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
C20orf166-AS1	253868	broad.mit.edu	37	20	61143483	61143483	+	RNA	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr20:61143483C>T	ENST00000475015.1	-	0	855				C20orf166-AS1_ENST00000412495.1_RNA														p.R122Q(1)									ATAGAGACCCCGAATCCACGG	0.642000													9	33					0	0	0.435327	0	0
CENPBD1	92806	broad.mit.edu	37	16	90038224	90038224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:90038224G>A	ENST00000314994.3	-	1	718	c.107C>T	c.(106-108)gCg>gTg	p.A36V	RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	36	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|lung(2)	3						CTTCTCACCCGCTTCAAATCG	0.468000													12	25					0	0	0.387290	0	0
ZNF304	57343	broad.mit.edu	37	19	57865177	57865177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:57865177C>T	ENST00000391705.3	+	3	402	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	ZNF304_ENST00000598744.1_5'UTR|ZNF304_ENST00000443917.2_Missense_Mutation_p.R40C|ZNF304_ENST00000282286.5_Missense_Mutation_p.R40C	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ATTCCTGTACCGTGATGTGAT	0.453000													10	65					0	0	0.361761	0	0
MS4A2	2206	broad.mit.edu	37	11	59860935	59860935	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:59860935C>T	ENST00000278888.3	+	5	543	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	147					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GAATTACCATCCTGATCATCA	0.478000													28	83					0	0	0.706142	0	0
NOTCH1	4851	broad.mit.edu	37	9	139393696	139393696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:139393696G>A	ENST00000277541.6	-	32	6025	c.5950C>T	c.(5950-5952)Cga>Tga	p.R1984*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1984					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.R1984*(1)|p.R1985*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCTGTGGCTCGGTTCCGGATC	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			16	15					0	0	0.520397	0	0
HEXA	3073	broad.mit.edu	37	15	72641550	72641550	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr15:72641550T>C	ENST00000268097.5	-	8	1359	c.856A>G	c.(856-858)Acc>Gcc	p.T286A	HEXA_ENST00000457859.2_Missense_Mutation_p.T94A|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.T286A|HEXA_ENST00000566304.1_Missense_Mutation_p.T297A|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.T113A	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	286					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	p.T286A(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GGTCCAAAGGTGCCAGAGGGC	0.443000													25	25					0	0	0.693898	0	0
ZNF99	7652	broad.mit.edu	37	19	22942355	22942355	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:22942355C>T	ENST00000397104.3	-	4	418	c.419G>A	c.(418-420)aGt>aAt	p.S140N	ZNF99_ENST00000596209.1_Missense_Mutation_p.S119N					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTCATTGACACTTTCACAATC	0.328000													9	42					0	0	0.307466	0	0
CACNA1D	776	broad.mit.edu	37	3	53842756	53842756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:53842756C>T	ENST00000288139.3	+	47	6008	c.5890C>T	c.(5890-5892)Ccc>Tcc	p.P1964S	CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1944S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1920S|CACNA1D_ENST00000544977.1_Missense_Mutation_p.P323S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1944					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P1964S(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCCCATCTTCCCCCATCGCAC	0.637000													15	31					0	0	0.457914	0	0
HOMER3	9454	broad.mit.edu	37	19	19043825	19043825	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:19043825G>A	ENST00000596918.1	-	2	124	c.125C>T	c.(124-126)aCg>aTg	p.T42M	HOMER3_ENST00000539827.1_Silent_p.N147N|HOMER3_ENST00000542541.2_Silent_p.N147N|HOMER3_ENST00000433218.2_Silent_p.N147N|HOMER3_ENST00000355887.6_Silent_p.N147N|HOMER3_ENST00000392351.3_Silent_p.N147N|HOMER3_ENST00000594439.1_Silent_p.N111N|HOMER3_ENST00000221222.11_Silent_p.N147N|HOMER3_ENST00000594794.1_Intron																							CGCCGGGGCCGTTGGCACTGA	0.632000													26	79					0	0	0.729181	0	0
