64695897G>T	ENST00000164133.2	+	6	1344	c.722_splice	c.e6+1	p.R241_splice		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	241					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R241L(2)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						ATCTTCCTCCGGTGAGTGGCT	0.607000													61	124					1.53276e-45	2.3526e-45	1	1	0
FAT3	120114	broad.mit.edu	37	11	92623916	92623916	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:92623916C>A	ENST00000298047.6	+	27	13424	c.13407C>A	c.(13405-13407)tcC>tcA	p.S4469S	FAT3_ENST00000533797.1_Silent_p.S772S|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Silent_p.S4319S|FAT3_ENST00000409404.2_Silent_p.S4437S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4469	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S1044S(2)|p.S4437S(2)|p.S4469S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCCACCCTCCCAGCCTGTCT	0.592000										TCGA Ovarian(4;0.039)			18	32					2.35188e-11	2.63092e-11	1	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361828	105361828	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:105361828C>G	ENST00000369774.4	-	15	3423	c.3147G>C	c.(3145-3147)caG>caC	p.Q1049H	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.Q884H|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.Q916H|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.Q1021H|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1049					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	p.Q1021H(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TGCTGTTGCGCTGGGCGGGCA	0.622000													128	160					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110496262	110496262	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:110496262A>G	ENST00000324068.1	-	4	647	c.480T>C	c.(478-480)aaT>aaC	p.N160N	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	160	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.N160N(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCAGCAGAGCATTCCAAAACT	0.428000													47	115					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10382279	10382279	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:10382279G>A	ENST00000397077.1	-	19	3467	c.2892C>T	c.(2890-2892)aaC>aaT	p.N964N	ATP2B2_ENST00000352432.4_Silent_p.N1009N|ATP2B2_ENST00000383800.4_Silent_p.N964N|ATP2B2_ENST00000360273.2_Silent_p.N1009N|ATP2B2_ENST00000343816.4_Silent_p.N995N			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1009					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.N1009N(2)|p.N964N(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTTGATCTCGTTGAAGAGCT	0.562000													44	175					0	0	1	0	0
NUP43	348995	broad.mit.edu	37	6	150057694	150057694	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:150057694T>C	ENST00000340413.2	-	6	779	c.703A>G	c.(703-705)Act>Gct	p.T235A	NUP43_ENST00000460354.2_Missense_Mutation_p.T235A|NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Intron	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	235					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	p.T235A(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)		TGGCCACCAGTAGCTACAACA	0.438000													27	101					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060929	76060929	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:76060929G>A	ENST00000335749.4	+	4	3082	c.2513G>A	c.(2512-2514)gGc>gAc	p.G838D	TNRC6C_ENST00000544502.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G838D|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G841D|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G841D|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G841D	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	841	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.G841D(2)|p.G838D(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCCAGCAGTGGCAGCGGGTGG	0.587000													30	209					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112018498	112018498	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr9:112018498C>A	ENST00000374566.3	-	9	1364	c.847G>T	c.(847-849)Gat>Tat	p.D283Y	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.D283Y	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	283	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.D283Y(4)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCACAGCCATCTCTTCCCTAC	0.398000													36	82					1.0096e-33	1.43298e-33	1	1	0
TTN	7273	broad.mit.edu	37	2	179472803	179472803	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:179472803G>A	ENST00000589042.1	-	276	52935	c.52711C>T	c.(52711-52713)Cct>Tct	p.P17571S	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P15003S|TTN_ENST00000342175.6_Missense_Mutation_p.P8698S|TTN_ENST00000359218.5_Missense_Mutation_p.P8631S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P15930S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P8506S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15930	Fibronectin type-III 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGCCCAGGAGGAGCTAGA	0.423000													3	36					0	0	1	0	0
QPRT	23475	broad.mit.edu	37	16	29708623	29708623	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:29708623C>A	ENST00000395384.4	+	4	946	c.785C>A	c.(784-786)cCg>cAg	p.P262Q	QPRT_ENST00000562473.1_Missense_Mutation_p.P114Q|QPRT_ENST00000219771.7_3'UTR	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	262					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity	p.P262Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	TTCTGCGGGCCGCACATAGAC	0.632000													82	84					6.04451e-25	8.01885e-25	1	1	0
THBS2	7058	broad.mit.edu	37	6	169623382	169623382	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:169623382G>T	ENST00000366787.3	-	19	3211	c.2962C>A	c.(2962-2964)Ctg>Atg	p.L988M	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	988	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.L988M(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GTCTGAACCAGCTCCTTGCCT	0.582000													49	124					7.77092e-38	1.15254e-37	1	1	0
AGMO	392636	broad.mit.edu	37	7	15601381	15601381	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:15601381G>C	ENST00000342526.3	-	1	259	c.90C>G	c.(88-90)ttC>ttG	p.F30L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	30					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.F30L(2)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CTAATGTTTGGAATGAAGTTT	0.403000													29	75					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811180	5811180	+	Missense_Mutation	SNP	C	C	G	rs4017999		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:5811180C>G	ENST00000381095.3	-	6	2756	c.2129G>C	c.(2128-2130)cGc>cCc	p.R710P	NLGN4X_ENST00000538097.1_Missense_Mutation_p.R710P|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R710P|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R710P|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R730P	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	710					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.R710P(2)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGGACTGGGGCGCCTGTGAGT	0.532000													50	141					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104709469	104709469	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr8:104709469G>C	ENST00000406091.3	+	2	332	c.332G>C	c.(331-333)tGc>tCc	p.C111S		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	142	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.C111S(2)|p.C147S(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTCATATTGCCAAACAAAG	0.423000										HNSCC(12;0.0054)			50	219					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899874	151899874	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:151899874A>G	ENST00000393900.3	-	3	1280	c.927T>C	c.(925-927)ttT>ttC	p.F309F	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Silent_p.F309F|MAGEA12_ENST00000393869.3_Silent_p.F309F	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	309								p.F309F(2)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCTCTCTAAAAGCCCATT	0.557000													131	282					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72038818	72038818	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:72038818T>A	ENST00000378743.3	-	4	1476	c.1118A>T	c.(1117-1119)cAg>cTg	p.Q373L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	373					RNA processing	intracellular	metal ion binding	p.Q373L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAGGCGAAGCTGTAATTCAGA	0.333000													11	37					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35913820	35913820	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:35913820C>T	ENST00000339208.6	-	14	2145	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N	SYNRG_ENST00000591288.1_Missense_Mutation_p.D508N|SYNRG_ENST00000502449.2_Missense_Mutation_p.D591N|SYNRG_ENST00000345615.4_Missense_Mutation_p.D591N|SYNRG_ENST00000394378.2_Missense_Mutation_p.D591N|SYNRG_ENST00000346661.4_Missense_Mutation_p.D669N|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Missense_Mutation_p.D590N	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	669	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCCAAAATCATCAGCCAAA	0.413000													7	125					0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785501	134785501	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:134785501G>T	ENST00000537858.1	-	2	329	c.129C>A	c.(127-129)gaC>gaA	p.D43E		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	43	FHA.							p.D43E(2)		breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGGTGGGCGTCCTGCCCCC	0.657000													90	49					2.08528e-44	3.16387e-44	1	1	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													8	164					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1427297	1427297	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:1427297C>A	ENST00000446702.2	+	20	3147	c.2520C>A	c.(2518-2520)gtC>gtA	p.V840V	CNTN6_ENST00000350110.2_Silent_p.V840V|CNTN6_ENST00000539053.1_Silent_p.V768V			Q9UQ52	CNTN6_HUMAN	contactin 6	840	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.V840V(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTATCAGGTCTTATACTGGA	0.358000													12	83					0.00136819	0.00140001	1	1	0
SIMC1	375484	broad.mit.edu	37	5	175763780	175763780	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:175763780C>A	ENST00000443967.1	+	10	2579	c.2172C>A	c.(2170-2172)atC>atA	p.I724I	SIMC1_ENST00000430704.2_Silent_p.I309I|SIMC1_ENST00000341199.6_Silent_p.I309I|SIMC1_ENST00000332772.4_Silent_p.I185I					SUMO-interacting motifs containing 1									p.I724I(2)									TGTTAGAAATCATATTCCTCC	0.483000													188	84					1.94348e-87	3.10956e-87	1	1	0
NAV2	89797	broad.mit.edu	37	11	19955796	19955796	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:19955796C>A	ENST00000396085.1	+	7	2367	c.2006C>A	c.(2005-2007)aCt>aAt	p.T669N	NAV2_ENST00000540292.1_Missense_Mutation_p.T623N|NAV2_ENST00000349880.4_Missense_Mutation_p.T669N|NAV2_ENST00000396087.3_Missense_Mutation_p.T692N|NAV2_ENST00000360655.4_Missense_Mutation_p.T605N|NAV2_ENST00000527559.2_Missense_Mutation_p.T621N	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	692						nucleus	ATP binding|helicase activity	p.T692N(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CATCCCAACACTGCCACGGTT	0.552000													32	80					1.08312e-15	1.29386e-15	1	1	0
HAUS4	54930	broad.mit.edu	37	14	23421768	23421768	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr14:23421768T>C	ENST00000206474.7	-	3	432	c.180A>G	c.(178-180)ctA>ctG	p.L60L	RP11-298I3.5_ENST00000555074.1_Intron|HAUS4_ENST00000397409.4_Silent_p.L60L|HAUS4_ENST00000555986.1_Silent_p.L60L|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000490506.1_Intron|HAUS4_ENST00000541587.1_Silent_p.L60L|HAUS4_ENST00000555367.1_Silent_p.L60L|HAUS4_ENST00000342454.8_Silent_p.L60L|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000347758.2_Silent_p.L60L			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	60					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.L60L(2)		breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GCTCCTTTGCTAGGGTGAGGC	0.468000													99	165					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34312507	34312507	+	Silent	SNP	G	G	A	rs143306375		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:34312507G>A	ENST00000373381.4	-	6	1187	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	297						integral to membrane|plasma membrane	protein binding	p.R297R(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTGAATCCGCGCTGCCGGT	0.607000													113	61					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44781901	44781901	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:44781901G>C	ENST00000266534.3	+	8	1118	c.991G>C	c.(991-993)Ggg>Cgg	p.G331R	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.G227R|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	331						endoplasmic reticulum|integral to membrane		p.G331R(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TCATGAATATGGGCAATATAT	0.368000													11	37					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18845963	18845963	+	RNA	SNP	C	C	T	rs144351257	by1000genomes	TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr22:18845963C>T	ENST00000412938.1	+	0	3321																											GATCTCATCGCGGACACCACT	0.517000													11	114					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129264072	129264072	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:129264072G>A	ENST00000287295.3	-	15	1873	c.1643C>T	c.(1642-1644)cCg>cTg	p.P548L	AIFM1_ENST00000346424.2_Missense_Mutation_p.P261L|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.P544L|AIFM1_ENST00000460436.2_Missense_Mutation_p.P209L|AIFM1_ENST00000440263.1_Missense_Mutation_p.P196L	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	548					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.P544L(2)|p.P548L(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TGGAACTGCCGGGGTGCTGGG	0.542000													236	501					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141259374	141259374	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:141259374G>T	ENST00000286364.3	+	5	485		c.e5-1		RASA2_ENST00000452898.1_Splice_Site			Q15283	RASA2_HUMAN	RAS p21 protein activator 2						intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	p.?(4)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGTCATTATAGGGTAAAGTTC	0.328000													10	19					5.50884e-06	5.74835e-06	1	1	0
GABRA5	2558	broad.mit.edu	37	15	27128556	27128556	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr15:27128556C>T	ENST00000335625.5	+	6	1237	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	GABRA5_ENST00000400081.3_Missense_Mutation_p.R117C|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.R117C	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	117					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R117C(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCCATGCAGCGCCTCCCTCT	0.537000													67	145					0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30327006	30327006	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:30327006C>A	ENST00000378970.4	-	1	709	c.475G>T	c.(475-477)Gct>Tct	p.A159S	NR0B1_ENST00000453287.1_Missense_Mutation_p.A159S	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	159	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	p.A159S(2)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCTGCCGGAGCCACGTGCGTT	0.677000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	43					1.96292e-10	2.18655e-10	1	1	0
SEC24D	9871	broad.mit.edu	37	4	119659495	119659495	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:119659495C>A	ENST00000379735.5	-	19	2691	c.2420G>T	c.(2419-2421)cGg>cTg	p.R807L	SEC24D_ENST00000419654.2_Missense_Mutation_p.R362L|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Missense_Mutation_p.R362L|SEC24D_ENST00000511481.1_Missense_Mutation_p.R437L|SEC24D_ENST00000280551.6_Missense_Mutation_p.R806L	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	806					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.R806L(2)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TAGAATTTCCCGGATGACCTT	0.423000													38	78					1.49673e-21	1.9275e-21	1	1	0
EMC1	23065	broad.mit.edu	37	1	19564614	19564614	+	Missense_Mutation	SNP	T	T	C	rs144675935		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:19564614T>C	ENST00000477853.1	-	11	1151	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S	EMC1_ENST00000375199.3_Missense_Mutation_p.N369S|EMC1_ENST00000375208.3_Missense_Mutation_p.N348S|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1									p.N370S(2)									GTAGGTCTGATTGAAGCAAGC	0.547000													20	60					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65420411	65420411	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:65420411C>T	ENST00000519389.1	+	12	2235	c.2056C>T	c.(2056-2058)Ccc>Tcc	p.P686S	HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.P635S|HEPH_ENST00000374727.3_Missense_Mutation_p.P635S|HEPH_ENST00000336279.5_Missense_Mutation_p.P365S|HEPH_ENST00000343002.2_Missense_Mutation_p.P632S			Q9BQS7	HEPH_HUMAN	hephaestin	632	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.P632S(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTCTAACCTGCCCAGGCTGGA	0.547000													21	29					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071071	9071071	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:9071071G>T	ENST00000397910.4	-	3	16578	c.16375C>A	c.(16375-16377)Ctg>Atg	p.L5459M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5461	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L5459M(4)|p.L1092M(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTCCCCCAGGGTGGAGGTG	0.498000													61	221					1.44317e-28	1.98436e-28	1	1	0
CYP4F22	126410	broad.mit.edu	37	19	15651310	15651310	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:15651310G>T	ENST00000269703.2	+	8	920	c.721G>T	c.(721-723)Gtc>Ttc	p.V241F	CYP4F22_ENST00000601005.2_Missense_Mutation_p.V241F	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	241						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.V241F(2)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGCTCTGTCTGTCCGGCGCCA	0.557000													37	125					4.65686e-17	5.66549e-17	1	1	0
MTR	4548	broad.mit.edu	37	1	237052487	237052487	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:237052487C>T	ENST00000366577.5	+	28	3252	c.2858C>T	c.(2857-2859)cCc>cTc	p.P953L	MTR_ENST00000535889.1_Missense_Mutation_p.P902L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	953	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.P953L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTAGTGAAGCCCACGTTTATT	0.557000													74	215					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40798230	40798230	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:40798230C>A	ENST00000397128.2	-	1	70	c.62G>T	c.(61-63)cGg>cTg	p.R21L	PRKAA1_ENST00000354209.3_Missense_Mutation_p.R21L|PRKAA1_ENST00000296800.4_Missense_Mutation_p.R12L	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	21					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	p.R21L(2)		breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	GATCTTCACCCGCCCGTCGTG	0.667000													22	47					2.47511e-08	2.66705e-08	1	1	0
B4GALNT1	2583	broad.mit.edu	37	12	58023958	58023958	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:58023958T>C	ENST00000341156.4	-	6	1273	c.689A>G	c.(688-690)tAc>tGc	p.Y230C	B4GALNT1_ENST00000449184.3_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.Y230C|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.Y175C|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.Y230C	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	230					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.Y230C(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTTGGTCTGGTAGCTTCGGCT	0.572000													21	103					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37126007	37126007	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr20:37126007G>T	ENST00000262879.6	+	4	685	c.401G>T	c.(400-402)gGt>gTt	p.G134V	RALGAPB_ENST00000397040.1_Missense_Mutation_p.G134V|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000537204.1_Missense_Mutation_p.G134V|RALGAPB_ENST00000397042.3_Missense_Mutation_p.G134V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	134					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.G134V(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGGAACAGGGTTCCAGTCAG	0.498000													34	47					1.56442e-22	2.03451e-22	1	1	0
EXOSC7	23016	broad.mit.edu	37	3	45038682	45038682	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:45038682G>T	ENST00000265564.7	+	4	406	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	120					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding	p.D120Y(2)		endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		AAGCAGTGTCGACTTAAAGAC	0.488000													59	111					7.47603e-22	9.67486e-22	1	1	0
TLR6	10333	broad.mit.edu	37	4	38831004	38831004	+	Nonsense_Mutation	SNP	C	C	A	rs138225547		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:38831004C>A	ENST00000436693.2	-	2	210	c.91G>T	c.(91-93)Gga>Tga	p.G31*	TLR6_ENST00000381950.1_Nonsense_Mutation_p.G31*	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	31					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	p.G31*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTCATTTCCGTCGGAGAAC	0.373000													68	143					2.49587e-40	3.7652e-40	1	1	0
FLNC	2318	broad.mit.edu	37	7	128496848	128496848	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:128496848C>A	ENST00000325888.8	+	45	7695	c.7434C>A	c.(7432-7434)atC>atA	p.I2478I	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.I2445I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2478	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.I2478I(2)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCACTCCATCGATGTCAAGT	0.592000													35	66					4.14481e-20	5.26072e-20	1	1	0
GABBR2	9568	broad.mit.edu	37	9	101235551	101235551	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr9:101235551C>A	ENST00000259455.2	-	6	1335	c.876G>T	c.(874-876)caG>caT	p.Q292H	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	292					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.Q292H(2)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CCGTGTGCACCTGCTCCCACC	0.537000													40	57					1.91236e-09	2.09486e-09	1	1	0
CDH23	64072	broad.mit.edu	37	10	73270728	73270728	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:73270728C>A	ENST00000224721.6	+	4	311	c.306C>A	c.(304-306)acC>acA	p.T102T	CDH23_ENST00000398809.4_Silent_p.T102T|CDH23_ENST00000398842.3_Silent_p.T102T|CDH23_ENST00000461841.3_Silent_p.T147T|CDH23_ENST00000299366.7_Silent_p.T147T|CDH23-AS1_ENST00000428918.1_RNA	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	102	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.T102T(4)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGAGTTCACCGTGGAGTTCT	0.617000													60	140					4.79706e-38	7.15494e-38	1	1	0
NRK	203447	broad.mit.edu	37	X	105189911	105189911	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:105189911T>C	ENST00000428173.2	+	25	4413	c.4110T>C	c.(4108-4110)taT>taC	p.Y1370Y	NRK_ENST00000243300.9_Silent_p.Y1369Y			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1369	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Y1369Y(2)|p.Y1370Y(2)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACATGTCCTATCAAGCCTATA	0.438000										HNSCC(51;0.14)			5	33					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988081	113988081	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr8:113988081C>A	ENST00000297405.5	-	7	1571	c.1327G>T	c.(1327-1329)Gtt>Ttt	p.V443F	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.V443F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V403F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	443						integral to membrane|plasma membrane		p.V403F(2)|p.V443F(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAGTAACAACTGCAAGCTCT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	86					6.04164e-23	7.89601e-23	1	1	0
C10orf71	118461	broad.mit.edu	37	10	50531828	50531828	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:50531828C>T	ENST00000374144.3	+	3	1526	c.1238C>T	c.(1237-1239)aCa>aTa	p.T413I	C10orf71_ENST00000323868.4_Missense_Mutation_p.T413I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	413								p.T413I(2)		endometrium(1)	1						CCTTTGTATACAAAACACAAC	0.438000													11	171					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248757058	248757058	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:248757058G>T	ENST00000330500.2	-	1	42	c.12C>A	c.(10-12)gcC>gcA	p.A4A		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A4A(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGTCTGGTTGGCCAGCCGCA	0.458000													23	64					2.27525e-19	2.83333e-19	1	1	0
OTUD7B	56957	broad.mit.edu	37	1	149915924	149915924	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:149915924C>A	ENST00000369135.3	-	12	2658	c.2364G>T	c.(2362-2364)tgG>tgT	p.W788C		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	788					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	p.W788C(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GACCTCCAGCCCATCCATCTG	0.547000													64	209					2.43698e-19	3.02048e-19	1	1	0
EPX	8288	broad.mit.edu	37	17	56270454	56270454	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:56270454G>C	ENST00000225371.5	+	2	242	c.132G>C	c.(130-132)aaG>aaC	p.K44N		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	44					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.K44N(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CAGAGGCCAAGTTGCTGGTGG	0.617000													112	269					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55361675	55361675	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:55361675C>A	ENST00000290552.7	+	4	1923	c.591C>A	c.(589-591)ttC>ttA	p.F197L	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	197						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F197L(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCACCTGGTTCGCCAACGCAC	0.577000													61	167					6.25564e-26	8.38319e-26	1	1	0
IDS	3423	broad.mit.edu	37	X	148564704	148564704	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:148564704G>A	ENST00000340855.6	-	9	1435	c.1226C>T	c.(1225-1227)aCg>aTg	p.T409M	IDS_ENST00000541269.1_Missense_Mutation_p.T198M|IDS_ENST00000537071.1_Missense_Mutation_p.T12M|AF011889.5_ENST00000422081.1_RNA	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	409						lysosome	iduronate-2-sulfatase activity|metal ion binding	p.T409M(2)		NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCAGCCAGCGTGGGAAAAAG	0.512000													43	110					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89920950	89920950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:89920950G>T	ENST00000405460.2	+	6	658	c.562G>T	c.(562-564)Gag>Tag	p.E188*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	188					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.E188*(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTGCAGGTAGAGGGTGGCCC	0.393000													18	13					6.94344e-10	7.66974e-10	1	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64133210	64133210	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:64133210G>T	ENST00000295902.6	-	7	1541	c.956C>A	c.(955-957)tCt>tAt	p.S319Y	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S375Y	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	319						cytoplasm|nuclear membrane	zinc ion binding	p.S319Y(2)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGAGGAGTCAGAACCATTGGG	0.607000													65	294					1.43987e-31	2.00066e-31	1	1	0
OR14I1	401994	broad.mit.edu	37	1	248845133	248845133	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:248845133G>T	ENST00000342623.3	-	1	496	c.473C>A	c.(472-474)aCt>aAt	p.T158N		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T158N(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CATGTTGCCAGTGTGGACGGC	0.547000													21	65					2.39556e-15	2.84878e-15	1	1	0
BPI	671	broad.mit.edu	37	20	36964032	36964032	+	Missense_Mutation	SNP	C	C	A	rs143433981		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr20:36964032C>A	ENST00000262865.4	+	14	1470	c.1381C>A	c.(1381-1383)Ccg>Acg	p.P461T	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	461					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.P461T(2)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCTCCCGACGCCGGCCAGAGT	0.562000													72	103					4.81439e-37	7.10056e-37	1	1	0
SSTR4	6754	broad.mit.edu	37	20	23016506	23016506	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr20:23016506A>T	ENST00000255008.3	+	1	450	c.386A>T	c.(385-387)aAc>aTc	p.N129I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	129					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.N129I(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GACGGCCTCAACATGTTCACC	0.701000													169	109					0	0	1	0	0
C14orf105	55195	broad.mit.edu	37	14	57960335	57960335	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr14:57960335A>G	ENST00000216445.3	-	1	235	c.99T>C	c.(97-99)ttT>ttC	p.F33F	C14orf105_ENST00000526336.1_Silent_p.F33F|C14orf105_ENST00000534126.1_Silent_p.F33F|C14orf105_ENST00000422976.2_Silent_p.F33F	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	33								p.F33F(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						GATTGAATGCAAAGTCCACAC	0.463000													34	103					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000													5	263					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69882001	69882001	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:69882001C>T	ENST00000358913.5	+	2	1294	c.806C>T	c.(805-807)cCc>cTc	p.P269L	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.P269L|MYPN_ENST00000373675.3_Missense_Mutation_p.P269L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	269	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding	p.P269L(2)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGGCAACCTCCCCGGTTCACT	0.527000													24	117					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55716908	55716908	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:55716908G>T	ENST00000376350.3	-	4	427	c.405C>A	c.(403-405)atC>atA	p.I135I	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	135	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.I135I(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGGTCAGGGCGATGGAGCTGT	0.587000													73	78					1.07363e-35	1.54884e-35	1	1	0
STX18	53407	broad.mit.edu	37	4	4458978	4458978	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:4458978C>G	ENST00000306200.2	-	5	500	c.437G>C	c.(436-438)tGt>tCt	p.C146S	STX18_ENST00000505286.1_Missense_Mutation_p.C146S	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	146					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity	p.C146S(2)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		GTAAAGTTTACATACTCCTGT	0.353000													22	46					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3684492	3684492	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr20:3684492G>A	ENST00000344754.4	-	4	952	c.953C>T	c.(952-954)cCc>cTc	p.P318L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P318L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	318	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P318L(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GAGGCTGATGGGGGGTGAGAC	0.612000													51	76					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124731954	124731954	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:124731954G>A	ENST00000311127.4	-	6	2536	c.2469C>T	c.(2467-2469)tcC>tcT	p.S823S		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	823						extracellular region|integral to membrane	calcium ion binding	p.S823S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TTTGCTCTGTGGAGGACTCTG	0.478000													86	172					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049524	11049524	+	RNA	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr21:11049524G>T	ENST00000470054.1	-	0	584									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTGTATCCAGGCACATTCCAT	0.458000													62	134					1.20111e-47	1.86526e-47	1	1	0
KDM3B	51780	broad.mit.edu	37	5	137722285	137722285	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:137722285G>A	ENST00000314358.5	+	7	1555	c.1355G>A	c.(1354-1356)gGc>gAc	p.G452D	KDM3B_ENST00000394866.1_Missense_Mutation_p.G108D|KDM3B_ENST00000542866.1_5'UTR	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	452					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.G452D(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAACAGAAAGGCAGCCGGTCG	0.527000													50	164					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47699995	47699995	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr21:47699995T>C	ENST00000397708.1	-	5	1833	c.1579A>G	c.(1579-1581)Agc>Ggc	p.S527G	MCM3AP_ENST00000291688.1_Missense_Mutation_p.S527G			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	527					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.S527G(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GTGCTCGGGCTGACTTCACCG	0.532000													108	228					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144855788	144855788	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:144855788C>A	ENST00000369359.4	-	44	7211	c.7173G>T	c.(7171-7173)tgG>tgT	p.W2391C	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.W2340C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.W2255C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.W2255C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.W2149C|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2255					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.W2255C(4)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGCCGCTCTCCAGAACATGG	0.582000			T	PDGFRB	MPD								38	155					2.32173e-10	2.57537e-10	1	1	0
OR2T2	401992	broad.mit.edu	37	1	248616139	248616139	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:248616139T>G	ENST00000342927.3	+	1	63	c.41T>G	c.(40-42)gTc>gGc	p.V14G		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V14S(2)|p.V14A(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACTAACTTCGTCCTCACAGGC	0.502000													40	197					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78325854	78325854	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:78325854C>A	ENST00000255189.3	-	11	1715	c.1687G>T	c.(1687-1689)Ggt>Tgt	p.G563C	DMGDH_ENST00000540686.1_Missense_Mutation_p.G183C|DMGDH_ENST00000380311.4_Missense_Mutation_p.G362C	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	563					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.G563C(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTTGTAAAACCCACCTACATA	0.348000													15	48					5.01169e-05	5.16831e-05	1	1	0
CCDC129	223075	broad.mit.edu	37	7	31690852	31690852	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:31690852C>T	ENST00000319386.3	+	12	3229	c.2236C>T	c.(2236-2238)Ctc>Ttc	p.L746F	CCDC129_ENST00000451887.2_Missense_Mutation_p.L920F|CCDC129_ENST00000409210.1_Missense_Mutation_p.L802F|CCDC129_ENST00000407970.3_Missense_Mutation_p.L894F			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	894								p.L894F(2)|p.L746F(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACAGCAGGCCCTCTTTTCCAG	0.473000													48	109					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059153	248059153	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:248059153G>T	ENST00000537741.1	+	3	522	c.265G>T	c.(265-267)Gac>Tac	p.D89Y	OR2W3_ENST00000360358.3_Missense_Mutation_p.D89Y			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D89Y(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TAATGGATGTGACAAGACCAT	0.567000													94	171					6.83469e-46	1.05518e-45	1	1	0
BTK	695	broad.mit.edu	37	X	100613339	100613339	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:100613339G>A	ENST00000308731.7	-	12	1224	c.1061C>T	c.(1060-1062)aCc>aTc	p.T354I	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	354	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.T354I(2)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTCAGGGATGGTGCTGAAAAG	0.502000									Agammaglobulinemia, X-linked				147	334					0	0	1	0	0
C10orf53	282966	broad.mit.edu	37	10	50916417	50916417	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:50916417C>A	ENST00000374112.3	+	3	240	c.228C>A	c.(226-228)acC>acA	p.T76T	C10orf53_ENST00000535836.1_Silent_p.T76T	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	79								p.T76T(2)		endometrium(1)|lung(6)	7		all_neural(218;0.107)				gcaagctcaccccaagtagtg	0.493000													48	104					6.23363e-37	9.14266e-37	1	1	0
PRG4	10216	broad.mit.edu	37	1	186276100	186276100	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:186276100A>C	ENST00000445192.2	+	7	1294	c.1249A>C	c.(1249-1251)Acc>Ccc	p.T417P	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T374P|PRG4_ENST00000367483.4_Missense_Mutation_p.T376P|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	417	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T417P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.652000													8	155					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000141	56000141	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:56000141C>A	ENST00000313264.4	-	1	596	c.521G>T	c.(520-522)aGc>aTc	p.S174I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S174I(2)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GGGTGACATGCTCACTGAATA	0.433000													52	130					3.68337e-26	4.96128e-26	1	1	0
NOLC1	9221	broad.mit.edu	37	10	103917833	103917833	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:103917833G>T	ENST00000405356.1	+	5	704	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.A158S|NOLC1_ENST00000605788.1_Missense_Mutation_p.A157S			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	157	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	p.A157S(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AGCCAAGGCAGCCAAAGCTCC	0.488000													44	126					8.20599e-20	1.02672e-19	1	1	0
OR10A4	283297	broad.mit.edu	37	11	6898596	6898596	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:6898596T>G	ENST00000379829.2	+	1	741	c.718T>G	c.(718-720)Tcc>Gcc	p.S240A		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S240A(2)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGGCATTCTCCACCTGTTC	0.507000													28	178					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887584	23887584	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr14:23887584G>A	ENST00000355349.3	-	30	4166	c.4004C>T	c.(4003-4005)tCg>tTg	p.S1335L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335L(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGCCGGGCCGACTGCAGTGC	0.657000													18	89					0	0	1	0	0
DDX49	54555	broad.mit.edu	37	19	19033422	19033422	+	Silent	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:19033422C>T	ENST00000438170.2	+	7	736	c.324C>T	c.(322-324)acC>acT	p.T108T	DDX49_ENST00000247003.4_Silent_p.T215T|DDX49_ENST00000599156.1_Intron|AC002985.3_ENST00000596918.1_Intron			Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	215	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.T215T(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GGGTGAGCACCGTGGAGCAGC	0.637000													22	75					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43359723	43359723	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:43359723C>A	ENST00000401467.2	-	1	120	c.49G>T	c.(49-51)Ggg>Tgg	p.G17W	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	17						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGCAGGACCCCCTTCCATTTG	0.572000													175	160					6.2965e-74	9.95375e-74	1	1	0
EP400	57634	broad.mit.edu	37	12	132510236	132510236	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:132510236G>T	ENST00000333577.4	+	26	5118	c.5009G>T	c.(5008-5010)cGa>cTa	p.R1670L	EP400_ENST00000389562.2_Missense_Mutation_p.R1633L|EP400_ENST00000389561.2_Missense_Mutation_p.R1634L|EP400_ENST00000330386.6_Missense_Mutation_p.R1553L|EP400_ENST00000332482.4_Missense_Mutation_p.R1597L			Q96L91	EP400_HUMAN	E1A binding protein p400	1670					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.R1633L(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCTACCTTCGAGCCCCTGGC	0.672000													41	69					8.20599e-20	1.02672e-19	1	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011313	105011313	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:105011313G>A	ENST00000372582.1	+	11	2476	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.E179K|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E574K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	574					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.E574K(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGACTCCGCAGAACAAGGACT	0.438000													42	105					0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42003698	42003698	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:42003698G>C	ENST00000264451.6	+	2	355	c.175G>C	c.(175-177)Ggt>Cgt	p.G59R		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	59					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	p.G59R(2)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCATATATTGGTACCCTGAG	0.353000													14	51					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270018	114270018	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:114270018G>A	ENST00000393500.3	+	11	1150	c.330G>A	c.(328-330)caG>caA	p.Q110Q	FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q			O15409	FOXP2_HUMAN	forkhead box P2	185	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcaacagcagcagcagc	0.502000													11	33					0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52780771	52780771	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:52780771G>A	ENST00000593612.1	+	2	417	c.40G>A	c.(40-42)Gag>Aag	p.E14K	ZNF766_ENST00000600821.1_Intron|ZNF766_ENST00000439461.1_Intron|ZNF766_ENST00000599581.1_Intron|ZNF766_ENST00000359102.4_Missense_Mutation_p.E14K			Q5HY98	ZN766_HUMAN	zinc finger protein 766	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GAAAGCAGAGGAGTCAGGCAT	0.448000													4	9					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32048735	32048735	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:32048735G>T	ENST00000438447.1	+	8	1998	c.1610G>T	c.(1609-1611)cGa>cTa	p.R537L	PDZD2_ENST00000282493.3_Missense_Mutation_p.R537L			O15018	PDZD2_HUMAN	PDZ domain containing 2	537					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.R537L(2)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGGTCTCCCGAGATGGCCGG	0.562000													45	194					5.44703e-19	6.68844e-19	1	1	0
COQ7	10229	broad.mit.edu	37	16	19087069	19087069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:19087069G>T	ENST00000321998.5	+	4	460	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	COQ7_ENST00000568985.1_Nonsense_Mutation_p.E132*|COQ7_ENST00000569127.1_Nonsense_Mutation_p.E109*|COQ7_ENST00000544894.2_Nonsense_Mutation_p.E94*	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	132	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	p.E132*(2)		breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						GCTCGGGAAGGAAGGTGCCAT	0.552000													34	235					3.33393e-15	3.92928e-15	1	1	0
ZDHHC9	51114	broad.mit.edu	37	X	128957764	128957764	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:128957764G>A	ENST00000357166.6	-	5	769	c.378C>T	c.(376-378)atC>atT	p.I126I	ZDHHC9_ENST00000371064.3_Silent_p.I126I|ZDHHC9_ENST00000491039.1_5'UTR	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	126						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.I126I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GGAAATTCTTGATACGAGGCG	0.493000													28	453					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4168422	4168422	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:4168422G>A	ENST00000078445.2	+	6	936	c.789G>A	c.(787-789)aaG>aaA	p.K263K	CREB3L3_ENST00000602257.1_Silent_p.K261K|CREB3L3_ENST00000252587.3_Silent_p.K203K|CREB3L3_ENST00000595923.1_Silent_p.K262K|CREB3L3_ENST00000602147.1_Intron	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	263					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K263K(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGAAGAAGAAGAAGGAAT	0.537000													13	52					0	0	1	0	0
PMPCB	9512	broad.mit.edu	37	7	102937953	102937953	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:102937953G>T	ENST00000249269.4	+	1	85	c.47G>T	c.(46-48)cGg>cTg	p.R16L	PMPCB_ENST00000420236.2_5'UTR|PMPCB_ENST00000428154.1_Missense_Mutation_p.R16L	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	16				RR -> GG (in Ref. 1; AAC39915).	proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	p.R16L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCGGCGCGGCGGCGGCTCTGG	0.652000											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	46					1.75199e-13	2.02861e-13	1	1	0
PLIN3	10226	broad.mit.edu	37	19	4859660	4859660	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:4859660T>C	ENST00000221957.4	-	4	466	c.290A>G	c.(289-291)cAc>cGc	p.H97R	PLIN3_ENST00000585479.1_Missense_Mutation_p.H97R|PLIN3_ENST00000592528.1_Missense_Mutation_p.H97R	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	97					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	p.H97R(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CAGCCCCCTGTGGGCGTATTC	0.567000													20	101					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764395	82764395	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:82764395G>A	ENST00000423517.2	-	3	2808	c.2471C>T	c.(2470-2472)cCt>cTt	p.P824L	PCLO_ENST00000333891.8_Missense_Mutation_p.P824L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	770	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P824L(4)|p.P770L(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTGATGCAGGTCGAGGTAT	0.438000													102	175					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060247	16060247	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:16060247C>G	ENST00000322107.1	+	1	430	c.430C>G	c.(430-432)Cat>Gat	p.H144D		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	144			H -> R (in dbSNP:rs16980822).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H144D(2)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGACTGTGCCCATCTTGTGGC	0.542000													37	124					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	126					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158622310	158622310	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:158622310C>A	ENST00000368148.3	-	23	3502	c.3322G>T	c.(3322-3324)Gtg>Ttg	p.V1108L	SPTA1_ENST00000368147.3_Missense_Mutation_p.V1108L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1108					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.V1108L(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTAGTTCCACTCCAGTGTTT	0.408000													45	117					4.0306e-16	4.83672e-16	1	1	0
NEK4	6787	broad.mit.edu	37	3	52794870	52794870	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:52794870T>A	ENST00000233027.5	-	6	1106	c.904A>T	c.(904-906)Aat>Tat	p.N302Y	NEK4_ENST00000383721.4_Missense_Mutation_p.N302Y|NEK4_ENST00000535191.1_Missense_Mutation_p.N213Y	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	302					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.N302Y(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		ACTTCATGATTTGATTCTGCC	0.378000													74	125					0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20824527	20824527	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:20824527G>T	ENST00000304031.3	-	5	774	c.749C>A	c.(748-750)cCa>cAa	p.P250Q		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	250					cell communication		phosphatidylinositol binding	p.P250Q(2)		endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGTCCTGTGGAGACAGCTT	0.642000													23	198					1.1804e-14	1.385e-14	1	1	0
KIF2B	84643	broad.mit.edu	37	17	51900791	51900791	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:51900791G>T	ENST00000268919.4	+	1	553	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	133					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.V133L(2)|p.V133M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGCCTGGATGTGAGGGTCCC	0.582000													71	178					3.58576e-35	5.11698e-35	1	1	0
NBPF14	25832	broad.mit.edu	37	1	148016411	148016411	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:148016411G>A	ENST00000369219.1	-	7	847	c.831C>T	c.(829-831)ccC>ccT	p.P277P				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	277	NBPF 3.					cytoplasm		p.P277P(2)|p.P283L(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGACTCACCTGGGACCTGTTG	0.438000													146	106					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110862504	110862504	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr13:110862504C>G	ENST00000375820.4	-	9	645	c.524G>C	c.(523-525)aGa>aCa	p.R175T	COL4A1_ENST00000543140.1_Missense_Mutation_p.R175T	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	175	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.R175T(2)|p.R166T(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGAAATCCTCTTTCACCTTT	0.453000													36	43					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98146807	98146807	+	Missense_Mutation	SNP	G	G	T	rs144026118		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:98146807G>T	ENST00000357947.3	-	14	1980	c.1755C>A	c.(1753-1755)caC>caA	p.H585Q		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	585	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.H585Q(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CGCACCCGCCGTGATCTGGCC	0.582000													84	100					2.18481e-45	3.33404e-45	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114186033	114186033	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr8:114186033G>A	ENST00000297405.5	-	4	871	c.627C>T	c.(625-627)atC>atT	p.I209I	CSMD3_ENST00000455883.2_Silent_p.I209I|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Silent_p.I209I|CSMD3_ENST00000343508.3_Silent_p.I169I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	209	Sushi 1.					integral to membrane|plasma membrane		p.I209I(2)|p.I169I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCCATCAAGGATGTATCCAG	0.458000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	139					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11047364	11047364	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:11047364A>G	ENST00000379261.4	+	1	106	c.14A>G	c.(13-15)aAa>aGa	p.K5R	CELF2_ENST00000416382.2_Missense_Mutation_p.K5R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	5	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	p.K5R(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CGCTGTCCCAAATCCGCTGTT	0.438000													30	226					0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6704148	6704148	+	Missense_Mutation	SNP	G	G	C	rs150562113		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:6704148G>C	ENST00000338694.2	-	7	1096	c.967C>G	c.(967-969)Cgg>Ggg	p.R323G	TEKT1_ENST00000535086.1_Missense_Mutation_p.R177G	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	323					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.H322_R323>QG(1)|p.R323G(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ACGTTCGGCCGGTGTGTCCTG	0.527000											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	117	186					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase.		L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537000	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			77	214					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925554	54925554	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:54925554C>A	ENST00000293373.6	+	25	2805	c.2726C>A	c.(2725-2727)aCc>aAc	p.T909N	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.T859N	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	909					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.T909N(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AAGCGCATGACCATCATTGGG	0.493000													36	141					5.43694e-19	6.68844e-19	1	1	0
AHRR	57491	broad.mit.edu	37	5	353963	353963	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:353963C>G	ENST00000316418.5	+	3	237	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	AHRR_ENST00000505113.1_Missense_Mutation_p.L65V|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Missense_Mutation_p.L61V	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	65	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.L61V(2)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CATCTCCAAGCTGGACAAGCT	0.592000													77	211					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188147	57188147	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:57188147G>C	ENST00000331162.4	-	5	1245	c.975C>G	c.(973-975)tgC>tgG	p.C325W		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C325W(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCTCACACCTGCAGGGTTTCT	0.453000													14	33					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20443793	20443793	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr14:20443793T>A	ENST00000305051.5	+	1	191	c.116T>A	c.(115-117)cTg>cAg	p.L39Q		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L39Q(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGTGTTGCTGGGACTGTCT	0.403000													31	98					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6208958	6208958	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:6208958G>A	ENST00000262450.3	-	9	1438	c.1339C>T	c.(1339-1341)Ctg>Ttg	p.L447L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	447	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.L447L(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATCTCGGGCAGCGGCGGGTTG	0.701000													78	40					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96506952	96506952	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:96506952T>A	ENST00000283109.3	-	6	805	c.737A>T	c.(736-738)gAt>gTt	p.D246V	RIOK2_ENST00000508447.1_Missense_Mutation_p.D246V|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	246							ATP binding|protein serine/threonine kinase activity	p.D246V(4)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CTGTGGAAAATCAATCATGGT	0.318000													17	55					0	0	1	0	0