NAV3	89795	broad.mit.edu	37	12	78400845	78400845	+	Silent	SNP	C	C	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:78400845C>A	ENST00000397909.2	+	8	1700	c.1527C>A	c.(1525-1527)ggC>ggA	p.G509G	NAV3_ENST00000228327.6_Silent_p.G509G|NAV3_ENST00000266692.7_Silent_p.G509G|NAV3_ENST00000536525.2_Silent_p.G509G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	509						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCCCTAAGGGCAGCAAGACAA	0.423000										HNSCC(70;0.22)			14	40					7.93312e-07	8.39435e-07	0.457914	1	0
NRXN2	9379	broad.mit.edu	37	11	64419615	64419615	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:64419615C>T	ENST00000265459.6	-	13	2889	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	NRXN2_ENST00000377559.3_Missense_Mutation_p.E770K|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.E803K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E810K	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	810	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding	p.E810K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AACAGCGTTTCGGGGCCTTTA	0.577000													6	42					0	0	0.217242	0	0
SLC4A2	6522	broad.mit.edu	37	7	150772826	150772826	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr7:150772826G>A	ENST00000485713.1	+	21	4475	c.3435G>A	c.(3433-3435)ccG>ccA	p.P1145P	SLC4A2_ENST00000461735.1_Silent_p.P1131P|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000310317.5_Silent_p.P1063P|SLC4A2_ENST00000392826.2_Silent_p.P1136P|SLC4A2_ENST00000413384.2_Silent_p.P1145P	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1145	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTCATGCCGCCCAAACACC	0.582000													14	41					0	0	0.479597	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442550	89442550	+	RNA	SNP	C	C	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:89442550C>A	ENST00000492167.1	-	0	93																											CACCTGGGAGCCAGAGTAGCA	0.512000													26	65					1.68575e-08	1.80475e-08	0.717897	1	0
GALNT14	79623	broad.mit.edu	37	2	31155016	31155016	+	Missense_Mutation	SNP	C	C	T	rs139793019	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:31155016C>T	ENST00000349752.5	-	10	1615	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	GALNT14_ENST00000420311.2_Missense_Mutation_p.V291I|GALNT14_ENST00000324589.5_Missense_Mutation_p.V331I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Missense_Mutation_p.V306I|GALNT14_ENST00000356174.3_Missense_Mutation_p.V293I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	326	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V326I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTGCAGGGGACGATCTCTAGG	0.557000													9	49					0	0	0.335167	0	0
ETV1	2115	broad.mit.edu	37	7	13935629	13935629	+	Silent	SNP	T	T	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr7:13935629T>C	ENST00000343495.5	-	13	1980	c.1242A>G	c.(1240-1242)ccA>ccG	p.P414P	ETV1_ENST00000405192.2_Silent_p.P409P|ETV1_ENST00000403527.1_Silent_p.P392P|ETV1_ENST00000405358.4_Silent_p.P446P|ETV1_ENST00000420159.2_Silent_p.P374P|ETV1_ENST00000403685.1_Silent_p.P414P|ETV1_ENST00000405218.2_Silent_p.P432P|ETV1_ENST00000430479.1_Silent_p.P432P|ETV1_ENST00000242066.5_Silent_p.P414P|ETV1_ENST00000399357.3_Silent_p.P329P			P50549	ETV1_HUMAN	ets variant 1	432					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCTTCAGCAGTGGACGCTGAT	0.498000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								11	17					0	0	0.387290	0	0
SRMS	6725	broad.mit.edu	37	20	62178692	62178692	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr20:62178692G>A	ENST00000217188.1	-	1	165	c.125C>T	c.(124-126)cCc>cTc	p.P42L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	42							ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGGGAGCGTGGGCACTGGGTC	0.697000													72	259					0	0	0.870114	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs143365191	by1000genomes	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							GACAGCTGCCTTGTGTGGGAC	0.438000													3	50					0	0	0.115264	0	0