ALMS1P	200420	broad.mit.edu	37	2	73901983	73901983	+	RNA	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:73901983C>G	ENST00000450720.1	+	0	936					NR_003683.2													p.Q152E(2)									CCTGGCTGTCCAGAAGAACAA	0.478000													27	35					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228492264	228492264	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:228492264A>G	ENST00000570156.2	+	53	14337	c.14263A>G	c.(14263-14265)Agg>Ggg	p.R4755G	OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1445G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3798					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R4380G(2)|p.R4510G(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTCACGATCAGGGGTAAAGA	0.557000													34	96					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711454	195711454	+	RNA	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:195711454C>A	ENST00000427841.1	-	0	493					NR_003264.2																						CCAGAGCCTCCCGCCCATCAC	0.572000													8	92					1.02788e-11	1.15473e-11	1	1	0
FAM86DP	692099	broad.mit.edu	37	3	75476630	75476630	+	RNA	SNP	T	T	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:75476630T>G	ENST00000459803.1	-	0	726					NR_024241.1													p.V229V(2)									GGACCGTCGCTACGTCCCAGT	0.582000													11	81					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91348044	91348044	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:91348044G>T	ENST00000358859.2	-	1	909	c.476C>A	c.(475-477)cCg>cAg	p.P159Q	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CGGGCTCCGCGGGTAGGAGTG	0.706000													7	55					0.00010058	0.000103319	1	1	0
PDE1C	5137	broad.mit.edu	37	7	31864558	31864558	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:31864558C>A	ENST00000396184.3	-	14	1533	c.1329G>T	c.(1327-1329)acG>acT	p.T443T	PDE1C_ENST00000396191.1_Silent_p.T443T|PDE1C_ENST00000396193.1_Silent_p.T503T|PDE1C_ENST00000396182.2_Silent_p.T443T|PDE1C_ENST00000321453.7_Silent_p.T443T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	443	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.T443T(2)|p.D444Y(2)|p.T503T(1)|p.D504Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CGGTCATGTCCGTAAGCACAG	0.483000													58	164					2.75338e-15	3.25961e-15	1	1	0
CDH10	1008	broad.mit.edu	37	5	24537699	24537699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:24537699C>A	ENST00000264463.4	-	3	823	c.316G>T	c.(316-318)Gaa>Taa	p.E106*		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	106	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E106*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTGTTTTTTCATCAATAATA	0.388000										HNSCC(23;0.051)			4	44					1	1	1	1	0
NRK	203447	broad.mit.edu	37	X	105132286	105132286	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:105132286G>T	ENST00000428173.2	+	5	555		c.e5-1		NRK_ENST00000243300.9_Splice_Site|NRK_ENST00000536164.1_Splice_Site			Q7Z2Y5	NRK_HUMAN	Nik related kinase								ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.?(4)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTATTCCATAGGATGAGGAAG	0.398000										HNSCC(51;0.14)			5	19					3.59834e-05	3.72534e-05	1	1	0
MED24	9862	broad.mit.edu	37	17	38192396	38192396	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:38192396G>A	ENST00000394126.1	-	3	718	c.300C>T	c.(298-300)taC>taT	p.Y100Y	MED24_ENST00000501516.3_Silent_p.Y75Y|MED24_ENST00000394128.2_Silent_p.Y75Y|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000356271.3_Intron|MED24_ENST00000394127.2_Intron			O75448	MED24_HUMAN	mediator complex subunit 24	75					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.Y75Y(2)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GGACAGAAGAGTAGGACACCA	0.498000													39	102					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50946023	50946023	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:50946023G>A	ENST00000374103.4	-	19	2572	c.2487C>T	c.(2485-2487)cgC>cgT	p.R829R	OGDHL_ENST00000419399.1_Silent_p.R772R|OGDHL_ENST00000432695.1_Silent_p.R620R|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	829					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R829R(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGATCTGCCGGCGCAGCACGT	0.652000													65	288					0	0	1	0	0
CXorf40B	541578	broad.mit.edu	37	X	149101918	149101918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:149101918C>A	ENST00000370406.3	-	4	1003	c.175G>T	c.(175-177)Gag>Tag	p.E59*	CXorf40B_ENST00000355203.2_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000462691.1_Nonsense_Mutation_p.E59*|CXorf40B_ENST00000370404.1_Nonsense_Mutation_p.E59*			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	59								p.E59*(2)		endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCGAGTCTCTCCACCAGCAGC	0.577000													82	314					1.31735e-33	1.85979e-33	1	1	0
OPN5	221391	broad.mit.edu	37	6	47775990	47775990	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:47775990A>T	ENST00000489301.2	+	5	942	c.857A>T	c.(856-858)cAg>cTg	p.Q286L	OPN5_ENST00000371211.2_Missense_Mutation_p.Q286L|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.Q286L			Q6U736	OPN5_HUMAN	opsin 5	286					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.Q286L(2)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						ATTCCCATACAGCTCTCTGTG	0.458000													65	192					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28424343	28424343	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr15:28424343T>C	ENST00000261609.7	-	58	9072	c.8964A>G	c.(8962-8964)acA>acG	p.T2988T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2988					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T2988T(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCTGACAGTGTCTCAGAGA	0.294000													64	100					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56443508	56443508	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:56443508C>A	ENST00000588751.1	-	1	194	c.170G>T	c.(169-171)tGg>tTg	p.W57L	NLRP13_ENST00000342929.3_Missense_Mutation_p.W57L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	57	DAPIN.						ATP binding	p.W57L(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAGTTTGCCCAGGGGATACG	0.547000													121	91					4.03838e-40	6.05757e-40	1	1	0
ALS2	57679	broad.mit.edu	37	2	202609145	202609145	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:202609145T>C	ENST00000264276.6	-	10	2378	c.2006A>G	c.(2005-2007)tAt>tGt	p.Y669C		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	669					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	p.Y669C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCTGCTTATATATCCAAGCTG	0.353000													48	30					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20177828	20177828	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:20177828G>T	ENST00000524983.2	-	4	1252	c.964C>A	c.(964-966)Cct>Act	p.P322T	DBX1_ENST00000227256.3_Missense_Mutation_p.P361T			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	322					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P361T(2)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						AAGTCCGAAGGTTTCCCGGGA	0.652000													102	227					2.78421e-50	4.3493e-50	1	1	0
GOLIM4	27333	broad.mit.edu	37	3	167728078	167728078	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:167728078T>C	ENST00000470487.1	-	16	2759	c.2070A>G	c.(2068-2070)tcA>tcG	p.S690S	GOLIM4_ENST00000309027.4_Silent_p.S662S	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	690					transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		p.S690S(2)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTCGATGTGATTTCTCAG	0.493000													38	147					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151664369	151664369	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:151664369C>A	ENST00000392800.2	+	2	292	c.38C>A	c.(37-39)tCc>tAc	p.S13Y	GALNTL5_ENST00000431418.2_Missense_Mutation_p.S13Y	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	13						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.S13Y(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TTCTATGGGTCCTTGACATTT	0.383000													14	62					9.05144e-12	1.02557e-11	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28338490	28338490	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr21:28338490A>C	ENST00000284987.5	-	1	342	c.221T>G	c.(220-222)gTg>gGg	p.V74G		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	74					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GATGTTCTGCACCAGCCCCTT	0.726000													12	94					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197104226	197104226	+	Splice_Site	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:197104226C>A	ENST00000367409.4	-	5	2429	c.2173_splice	c.e5+1	p.V725_splice	ASPM_ENST00000367408.1_5'UTR|ASPM_ENST00000294732.7_Splice_Site_p.V725_splice	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	725					mitosis	cytoplasm|nucleus	calmodulin binding	p.V725L(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAACGTTTACCTTCAGAAATA	0.269000													4	17					0.00909568	0.00916511	1	1	0
SLIT3	6586	broad.mit.edu	37	5	168098448	168098448	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:168098448G>T	ENST00000519560.1	-	34	4301	c.3882C>A	c.(3880-3882)ggC>ggA	p.G1294G	SLIT3_ENST00000332966.8_Silent_p.G1301G|SLIT3_ENST00000404867.3_Silent_p.G1294G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1294	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.G1294G(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCGGTCCGTGCCCTGGCGCA	0.672000													20	9					1.64293e-13	1.91072e-13	1	1	0
ASPA	443	broad.mit.edu	37	17	3385072	3385072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:3385072C>T	ENST00000263080.2	+	2	570	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	ASPA_ENST00000456349.2_Nonsense_Mutation_p.Q138*|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	138					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	p.Q138*(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	CTTTTTAATTCAGATGTTTCA	0.318000													10	16					0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													5	25					0	0	1	0	0
LAX1	54900	broad.mit.edu	37	1	203743633	203743633	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:203743633G>T	ENST00000442561.2	+	5	1411	c.1021G>T	c.(1021-1023)Gct>Tct	p.A341S	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.A325S	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	341					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.A341S(2)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACATTCCTTGCTTCAGGGGA	0.468000													57	128					1.03172e-35	1.49657e-35	1	1	0
SLC7A11	23657	broad.mit.edu	37	4	139100436	139100436	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:139100436C>A	ENST00000280612.5	-	11	1658	c.1379G>T	c.(1378-1380)gGa>gTa	p.G460V		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	460					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	p.G460V(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CGCAGGGACTCCAGTCAGAGT	0.423000													37	69					1.60099e-16	1.92995e-16	1	1	0
ANKS1B	56899	broad.mit.edu	37	12	99837534	99837534	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:99837534T>G	ENST00000547776.2	-	11	1491	c.1492A>C	c.(1492-1494)Agc>Cgc	p.S498R	ANKS1B_ENST00000547010.1_Missense_Mutation_p.S78R|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S498R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	498						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.S498R(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCTGTTGAGCTGTTTCTATGG	0.438000													22	38					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81187704	81187704	+	RNA	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:81187704G>C	ENST00000525539.1	-	0	4267				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.P1423R(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGGTGGTGGGGCTCTCTCTC	0.602000													9	16					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149131	52149131	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:52149131G>T	ENST00000360844.6	-	3	645	c.604C>A	c.(604-606)Ccc>Acc	p.P202T	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	202	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.P202T(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCGGGCCTGGGGGTGAGGGTG	0.627000													50	44					9.40368e-32	1.31353e-31	1	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227218999	227218999	+	Splice_Site	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:227218999C>G	ENST00000366769.3	-	27	4961	c.3670_splice	c.e27+1	p.D1224_splice	CDC42BPA_ENST00000535525.1_Splice_Site_p.D1204_splice|CDC42BPA_ENST00000366766.2_Splice_Site_p.D1259_splice|CDC42BPA_ENST00000334218.5_Splice_Site_p.D1224_splice|CDC42BPA_ENST00000366767.3_Splice_Site_p.D1143_splice|CDC42BPA_ENST00000366765.3_Splice_Site_p.D1237_splice|CDC42BPA_ENST00000366764.2_Splice_Site_p.D1196_splice	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1237					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.D1224H(2)|p.D1143H(2)|p.D1259H(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AAATTCATACCTATGATTGCG	0.388000													16	72					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119727780	119727780	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:119727780T>A	ENST00000541757.1	+	4	436	c.56T>A	c.(55-57)cTg>cAg	p.L19Q	MARCO_ENST00000327097.4_Missense_Mutation_p.L97Q			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	97					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.L97Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TTCTCCTTGCTGCAGTCAGCA	0.617000													133	74					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38145111	38145111	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:38145111T>C	ENST00000378505.2	-	15	3317	c.3141A>G	c.(3139-3141)gaA>gaG	p.E1047E	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	836					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.E1047E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ccccctccttttccctttctt	0.537000													18	29					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12905653	12905653	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:12905653A>T	ENST00000380659.3	+	3	2165	c.2026A>T	c.(2026-2028)Aat>Tat	p.N676Y		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	676					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	p.N676Y(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TATGCCTCCAAATCTAAAGAA	0.373000													6	306					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91667886	91667886	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:91667886A>G	ENST00000359028.2	+	18	4753	c.4528A>G	c.(4528-4530)Att>Gtt	p.I1510V	AKAP9_ENST00000356239.3_Missense_Mutation_p.I1498V|AKAP9_ENST00000358100.2_Missense_Mutation_p.I1510V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1510					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.I1510V(2)|p.I1498V(2)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGGATCAAATTGGTTTTCA	0.323000			T	BRAF	papillary thyroid								29	34					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799160	212799160	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:212799160G>T	ENST00000294829.3	+	1	1372	c.941G>T	c.(940-942)gGg>gTg	p.G314V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	314	Ala-rich.							p.G314V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GCCATAGCTGGGGCGGCCACC	0.642000													11	62					5.61819e-17	6.80368e-17	1	1	0
OR14A16	284532	broad.mit.edu	37	1	247978341	247978341	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:247978341C>T	ENST00000357627.1	-	1	690	c.691G>A	c.(691-693)Ggc>Agc	p.G231S		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G231S(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTTGACTGGCCTTCTGTGGAA	0.413000													18	48					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133256576	133256576	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:133256576T>C	ENST00000320574.5	-	5	430	c.387A>G	c.(385-387)gcA>gcG	p.A129A	POLE_ENST00000535270.1_Silent_p.A102A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	129					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.A129A(4)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTCCACTTTTGCAATTTTGC	0.448000								DNA polymerases (catalytic subunits)					46	92					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616138	248616138	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:248616138G>A	ENST00000342927.3	+	1	62	c.40G>A	c.(40-42)Gtc>Atc	p.V14I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V14S(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACTAACTTCGTCCTCACAGG	0.507000													39	199					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43359724	43359724	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:43359724C>A	ENST00000401467.2	-	1	119	c.48G>T	c.(46-48)aaG>aaT	p.K16N	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	16						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GCAGGACCCCCTTCCATTTGA	0.572000													178	162					2.29391e-76	3.64815e-76	1	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357646	118357646	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:118357646C>T	ENST00000528052.1	+	8	853	c.782C>T	c.(781-783)tCt>tTt	p.S261F	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S261F|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S261F			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	261					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.S261F(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AATGCCCTGTCTCAGATCGTG	0.527000													26	41					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239890	135239890	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:135239890G>A	ENST00000265605.2	-	7	1195	c.1127C>T	c.(1126-1128)aCg>aTg	p.T376M	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T322M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T326M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	376					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.T376M(4)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TGTTATCACCGTGGGAAGCAT	0.502000													46	225					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433035	55433035	+	Silent	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:55433035G>C	ENST00000314259.3	+	1	422	c.393G>C	c.(391-393)acG>acC	p.T131T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T131T(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGCACTACACGATCATCATGA	0.512000													36	119					0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279140	51279140	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:51279140G>A	ENST00000551456.1	+	4	809	c.764G>A	c.(763-765)gGt>gAt	p.G255D	TMPRSS12_ENST00000398458.3_Missense_Mutation_p.G255D			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	255	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.G255D(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TTTTGTGCAGGTGATGAAGAT	0.363000													59	179					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048560	6048560	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:6048560C>A	ENST00000316650.5	-	1	411	c.375G>T	c.(373-375)atG>atT	p.M125I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M125I(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTCATAGGCCATGACCATAA	0.502000													41	94					9.73076e-26	1.29743e-25	1	1	0
GHRHR	2692	broad.mit.edu	37	7	31013682	31013682	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:31013682T>A	ENST00000409904.3	+	4	746	c.488T>A	c.(487-489)cTg>cAg	p.L163Q	GHRHR_ENST00000326139.2_Missense_Mutation_p.L227Q|GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	227					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.L227Q(2)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GCCGTCTACCTGAACTGCCTC	0.632000													83	230					0	0	1	0	0
NKX6-1	4825	broad.mit.edu	37	4	85414499	85414499	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:85414499G>C	ENST00000295886.4	-	3	1268	c.1047C>G	c.(1045-1047)agC>agG	p.S349R	NKX6-1_ENST00000515820.2_Missense_Mutation_p.S75R	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	349	Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		p.S349R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		CGCCGCCGCTGCTGGACTTGT	0.652000													28	84					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161976113	161976113	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:161976113C>A	ENST00000294794.3	-	4	1120	c.697G>T	c.(697-699)Gca>Tca	p.A233S	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A233S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	233	Poly-Ala.							p.A233S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTGCTGCTGCATCCCTCTGC	0.527000													88	220					2.5264e-35	3.62484e-35	1	1	0
LINC00842	643650	broad.mit.edu	37	10	47133423	47133423	+	RNA	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:47133423T>A	ENST00000422732.2	-	0	435					NR_033957.1																						TAGGCCTCCATTGCCACAGGG	0.453000													41	248					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144805	25144805	+	RNA	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr13:25144805C>A	ENST00000453498.1	+	0	346																											GGGTCCTGGTCCTGCCATGGG	0.463000													13	61					2.31682e-05	2.40804e-05	1	1	0
KAT2B	8850	broad.mit.edu	37	3	20167606	20167606	+	Splice_Site	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:20167606G>T	ENST00000263754.4	+	10	2077		c.e10+1			NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B						cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TCTTTGACCCGTAAGTGGTAC	0.448000													8	21					5.18039e-06	5.42708e-06	1	1	0
GPR142	350383	broad.mit.edu	37	17	72368476	72368476	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:72368476G>C	ENST00000335666.4	+	4	1174	c.1126G>C	c.(1126-1128)Gtc>Ctc	p.V376L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	376						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.V376L(2)|p.V376I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCGGGTCTTCGTCATGCTCTA	0.662000													110	228					0	0	1	0	0
NPIPB6	728741	broad.mit.edu	37	16	28354353	28354353	+	Missense_Mutation	SNP	T	T	G	rs1794256	by1000genomes	TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:28354353T>G	ENST00000532254.1	-	7	1538	c.853A>C	c.(853-855)Act>Cct	p.T285P	NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P					nuclear pore complex interacting protein family, member B6									p.T285P(4)									AGACACTCAGTAGGTGTCTTG	0.507000													7	85					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102508881	102508881	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:102508881A>G	ENST00000321521.9	+	20	2882	c.2309A>G	c.(2308-2310)gAa>gGa	p.E770G	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.E770G|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.E770G|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	770					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.E770G(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTAAAGCTGAAAAACTGGAG	0.338000													13	8					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686420	108686420	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:108686420A>G	ENST00000397688.2	-	3	683	c.314T>C	c.(313-315)tTc>tCc	p.F105S	CMKLR1_ENST00000552995.1_Missense_Mutation_p.F105S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.F107S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.F107S|CMKLR1_ENST00000312143.7_Missense_Mutation_p.F107S	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	107					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.F105S(2)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGCTGTCCCGAAAACCCAGTG	0.517000													50	123					0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145608466	145608466	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:145608466C>T	ENST00000334163.3	-	3	501	c.341G>A	c.(340-342)gGc>gAc	p.G114D	POLR3C_ENST00000369294.1_Missense_Mutation_p.G114D|POLR3C_ENST00000471254.1_5'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	114					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TGTCAGTTTGCCGTTCAACAG	0.463000													5	203					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55129867	55129867	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:55129867C>T	ENST00000257290.5	+	4	732	c.401C>T	c.(400-402)aCg>aTg	p.T134M	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Missense_Mutation_p.T134M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	134	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.T134M(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTAGGAATGACGGATTATTTA	0.408000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			47	102					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947310	237947310	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:237947310G>A	ENST00000366574.2	+	90	12615	c.12298G>A	c.(12298-12300)Gtc>Atc	p.V4100I	RYR2_ENST00000360064.6_Missense_Mutation_p.V4106I|RYR2_ENST00000542537.1_Missense_Mutation_p.V4084I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4100					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V4098I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACGTCGCCGTCCTTCTGAC	0.502000													5	52					0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39620561	39620561	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:39620561C>A	ENST00000225899.3	-	4	946	c.843G>T	c.(841-843)agG>agT	p.R281S		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	281	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.R281S(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCTCCACGTCCCTGCGGTTGG	0.617000													55	119					9.53978e-28	1.30492e-27	1	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140719811	140719811	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:140719811A>G	ENST00000394576.2	+	1	1273	c.1273A>G	c.(1273-1275)Aaa>Gaa	p.K425E	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.K425E(4)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAACCGCTAAAGATGGAGG	0.488000													52	128					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34648810	34648810	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr15:34648810T>C	ENST00000537011.1	+	8	2983	c.2601T>C	c.(2599-2601)ggT>ggC	p.G867G	NUTM1_ENST00000333756.4_Silent_p.G839G|NUTM1_ENST00000438749.3_Silent_p.G857G					NUT midline carcinoma, family member 1									p.G839G(2)									GGGCAGAAGGTTGCTTCCCAT	0.522000													15	103					0	0	1	0	0
NEU3	10825	broad.mit.edu	37	11	74716538	74716538	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:74716538G>A	ENST00000532963.1	+	2	302	c.175G>A	c.(175-177)Gag>Aag	p.E59K	NEU3_ENST00000544263.1_Silent_p.K96K|NEU3_ENST00000529024.1_Missense_Mutation_p.E59K|NEU3_ENST00000545272.1_Silent_p.K20K|NEU3_ENST00000531509.1_Silent_p.K129K|NEU3_ENST00000294064.4_Silent_p.K129K			A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	0								p.K129K(4)		kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GGGAGCAGAAGAGTGGTTGTG	0.562000													31	55					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531939	92531939	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:92531939C>G	ENST00000298047.6	+	9	5777	c.5760C>G	c.(5758-5760)taC>taG	p.Y1920*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y1770*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y1920*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1920	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.Y1920*(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACTGACATACAGCCTAATGG	0.418000										TCGA Ovarian(4;0.039)			23	50					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67300882	67300882	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:67300882T>C	ENST00000392676.3	-	7	922	c.858A>G	c.(856-858)acA>acG	p.T286T	ABCA5_ENST00000392677.2_Silent_p.T286T|ABCA5_ENST00000588877.1_Silent_p.T286T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	286					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.T286T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ACAAAGAAGCTGTCGCAATGA	0.323000													18	45					0	0	1	0	0
RHEBL1	121268	broad.mit.edu	37	12	49463563	49463563	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:49463563C>A	ENST00000301068.6	-	1	245	c.6G>T	c.(4-6)ccG>ccT	p.P2P		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	2					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding	p.P2P(2)		breast(2)|large_intestine(2)|lung(5)	9						AGCGGACTAGCGGCATGGCAG	0.647000													23	42					4.4004e-07	4.64682e-07	1	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254445	30254445	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:30254445C>A	ENST00000361644.2	+	5	1141	c.404C>A	c.(403-405)gCa>gAa	p.A135E	MAGEB3_ENST00000378986.1_Missense_Mutation_p.A135E	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	135	MAGE.							p.A135E(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						ATTATGAAAGCAGATATGCTA	0.383000													38	103					6.1244e-12	6.96915e-12	1	1	0
EMR1	2015	broad.mit.edu	37	19	6935052	6935052	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:6935052A>T	ENST00000312053.4	+	18	2381	c.2344A>T	c.(2344-2346)Agt>Tgt	p.S782C	EMR1_ENST00000450315.3_Missense_Mutation_p.S605C|EMR1_ENST00000381404.4_Missense_Mutation_p.S763C|EMR1_ENST00000381407.5_Missense_Mutation_p.S641C|EMR1_ENST00000250572.8_Missense_Mutation_p.S717C	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	782					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S782C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAGGCTTTCCAGTGTTAATGC	0.468000													47	173					0	0	1	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84564036	84564036	+	RNA	SNP	C	C	A	rs34475432	by1000genomes	TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr9:84564036C>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							CAGCAGGAGCCCAGGGTCCCT	0.522000													3	8					0.004672	0.0047257	1	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69034512	69034512	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:69034512G>T	ENST00000295381.3	+	5	990	c.571G>T	c.(571-573)Ggc>Tgc	p.G191C	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.G166C|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.G152C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.G185C|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.G184C|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.G192C	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	191	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.G185C(2)|p.G192C(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCTGGAGCACGGCCGGAATGA	0.582000													54	136					1.59911e-31	2.21029e-31	1	1	0
RMND5A	64795	broad.mit.edu	37	2	86997154	86997154	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:86997154C>G	ENST00000283632.4	+	7	1358	c.863C>G	c.(862-864)gCa>gGa	p.A288G	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	288								p.A288G(2)		kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						AGTTTCTCAGCAGGTTGTGTG	0.502000													151	313					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202593271	202593271	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:202593271C>A	ENST00000264276.6	-	15	3177	c.2805G>T	c.(2803-2805)tgG>tgT	p.W935C	ALS2_ENST00000457679.2_Missense_Mutation_p.W247C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	935	PH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	p.W935C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGAGAATGAACCAATTCACGG	0.483000													171	121					4.34395e-57	6.82621e-57	1	1	0
CPS1	1373	broad.mit.edu	37	2	211473091	211473091	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:211473091A>G	ENST00000233072.5	+	19	2395	c.2199A>G	c.(2197-2199)ccA>ccG	p.P733P	CPS1_ENST00000451903.2_Silent_p.P282P|CPS1_ENST00000430249.2_Silent_p.P739P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	733	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.P739P(2)|p.P733P(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATAGCTACCCATTGGCATTCA	0.363000													64	37					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411400	5411400	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:5411400T>A	ENST00000328611.3	+	1	794	c.772T>A	c.(772-774)Tgt>Agt	p.C258S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	258						integral to membrane	olfactory receptor activity	p.C258S(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGCTCCTCTCTGTGCTGTGCT	0.562000													22	125					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711455	195711455	+	RNA	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:195711455C>A	ENST00000427841.1	-	0	492					NR_003264.2																						CAGAGCCTCCCGCCCATCACC	0.567000													8	94					1.02788e-11	1.15473e-11	1	1	0
ELAVL2	1993	broad.mit.edu	37	9	23701585	23701585	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr9:23701585C>A	ENST00000397312.2	-	5	779	c.505G>T	c.(505-507)Ggg>Tgg	p.G169W	ELAVL2_ENST00000380110.4_Missense_Mutation_p.G198W|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G169W|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G169W|ELAVL2_ENST00000544538.1_Missense_Mutation_p.G169W	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	169	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.G169W(2)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CGAATAAACCCTACACCCCTT	0.433000													41	55					6.33695e-27	8.62348e-27	1	1	0
MUC17	140453	broad.mit.edu	37	7	100681561	100681561	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:100681561C>G	ENST00000306151.4	+	3	6928	c.6864C>G	c.(6862-6864)caC>caG	p.H2288Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2288	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.H2288Q(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTCAGCCACACGCTGGTGG	0.478000													132	260					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53189527	53189527	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:53189527G>T	ENST00000417996.2	-	1	374	c.300C>A	c.(298-300)ggC>ggA	p.G100G	KRT3_ENST00000309505.3_Silent_p.G100G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	100	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	p.G100G(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						cacctccatagccgctcccaa	0.652000													68	136					6.75472e-32	9.48535e-32	1	1	0
KRT85	3891	broad.mit.edu	37	12	52761049	52761049	+	Silent	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:52761049C>T	ENST00000257901.3	-	1	216	c.141G>A	c.(139-141)ggG>ggA	p.G47G		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	47	Head.				epidermis development	keratin filament	protein binding|structural molecule activity	p.G47G(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCGTCAGCCCTCGGTAGC	0.682000													14	35					0	0	1	0	0
AVPR2	554	broad.mit.edu	37	X	153171455	153171455	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:153171455C>A	ENST00000358927.2	+	3	704	c.495C>A	c.(493-495)gcC>gcA	p.A165A	AVPR2_ENST00000370049.1_Silent_p.A165A|AVPR2_ENST00000337474.5_Silent_p.A165A			P30518	V2R_HUMAN	arginine vasopressin receptor 2	165					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	p.A165A(2)|p.L168fs*41(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGCTTGGGCCTTCTCGCTCC	0.662000													40	88					9.8876e-21	1.26103e-20	1	1	0
IHH	3549	broad.mit.edu	37	2	219920175	219920175	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:219920175G>A	ENST00000295731.5	-	3	989	c.990C>T	c.(988-990)gcC>gcT	p.A330A		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	330					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	p.A330A(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGAGCGGGGCGTAGGCCC	0.682000													60	38					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65077169	65077169	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:65077169A>G	ENST00000380985.5	+	6	921	c.743A>G	c.(742-744)tAt>tGt	p.Y248C	NLN_ENST00000502464.1_Missense_Mutation_p.Y144C	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	248					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	p.Y248C(2)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TATCCACACTATTTCCCTGTC	0.328000													48	45					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17643134	17643134	+	Silent	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:17643134G>T	ENST00000335393.4	+	4	480	c.342G>T	c.(340-342)cgG>cgT	p.R114R	FAM129C_ENST00000599164.1_Silent_p.R83R|FAM129C_ENST00000300971.2_Silent_p.R114R|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000352727.3_Silent_p.R114R|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000600871.1_Silent_p.R60R|FAM129C_ENST00000332386.5_Silent_p.R114R|FAM129C_ENST00000595684.1_Silent_p.R114R|FAM129C_ENST00000599124.1_Silent_p.R83R|FAM129C_ENST00000601861.1_Silent_p.R83R	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	114								p.R114R(4)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						ACCCACCCCGGTGGCAGCCGA	0.647000													29	112					1.57351e-24	2.07704e-24	1	1	0
GRAMD1A	57655	broad.mit.edu	37	19	35500129	35500129	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:35500129A>G	ENST00000599564.1	+	3	447	c.376A>G	c.(376-378)Acc>Gcc	p.T126A	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.T39A|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.T39A|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.T39A|GRAMD1A_ENST00000504615.2_5'UTR			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	39	GRAM.					integral to membrane		p.T39A(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAACCAGGCACCATGGTGGA	0.662000													58	40					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173255	5173255	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:5173255G>A	ENST00000380367.1	-	2	762	c.345C>T	c.(343-345)ggC>ggT	p.G115G	OR52A1_ENST00000328942.1_Silent_p.G115G			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	115					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.G115G(2)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAAGGATGCCTGACTCTA	0.448000													13	33					0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48726111	48726111	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:48726111G>A	ENST00000328631.5	-	6	1099	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	292					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.F292F(4)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CATTGTGGAAGAACTGGAAAA	0.562000													33	181					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43907004	43907004	+	Silent	SNP	T	T	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:43907004T>C	ENST00000562955.1	+	52	7293	c.7293T>C	c.(7291-7293)ggT>ggC	p.G2431G	SZT2_ENST00000372442.1_Silent_p.G1589G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2488						peroxisome		p.G1589G(4)|p.G2431G(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGACTCCTGGTGGAGCTGAGC	0.572000													195	102					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28326973	28326973	+	Silent	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr15:28326973C>A	ENST00000354638.3	-	2	203	c.48G>T	c.(46-48)gcG>gcT	p.A16A	OCA2_ENST00000353809.5_Silent_p.A16A|OCA2_ENST00000382996.2_Silent_p.A16A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	16					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.A16A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGAGCTCCACCGCCGGCGCGC	0.662000									Oculocutaneous Albinism				20	18					3.51602e-12	4.0183e-12	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22154060	22154060	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:22154060C>A	ENST00000397126.4	-	4	3924	c.3776G>T	c.(3775-3777)gGc>gTc	p.G1259V	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.G1131V(4)|p.G1259V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAGGCTTTGCCACATTCTTC	0.378000													9	35					0.00448238	0.00455134	1	1	0
CXorf61	203413	broad.mit.edu	37	X	115593061	115593061	+	Silent	SNP	A	A	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:115593061A>G	ENST00000371894.4	-	2	335	c.189T>C	c.(187-189)tcT>tcC	p.S63S		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	63						integral to membrane|plasma membrane		p.S63S(3)		breast(1)|large_intestine(3)|lung(8)	12						AAATATCCCGAGAGAGGTCGT	0.403000													85	167					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54742922	54742922	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:54742922C>A	ENST00000396365.2	-	8	1392	c.1353G>T	c.(1351-1353)atG>atT	p.M451I	LILRA6_ENST00000245621.5_Missense_Mutation_p.M434I|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Intron	NM_024318.2	NP_077294.2			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.M451I(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGCCATGCCCATGCGGATGA	0.577000													26	40					2.04263e-09	2.22833e-09	1	1	0
WRAP53	55135	broad.mit.edu	37	17	7592605	7592605	+	Silent	SNP	C	C	T	rs147817526		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:7592605C>T	ENST00000316024.5	+	2	2843	c.495C>T	c.(493-495)agC>agT	p.S165S	WRAP53_ENST00000431639.2_Silent_p.S165S|WRAP53_ENST00000457584.2_Silent_p.S165S|WRAP53_ENST00000396463.2_Silent_p.S165S|WRAP53_ENST00000534050.1_Intron			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	165					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	p.S165S(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CAGAGTTCAGCACCCAACCTG	0.517000													54	66					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98449098	98449098	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:98449098C>T	ENST00000450876.1	-	6	2015	c.700G>A	c.(700-702)Gag>Aag	p.E234K	TMEM130_ENST00000416379.2_Missense_Mutation_p.E318K|TMEM130_ENST00000339375.4_Missense_Mutation_p.E318K|TMEM130_ENST00000546258.1_Missense_Mutation_p.E299K|TMEM130_ENST00000345589.4_Missense_Mutation_p.E216K			Q8N3G9	TM130_HUMAN	transmembrane protein 130	318						Golgi membrane|integral to membrane		p.E318K(2)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGATATTCTCGGCCCGGATG	0.592000													64	110					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181480554	181480554	+	Silent	SNP	G	G	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:181480554G>A	ENST00000526775.1	+	3	585	c.420G>A	c.(418-420)ggG>ggA	p.G140G	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Silent_p.G140G|CACNA1E_ENST00000367573.2_Silent_p.G140G|CACNA1E_ENST00000357570.5_Silent_p.G91G|CACNA1E_ENST00000367570.1_Silent_p.G140G|CACNA1E_ENST00000358338.5_Silent_p.G91G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	140					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G140G(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGAAGCTGGGATCAAAATTG	0.493000													174	384					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171257993	171257993	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:171257993G>T	ENST00000334231.6	+	18	1948	c.1948G>T	c.(1948-1950)Gcc>Tcc	p.A650S	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.A641S|MYO3B_ENST00000408978.4_Missense_Mutation_p.A641S			Q8WXR4	MYO3B_HUMAN	myosin IIIB	641	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.A641S(4)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGTTTCAGCTGCCTCTGTTCT	0.502000													56	38					4.32865e-36	6.31361e-36	1	1	0
TNR	7143	broad.mit.edu	37	1	175331945	175331945	+	Splice_Site	SNP	A	A	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:175331945A>C	ENST00000367674.1	-	14	3416	c.2707_splice	c.e14-1	p.V903_splice	TNR_ENST00000263525.2_Splice_Site_p.V903_splice	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	903	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.V903G(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TAGTCGTCCCACTGGAGAAGA	0.488000													53	137					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10910395	10910395	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr21:10910395A>T	ENST00000298232.7	-	21	1674	c.1307T>A	c.(1306-1308)cTt>cAt	p.L436H	TPTE_ENST00000342420.5_Missense_Mutation_p.L416H|TPTE_ENST00000361285.4_Missense_Mutation_p.L454H|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	454	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L436H(2)|p.L454H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATGTTATCAAGTACCTATGA	0.323000													26	106					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578469	7578469	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:7578469C>A	ENST00000420246.2	-	5	593	c.461G>T	c.(460-462)gGc>gTc	p.G154V	TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000269305.4_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	154	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACGCGGGTGCCGGGCGGGGG	0.607000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			45	64					1.47857e-17	1.80715e-17	1	1	0
MKI67	4288	broad.mit.edu	37	10	129904904	129904904	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:129904904T>A	ENST00000368654.3	-	13	5575	c.5200A>T	c.(5200-5202)Aaa>Taa	p.K1734*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1374*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1734	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.K1734*(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAGGATACTTTGGTAGTTTTT	0.488000													55	75					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426													16	1195	---	---	---	---					
PRAMEF6	440561	broad.mit.edu	37	1	13109019	13109020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:13109019_13109020insG	ENST00000376182.1	-	4	1348_1349	c.1249_1250insC	c.(1249-1251)ggafs	p.G417fs	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000414205.2_Frame_Shift_Ins_p.G417fs			Q5VXH4	PRAM6_HUMAN	PRAME family member 6	417										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACTCTCCCGGGGGGCAGGA	0.520													8	530	---	---	---	---					
NBPF1	55672	broad.mit.edu	37	1	16901653	16901654	+	Splice_Site	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:16901653_16901654insG	ENST00000430580.2	-	20	3077_3078	c.2192_splice	c.e20+1	p.PG730_splice	NBPF1_ENST00000432949.1_Splice_Site_p.PG188_splice|NBPF1_ENST00000287968.8_Splice_Site_p.PG95_splice	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	730	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGTGTTACCTGGGGGCAGACG	0.431													14	4017	---	---	---	---					
NBPF1	55672	broad.mit.edu	37	1	16914221	16914222	+	Splice_Site	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:16914221_16914222insG	ENST00000430580.2	-	10	1451_1452	c.566_splice	c.e10+1	p.PG188_splice		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	188	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGTGTTACCTGGGGGCAGATG	0.441													9	4060	---	---	---	---					
IGSF21	84966	broad.mit.edu	37	1	18554419	18554420	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:18554419_18554420insC	ENST00000251296.1	+	2	481_482	c.98_99insC	c.(97-99)cccfs	p.P33fs		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	33	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATTGAGCCTCTCCCCCCTGTGG	0.574													11	712	---	---	---	---					
NBPF3	84224	broad.mit.edu	37	1	21804665	21804666	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:21804665_21804666insC	ENST00000318220.6	+	12	1901_1902	c.853_854insC	c.(853-855)cccfs	p.P285fs	NBPF3_ENST00000342104.5_Frame_Shift_Ins_p.P366fs|NBPF3_ENST00000318249.5_Frame_Shift_Ins_p.P341fs|NBPF3_ENST00000454000.2_Frame_Shift_Ins_p.P271fs			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	341	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGAGGAGGAAGCCCCCCAGGAG	0.500													8	743	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								12	508	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													18	745	---	---	---	---					
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)gggfs	p.G310fs	KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	310	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.500													8	471	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:32673442_32673443insG	ENST00000537469.1	+	5	1447_1448	c.1400_1401insG	c.(1399-1401)tggfs	p.W467fs	IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.550													8	201	---	---	---	---					
AGO1	26523	broad.mit.edu	37	1	36359331	36359332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:36359331_36359332insG	ENST00000373204.4	+	5	782_783	c.569_570insG	c.(568-570)cggfs	p.R190fs	AGO1_ENST00000373206.1_Frame_Shift_Ins_p.R115fs	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		TACCACCCGCTGGGGGGTGGGC	0.634													7	241	---	---	---	---					
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:36935322_36935323insG	ENST00000373103.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)ccgcgcfs	p.R469fs	CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634													11	310	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42049248	42049249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:42049248_42049249insG	ENST00000372584.1	-	3	2234_2235	c.1220_1221insC	c.(1219-1221)caafs	p.Q407fs	HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.Q407fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.Q407fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.Q407fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	407	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGTTGGTGTTTGGGGGGCTGAC	0.594													11	355	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													10	722	---	---	---	---					
KDM4A	9682	broad.mit.edu	37	1	44156564	44156565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:44156564_44156565insC	ENST00000372396.3	+	14	2220_2221	c.2086_2087insC	c.(2086-2088)cccfs	p.P696fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	696					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAAG	0.470													11	683	---	---	---	---					
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-264)tccfs	p.S88fs	RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515													8	920	---	---	---	---					
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)tatfs	p.Y69fs	PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CCTTGAAATATCCCCCCAGTAC	0.381													9	1587	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)cttfs	p.L430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGACGATCAACGGGGGGGCCAC	0.540			Mis		ALL								11	210	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													10	210	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													24	407	---	---	---	---					
COL11A1	1301	broad.mit.edu	37	1	103352560	103352561	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:103352560_103352561insT	ENST00000358392.2	-	63	5013_5014	c.4696_4697insA	c.(4696-4698)gagfs	p.E1566fs	COL11A1_ENST00000370096.3_Frame_Shift_Ins_p.E1554fs|COL11A1_ENST00000512756.1_Frame_Shift_Ins_p.E1438fs|COL11A1_ENST00000353414.4_Frame_Shift_Ins_p.E1515fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1554					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATGTCTTCTCGTTTTTTTGGAG	0.386													7	227	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													25	491	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													15	397	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					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			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)					TCTGAGGTTTGCCCCCCGCCAG	0.500													11	543	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													10	328	---	---	---	---					
KPRP	448834	broad.mit.edu	37	1	152732677	152732678	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:152732677_152732678insC	ENST00000368773.1	+	2	671_672	c.613_614insC	c.(613-615)cccfs	p.P205fs	KPRP_ENST00000606109.1_Frame_Shift_Ins_p.P205fs	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	205	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAACAACTACACCCCCCAGTTC	0.574													14	525	---	---	---	---					
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:153317810_153317811insC	ENST00000368739.3	-	4	533_534	c.175_176insG	c.(175-177)agafs	p.R59fs	PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCTTCTGCCCCCCATGCC	0.589													7	784	---	---	---	---					
S100A8	6279	broad.mit.edu	37	1	153362604	153362605	+	Frame_Shift_Ins	INS	-	-	T	rs150732741		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:153362604_153362605insT	ENST00000368733.3	-	3	425_426	c.256_257insA	c.(256-258)ccafs	p.P86fs	S100A8_ENST00000368732.1_Frame_Shift_Ins_p.P86fs	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	86				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).	chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTTCATGGCTTTTTTTGTGG	0.480													7	317	---	---	---	---					