TULP1	7287	broad.mit.edu	37	6	35479474	35479474	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:35479474G>A	ENST00000229771.6	-	4	379	c.300C>T	c.(298-300)cgC>cgT	p.R100R	TULP1_ENST00000322263.4_Intron	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	100					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CCCGGGGGTCGCGCTTCTTGG	0.726000													4	7					0	0	0.184627	0	0
CLDN16	10686	broad.mit.edu	37	3	190127790	190127790	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:190127790A>G	ENST00000264734.2	+	5	1131	c.883A>G	c.(883-885)Acg>Gcg	p.T295A	CLDN16_ENST00000456423.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	295					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TCGCACAGAGACGGCCAAAAT	0.433000													3	54					0	0	0.115264	0	0
CD55	1604	broad.mit.edu	37	1	207504538	207504538	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:207504538G>A	ENST00000367064.3	+	6	1008	c.750G>A	c.(748-750)acG>acA	p.T250T	CD55_ENST00000465534.1_3'UTR|CD55_ENST00000391920.4_Silent_p.T250T|CD55_ENST00000367065.5_Silent_p.T250T|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000314754.8_Silent_p.T250T|CD55_ENST00000367062.4_Silent_p.T250T|CD55_ENST00000391921.4_Silent_p.T186T|CD55_ENST00000367063.2_Silent_p.T250T	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	250	Sushi 4.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	p.T250T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	AGTCTGTAACGTATGCATGTA	0.383000													33	78					0	0	0.769981	0	0
ZMYND11	10771	broad.mit.edu	37	10	294963	294963	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr10:294963G>C	ENST00000397962.3	+	14	2049	c.1621G>C	c.(1621-1623)Gaa>Caa	p.E541Q	ZMYND11_ENST00000397959.3_Missense_Mutation_p.E456Q|ZMYND11_ENST00000381584.1_Missense_Mutation_p.E524Q|ZMYND11_ENST00000381607.4_Missense_Mutation_p.E447Q|ZMYND11_ENST00000602682.1_Missense_Mutation_p.E456Q|ZMYND11_ENST00000402736.1_Missense_Mutation_p.E510Q|ZMYND11_ENST00000381604.4_Missense_Mutation_p.E501Q|ZMYND11_ENST00000558098.2_Missense_Mutation_p.E541Q|ZMYND11_ENST00000381602.4_Missense_Mutation_p.E501Q|ZMYND11_ENST00000509513.2_Missense_Mutation_p.E540Q|ZMYND11_ENST00000545619.1_Missense_Mutation_p.E421Q|ZMYND11_ENST00000381591.1_Missense_Mutation_p.E541Q|ZMYND11_ENST00000535374.1_Missense_Mutation_p.E336Q|ZMYND11_ENST00000403354.1_Missense_Mutation_p.E461Q|ZMYND11_ENST00000309776.4_Missense_Mutation_p.E501Q			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	501					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGAATTTGTAGAAGAAATCAA	0.388000													5	35					0	0	0.217242	0	0
XKR3	150165	broad.mit.edu	37	22	17288926	17288926	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr22:17288926G>T	ENST00000331428.5	-	2	140	c.38C>A	c.(37-39)aCa>aAa	p.T13K		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	13						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AACTCCTCCTGTGCTTTCTTC	0.408000													21	48					1.55795e-14	1.70811e-14	0.608945	1	0
HYDIN	54768	broad.mit.edu	37	16	71025263	71025263	+	Silent	SNP	T	T	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:71025263T>C	ENST00000393567.2	-	25	3972	c.3822A>G	c.(3820-3822)gaA>gaG	p.E1274E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1274										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTAGTTCTTTTTCTTCAGGCC	0.468000													23	28					0	0	0.654019	0	0
CPM	1368	broad.mit.edu	37	12	69264160	69264160	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:69264160C>T	ENST00000551568.1	-	5	511	c.451G>A	c.(451-453)Gac>Aac	p.D151N	CPM_ENST00000338356.3_Missense_Mutation_p.D151N|CPM_ENST00000546373.1_Missense_Mutation_p.D151N	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	151					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CGATTCAAGTCATACTGGTTA	0.388000													23	24					0	0	0.667858	0	0
NRXN1	9378	broad.mit.edu	37	2	50280513	50280513	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:50280513C>T	ENST00000404971.1	-	22	5483	c.4144G>A	c.(4144-4146)Gcc>Acc	p.A1382T	NRXN1_ENST00000406316.2_Missense_Mutation_p.A1312T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1334T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1342T|NRXN1_ENST00000342183.5_Missense_Mutation_p.A277T|NRXN1_ENST00000401710.1_Missense_Mutation_p.A330T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1312T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1334T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1312					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GATTGCATGGCAGTGGCTGTT	0.498000													17	72					0	0	0.500413	0	0