TDRD10	126668	broad.mit.edu	37	1	154493907	154493908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:154493907_154493908insC	ENST00000368482.4	+	6	1159_1160	c.321_322insC	c.(319-324)agccccfs	p.SP107fs	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	107	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGAG	0.520													8	483	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)cccfs	p.P282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.460													10	1675	---	---	---	---					
SPTA1	6708	broad.mit.edu	37	1	158596702	158596702	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:158596702delC	ENST00000368148.3	-	41	5940	c.5760delG	c.(5758-5760)tgfs	p.W1920fs	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Frame_Shift_Del_p.W1917fs	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1920					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTGCAACTTCCAAGCAGCTA	0.463													205	424	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)ccagaafs	p.E234fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569													8	290	---	---	---	---					
IGSF8	93185	broad.mit.edu	37	1	160063924	160063925	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:160063924_160063925insG	ENST00000368086.1	-	3	695_696	c.479_480insC	c.(478-480)cggfs	p.R160fs	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Frame_Shift_Ins_p.R160fs			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	160					cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCGGGGCCCTGGGGGGGCAGC	0.653													7	37	---	---	---	---					
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158	byFrequency	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:167654710_167654711insC	ENST00000367854.3	+	3	492_493	c.161_162insC	c.(160-162)tccfs	p.S54fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554													10	177	---	---	---	---					
FMO1	2326	broad.mit.edu	37	1	171227337	171227338	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:171227337_171227338insG	ENST00000354841.4	+	1	242_243	c.111_112insG	c.(109-114)ctggggfs	p.LG37fs	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Frame_Shift_Ins_p.LG37fs|FMO1_ENST00000402921.2_Frame_Shift_Ins_p.LG37fs			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	37					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCGATGACCTTGGGGGGCTGTG	0.530													8	385	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.470													11	583	---	---	---	---					
DHX9	1660	broad.mit.edu	37	1	182852697	182852698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:182852697_182852698insC	ENST00000367549.3	+	26	3297_3298	c.3187_3188insC	c.(3187-3189)cccfs	p.P1063fs	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1063				T -> P (in Ref. 1; AAB48855 and 2; CAA71668).	CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GACTTTAGTCACCCCCCTGCAG	0.441													8	503	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525													13	352	---	---	---	---					
TMEM81	388730	broad.mit.edu	37	1	205052693	205052694	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:205052693_205052694insC	ENST00000367167.3	-	1	951_952	c.755_756insG	c.(754-756)gctfs	p.A252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACTGCTGCAGGCCCCCCCTTAG	0.540													9	263	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													16	605	---	---	---	---					
ROCK2	9475	broad.mit.edu	37	2	11389836	11389837	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:11389836_11389837insA	ENST00000315872.6	-	4	860_861	c.412_413insT	c.(412-414)ggafs	p.G138fs	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	138	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTTTCTTCCCAAAAAAAGGCA	0.356													7	791	---	---	---	---					
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:75104377_75104378insG	ENST00000290573.2	+	8	1560_1561	c.960_961insG	c.(958-963)ttggggfs	p.LG320fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	320	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTGCTCTTTGGGGGGAAGCT	0.545													8	688	---	---	---	---					
USP39	10713	broad.mit.edu	37	2	85866422	85866423	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:85866422_85866423insC	ENST00000323701.6	+	9	1202_1203	c.1192_1193insC	c.(1192-1194)cccfs	p.P398fs	USP39_ENST00000450066.2_Frame_Shift_Ins_p.P295fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.P398fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.P398fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Frame_Shift_Ins_p.P398fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	398					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCTTCCTACTGCCCCCCTCTAC	0.505													7	423	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													12	751	---	---	---	---					
NCKAP5	344148	broad.mit.edu	37	2	133541083	133541084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:133541083_133541084insG	ENST00000409261.1	-	14	3673_3674	c.3300_3301insC	c.(3298-3303)ccagccfs	p.A1101fs	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.A1101fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1101	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGGAAGGCTTGGGGGGTGTGG	0.505													13	779	---	---	---	---					
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)aagfs	p.K749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCTTTACTTGCCCCCCGAAAG	0.485													10	426	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													9	377	---	---	---	---					
OSBPL6	114880	broad.mit.edu	37	2	179196280	179196281	+	Splice_Site	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:179196280_179196281insT	ENST00000190611.4	+	6	696_697	c.318_splice	c.e6-1	p.L107_splice	OSBPL6_ENST00000409631.1_Splice_Site_p.L107_splice|OSBPL6_ENST00000357080.4_Splice_Site_p.L107_splice|OSBPL6_ENST00000409045.3_Splice_Site_p.L107_splice|OSBPL6_ENST00000315022.2_Splice_Site_p.L86_splice|OSBPL6_ENST00000392505.2_Splice_Site_p.L107_splice|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000359685.3_Splice_Site_p.L107_splice	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	107	PH.				lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCTTGCAGCGTTTTTTTGTCC	0.361													8	511	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													8	244	---	---	---	---					
ALS2	57679	broad.mit.edu	37	2	202588159	202588160	+	Frame_Shift_Ins	INS	-	-	C	rs41309046		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:202588159_202588160insC	ENST00000264276.6	-	22	3889_3890	c.3517_3518insG	c.(3517-3519)aaafs	p.K1173fs	ALS2_ENST00000457679.2_Frame_Shift_Ins_p.K485fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1173					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CATATACTTTTCCCCCCTGCAC	0.406													7	561	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													13	197	---	---	---	---					
VIL1	7429	broad.mit.edu	37	2	219301230	219301231	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:219301230_219301231insC	ENST00000248444.5	+	16	1940_1941	c.1852_1853insC	c.(1852-1854)cccfs	p.P618fs	VIL1_ENST00000392114.2_Frame_Shift_Ins_p.P307fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	618	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGTCATCACCCCCCGGCTC	0.500													13	379	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													7	122	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													10	440	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													16	465	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													17	428	---	---	---	---					
GPR156	165829	broad.mit.edu	37	3	119885959	119885960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:119885959_119885960insC	ENST00000464295.1	-	10	2809_2810	c.2364_2365insG	c.(2362-2367)ggtggcfs	p.G789fs	GPR156_ENST00000315843.3_Frame_Shift_Ins_p.G789fs|GPR156_ENST00000461057.1_Frame_Shift_Ins_p.G785fs			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	789						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CAGGAAGCCAGCCCCCCAGTAG	0.550													7	332	---	---	---	---					
IFT122	55764	broad.mit.edu	37	3	129183576	129183577	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:129183576_129183577insG	ENST00000296266.3	+	8	860_861	c.668_669insG	c.(667-669)cggfs	p.R223fs	IFT122_ENST00000440957.2_Frame_Shift_Ins_p.R22fs|IFT122_ENST00000504021.1_Frame_Shift_Ins_p.R125fs|IFT122_ENST00000507564.1_Frame_Shift_Ins_p.R223fs|IFT122_ENST00000431818.2_Frame_Shift_Ins_p.R22fs|IFT122_ENST00000347300.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000348417.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000349441.2_Frame_Shift_Ins_p.R120fs	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	172					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.P223P(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATCGAGCGGCCGGGGGGCTCCC	0.505													7	271	---	---	---	---					
PIK3CB	5291	broad.mit.edu	37	3	138413709	138413710	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:138413709_138413710insG	ENST00000477593.1	-	13	1883_1884	c.1810_1811insC	c.(1810-1812)ggafs	p.G604fs	PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.G604fs|PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.G50fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAGGGCCTCCCGGGGGGGCAGT	0.465													7	121	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													8	719	---	---	---	---					
FNDC3B	64778	broad.mit.edu	37	3	172096209	172096210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:172096209_172096210insC	ENST00000336824.4	+	24	3257_3258	c.3158_3159insC	c.(3157-3159)gccfs	p.A1053fs	FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.A1053fs|FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.A1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1053						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACCAAAAGTGTCCCCCCCACCA	0.470													7	191	---	---	---	---					
CPEB2	132864	broad.mit.edu	37	4	15067857	15067858	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:15067857_15067858insT	ENST00000538197.1	+	12	2958_2959	c.2958_2959insT	c.(2956-2961)ccttttfs	p.PF986fs	CPEB2_ENST00000382401.3_Frame_Shift_Ins_p.PF514fs|CPEB2_ENST00000507071.1_Frame_Shift_Ins_p.PF541fs|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382395.3_Frame_Shift_Ins_p.PF519fs|CPEB2_ENST00000345451.3_Frame_Shift_Ins_p.PF511fs|CPEB2_ENST00000442003.2_Frame_Shift_Ins_p.PF959fs|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000541112.1_Frame_Shift_Ins_p.PF978fs|CPEB2_ENST00000259997.5_Frame_Shift_Ins_p.PF549fs	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	541					regulation of translation	cytoplasm	nucleotide binding|RNA binding	p.P541P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AATTTGCTCCCTTTTTTTGTGC	0.441													8	968	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)catfs	p.H464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515													7	350	---	---	---	---					
CNGA1	1259	broad.mit.edu	37	4	47939171	47939172	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:47939171_47939172insT	ENST00000402813.3	-	10	1688_1689	c.1546_1547insA	c.(1546-1548)agtfs	p.S516fs	CNGA1_ENST00000514170.1_Frame_Shift_Ins_p.S447fs|CNGA1_ENST00000358519.4_Frame_Shift_Ins_p.S447fs|CNGA1_ENST00000420489.2_Frame_Shift_Ins_p.S447fs|CNGA1_ENST00000544810.1_Frame_Shift_Ins_p.S447fs			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	447					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTCATCAACTGTTTTTTTGTTG	0.327													7	802	---	---	---	---					
ABCG2	9429	broad.mit.edu	37	4	89052270	89052271	+	Frame_Shift_Ins	INS	-	-	T	rs150450599	byFrequency	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:89052270_89052271insT	ENST00000237612.3	-	5	1018_1019	c.473_474insA	c.(472-474)agafs	p.R158fs	ABCG2_ENST00000515655.1_Frame_Shift_Ins_p.R158fs	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	158	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAATCCGTTCGTTTTTTTCATG	0.426													8	1241	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													11	1130	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:96091356_96091357insG	ENST00000453304.1	-	15	2926_2927	c.2578_2579insC	c.(2578-2580)gacfs	p.D860fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	860	Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCCTCTCGTCTGGGGGGCATCC	0.599													9	555	---	---	---	---					
C4orf17	84103	broad.mit.edu	37	4	100443777	100443778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:100443777_100443778insC	ENST00000514652.1	+	3	602_603	c.248_249insC	c.(247-249)tccfs	p.S83fs	C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000326581.4_Frame_Shift_Ins_p.S83fs			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	83										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AATTGCAGTTACCCCTCCAGCA	0.500													15	412	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)gggfs	p.G3454fs	ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3421					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCCTGCAGGGGGGGCACG	0.455													10	191	---	---	---	---					
SYNPO2	171024	broad.mit.edu	37	4	119978597	119978598	+	Frame_Shift_Ins	INS	-	-	C	rs140355913		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:119978597_119978598insC	ENST00000307142.4	+	5	3490_3491	c.3294_3295insC	c.(3292-3297)ccccccfs	p.PP1098fs	SYNPO2_ENST00000448416.2_Frame_Shift_Ins_p.P100fs	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	756						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GATCAGTCCCACCCCCCATTTC	0.411													12	405	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.450													12	669	---	---	---	---					
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:186515043_186515044insC	ENST00000431808.1	-	20	3693_3694	c.3130_3131insG	c.(3130-3132)accfs	p.T1044fs	SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356													8	199	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			7	1334	---	---	---	---					
MED10	84246	broad.mit.edu	37	5	6372635	6372636	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:6372635_6372636insC	ENST00000255764.3	-	4	498_499	c.388_389insG	c.(388-390)ggafs	p.G130fs		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	130					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						CGGGTGATCCTCCCCCCGGATG	0.495													7	456	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)gggfs	p.G101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													8	196	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)ggcatgfs	p.M325fs	FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.540													7	222	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)acgfs	p.T595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.500													9	414	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													11	275	---	---	---	---					
EPB41L4A	64097	broad.mit.edu	37	5	111519753	111519754	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:111519753_111519754insT	ENST00000261486.5	-	18	1857_1858	c.1581_1582insA	c.(1579-1584)caccgafs	p.HR527fs	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	527						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTGGGGTCGGCTTGGTTTTTTT	0.431													10	528	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)ccaagtfs	p.S880fs	SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604													7	350	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													11	504	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													11	1429	---	---	---	---					
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:133473764_133473765insC	ENST00000395029.1	+	4	651_652	c.456_457insC	c.(454-459)caccccfs	p.HP152fs	TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	152					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574													7	100	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													7	383	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)ccagtcfs	p.V224fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.480													15	291	---	---	---	---					
ARHGAP26	23092	broad.mit.edu	37	5	142586762	142586763	+	Splice_Site	INS	-	-	C	rs144777273		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:142586762_142586763insC	ENST00000378004.3	+	21	2343_2344		c.e21-1		ARHGAP26_ENST00000274498.4_Splice_Site|ARHGAP26_ENST00000486650.1_Intron	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCTTGCAGCCCCCCGAATC	0.579													7	366	---	---	---	---					
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)gaafs	p.E397fs	PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.500													8	701	---	---	---	---					
FNDC9	408263	broad.mit.edu	37	5	156769909	156769910	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:156769909_156769910insC	ENST00000312349.4	-	2	822_823	c.635_636insG	c.(634-636)gggfs	p.G212fs	CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000522463.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	212						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTGGGTCACCACCCCCCCTCTG	0.584											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	198	---	---	---	---					
GABRA6	2559	broad.mit.edu	37	5	161116011	161116012	+	Frame_Shift_Ins	INS	-	-	G	rs143274925		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:161116011_161116012insG	ENST00000523217.1	+	4	494_495	c.252_253insG	c.(250-255)ttggggfs	p.LG84fs	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Frame_Shift_Ins_p.LG94fs	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	94					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTGAAGTTTGGGGGGCCAAC	0.406										TCGA Ovarian(5;0.080)			9	584	---	---	---	---					
DOCK2	1794	broad.mit.edu	37	5	169141139	169141140	+	Frame_Shift_Ins	INS	-	-	G	rs34864600	byFrequency	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:169141139_169141140insG	ENST00000256935.8	+	18	1847_1848	c.1767_1768insG	c.(1765-1770)gtggggfs	p.VG589fs	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Ins_p.VG81fs	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	589	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGCAGTGTTGGGGGGCTTTC	0.545													9	353	---	---	---	---					
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)cctfs	p.P526fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515													10	1508	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													22	341	---	---	---	---					
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:17837307_17837308insC	ENST00000378814.5	-	11	955_956	c.956_957insG	c.(955-957)gaafs	p.E319fs	KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	319					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGCTGTTGCCCCCCAAGTT	0.450													11	359	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													20	2420	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)gccfs	p.A939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTAGGGCAGGGGGGGCCCA	0.569													10	245	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													17	416	---	---	---	---					
GPSM3	63940	broad.mit.edu	37	6	32159157	32159158	+	Frame_Shift_Ins	INS	-	-	G	rs149772913	byFrequency	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:32159157_32159158insG	ENST00000375040.3	-	4	860_861	c.468_469insC	c.(466-471)cccacafs	p.T157fs	GPSM3_ENST00000375043.3_Frame_Shift_Ins_p.T157fs|GPSM3_ENST00000487761.1_Frame_Shift_Ins_p.T154fs	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	157					signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						CAGGTGTGTGTGGGGGGCCGGG	0.634													7	352	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													8	1327	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)cccfs	p.P308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.540			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	192	---	---	---	---					
SLC17A5	26503	broad.mit.edu	37	6	74351590	74351590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:74351590delA	ENST00000355773.5	-	3	617	c.349delT	c.(349-351)atfs	p.Y117fs	SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.Y117fs	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	117					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGTAGCCATAAAAAAAGGAA	0.423													7	314	---	---	---	---					
GJA10	84694	broad.mit.edu	37	6	90605805	90605805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:90605805delA	ENST00000369352.1	+	1	1618	c.1618delA	c.(1618-1620)aafs	p.K540fs		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	540					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ACATTCAGTTAAATTCAATTC	0.338													23	66	---	---	---	---					
PRDM1	639	broad.mit.edu	37	6	106553068	106553069	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:106553068_106553069insA	ENST00000369096.4	+	5	1267_1268	c.1033_1034insA	c.(1033-1035)aagfs	p.K345fs	PRDM1_ENST00000369091.2_Frame_Shift_Ins_p.K309fs|PRDM1_ENST00000369089.3_Frame_Shift_Ins_p.K211fs	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	345					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CAGCCCCGACCAAAGCCTCAAG	0.619			"""D, N, Mis, F, S"""		DLBCL								26	63	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													27	668	---	---	---	---					
AHI1	54806	broad.mit.edu	37	6	135784283	135784284	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:135784283_135784284insT	ENST00000367800.4	-	6	1126_1127	c.910_911insA	c.(910-912)aaafs	p.K304fs	AHI1_ENST00000457866.2_Frame_Shift_Ins_p.K304fs|AHI1_ENST00000327035.6_Frame_Shift_Ins_p.K304fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	304						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTCTTTTTTGTTTTTTTTGGT	0.307													11	313	---	---	---	---					
MTHFD1L	25902	broad.mit.edu	37	6	151358163	151358164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:151358163_151358164insA	ENST00000367321.3	+	26	3031_3032	c.2757_2758insA	c.(2755-2760)gaaaaafs	p.EK919fs		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	919	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	p.L914fs*14(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCAACCTGACAAAAAAGGTGT	0.480													13	309	---	---	---	---					
MAP3K4	4216	broad.mit.edu	37	6	161455390	161455391	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:161455390_161455391insC	ENST00000392142.4	+	2	400_401	c.252_253insC	c.(250-255)tcccccfs	p.SP84fs	MAP3K4_ENST00000366920.2_Frame_Shift_Ins_p.SP84fs|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000348824.7_Frame_Shift_Ins_p.SP84fs|MAP3K4_ENST00000366919.2_Frame_Shift_Ins_p.SP84fs	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	84					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATGGTACCTCTCCCCCCAGCAC	0.475													7	217	---	---	---	---					
AGPAT4	56895	broad.mit.edu	37	6	161560588	161560589	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:161560588_161560589insG	ENST00000320285.4	-	8	1119_1120	c.907_908insC	c.(907-909)gcgfs	p.A303fs	AGPAT4_ENST00000457520.2_Frame_Shift_Ins_p.A141fs|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	303					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.R303fs*7(2)|p.R303fs*60(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCAGGGCCGCCGGGGGGGCACC	0.629													8	100	---	---	---	---					
ANLN	54443	broad.mit.edu	37	7	36438715	36438716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:36438715_36438716insA	ENST00000265748.2	+	3	421_422	c.200_201insA	c.(199-201)taafs	p.*67fs	ANLN_ENST00000396068.2_Frame_Shift_Ins_p.*67fs	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	67	Interaction with CD2AP.|Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CCATCGCCATCAAAAAAACGCT	0.347													7	219	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11241)aggfs	p.R3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid								21	300	---	---	---	---					
TRRAP	8295	broad.mit.edu	37	7	98592294	98592295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:98592294_98592295insC	ENST00000359863.4	+	66	10299_10300	c.10090_10091insC	c.(10090-10092)cccfs	p.P3364fs	TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P3353fs|TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P3335fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3364					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTAAAATCACCCCCCACACT	0.540													7	555	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100285169	100285170	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:100285169_100285170insG	ENST00000275732.5	-	4	1540_1541	c.331_332insC	c.(331-333)ggcfs	p.G111fs	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	111								p.L111fs*234(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGTGCCAGCCAGGGGGGGGCCA	0.673													3	4	---	---	---	---					
SVOPL	136306	broad.mit.edu	37	7	138312995	138312996	+	Frame_Shift_Ins	INS	-	-	C	rs79662895		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:138312995_138312996insC	ENST00000421622.1	-	7	824_825	c.616_617insG	c.(616-618)ctcfs	p.L206fs	SVOPL_ENST00000419765.3_Frame_Shift_Ins_p.L326fs|SVOPL_ENST00000288513.5_Frame_Shift_Ins_p.L174fs|SVOPL_ENST00000436657.1_Frame_Shift_Ins_p.L174fs			Q8N434	SVOPL_HUMAN	SVOP-like	326						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCCCCTGAGTCCCCCCCAGTC	0.554													8	154	---	---	---	---					
KDM7A	80853	broad.mit.edu	37	7	139820279	139820280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:139820279_139820280insC	ENST00000397560.2	-	8	1198_1199	c.1101_1102insG	c.(1099-1104)ggacttfs	p.L368fs	JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.L368fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		368	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGCAGGAAGTTCCCCCCAAAAG	0.356													8	195	---	---	---	---					
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:142639979_142639980insC	ENST00000355265.2	-	17	2397_2398	c.1923_1924insG	c.(1921-1926)ggtagcfs	p.S642fs		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	642					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCGATGGCTAGCCCCCCAACGT	0.500													15	885	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													16	566	---	---	---	---					
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1678-1683)gcccccfs	p.AP560fs	DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	560					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	356	---	---	---	---					
UNC5D	137970	broad.mit.edu	37	8	35584019	35584020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:35584019_35584020insG	ENST00000287272.2	+	9	1466_1467	c.1446_1447insG	c.(1444-1449)ttggggfs	p.LG482fs	UNC5D_ENST00000404895.2_Frame_Shift_Ins_p.LG551fs|UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.LG546fs|UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.LG484fs|UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.LG556fs|UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.LG127fs			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	551					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGGCCATTTAGGGGGGCGCTT	0.411													8	547	---	---	---	---					