GNB3	2784	broad.mit.edu	37	12	6954826	6954826	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:6954826A>G	ENST00000229264.3	+	10	1181	c.776A>G	c.(775-777)cAg>cGg	p.Q259R	CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Missense_Mutation_p.Q258R|CDCA3_ENST00000604599.1_5'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	259					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CGGGCAGACCAGGAGCTGATC	0.617000													69	117					0	0	0.870114	0	0
DNAH11	8701	broad.mit.edu	37	7	21784487	21784487	+	Splice_Site	SNP	G	G	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr7:21784487G>T	ENST00000328843.6	+	52	8368		c.e52-1		DNAH11_ENST00000409508.3_Splice_Site			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCATCCTGCAGGGTATAGATA	0.493000									Kartagener syndrome				3	15					0.115264	0.116545	0.115264	1	0
SLC52A3	113278	broad.mit.edu	37	20	744434	744434	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr20:744434T>G	ENST00000381944.3	-	3	1022	c.781A>C	c.(781-783)Acc>Ccc	p.T261P	SLC52A3_ENST00000217254.7_Missense_Mutation_p.T261P|SLC52A3_ENST00000473664.1_Intron			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	261					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GAGTGGAGGGTGACCTGGTCA	0.622000													7	56					0	0	0.387290	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135722254	135722254	+	Silent	SNP	A	A	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:135722254A>T	ENST00000264977.3	+	2	2531	c.1914A>T	c.(1912-1914)tcA>tcT	p.S638S	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	638					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCAATTTATCAGTCTGTAGAA	0.413000													21	72					0	0	0.575678	0	0
TUBA1B	10376	broad.mit.edu	37	12	49522572	49522572	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:49522572G>A	ENST00000336023.5	-	4	619	c.525C>T	c.(523-525)ccC>ccT	p.P175P	RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	175					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						TGGAAACCTGGGGTGCTGGGT	0.537000													4	27					0	0	0.335167	0	0
TLN2	83660	broad.mit.edu	37	15	63054621	63054621	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr15:63054621G>A	ENST00000561311.1	+	38	5160	c.4930G>A	c.(4930-4932)Gac>Aac	p.D1644N	TLN2_ENST00000472902.1_Missense_Mutation_p.D37N|TLN2_ENST00000306829.6_Missense_Mutation_p.D1644N			Q9Y4G6	TLN2_HUMAN	talin 2	1644					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.D1644N(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TACAGTGTCCGACTCCATCAA	0.557000													39	91					0	0	0.804634	0	0
FSCB	84075	broad.mit.edu	37	14	44975348	44975348	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:44975348C>T	ENST00000340446.4	-	1	1134	c.843G>A	c.(841-843)gcG>gcA	p.A281A		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	281						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GTCTGGGCTCCGCTTTAGCAG	0.478000													18	40					0	0	0.557998	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531710	84531710	+	RNA	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:84531710C>T	ENST00000527857.1	+	0	1732					NR_026851.1																						CCTCTACCCTCGCCTCAAACC	0.512000													8	17					0	0	0.307466	0	0
IRX6	79190	broad.mit.edu	37	16	55360387	55360387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:55360387C>T	ENST00000290552.7	+	2	1517	c.185C>T	c.(184-186)cCg>cTg	p.P62L	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	62						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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						AGTGCGCGACCGGAGCTGGGC	0.667000													7	23					0	0	0.248553	0	0
CLUH	23277	broad.mit.edu	37	17	2598736	2598736	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr17:2598736G>A	ENST00000570628.1	-	14	2464	c.2359C>T	c.(2359-2361)Cgc>Tgc	p.R787C	CLUH_ENST00000575014.1_Missense_Mutation_p.R720C|CLUH_ENST00000435359.1_Missense_Mutation_p.R787C|CLUH_ENST00000538975.1_Missense_Mutation_p.R787C					clustered mitochondria (cluA/CLU1) homolog																		CCCAGGTAGCGCATGTTGATG	0.697000													18	41					0	0	0.539581	0	0