MYBL1	4603	broad.mit.edu	37	8	67488452	67488453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:67488452_67488453insT	ENST00000522677.3	-	10	1669_1670	c.1259_1260insA	c.(1258-1260)aacfs	p.N420fs	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Frame_Shift_Ins_p.N420fs	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	420	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CATTACAAGTGTTTTTTTTCCC	0.406													22	1103	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													15	341	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480091	73480092	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:73480091_73480092insG	ENST00000523207.1	+	2	710_711	c.122_123insG	c.(121-123)gggfs	p.G41fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	41					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGATCAATGTGGGGGGCCTCA	0.564													7	397	---	---	---	---					
LY96	23643	broad.mit.edu	37	8	74903692	74903693	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:74903692_74903693insT	ENST00000284818.2	+	1	106_107	c.15_16insT	c.(13-18)ctttttfs	p.LF5fs	LY96_ENST00000518893.1_Frame_Shift_Ins_p.LF5fs	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	5					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TACCATTTCTGTTTTTTTCCAC	0.366													7	679	---	---	---	---					
RBM12B	389677	broad.mit.edu	37	8	94746932	94746933	+	Frame_Shift_Ins	INS	-	-	G	rs150172581	by1000genomes	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:94746932_94746933insG	ENST00000399300.2	-	3	1919_1920	c.1706_1707insC	c.(1705-1707)cgafs	p.R569fs	RBM12B_ENST00000517700.1_Frame_Shift_Ins_p.R569fs|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	569							nucleotide binding|RNA binding	p.P569R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGAAGTCCTCCGGGGGGAACCT	0.584													7	230	---	---	---	---					
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gag>ga	p.EE50del	TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptosis	PML body		p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458													7	274	---	---	---	---					
ASAP1	50807	broad.mit.edu	37	8	131104241	131104242	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr8:131104241_131104242insG	ENST00000357668.1	-	24	2576_2577	c.2549_2550insC	c.(2548-2550)caafs	p.Q850fs	ASAP1_ENST00000518721.1_Frame_Shift_Ins_p.Q850fs			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	850	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			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						CGCCTTTGTTTGGGGGCCCATG	0.614													10	936	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccttcfs	p.F788fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604													9	124	---	---	---	---					
PHF2	5253	broad.mit.edu	37	9	96439004	96439005	+	In_Frame_Ins	INS	-	-	CCTGCCTCCACCACA	rs75653373	by1000genomes	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr9:96439004_96439005insCCTGCCTCCACCACA	ENST00000359246.4	+	21	3328_3329	c.2961_2962insCCTGCCTCCACCACA	c.(2959-2964)accggc>acCCTGCCTCCACCACAcggc	p.987_988TG>TLPPPHG	PHF2_ENST00000375376.4_In_Frame_Ins_p.218_219TG>TLPPPHG	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	987	Ser/Thr-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.T987_P988insPASTT(1)|p.T987T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		cctctaccaccccggcctccac	0.688													5	0	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													9	377	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109686947	109686948	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr9:109686947_109686948insC	ENST00000277225.5	+	3	1043_1044	c.754_755insC	c.(754-756)cccfs	p.P252fs	ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.P252fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	252					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGCTACCAGACCCCCCGCCGA	0.505													7	328	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5409)tggfs	p.W1803fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.550													8	236	---	---	---	---					
CCBL1	883	broad.mit.edu	37	9	131600392	131600393	+	Frame_Shift_Ins	INS	-	-	A	rs34879109		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr9:131600392_131600393insA	ENST00000436267.2	-	7	806_807	c.657_658insT	c.(655-660)ttactgfs	p.LL219fs	CCBL1_ENST00000320665.6_Frame_Shift_Ins_p.LL75fs|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Frame_Shift_Ins_p.LL125fs			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	125					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	TCGTAGCAGTCAAAAAAGGGTT	0.535													7	136	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	16877089	16877090	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:16877089_16877090insG	ENST00000377833.4	-	64	10350_10351	c.10285_10286insC	c.(10285-10287)gaafs	p.E3429fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3429	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGTGGTTCTGGGGGGCTGTG	0.450													8	540	---	---	---	---					
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:21962451_21962452insG	ENST00000377072.3	+	11	1572_1573	c.1224_1225insG	c.(1222-1227)gaggggfs	p.EG408fs	MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	408	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL								11	370	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)tttfs	p.F421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.480													7	650	---	---	---	---					
CUTC	51076	broad.mit.edu	37	10	101499503	101499504	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:101499503_101499504insG	ENST00000370476.5	+	3	299_300	c.170_171insG	c.(169-171)gggfs	p.G57fs	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	57					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGTTTATCAGAGGGGGGAACTA	0.401													7	441	---	---	---	---					
PAX2	5076	broad.mit.edu	37	10	102584451	102584452	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:102584451_102584452insC	ENST00000370296.2	+	9	1585_1586	c.1035_1036insC	c.(1033-1038)gtccccfs	p.VP345fs	PAX2_ENST00000355243.3_Frame_Shift_Ins_p.VP322fs|PAX2_ENST00000428433.1_Frame_Shift_Ins_p.VP345fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.VP321fs|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.VP322fs			Q02962	PAX2_HUMAN	paired box 2	345					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCCCTCACGTGCCCCCCACTGG	0.609													7	182	---	---	---	---					
PPRC1	23082	broad.mit.edu	37	10	103906659	103906660	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:103906659_103906660insC	ENST00000278070.2	+	9	3949_3950	c.3910_3911insC	c.(3910-3912)cccfs	p.P1304fs	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.P271fs|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCGGAGCAGGACCCCCCCAAAA	0.569													7	102	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													8	189	---	---	---	---					
STK33	65975	broad.mit.edu	37	11	8414087	8414088	+	In_Frame_Ins	INS	-	-	CCAGAA			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:8414087_8414088insCCAGAA	ENST00000447869.1	-	12	2432_2433	c.1514_1515insTTCTGG	c.(1513-1515)ggc>gTTCTGGgc	p.504_505insVL	STK33_ENST00000315204.1_In_Frame_Ins_p.504_505insVL|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_In_Frame_Ins_p.317_318insVL|STK33_ENST00000396673.1_In_Frame_Ins_p.438_439insVL|STK33_ENST00000396672.1_In_Frame_Ins_p.504_505insVL|STK33_ENST00000534493.1_In_Frame_Ins_p.463_464insVL			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	504						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGGACAGGGCGCCGGATTTAGC	0.480													43	248	---	---	---	---					
DENND5A	23258	broad.mit.edu	37	11	9167316	9167317	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:9167316_9167317insC	ENST00000328194.3	-	17	3223_3224	c.2903_2904insG	c.(2902-2904)gtcfs	p.V968fs	DENND5A_ENST00000527700.1_Frame_Shift_Ins_p.V311fs|DENND5A_ENST00000530044.1_Frame_Shift_Ins_p.V968fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	968	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAACATGGAGCCCCCCAGCTT	0.480													10	1030	---	---	---	---					
CTR9	9646	broad.mit.edu	37	11	10785261	10785262	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:10785261_10785262insT	ENST00000361367.2	+	9	1455_1456	c.1029_1030insT	c.(1027-1032)ccttttfs	p.PF343fs		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	343					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTGTGCTCCCATTTTTTGGTTT	0.342													7	267	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)aacfs	p.N202fs	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	202					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.450													8	669	---	---	---	---					
SLC1A2	6506	broad.mit.edu	37	11	35313880	35313881	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:35313880_35313881insA	ENST00000278379.3	-	7	1326_1327	c.1044_1045insT	c.(1042-1047)ttctggfs	p.W349fs	SLC1A2_ENST00000395753.1_Frame_Shift_Ins_p.W340fs|SLC1A2_ENST00000606205.1_Frame_Shift_Ins_p.W349fs|SLC1A2_ENST00000395750.1_Frame_Shift_Ins_p.W340fs	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	349					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AAAATGCCAGCAAAAAAGGAGA	0.470													9	1097	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.520													37	1108	---	---	---	---					
C11orf49	79096	broad.mit.edu	37	11	47074000	47074001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:47074000_47074001insC	ENST00000395460.2	+	3	249_250	c.211_212insC	c.(211-213)cccfs	p.P71fs	C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000278460.7_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.P71fs	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	71										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CGTCCAAGCCACCCCCCACAAT	0.441													7	376	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													13	1149	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													9	248	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	128	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421													7	435	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													10	566	---	---	---	---					
CTD-3074O7.11	0	broad.mit.edu	37	11	66299155	66299156	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:66299155_66299156insC	ENST00000419755.3	+	16	1826_1827	c.1748_1749insC	c.(1747-1749)tccfs	p.S583fs	BBS1_ENST00000455748.2_Frame_Shift_Ins_p.S449fs|BBS1_ENST00000318312.7_Frame_Shift_Ins_p.S546fs|BBS1_ENST00000393994.2_Frame_Shift_Ins_p.S417fs|ZDHHC24_ENST00000526986.1_Intron																							GGGCTCAACTACCCCCTGGAGA	0.540													8	903	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)tgcfs	p.C9fs	NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	9					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL								8	398	---	---	---	---					
KIAA1377	57562	broad.mit.edu	37	11	101828931	101828932	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:101828931_101828932insA	ENST00000263468.8	+	5	809_810	c.539_540insA	c.(538-540)taafs	p.*180fs	KIAA1377_ENST00000537689.1_5'UTR	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	180							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCCGCATTATCAAAAAATGATC	0.332													7	1888	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													18	665	---	---	---	---					
TTC12	54970	broad.mit.edu	37	11	113210159	113210160	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:113210159_113210160insG	ENST00000393020.1	+	10	1194_1195	c.789_790insG	c.(787-792)gcggggfs	p.AG263fs	TTC12_ENST00000529221.1_Frame_Shift_Ins_p.AG263fs|TTC12_ENST00000483239.2_Frame_Shift_Ins_p.AG269fs|TTC12_ENST00000314756.3_Frame_Shift_Ins_p.AG263fs			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	263							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGTTCTATGCTGGGGGGATTGA	0.500													9	625	---	---	---	---					
DSCAML1	57453	broad.mit.edu	37	11	117321331	117321332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:117321331_117321332insG	ENST00000321322.6	-	20	3822_3823	c.3821_3822insC	c.(3820-3822)cacfs	p.H1274fs	DSCAML1_ENST00000527706.1_Frame_Shift_Ins_p.H1004fs	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1214	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGGCTTGGTAGGGGGGAGCCA	0.589													7	363	---	---	---	---					
JAM3	83700	broad.mit.edu	37	11	134018467	134018468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:134018467_134018468insG	ENST00000299106.4	+	7	897_898	c.738_739insG	c.(736-741)atggggfs	p.MG246fs	JAM3_ENST00000529443.2_Frame_Shift_Ins_p.MG291fs|JAM3_ENST00000441717.3_Frame_Shift_Ins_p.MG195fs			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	246					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCGGAATTATTGGGGGGGTTCT	0.485													18	365	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													11	682	---	---	---	---					
KLHL42	57542	broad.mit.edu	37	12	27950768	27950769	+	Frame_Shift_Ins	INS	-	-	G	rs145908611	byFrequency	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:27950768_27950769insG	ENST00000381271.2	+	3	1498_1499	c.1187_1188insG	c.(1186-1188)gggfs	p.G396fs		NM_020782.1	NP_065833.1			kelch-like family member 42																		ATCTACATCGTGGGGGGGTGTC	0.594													7	196	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)cccfs	p.P647fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATACCTCAGGTGGGGGGGACAT	0.634													8	169	---	---	---	---					
KRT79	338785	broad.mit.edu	37	12	53215777	53215778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:53215777_53215778insC	ENST00000330553.5	-	9	1520_1521	c.1486_1487insG	c.(1486-1488)cacfs	p.H496fs		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	496	Tail.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCTTGGTGGCCCCCCCACTC	0.619													8	85	---	---	---	---					
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)cccfs	p.P520fs	PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGAAGAAGAGGCCCCCCCATCC	0.559													10	337	---	---	---	---					
OR6C74	254783	broad.mit.edu	37	12	55641385	55641386	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:55641385_55641386insG	ENST00000343870.4	+	1	404_405	c.314_315insG	c.(313-315)tggfs	p.W105fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ACTATTCTCTTGGGGGCAACTG	0.441													8	1205	---	---	---	---					
OR6C4	341418	broad.mit.edu	37	12	55945453	55945454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:55945453_55945454insG	ENST00000394256.2	+	1	471_472	c.443_444insG	c.(442-444)tggfs	p.W148fs	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TGCTCCTGGTTGGGGGGATTCC	0.455													7	685	---	---	---	---					
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2167-2172)ccccccfs	p.PP723fs	DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579													16	311	---	---	---	---					
ESYT1	23344	broad.mit.edu	37	12	56531341	56531342	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:56531341_56531342insG	ENST00000394048.5	+	18	2261_2262	c.1997_1998insG	c.(1996-1998)tggfs	p.W666fs	ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.W676fs|ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.W676fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	666	C2 3.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GACCGTTTCTTGGGGGGACTGG	0.550													8	376	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56559112	56559113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:56559112_56559113insG	ENST00000394023.3	-	27	3326_3327	c.3221_3222insC	c.(3220-3222)cggfs	p.R1074fs	SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1043fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1074fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1074fs|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CATGGGGTCCAGGGGGGGGAAC	0.574													8	138	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													10	170	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57114417	57114418	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:57114417_57114418insG	ENST00000454682.1	-	3	1177_1178	c.896_897insC	c.(895-897)cgafs	p.R299fs	NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.R299fs|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGAAAATCTGGGGGGGTGTT	0.490			T	BCL6	NHL								7	88	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4459-4464)taggggfs	p.*G1487fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589													8	181	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599													20	530	---	---	---	---					
PPFIA2	8499	broad.mit.edu	37	12	81741386	81741387	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:81741386_81741387insG	ENST00000550584.2	-	17	2452_2453	c.2157_2158insC	c.(2155-2160)ccgtggfs	p.W720fs	PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000407050.4_Frame_Shift_Ins_p.W646fs|PPFIA2_ENST00000541570.2_Frame_Shift_Ins_p.W287fs|PPFIA2_ENST00000333447.7_Frame_Shift_Ins_p.W702fs|PPFIA2_ENST00000549396.1_Frame_Shift_Ins_p.W720fs|PPFIA2_ENST00000443686.3_Frame_Shift_Ins_p.W621fs|PPFIA2_ENST00000550359.2_Frame_Shift_Ins_p.W567fs|PPFIA2_ENST00000549325.1_Frame_Shift_Ins_p.W702fs|PPFIA2_ENST00000552948.1_Frame_Shift_Ins_p.W720fs|PPFIA2_ENST00000548586.1_Frame_Shift_Ins_p.W720fs|PPFIA2_ENST00000545296.2_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	646										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GAGTGTCCACTGGGGGGAGATG	0.550													7	436	---	---	---	---					
CEP290	80184	broad.mit.edu	37	12	88524078	88524079	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:88524078_88524079insT	ENST00000552810.1	-	9	978_979	c.635_636insA	c.(634-636)atafs	p.I212fs	CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I212fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	212					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TAAGCTCATAGTTTTTTTTAGA	0.317													8	548	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													15	346	---	---	---	---					
BTBD11	121551	broad.mit.edu	37	12	107937777	107937778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:107937777_107937778insC	ENST00000280758.5	+	3	1879_1880	c.1351_1352insC	c.(1351-1353)cccfs	p.P451fs	BTBD11_ENST00000420571.2_Frame_Shift_Ins_p.P451fs|BTBD11_ENST00000490090.2_Frame_Shift_Ins_p.P451fs	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	451						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGGCAATGGCACCCCCCTGCAC	0.579													8	154	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1657-1662)atccccfs	p.IP553fs	EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs			Q96L91	EP400_HUMAN	E1A binding protein p400	553					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGGAATGCCCCCCACGCC	0.589													7	418	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													17	313	---	---	---	---					
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:21546603_21546604insG	ENST00000298694.4	+	10	2329_2330	c.2202_2203insG	c.(2200-2205)gaggggfs	p.EG734fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	734					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCAT	0.629													7	78	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)ccagaafs	p.E1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480													15	678	---	---	---	---					
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)cggfs	p.R529fs	SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCACTCCCTGGGGGGGTGTT	0.530													11	194	---	---	---	---					
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)caafs	p.Q25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.480													8	443	---	---	---	---					
OR4E2	26686	broad.mit.edu	37	14	22133745	22133746	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:22133745_22133746insG	ENST00000408935.1	+	1	449_450	c.449_450insG	c.(448-450)tggfs	p.W150fs		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GCTCTCTGGTTGGGGGGTACTG	0.480													8	604	---	---	---	---					
TINF2	26277	broad.mit.edu	37	14	24709675	24709676	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:24709675_24709676insC	ENST00000399423.4	-	6	1340_1341	c.1010_1011insG	c.(1009-1011)gagfs	p.E337fs	TINF2_ENST00000538777.1_Frame_Shift_Ins_p.E123fs|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000540705.1_Frame_Shift_Ins_p.E302fs|TINF2_ENST00000267415.7_Frame_Shift_Ins_p.E337fs	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	337					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TCAGAGCCCTTCCCCCCAGGGT	0.535									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				8	235	---	---	---	---					
CTSG	1511	broad.mit.edu	37	14	25042847	25042848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:25042847_25042848insG	ENST00000216336.2	-	5	799_800	c.763_764insC	c.(763-765)gtgfs	p.V255fs		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	255					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGTCAGTCACAGGGGGGTCTCC	0.490													8	1852	---	---	---	---					
SYNE2	23224	broad.mit.edu	37	14	64484334	64484336	+	In_Frame_Del	DEL	TAC	TAC	-	rs143578863	by1000genomes	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:64484334_64484336delTAC	ENST00000358025.3	+	34	5139_5141	c.4909_4911delTAC	c.(4909-4911)del	p.Y1638del	SYNE2_ENST00000554584.1_In_Frame_Del_p.Y1638del|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_In_Frame_Del_p.Y1638del	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1638					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACAGAAGATTACTATGAAAATC	0.335													62	119	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													17	602	---	---	---	---					
UNC13C	440279	broad.mit.edu	37	15	54630575	54630576	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr15:54630575_54630576insC	ENST00000545554.1	+	16	4601_4602	c.4601_4602insC	c.(4600-4602)accfs	p.T1534fs	UNC13C_ENST00000260323.11_Frame_Shift_Ins_p.T1534fs|UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.T1532fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1534					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGCTGCAAAGCCCCCCAAAAG	0.401													9	702	---	---	---	---					
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)gtafs	p.V4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559													9	94	---	---	---	---					
IL9RP3	729486	broad.mit.edu	37	16	81765	81766	+	RNA	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:81765_81766insC	ENST00000568710.1	-	0	434																											GGCAACCCCTGCCCCCCATGTC	0.564													7	467	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													9	624	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515													7	413	---	---	---	---					
HS3ST2	9956	broad.mit.edu	37	16	22926721	22926722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:22926721_22926722insA	ENST00000261374.3	+	2	1376_1377	c.942_943insA	c.(940-945)ttaaaafs	p.LK314fs		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	314						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCCCTTGCTTGAAAAAAACAGA	0.485													8	832	---	---	---	---					
MARVELD3	91862	broad.mit.edu	37	16	71668195	71668196	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:71668195_71668196insG	ENST00000268485.3	+	3	739_740	c.695_696insG	c.(694-696)tggfs	p.W232fs	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000567501.1_Frame_Shift_Ins_p.LG45fs	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	232	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATCACCAGCTTGGGGGGCATTT	0.559													8	114	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tac>ta	p.YP359del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	359					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453													11	340	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8409750	8409751	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:8409750_8409751insG	ENST00000360416.3	-	27	3409_3410	c.3271_3272insC	c.(3271-3273)cgafs	p.R1091fs	MYH10_ENST00000396239.1_Frame_Shift_Ins_p.R1081fs|MYH10_ENST00000269243.4_Frame_Shift_Ins_p.R1060fs|MYH10_ENST00000379980.4_Frame_Shift_Ins_p.R1076fs	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1060					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCCCCGTCGAGTTTTCTTTTG	0.515													23	191	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													30	694	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs35554312		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cctgtcfs	p.V625fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.470													9	216	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29683557	29683558	+	Frame_Shift_Ins	INS	-	-	C	rs66883224		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:29683557_29683558insC	ENST00000358273.4	+	52	8078_8079	c.7695_7696insC	c.(7693-7698)acccccfs	p.TP2565fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.TP2544fs|NF1_ENST00000444181.2_Frame_Shift_Ins_p.TP358fs|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2565					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGATCACAACACCCCCCAAAAT	0.366			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	278	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													13	1169	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000583024.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													10	295	---	---	---	---					
ANKRD12	23253	broad.mit.edu	37	18	9204503	9204504	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr18:9204503_9204504insG	ENST00000262126.3	+	4	505_506	c.265_266insG	c.(265-267)gggfs	p.G89fs	ANKRD12_ENST00000400020.3_Intron|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Intron	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	89						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAGTGAAAATTGGGGGGAGAGA	0.386													8	253	---	---	---	---					
FBN3	84467	broad.mit.edu	37	19	8196624	8196625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:8196624_8196625insC	ENST00000600128.1	-	15	2217_2218	c.1803_1804insG	c.(1801-1806)ggtggcfs	p.G602fs	FBN3_ENST00000601739.1_Frame_Shift_Ins_p.G602fs|FBN3_ENST00000270509.2_Frame_Shift_Ins_p.G602fs			Q75N90	FBN3_HUMAN	fibrillin 3	602	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTACCGCCAGCCCCCCCAGGC	0.678													7	27	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9072450	9072451	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:9072450_9072451insG	ENST00000397910.4	-	3	15198_15199	c.14995_14996insC	c.(14995-14997)ggcfs	p.G4999fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5001	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATCCCTGCCTGGGGGGTTGTA	0.465													8	397	---	---	---	---					
NOTCH3	4854	broad.mit.edu	37	19	15276860	15276861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:15276860_15276861insC	ENST00000263388.2	-	30	5479_5480	c.5404_5405insG	c.(5404-5406)tctfs	p.S1802fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1802					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGCTCCAGAGCCCCCCCACAG	0.569													9	111	---	---	---	---					
CYP4F12	66002	broad.mit.edu	37	19	15784498	15784499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:15784498_15784499insC	ENST00000550308.1	+	2	539_540	c.159_160insC	c.(157-162)caccccfs	p.HP53fs	CYP4F12_ENST00000324632.9_Frame_Shift_Ins_p.HP53fs	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GTTTCCCACAGCCCCCAAAACG	0.584													8	349	---	---	---	---					
CYP4F2	8529	broad.mit.edu	37	19	15996865	15996866	+	Splice_Site	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:15996865_15996866insG	ENST00000221700.5	-	9	1081		c.e9-2		CYP4F2_ENST00000011989.7_Splice_Site|CYP4F2_ENST00000592328.1_Splice_Site	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCATGGCCTGGGGGGCAGCA	0.629													7	249	---	---	---	---					
CYP4F2	8529	broad.mit.edu	37	19	16006366	16006367	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:16006366_16006367insG	ENST00000221700.5	-	3	387_388	c.292_293insC	c.(292-294)cctfs	p.P98fs	CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	98					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAAACTGAGGAGGGGGGAGATG	0.594													8	371	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)ggttgafs	p.*520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.500													9	288	---	---	---	---					
AXL	558	broad.mit.edu	37	19	41743932	41743933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:41743932_41743933insC	ENST00000301178.4	+	7	1057_1058	c.867_868insC	c.(865-870)gtccccfs	p.VP289fs	AXL_ENST00000359092.3_Frame_Shift_Ins_p.VP289fs|AXL_ENST00000593513.1_Frame_Shift_Ins_p.VP21fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	289	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AAGCATCCGTGCCCCCCCATCA	0.649													8	161	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													9	173	---	---	---	---					
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(850-855)tgggggfs	p.WG284fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	284					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441													7	381	---	---	---	---					
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)ggcccafs	p.GP572fs	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	572					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436													8	210	---	---	---	---					
KIF16B	55614	broad.mit.edu	37	20	16407830	16407831	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:16407830_16407831insC	ENST00000354981.2	-	15	1687_1688	c.1530_1531insG	c.(1528-1533)ggcagtfs	p.S511fs	KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.S511fs|KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.S511fs|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	511	FHA.				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|Golgi to endosome transport|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			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						AGAGTCACTGTCCCCCCGATAT	0.431													11	893	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													33	475	---	---	---	---					
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:30737490_30737491insC	ENST00000217315.5	+	10	1297_1298	c.957_958insC	c.(955-960)agccccfs	p.SP319fs	TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	336						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604													9	74	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1353)gggfs	p.G451fs	DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559													8	113	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													10	143	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													12	229	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													22	498	---	---	---	---					
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)ccafs	p.P552fs	ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673													8	58	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525													12	264	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr22:18022285_18022286insC	ENST00000262608.8	+	15	2390_2391	c.2390_2391insC	c.(2389-2391)gccfs	p.A797fs	CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609													8	183	---	---	---	---					
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	RNA	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr22:21399220_21399221insC	ENST00000439119.1	-	0	51					NR_002829.1																						TCTGCAGGGCGCCCCCCCACCA	0.599													7	192	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													10	263	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)cccfs	p.P1234fs	TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.450													12	506	---	---	---	---					
PARVG	64098	broad.mit.edu	37	22	44586474	44586474	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr22:44586474delG	ENST00000422871.1	+	7	856	c.432delG	c.(430-432)gtfs	p.V144fs	PARVG_ENST00000415224.1_Frame_Shift_Del_p.V144fs|PARVG_ENST00000444313.2_Frame_Shift_Del_p.V144fs	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	144	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				ACCTCCTTGTGGCCCTGGCCA	0.602													38	66	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569													18	429	---	---	---	---					
CA5B	11238	broad.mit.edu	37	X	15790675	15790676	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:15790675_15790676insG	ENST00000318636.3	+	4	533_534	c.397_398insG	c.(397-399)gggfs	p.G133fs	CA5B_ENST00000454127.2_Frame_Shift_Ins_p.G133fs	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	133					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CCATTTTCACTGGGGGGCCATC	0.495													10	707	---	---	---	---					
GPR64	10149	broad.mit.edu	37	X	19009002	19009003	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:19009002_19009003insT	ENST00000354791.3	-	28	3226_3227	c.2985_2986insA	c.(2983-2988)ttacttfs	p.L996fs	GPR64_ENST00000379878.3_Frame_Shift_Ins_p.L996fs|GPR64_ENST00000379869.3_Frame_Shift_Ins_p.L1012fs|GPR64_ENST00000357991.3_Frame_Shift_Ins_p.L1009fs|GPR64_ENST00000379876.1_Frame_Shift_Ins_p.L988fs|GPR64_ENST00000360279.4_Frame_Shift_Ins_p.L990fs|GPR64_ENST00000340581.3_Frame_Shift_Ins_p.L893fs|GPR64_ENST00000356606.4_Frame_Shift_Ins_p.L998fs|GPR64_ENST00000379873.2_Frame_Shift_Ins_p.L961fs|GPR64_ENST00000357544.3_Frame_Shift_Ins_p.L982fs			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	1012					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TCAATAAAGTGTAAGCTTCCCC	0.396													7	363	---	---	---	---					
CHDC2	286464	broad.mit.edu	37	X	36122660	36122661	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:36122660_36122661insC	ENST00000378660.1	+	8	1085_1086	c.897_898insC	c.(895-900)atccccfs	p.IP299fs	CHDC2_ENST00000313548.4_Frame_Shift_Ins_p.IP299fs					calponin homology domain containing 2																		GCAATAATATGCCCCCCATATG	0.351													7	697	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:40982956_40982957insC	ENST00000324545.7	+	2	708_709	c.75_76insC	c.(73-78)caccccfs	p.HP25fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	25				Q -> L (in Ref. 1; CAA66942).	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.540													8	271	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47041662	47041663	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:47041662_47041663insG	ENST00000377604.3	+	17	2629_2630	c.1887_1888insG	c.(1885-1890)acgggcfs	p.TG629fs	RBM10_ENST00000329236.7_Frame_Shift_Ins_p.TG551fs|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Frame_Shift_Ins_p.TG552fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	629					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ATAAGGAGACAGGGGCACCCTC	0.574													7	24	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													15	833	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													15	1655	---	---	---	---					
HSD17B10	3028	broad.mit.edu	37	X	53458819	53458820	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:53458819_53458820insC	ENST00000168216.6	-	5	548_549	c.521_522insG	c.(520-522)gatfs	p.D174fs	HSD17B10_ENST00000495986.1_5'UTR|HSD17B10_ENST00000375298.4_Intron|HSD17B10_ENST00000375304.5_Frame_Shift_Ins_p.D174fs	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	174					branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8					NADH(DB00157)	TGCCCACTATTCCCCCCTTGGA	0.525													7	493	---	---	---	---					
MAGED2	10916	broad.mit.edu	37	X	54841728	54841728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:54841728delG	ENST00000375068.1	+	12	1667	c.1434delG	c.(1432-1434)gcfs	p.A478fs	MAGED2_ENST00000343474.6_Frame_Shift_Del_p.A460fs|MAGED2_ENST00000375053.2_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375062.4_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000375058.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000396224.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375060.1_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000347546.3_Frame_Shift_Del_p.A422fs|MAGED2_ENST00000218439.4_Frame_Shift_Del_p.A478fs			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	478	MAGE.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ACCGAGAGGCGATGGAAGCGG	0.512													76	191	---	---	---	---					
HEPH	9843	broad.mit.edu	37	X	65486286	65486287	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:65486286_65486287insC	ENST00000519389.1	+	21	3590_3591	c.3411_3412insC	c.(3409-3414)gtccccfs	p.VP1137fs	HEPH_ENST00000441993.2_Splice_Site_p.VP1085_splice|HEPH_ENST00000374727.3_Frame_Shift_Ins_p.VP1086fs|HEPH_ENST00000336279.5_Frame_Shift_Ins_p.VP816fs|HEPH_ENST00000419594.1_Frame_Shift_Ins_p.VP894fs|HEPH_ENST00000343002.2_Frame_Shift_Ins_p.VP1083fs			Q9BQS7	HEPH_HUMAN	hephaestin	1083					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTTCAGCAGTGCCCCCCAGAGA	0.436													7	475	---	---	---	---					
IL2RG	3561	broad.mit.edu	37	X	70330448	70330449	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:70330448_70330449insT	ENST00000374202.2	-	3	450_451	c.359_360insA	c.(358-360)agafs	p.R120fs	IL2RG_ENST00000456850.2_Intron	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	120					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGTGGATCTCCTTTTTTTGCAA	0.450									Severe Combined Immunodeficiency, X-linked				7	550	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:70360680_70360682delGCA	ENST00000333646.6	+	42	6448_6450	c.6249_6251delGCA	c.(6247-6252)cgg>cg	p.RQ2083del	MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2080	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						8	94	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475													10	1109	---	---	---	---					
GPRASP1	9737	broad.mit.edu	37	X	101912087	101912088	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:101912087_101912088insG	ENST00000537097.1	+	6	4059_4060	c.3246_3247insG	c.(3244-3249)ttggggfs	p.LG1082fs	GPRASP1_ENST00000444152.1_Frame_Shift_Ins_p.LG1082fs|GPRASP1_ENST00000415986.1_Frame_Shift_Ins_p.LG1082fs|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Frame_Shift_Ins_p.LG1082fs	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1082	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTGAAATGTTTGGGGGCAAACC	0.485													9	1228	---	---	---	---					
FRMPD3	84443	broad.mit.edu	37	X	106845402	106845403	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:106845402_106845403insG	ENST00000276185.4	+	16	4232_4233	c.4232_4233insG	c.(4231-4233)tggfs	p.W1411fs				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1411						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ACGTGTGCCTCGGGGGGCGAGT	0.609													10	351	---	---	---	---					
COL4A6	1288	broad.mit.edu	37	X	107462974	107462975	+	Splice_Site	INS	-	-	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:107462974_107462975insA	ENST00000334504.7	-	5	513		c.e5-2		COL4A6_ENST00000545689.1_Splice_Site|COL4A6_ENST00000372216.4_Splice_Site|COL4A6_ENST00000394872.2_Intron|COL4A6_ENST00000538570.1_Splice_Site	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6						cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CATGGGACCCTAAAAAAAGGAG	0.421									Alport syndrome with Diffuse Leiomyomatosis				7	677	---	---	---	---					
COL4A5	1287	broad.mit.edu	37	X	107834821	107834822	+	Frame_Shift_Ins	INS	-	-	C	rs104886321		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:107834821_107834822insC	ENST00000328300.6	+	21	1614_1615	c.1370_1371insC	c.(1369-1371)gccfs	p.A457fs	COL4A5_ENST00000361603.2_Frame_Shift_Ins_p.A457fs	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	457	Triple-helical region.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTCCAGGCCCCCCAGGAT	0.406									Alport syndrome with Diffuse Leiomyomatosis				9	1546	---	---	---	---					
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)cccfs	p.P310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564													9	483	---	---	---	---					
THOC2	57187	broad.mit.edu	37	X	122757062	122757063	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:122757062_122757063insG	ENST00000245838.8	-	29	3606_3607	c.3575_3576insC	c.(3574-3576)cccfs	p.P1192fs	THOC2_ENST00000355725.4_Frame_Shift_Ins_p.P1192fs|THOC2_ENST00000491737.1_Frame_Shift_Ins_p.P1077fs	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1192					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CATTCCTCGGAGGGGGGTCTTT	0.441													11	808	---	---	---	---					
BCORL1	63035	broad.mit.edu	37	X	129146962	129146963	+	Frame_Shift_Ins	INS	-	-	G	rs141901231	byFrequency	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:129146962_129146963insG	ENST00000540052.1	+	3	258_259	c.214_215insG	c.(214-216)gggfs	p.G72fs	BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.G72fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	72					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCAATGCCCGGGGGGCAGAC	0.569													12	637	---	---	---	---					
PLAC1	10761	broad.mit.edu	37	X	133700524	133700525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:133700524_133700525insG	ENST00000359237.4	-	3	473_474	c.188_189insC	c.(187-189)caafs	p.Q63fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	63					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GAACATGGTTTGGGGGGCAACC	0.510													7	431	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)ggtfs	p.G308fs	MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535													22	584	---	---	---	---					
SLITRK2	84631	broad.mit.edu	37	X	144904117	144904118	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:144904117_144904118insC	ENST00000370490.1	+	1	4429_4430	c.174_175insC	c.(172-177)caccccfs	p.HP58fs	SLITRK2_ENST00000434188.2_Frame_Shift_Ins_p.HP58fs|SLITRK2_ENST00000413937.2_Frame_Shift_Ins_p.HP58fs|SLITRK2_ENST00000428560.2_Frame_Shift_Ins_p.HP58fs|SLITRK2_ENST00000447897.2_Frame_Shift_Ins_p.HP58fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	58						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGCTCCAGCCCCCCCAGTA	0.431													10	84	---	---	---	---					
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													12	854	---	---	---	---					
SPTA1	6708	broad.mit.edu	37	1	158596702	158596702	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr1:158596702delC	ENST00000368148.3	-	41	5940	c.5760delG	c.(5758-5760)tgfs	p.W1920fs	SPTA1_ENST00000368147.3_Frame_Shift_Del_p.W1917fs|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1920					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTGCAACTTCCAAGCAGCTA	0.463													58	143	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195690462	195690463	+	RNA	INS	-	-	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr3:195690462_195690463insG	ENST00000427841.1	-	0	2203					NR_003264.2																						catgcgcaacaggggactgtaa	0.366													2	4	---	---	---	---					
GJA10	84694	broad.mit.edu	37	6	90605805	90605805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:90605805delA	ENST00000369352.1	+	1	1618	c.1618delA	c.(1618-1620)aafs	p.K540fs		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	540					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ACATTCAGTTAAATTCAATTC	0.338													10	41	---	---	---	---					
PRDM1	639	broad.mit.edu	37	6	106553068	106553069	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr6:106553068_106553069insA	ENST00000369096.4	+	5	1267_1268	c.1033_1034insA	c.(1033-1035)aagfs	p.K345fs	PRDM1_ENST00000369091.2_Frame_Shift_Ins_p.K309fs|PRDM1_ENST00000369089.3_Frame_Shift_Ins_p.K211fs	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	345					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CAGCCCCGACCAAAGCCTCAAG	0.619			"""D, N, Mis, F, S"""		DLBCL								60	214	---	---	---	---					
JHDM1D-AS1	100134229	broad.mit.edu	37	7	139878082	139878089	+	RNA	DEL	TCCCTCCC	TCCCTCCC	-	rs57191915		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr7:139878082_139878089delTCCCTCCC	ENST00000566699.1	+	0	1022_1029					NR_024451.1																						cttccttccttccctccctccCTTTCCT	0.471													4	5	---	---	---	---					
CALML5	51806	broad.mit.edu	37	10	5541067	5541068	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr10:5541067_5541068insG	ENST00000380332.3	-	1	465_466	c.334_335insC	c.(334-336)gccfs	p.A112fs		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	112	EF-hand 3.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						CGGCAGCGGCTGCCCCAGCCCC	0.713													7	17	---	---	---	---					
AP000797.3	0	broad.mit.edu	37	11	115597866	115597866	+	RNA	DEL	A	A	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr11:115597866delA	ENST00000539305.1	+	0	163																											ggaaggaaggaaggaaaggaa	0.527													2	4	---	---	---	---					
SYNE2	23224	broad.mit.edu	37	14	64484334	64484336	+	In_Frame_Del	DEL	TAC	TAC	-	rs143578863	by1000genomes	TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr14:64484334_64484336delTAC	ENST00000358025.3	+	34	5139_5141	c.4909_4911delTAC	c.(4909-4911)del	p.Y1638del	SYNE2_ENST00000344113.4_In_Frame_Del_p.Y1638del|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_In_Frame_Del_p.Y1638del	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1638					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACAGAAGATTACTATGAAAATC	0.335													58	196	---	---	---	---					
LINC01399	104310353	broad.mit.edu	37	22	35589672	35589673	+	RNA	INS	-	-	GAAG	rs140037973	by1000genomes	TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr22:35589672_35589673insGAAG	ENST00000423311.1	-	0	222																											agggaagggaagaaggaaggaa	0.535													3	5	---	---	---	---					
PARVG	64098	broad.mit.edu	37	22	44586474	44586474	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chr22:44586474delG	ENST00000422871.1	+	7	856	c.432delG	c.(430-432)gtfs	p.V144fs	PARVG_ENST00000415224.1_Frame_Shift_Del_p.V144fs|PARVG_ENST00000444313.2_Frame_Shift_Del_p.V144fs	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	144	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				ACCTCCTTGTGGCCCTGGCCA	0.602													52	269	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47041662	47041663	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:47041662_47041663insG	ENST00000377604.3	+	17	2629_2630	c.1887_1888insG	c.(1885-1890)acgggcfs	p.TG629fs	RBM10_ENST00000329236.7_Frame_Shift_Ins_p.TG551fs|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Frame_Shift_Ins_p.TG552fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	629					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ATAAGGAGACAGGGGCACCCTC	0.574													28	72	---	---	---	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591													9	359	---	---	---	---					
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)ggg>gg	p.GK371del	GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	371					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557													8	272	---	---	---	---					
MAGED2	10916	broad.mit.edu	37	X	54841728	54841728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:54841728delG	ENST00000375068.1	+	12	1667	c.1434delG	c.(1432-1434)gcfs	p.A478fs	MAGED2_ENST00000375060.1_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000343474.6_Frame_Shift_Del_p.A460fs|MAGED2_ENST00000396224.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375062.4_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000347546.3_Frame_Shift_Del_p.A422fs|MAGED2_ENST00000218439.4_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375058.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375053.2_Frame_Shift_Del_p.A478fs			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	478	MAGE.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ACCGAGAGGCGATGGAAGCGG	0.512													39	152	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	7573999f-0520-41aa-9ef7-6094c11e220c	g.chrX:70360680_70360682delGCA	ENST00000333646.6	+	42	6448_6450	c.6249_6251delGCA	c.(6247-6252)cgg>cg	p.RQ2083del	MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2080	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	94	---	---	---	---					
PRAMEF6	440561	broad.mit.edu	37	1	13109019	13109020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:13109019_13109020insG	ENST00000376182.1	-	4	1348_1349	c.1249_1250insC	c.(1249-1251)ggafs	p.G417fs	PRAMEF6_ENST00000414205.2_Frame_Shift_Ins_p.G417fs|PRAMEF6_ENST00000376192.5_Intron			Q5VXH4	PRAM6_HUMAN	PRAME family member 6	417										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACTCTCCCGGGGGGCAGGA	0.520													8	530	---	---	---	---					
NBPF1	55672	broad.mit.edu	37	1	16901653	16901654	+	Splice_Site	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:16901653_16901654insG	ENST00000430580.2	-	20	3077_3078	c.2192_splice	c.e20+1	p.PG730_splice	NBPF1_ENST00000432949.1_Splice_Site_p.PG188_splice|NBPF1_ENST00000287968.8_Splice_Site_p.PG95_splice	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	730	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGTGTTACCTGGGGGCAGACG	0.431													14	4017	---	---	---	---					
NBPF3	84224	broad.mit.edu	37	1	21804665	21804666	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:21804665_21804666insC	ENST00000318220.6	+	12	1901_1902	c.853_854insC	c.(853-855)cccfs	p.P285fs	NBPF3_ENST00000318249.5_Frame_Shift_Ins_p.P341fs|NBPF3_ENST00000454000.2_Frame_Shift_Ins_p.P271fs|NBPF3_ENST00000342104.5_Frame_Shift_Ins_p.P366fs			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	341	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGAGGAGGAAGCCCCCCAGGAG	0.500													8	743	---	---	---	---					
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)gggfs	p.G310fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	310	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.500													8	471	---	---	---	---					
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:33233494_33233495insC	ENST00000401073.2	+	2	412_413	c.342_343insC	c.(340-345)cgccccfs	p.RP114fs	KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	55			S -> P (in dbSNP:rs3737994).							breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614													10	164	---	---	---	---					
C1orf94	84970	broad.mit.edu	37	1	34666398	34666398	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:34666398delA	ENST00000488417.1	+	3	1155	c.1035delA	c.(1033-1035)ccfs	p.P345fs	C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	155							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCAAGGAGCCAAAAAAGGGTC	0.572													10	665	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42049248	42049249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:42049248_42049249insG	ENST00000372584.1	-	3	2234_2235	c.1220_1221insC	c.(1219-1221)caafs	p.Q407fs	HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.Q407fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.Q407fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.Q407fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	407	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGTTGGTGTTTGGGGGGCTGAC	0.594													11	355	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1795-1800)ccggggfs	p.PG599fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	599					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			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)					TTGTGGCCCCTGGGGGGGCCTT	0.663													9	81	---	---	---	---					
S100A8	6279	broad.mit.edu	37	1	153362604	153362605	+	Frame_Shift_Ins	INS	-	-	T	rs150732741		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:153362604_153362605insT	ENST00000368733.3	-	3	425_426	c.256_257insA	c.(256-258)ccafs	p.P86fs	S100A8_ENST00000368732.1_Frame_Shift_Ins_p.P86fs	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	86				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).	chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTTCATGGCTTTTTTTGTGG	0.480													7	317	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				9	236	---	---	---	---					
SPTA1	6708	broad.mit.edu	37	1	158596702	158596702	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:158596702delC	ENST00000368148.3	-	41	5940	c.5760delG	c.(5758-5760)tgfs	p.W1920fs	SPTA1_ENST00000368147.3_Frame_Shift_Del_p.W1917fs|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1920					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTGCAACTTCCAAGCAGCTA	0.463													205	424	---	---	---	---					
IGSF8	93185	broad.mit.edu	37	1	160063924	160063925	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:160063924_160063925insG	ENST00000368086.1	-	3	695_696	c.479_480insC	c.(478-480)cggfs	p.R160fs	IGSF8_ENST00000314485.7_Frame_Shift_Ins_p.R160fs|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	160					cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCGGGGCCCTGGGGGGGCAGC	0.653													7	37	---	---	---	---					
ATP6V1B1	525	broad.mit.edu	37	2	71191572	71191573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:71191572_71191573insC	ENST00000234396.4	+	12	1221_1222	c.1148_1149insC	c.(1147-1149)tccfs	p.S383fs	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.S366fs	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATCA	0.545											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	71	---	---	---	---					
DYSF	8291	broad.mit.edu	37	2	71839796	71839797	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr2:71839796_71839797insC	ENST00000258104.3	+	39	4470_4471	c.4193_4194insC	c.(4192-4194)tccfs	p.S1398fs	DYSF_ENST00000409744.1_Frame_Shift_Ins_p.S1385fs|DYSF_ENST00000429174.2_Frame_Shift_Ins_p.S1398fs|DYSF_ENST00000413539.2_Frame_Shift_Ins_p.S1429fs|DYSF_ENST00000410020.3_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000410041.1_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000409762.1_Frame_Shift_Ins_p.S1415fs|DYSF_ENST00000409651.1_Frame_Shift_Ins_p.S1430fs|DYSF_ENST00000409582.3_Frame_Shift_Ins_p.S1415fs|DYSF_ENST00000409366.1_Frame_Shift_Ins_p.S1399fs|DYSF_ENST00000394120.2_Frame_Shift_Ins_p.S1399fs|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1398						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGCTCTACTGCCCCCCCATCA	0.619													7	110	---	---	---	---					