RNF25	64320	broad.mit.edu	37	2	219529928	219529928	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:219529928C>T	ENST00000295704.2	-	8	1056	c.616G>A	c.(616-618)Gtg>Atg	p.V206M		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	206					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATCATACACGAGGGGCTCT	0.498000													6	20					0	0	0.278610	0	0
ZNF71	58491	broad.mit.edu	37	19	57132791	57132791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:57132791G>T	ENST00000328070.6	+	3	370	c.136G>T	c.(136-138)Gag>Tag	p.E46*		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	46						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CAGCTGGCCAGAGAGGCCGCG	0.617000													8	28					0.0477658	0.0488391	0.307466	1	0
OR2T11	127077	broad.mit.edu	37	1	248789870	248789870	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:248789870G>T	ENST00000330803.2	-	1	621	c.560C>A	c.(559-561)gCa>gAa	p.A187E		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			GGACGTGTCTGCACAGGCCAG	0.468000													16	72					2.35188e-11	2.54787e-11	0.539581	1	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													3	47					0	0	0.115264	0	0
KIAA1468	57614	broad.mit.edu	37	18	59928798	59928798	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr18:59928798C>A	ENST00000256858.6	+	16	2505	c.2257C>A	c.(2257-2259)Cag>Aag	p.Q753K	KIAA1468_ENST00000398130.2_Missense_Mutation_p.Q753K			Q9P260	K1468_HUMAN	KIAA1468	753							binding	p.Q753K(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTCTGCCTTGCAGTCCTTGAT	0.433000													10	36					3.86212e-05	4.03969e-05	0.361761	1	0
ZNF560	147741	broad.mit.edu	37	19	9579792	9579792	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:9579792C>A	ENST00000301480.4	-	9	814	c.601G>T	c.(601-603)Ggg>Tgg	p.G201W		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AACTGTATCCCATTTAATGTT	0.343000													3	14					0.004672	0.00483127	0.115264	1	0
PRODH2	58510	broad.mit.edu	37	19	36303355	36303355	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:36303355A>C	ENST00000301175.3	-	3	523	c.506T>G	c.(505-507)gTg>gGg	p.V169G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	169					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGCCCTTCACCTCCTCTGC	0.647000													6	27					0	0	0.307466	0	0
LRRC8A	56262	broad.mit.edu	37	9	131678563	131678563	+	Silent	SNP	C	C	T	rs139232646		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:131678563C>T	ENST00000259324.5	+	4	2869	c.2346C>T	c.(2344-2346)agC>agT	p.S782S	LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372599.3_Silent_p.S782S|LRRC8A_ENST00000372600.4_Silent_p.S782S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	782					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TCAAGCGCAGCGGCTTGGTGG	0.682000													6	12					0	0	0.248553	0	0
POLQ	10721	broad.mit.edu	37	3	121207697	121207697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:121207697G>A	ENST00000264233.5	-	16	4209	c.4081C>T	c.(4081-4083)Cag>Tag	p.Q1361*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1361					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.Q1496*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATTGAGTTCTGTTGGACTAAG	0.438000								DNA polymerases (catalytic subunits)					25	153					0	0	0.654019	0	0
CNGA3	1261	broad.mit.edu	37	2	99013496	99013496	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:99013496G>A	ENST00000393504.1	+	8	2280	c.1863G>A	c.(1861-1863)gcG>gcA	p.A621A	CNGA3_ENST00000272602.2_Silent_p.A621A|CNGA3_ENST00000436404.2_Silent_p.A603A|CNGA3_ENST00000409937.1_Silent_p.A625A	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	621					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGCGGGCGCGGACCCCAAGG	0.622000													31	19					0	0	0.750413	0	0
AXDND1	126859	broad.mit.edu	37	1	179497484	179497484	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:179497484A>T	ENST00000367618.3	+	23	3020	c.2633A>T	c.(2632-2634)aAg>aTg	p.K878M		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	878	Glu-rich.							p.K878M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TCTACAGAGAAGGAAAAACTC	0.428000													13	38					0	0	0.435327	0	0
PDLIM2	64236	broad.mit.edu	37	8	22438929	22438929	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr8:22438929G>A	ENST00000265810.4	+	2	246	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	PDLIM2_ENST00000397761.2_Missense_Mutation_p.R44Q|PDLIM2_ENST00000339162.7_Missense_Mutation_p.R44Q|PDLIM2_ENST00000308354.7_Missense_Mutation_p.R294Q|PDLIM2_ENST00000409417.1_Missense_Mutation_p.R44Q|PDLIM2_ENST00000397760.4_Missense_Mutation_p.R44Q|PDLIM2_ENST00000409141.1_Missense_Mutation_p.R44Q	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	44	PDZ.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GCTGACCTCCGGCCTGGAGAC	0.662000													6	9					0	0	0.248553	0	0
BMS1	9790	broad.mit.edu	37	10	43316394	43316394	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr10:43316394C>T	ENST00000374518.4	+	18	3026	c.2963C>T	c.(2962-2964)cCa>cTa	p.P988L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	988					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTATCACTCCACAGGGAACT	0.358000													30	23					0	0	0.769981	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804807	21804807	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr10:21804807G>A	ENST00000449193.2	-	4	4197	c.1945C>T	c.(1945-1947)Ccc>Tcc	p.P649S	SKIDA1_ENST00000444772.3_Missense_Mutation_p.P570S	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		TGCGAAGAGGGCAAATCCGTA	0.438000													3	40					0	0	0.150653	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720458	50720458	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr22:50720458G>A	ENST00000449103.1	-	20	3310	c.3170C>T	c.(3169-3171)tCc>tTc	p.S1057F	PLXNB2_ENST00000359337.4_Missense_Mutation_p.S1057F			O15031	PLXB2_HUMAN	plexin B2	1057	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACAGCCGGGGACAGGAAGAC	0.647000													7	21					0	0	0.278610	0	0
MAP4	4134	broad.mit.edu	37	3	47912432	47912432	+	Silent	SNP	C	C	T	rs146957827		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:47912432C>T	ENST00000426837.2	-	15	6252	c.6165G>A	c.(6163-6165)tcG>tcA	p.S2055S	MAP4_ENST00000360240.6_Silent_p.S910S|MAP4_ENST00000441748.2_Silent_p.S62S|MAP4_ENST00000395734.3_Silent_p.S910S|MAP4_ENST00000383737.4_Silent_p.S638S|MAP4_ENST00000264724.11_Silent_p.S645S|MAP4_ENST00000420772.2_Silent_p.S641S			P27816	MAP4_HUMAN	microtubule-associated protein 4	910					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGGTTTGGCCGAGGTGGGCT	0.632000													27	39					0	0	0.729181	0	0
RBM43	375287	broad.mit.edu	37	2	152112091	152112091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:152112091G>A	ENST00000331426.5	-	2	321	c.170C>T	c.(169-171)aCa>aTa	p.T57I		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	57	RRM.						nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		CTTGGTTCTTGTCGGATATAT	0.318000													45	63					0	0	0.870114	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			28	4					0	0	0.693898	0	0
SEC14L2	23541	broad.mit.edu	37	22	30803469	30803469	+	Silent	SNP	C	C	T	rs144595900	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr22:30803469C>T	ENST00000312932.9	+	5	560	c.300C>T	c.(298-300)taC>taT	p.Y100Y	SEC14L2_ENST00000403484.1_Silent_p.Y26Y|SEC14L2_ENST00000402592.3_Intron|SEC14L2_ENST00000459728.1_3'UTR|SEC14L2_ENST00000405717.3_Silent_p.Y100Y	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	100	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CAGTCTGGTACGACATAATTG	0.557000													40	82					0	0	0.853193	0	0
AHSA1	10598	broad.mit.edu	37	14	77926055	77926055	+	Silent	SNP	G	G	A	rs146186794	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:77926055G>A	ENST00000216479.3	+	2	337	c.177G>A	c.(175-177)acG>acA	p.T59T	AHSA1_ENST00000555517.1_Silent_p.T59T|AHSA1_ENST00000535854.2_Silent_p.T59T	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	59					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GTGAGGTGACGGAAGTGAGTA	0.448000													74	56					0	0	0.870114	0	0