IFT122	55764	broad.mit.edu	37	3	129183576	129183577	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr3:129183576_129183577insG	ENST00000296266.3	+	8	860_861	c.668_669insG	c.(667-669)cggfs	p.R223fs	IFT122_ENST00000347300.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000348417.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000507564.1_Frame_Shift_Ins_p.R223fs|IFT122_ENST00000431818.2_Frame_Shift_Ins_p.R22fs|IFT122_ENST00000349441.2_Frame_Shift_Ins_p.R120fs|IFT122_ENST00000504021.1_Frame_Shift_Ins_p.R125fs|IFT122_ENST00000440957.2_Frame_Shift_Ins_p.R22fs	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	172					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.P223P(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATCGAGCGGCCGGGGGGCTCCC	0.505													7	271	---	---	---	---					
CNGA1	1259	broad.mit.edu	37	4	47939171	47939172	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr4:47939171_47939172insT	ENST00000402813.3	-	10	1688_1689	c.1546_1547insA	c.(1546-1548)agtfs	p.S516fs	CNGA1_ENST00000544810.1_Frame_Shift_Ins_p.S447fs|CNGA1_ENST00000420489.2_Frame_Shift_Ins_p.S447fs|CNGA1_ENST00000358519.4_Frame_Shift_Ins_p.S447fs|CNGA1_ENST00000514170.1_Frame_Shift_Ins_p.S447fs			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	447					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTCATCAACTGTTTTTTTGTTG	0.327													7	802	---	---	---	---					
EPB41L4A	64097	broad.mit.edu	37	5	111615998	111615999	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:111615998_111615999insT	ENST00000261486.5	-	3	502_503	c.226_227insA	c.(226-228)cctfs	p.P76fs		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	76	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTCAGCAAGGGTTTTTGCAGGA	0.356													8	1344	---	---	---	---					
FNDC9	408263	broad.mit.edu	37	5	156769909	156769910	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:156769909_156769910insC	ENST00000312349.4	-	2	822_823	c.635_636insG	c.(634-636)gggfs	p.G212fs	CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000318218.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	212						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTGGGTCACCACCCCCCCTCTG	0.584											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	198	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32522756	32522756	+	RNA	DEL	A	A	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:32522756delA	ENST00000411500.1	-	0	458					NR_001298.1																						GGACTAGGAGAAAAAAAGGTA	0.517													10	54	---	---	---	---					
SLC17A5	26503	broad.mit.edu	37	6	74351590	74351590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:74351590delA	ENST00000355773.5	-	3	617	c.349delT	c.(349-351)atfs	p.Y117fs	SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.Y117fs	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	117					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGTAGCCATAAAAAAAGGAA	0.423													7	314	---	---	---	---					
GJA10	84694	broad.mit.edu	37	6	90605805	90605805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:90605805delA	ENST00000369352.1	+	1	1618	c.1618delA	c.(1618-1620)aafs	p.K540fs		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	540					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ACATTCAGTTAAATTCAATTC	0.338													23	66	---	---	---	---					
PRDM1	639	broad.mit.edu	37	6	106553068	106553069	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:106553068_106553069insA	ENST00000369096.4	+	5	1267_1268	c.1033_1034insA	c.(1033-1035)aagfs	p.K345fs	PRDM1_ENST00000369089.3_Frame_Shift_Ins_p.K211fs|PRDM1_ENST00000369091.2_Frame_Shift_Ins_p.K309fs	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	345					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CAGCCCCGACCAAAGCCTCAAG	0.619			"""D, N, Mis, F, S"""		DLBCL								26	63	---	---	---	---					
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)cfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.530													8	946	---	---	---	---					
ANLN	54443	broad.mit.edu	37	7	36438715	36438716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:36438715_36438716insA	ENST00000265748.2	+	3	421_422	c.200_201insA	c.(199-201)taafs	p.*67fs	ANLN_ENST00000396068.2_Frame_Shift_Ins_p.*67fs	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	67	Interaction with CD2AP.|Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CCATCGCCATCAAAAAAACGCT	0.347													7	219	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100285169	100285170	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:100285169_100285170insG	ENST00000275732.5	-	4	1540_1541	c.331_332insC	c.(331-333)ggcfs	p.G111fs	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	111								p.L111fs*234(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGTGCCAGCCAGGGGGGGGCCA	0.673													3	4	---	---	---	---					
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1678-1683)gcccccfs	p.AP560fs	DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	560					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	356	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480091	73480092	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr8:73480091_73480092insG	ENST00000523207.1	+	2	710_711	c.122_123insG	c.(121-123)gggfs	p.G41fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	41					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGATCAATGTGGGGGGCCTCA	0.564													7	397	---	---	---	---					
CTD-3074O7.11	0	broad.mit.edu	37	11	66299155	66299156	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:66299155_66299156insC	ENST00000419755.3	+	16	1826_1827	c.1748_1749insC	c.(1747-1749)tccfs	p.S583fs	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Frame_Shift_Ins_p.S417fs|BBS1_ENST00000318312.7_Frame_Shift_Ins_p.S546fs|BBS1_ENST00000455748.2_Frame_Shift_Ins_p.S449fs																							GGGCTCAACTACCCCCTGGAGA	0.540													8	903	---	---	---	---					
INPPL1	3636	broad.mit.edu	37	11	71948208	71948209	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:71948208_71948209insC	ENST00000298229.2	+	26	3124_3125	c.2920_2921insC	c.(2920-2922)cccfs	p.P974fs	INPPL1_ENST00000541756.1_Frame_Shift_Ins_p.P732fs|INPPL1_ENST00000538751.1_Frame_Shift_Ins_p.P732fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	974	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	p.P977fs*7(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGGGTGGCGGCCCCCCCACCC	0.634													8	121	---	---	---	---					
KIAA1377	57562	broad.mit.edu	37	11	101786091	101786092	+	Frame_Shift_Ins	INS	-	-	C	rs146972831		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:101786091_101786092insC	ENST00000263468.8	+	1	346_347	c.76_77insC	c.(76-78)cccfs	p.P26fs	ANGPTL5_ENST00000334289.3_Intron	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	26							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCTCGACAGAGCCCCCCTCGGC	0.663													7	183	---	---	---	---					
TTC12	54970	broad.mit.edu	37	11	113210159	113210160	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:113210159_113210160insG	ENST00000393020.1	+	10	1194_1195	c.789_790insG	c.(787-792)gcggggfs	p.AG263fs	TTC12_ENST00000529221.1_Frame_Shift_Ins_p.AG263fs|TTC12_ENST00000314756.3_Frame_Shift_Ins_p.AG263fs|TTC12_ENST00000483239.2_Frame_Shift_Ins_p.AG269fs			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	263							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGTTCTATGCTGGGGGGATTGA	0.500													9	625	---	---	---	---					
LINC00477	144360	broad.mit.edu	37	12	24736561	24736562	+	RNA	INS	-	-	A			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:24736561_24736562insA	ENST00000483544.1	-	0	540_541					NR_029451.2																						ACTTAAGAAGGAAAAAAAGGGG	0.554													9	114	---	---	---	---					
RP11-25I15.2	0	broad.mit.edu	37	12	43072603	43072603	+	RNA	DEL	T	T	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:43072603delT	ENST00000548764.1	+	0	465																											AGAACTCTGCttttttttttt	0.413													6	8	---	---	---	---					
ESYT1	23344	broad.mit.edu	37	12	56531341	56531342	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:56531341_56531342insG	ENST00000394048.5	+	18	2261_2262	c.1997_1998insG	c.(1996-1998)tggfs	p.W666fs	ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.W676fs|ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.W676fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	666	C2 3.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GACCGTTTCTTGGGGGGACTGG	0.550													8	376	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1657-1662)atccccfs	p.IP553fs	EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs			Q96L91	EP400_HUMAN	E1A binding protein p400	553					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGGAATGCCCCCCACGCC	0.589													7	418	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cctgttfs	p.V698fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	698					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)					7	149	---	---	---	---					
SYNE2	23224	broad.mit.edu	37	14	64484334	64484336	+	In_Frame_Del	DEL	TAC	TAC	-	rs143578863	by1000genomes	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr14:64484334_64484336delTAC	ENST00000358025.3	+	34	5139_5141	c.4909_4911delTAC	c.(4909-4911)del	p.Y1638del	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_In_Frame_Del_p.Y1638del|SYNE2_ENST00000554584.1_In_Frame_Del_p.Y1638del	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1638					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACAGAAGATTACTATGAAAATC	0.335													62	119	---	---	---	---					
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)gtafs	p.V4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559													9	94	---	---	---	---					
NFE2L1	4779	broad.mit.edu	37	17	46135787	46135788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:46135787_46135788insG	ENST00000362042.3	+	6	1719_1720	c.1103_1104insG	c.(1102-1104)cggfs	p.R368fs	NFE2L1_ENST00000583378.1_Frame_Shift_Ins_p.R169fs|NFE2L1_ENST00000536222.1_Frame_Shift_Ins_p.R212fs|NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.R338fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.R338fs|NFE2L1_ENST00000582155.1_Frame_Shift_Ins_p.R180fs|NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.R357fs	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	368					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGCGTCCCTGGGGGGCTGCA	0.604													9	422	---	---	---	---					
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083		TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)ccagtcfs	p.V891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AACGAGGACTTGGGGGGGATGG	0.574													8	151	---	---	---	---					
FBN3	84467	broad.mit.edu	37	19	8196624	8196625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:8196624_8196625insC	ENST00000600128.1	-	15	2217_2218	c.1803_1804insG	c.(1801-1806)ggtggcfs	p.G602fs	FBN3_ENST00000601739.1_Frame_Shift_Ins_p.G602fs|FBN3_ENST00000270509.2_Frame_Shift_Ins_p.G602fs			Q75N90	FBN3_HUMAN	fibrillin 3	602	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTACCGCCAGCCCCCCCAGGC	0.678													7	27	---	---	---	---					
DMPK	1760	broad.mit.edu	37	19	46283129	46283130	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr19:46283129_46283130insG	ENST00000600757.1	-	1	875_876	c.188_189insC	c.(187-189)cgcfs	p.R63fs	DMPK_ENST00000458663.2_Splice_Site|DMPK_ENST00000447742.2_Splice_Site|DMPK_ENST00000354227.5_Splice_Site|DMPK_ENST00000343373.4_Frame_Shift_Ins_p.R63fs|AC011530.4_ENST00000593999.1_Splice_Site|DMPK_ENST00000291270.4_Splice_Site			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	63					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TGGGCTCCGCTGGGGGGGTGGT	0.619													4	5	---	---	---	---					
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)ccafs	p.P552fs	ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673													8	58	---	---	---	---					
PARVG	64098	broad.mit.edu	37	22	44586474	44586474	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr22:44586474delG	ENST00000422871.1	+	7	856	c.432delG	c.(430-432)gtfs	p.V144fs	PARVG_ENST00000415224.1_Frame_Shift_Del_p.V144fs|PARVG_ENST00000444313.2_Frame_Shift_Del_p.V144fs	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	144	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				ACCTCCTTGTGGCCCTGGCCA	0.602													38	66	---	---	---	---					
GPR64	10149	broad.mit.edu	37	X	19009002	19009003	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:19009002_19009003insT	ENST00000354791.3	-	28	3226_3227	c.2985_2986insA	c.(2983-2988)ttacttfs	p.L996fs	GPR64_ENST00000379876.1_Frame_Shift_Ins_p.L988fs|GPR64_ENST00000379869.3_Frame_Shift_Ins_p.L1012fs|GPR64_ENST00000379873.2_Frame_Shift_Ins_p.L961fs|GPR64_ENST00000360279.4_Frame_Shift_Ins_p.L990fs|GPR64_ENST00000340581.3_Frame_Shift_Ins_p.L893fs|GPR64_ENST00000379878.3_Frame_Shift_Ins_p.L996fs|GPR64_ENST00000357991.3_Frame_Shift_Ins_p.L1009fs|GPR64_ENST00000356606.4_Frame_Shift_Ins_p.L998fs|GPR64_ENST00000357544.3_Frame_Shift_Ins_p.L982fs			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	1012					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TCAATAAAGTGTAAGCTTCCCC	0.396													7	363	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47041662	47041663	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:47041662_47041663insG	ENST00000377604.3	+	17	2629_2630	c.1887_1888insG	c.(1885-1890)acgggcfs	p.TG629fs	RBM10_ENST00000345781.6_Frame_Shift_Ins_p.TG552fs|RBM10_ENST00000329236.7_Frame_Shift_Ins_p.TG551fs|RBM10_ENST00000468791.1_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	629					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ATAAGGAGACAGGGGCACCCTC	0.574													7	24	---	---	---	---					
HSD17B10	3028	broad.mit.edu	37	X	53458819	53458820	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:53458819_53458820insC	ENST00000168216.6	-	5	548_549	c.521_522insG	c.(520-522)gatfs	p.D174fs	HSD17B10_ENST00000375304.5_Frame_Shift_Ins_p.D174fs|HSD17B10_ENST00000495986.1_5'UTR|HSD17B10_ENST00000375298.4_Intron	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	174					branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8					NADH(DB00157)	TGCCCACTATTCCCCCCTTGGA	0.525													7	493	---	---	---	---					
MAGED2	10916	broad.mit.edu	37	X	54841728	54841728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:54841728delG	ENST00000375068.1	+	12	1667	c.1434delG	c.(1432-1434)gcfs	p.A478fs	MAGED2_ENST00000375062.4_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000343474.6_Frame_Shift_Del_p.A460fs|MAGED2_ENST00000396224.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375053.2_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375058.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375060.1_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000218439.4_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000347546.3_Frame_Shift_Del_p.A422fs			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	478	MAGE.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ACCGAGAGGCGATGGAAGCGG	0.512													76	191	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:70360680_70360682delGCA	ENST00000333646.6	+	42	6448_6450	c.6249_6251delGCA	c.(6247-6252)cgg>cg	p.RQ2083del	MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2080	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						8	94	---	---	---	---					
RAB40A	142684	broad.mit.edu	37	X	102755540	102755541	+	Frame_Shift_Ins	INS	-	-	C	rs139170788	byFrequency	TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:102755540_102755541insC	ENST00000372633.1	-	1	2262_2263	c.144_145insG	c.(142-147)ggtcgafs	p.R49fs	RAB40A_ENST00000304236.1_Frame_Shift_Ins_p.R49fs			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	49					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TTGTAGTCGATCCCCCCGAGAT	0.594													8	588	---	---	---	---					
FRMPD3	84443	broad.mit.edu	37	X	106845402	106845403	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:106845402_106845403insG	ENST00000276185.4	+	16	4232_4233	c.4232_4233insG	c.(4231-4233)tggfs	p.W1411fs				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1411						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ACGTGTGCCTCGGGGGGCGAGT	0.609													10	351	---	---	---	---					
PLAC1	10761	broad.mit.edu	37	X	133700524	133700525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01W-0928-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92da1bb5-2e83-4f2f-88dd-afc0cb7d91d1	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:133700524_133700525insG	ENST00000359237.4	-	3	473_474	c.188_189insC	c.(187-189)caafs	p.Q63fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	63					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GAACATGGTTTGGGGGGCAACC	0.510													7	431	---	---	---	---					
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													12	854	---	---	---	---					
ADC	113451	broad.mit.edu	37	1	33583673	33583674	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:33583673_33583674insC	ENST00000294517.6	+	11	1787_1788	c.1200_1201insC	c.(1198-1203)ggcccafs	p.GP400fs	ADC_ENST00000373443.3_Frame_Shift_Ins_p.GP400fs|ADC_ENST00000398167.1_Frame_Shift_Ins_p.GP420fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.GP420fs|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	400					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CCTTTTGGGGGACCCAGGCCTG	0.624													8	252	---	---	---	---					
SPTA1	6708	broad.mit.edu	37	1	158596702	158596702	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr1:158596702delC	ENST00000368148.3	-	41	5940	c.5760delG	c.(5758-5760)tgfs	p.W1920fs	SPTA1_ENST00000368147.3_Frame_Shift_Del_p.W1917fs|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1920					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTGCAACTTCCAAGCAGCTA	0.463													58	143	---	---	---	---					
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr5:149216400_149216402delCAG	ENST00000309241.5	+	8	2414_2416	c.2382_2384delCAG	c.(2380-2385)gac>ga	p.DS794del	PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	794	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.S795N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTTGAAGACAGCAGCAGCAGC	0.601													7	388	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													15	371	---	---	---	---					
GABRR1	2569	broad.mit.edu	37	6	89891719	89891721	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:89891719_89891721delAAG	ENST00000435811.1	-	7	1255_1257	c.801_803delCTT	c.(799-804)ttg>tt	p.FL267del	GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del|GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	284					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGTTTGGAGCAAGAAGAAGAAGA	0.522													8	266	---	---	---	---					
GJA10	84694	broad.mit.edu	37	6	90605805	90605805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:90605805delA	ENST00000369352.1	+	1	1618	c.1618delA	c.(1618-1620)aafs	p.K540fs		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	540					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ACATTCAGTTAAATTCAATTC	0.338													10	41	---	---	---	---					
PRDM1	639	broad.mit.edu	37	6	106553068	106553069	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr6:106553068_106553069insA	ENST00000369096.4	+	5	1267_1268	c.1033_1034insA	c.(1033-1035)aagfs	p.K345fs	PRDM1_ENST00000369091.2_Frame_Shift_Ins_p.K309fs|PRDM1_ENST00000369089.3_Frame_Shift_Ins_p.K211fs	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	345					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CAGCCCCGACCAAAGCCTCAAG	0.619			"""D, N, Mis, F, S"""		DLBCL								60	214	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320	by1000genomes	TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330																											TTATTTGTCAAGgtgtgtgtgt	0.391													10	89	---	---	---	---					
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr9:117406_117407insG	ENST00000382500.2	-	1	1010_1011	c.713_714insC	c.(712-714)cccfs	p.P238fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743													12	108	---	---	---	---					
CALML5	51806	broad.mit.edu	37	10	5541067	5541068	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr10:5541067_5541068insG	ENST00000380332.3	-	1	465_466	c.334_335insC	c.(334-336)gccfs	p.A112fs		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	112	EF-hand 3.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						CGGCAGCGGCTGCCCCAGCCCC	0.713													7	17	---	---	---	---					
RP11-428C19.4	0	broad.mit.edu	37	11	19296085	19296085	+	RNA	DEL	T	T	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:19296085delT	ENST00000527978.1	+	0	339																											aaaaaaaaaGTCCCATATTAG	0.468													3	6	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)del	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													8	178	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gag>g	p.EK849del	SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	849	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													7	528	---	---	---	---					
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tfs	p.C168fs	IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													10	397	---	---	---	---					
SYNE2	23224	broad.mit.edu	37	14	64484334	64484336	+	In_Frame_Del	DEL	TAC	TAC	-	rs143578863	by1000genomes	TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr14:64484334_64484336delTAC	ENST00000358025.3	+	34	5139_5141	c.4909_4911delTAC	c.(4909-4911)del	p.Y1638del	SYNE2_ENST00000554584.1_In_Frame_Del_p.Y1638del|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_In_Frame_Del_p.Y1638del	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1638					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACAGAAGATTACTATGAAAATC	0.335													58	196	---	---	---	---					
ADPGK	83440	broad.mit.edu	37	15	73044826	73044827	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr15:73044826_73044827insT	ENST00000311669.8	-	7	1439_1440	c.1346_1347insA	c.(1345-1347)accfs	p.T449fs	ADPGK_ENST00000456471.2_Frame_Shift_Ins_p.T175fs	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	450	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CTACTACTGGCTTGTTTGGGTT	0.490													7	277	---	---	---	---					
CSPG4	1464	broad.mit.edu	37	15	75981842	75981854	+	Frame_Shift_Del	DEL	CCTCCAGCACCAG	CCTCCAGCACCAG	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr15:75981842_75981854delCCTCCAGCACCAG	ENST00000308508.5	-	3	1644_1656	c.1552_1564delCTGGTGCTGGAGG	c.(1552-1566)tgfs	p.LVLEV518fs		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	518	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTCACCGACACCTCCAGCACCAGCTGGTCGGAG	0.624													19	147	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													21	804	---	---	---	---					
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gag>g	p.EK233del	UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	233	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453													8	704	---	---	---	---					
LCAT	3931	broad.mit.edu	37	16	67973970	67973971	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr16:67973970_67973971insG	ENST00000264005.5	-	6	1188_1189	c.1159_1160insC	c.(1159-1161)gccfs	p.A387fs		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	387					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		AGGCTGTGGCTGGCGGCCCTGC	0.629													7	288	---	---	---	---					
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr17:27620990_27620992delGCT	ENST00000225388.4	-	1	144_146	c.86_88delAGC	c.(85-90)ccg>c	p.QP29del	NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	29	His-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591													7	236	---	---	---	---					
PARVG	64098	broad.mit.edu	37	22	44586474	44586474	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chr22:44586474delG	ENST00000422871.1	+	7	856	c.432delG	c.(430-432)gtfs	p.V144fs	PARVG_ENST00000415224.1_Frame_Shift_Del_p.V144fs|PARVG_ENST00000444313.2_Frame_Shift_Del_p.V144fs	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	144	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				ACCTCCTTGTGGCCCTGGCCA	0.602													52	269	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47041662	47041663	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:47041662_47041663insG	ENST00000377604.3	+	17	2629_2630	c.1887_1888insG	c.(1885-1890)acgggcfs	p.TG629fs	RBM10_ENST00000329236.7_Frame_Shift_Ins_p.TG551fs|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Frame_Shift_Ins_p.TG552fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	629					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ATAAGGAGACAGGGGCACCCTC	0.574													28	72	---	---	---	---					
MAGED2	10916	broad.mit.edu	37	X	54841728	54841728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:54841728delG	ENST00000375068.1	+	12	1667	c.1434delG	c.(1432-1434)gcfs	p.A478fs	MAGED2_ENST00000375053.2_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375058.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000375062.4_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000375060.1_Frame_Shift_Del_p.A393fs|MAGED2_ENST00000347546.3_Frame_Shift_Del_p.A422fs|MAGED2_ENST00000396224.1_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000218439.4_Frame_Shift_Del_p.A478fs|MAGED2_ENST00000343474.6_Frame_Shift_Del_p.A460fs			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	478	MAGE.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ACCGAGAGGCGATGGAAGCGG	0.512													39	152	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:70360680_70360682delGCA	ENST00000333646.6	+	42	6448_6450	c.6249_6251delGCA	c.(6247-6252)cgg>cg	p.RQ2083del	MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2080	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	94	---	---	---	---					
PNMA3	29944	broad.mit.edu	37	X	152225996	152225997	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3770-01A-01D-0969-08	TCGA-67-3770-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0769c88-4308-4bd2-8bfc-fb00e3c04d64	a3e3a62a-bd62-4063-b9b5-bbf8138d6c97	g.chrX:152225996_152225997insG	ENST00000447306.1	+	2	920_921	c.584_585insG	c.(583-585)cgtfs	p.R195fs	PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.R195fs|PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.R195fs	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	195					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cagatgtggcaggtgcccgagg	0.574													7	426	---	---	---	---					