SETDB1	9869	broad.mit.edu	37	1	150923168	150923168	+	Silent	SNP	A	A	G			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:150923168A>G	ENST00000271640.5	+	13	2005	c.1815A>G	c.(1813-1815)ctA>ctG	p.L605L	SETDB1_ENST00000368969.4_Silent_p.L605L|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	605	MBD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCCGTTACTATATGACTTCC	0.517000													37	38					0	0	0.804634	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48578033	48578033	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:48578033C>T	ENST00000354276.3	-	12	1324	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.E333K|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.E343K|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.E333K	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	333	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCTTTCCTTTCGGGGTCCTCA	0.562000													39	125					0	0	0.847076	0	0
ASPM	259266	broad.mit.edu	37	1	197111689	197111689	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:197111689A>T	ENST00000367409.4	-	3	1949	c.1693T>A	c.(1693-1695)Tct>Act	p.S565T	ASPM_ENST00000294732.7_Missense_Mutation_p.S565T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	565					mitosis	cytoplasm|nucleus	calmodulin binding			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						GTTGTCGAAGAGGGTGTTACC	0.343000													27	83					0	0	0.667858	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777895	110777895	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:110777895C>T	ENST00000368919.3	-	2	445	c.379G>A	c.(379-381)Gat>Aat	p.D127N	SLC22A16_ENST00000439654.1_Missense_Mutation_p.D127N|SLC22A16_ENST00000456137.2_Missense_Mutation_p.D127N|SLC22A16_ENST00000330550.4_Missense_Mutation_p.D93N|SLC22A16_ENST00000461487.1_5'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	127					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ATGTAGCCATCCACACAAGGA	0.488000													55	77					0	0	0.870114	0	0
TRIO	7204	broad.mit.edu	37	5	14378176	14378176	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr5:14378176G>A	ENST00000344204.4	+	20	3411	c.3387G>A	c.(3385-3387)atG>atA	p.M1129I	TRIO_ENST00000509967.2_Missense_Mutation_p.M1080I|TRIO_ENST00000537187.1_Missense_Mutation_p.M1129I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1129					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.M1129I(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACTGGACCATGAGGAAGAGAC	0.493000													4	8					0	0	0.150653	0	0
FJX1	24147	broad.mit.edu	37	11	35641069	35641069	+	Silent	SNP	C	C	T	rs77030854		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:35641069C>T	ENST00000317811.4	+	1	1335	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	295						extracellular space				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				TAATCCTTTTCGACTACCTGA	0.647000													7	38					0	0	0.361761	0	0
PTPRN	5798	broad.mit.edu	37	2	220164844	220164844	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:220164844G>A	ENST00000295718.2	-	9	1539	c.1299C>T	c.(1297-1299)ccC>ccT	p.P433P	PTPRN_ENST00000423636.2_Silent_p.P343P|PTPRN_ENST00000409251.3_Silent_p.P433P|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	433					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGGCAGCTTTGGGAGGCTCAG	0.652000													31	52					0	0	0.769981	0	0
FOXB2	442425	broad.mit.edu	37	9	79635500	79635500	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:79635500C>T	ENST00000376708.1	+	1	930	c.930C>T	c.(928-930)gtC>gtT	p.V310V		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	310					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			breast(1)|lung(8)|ovary(1)	10						GCAACGTCGTCAGCTCCGTGT	0.721000													6	9					0	0	0.217242	0	0
RNASE13	440163	broad.mit.edu	37	14	21502302	21502302	+	Missense_Mutation	SNP	C	C	T	rs146892669	by1000genomes	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:21502302C>T	ENST00000382951.3	-	2	283	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	49						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.R49Q(1)		cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		ACAATAGCCCCGGAAACCCTT	0.468000													78	44					0	0	0.870114	0	0
SH3RF3	344558	broad.mit.edu	37	2	109964267	109964267	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:109964267C>T	ENST00000309415.6	+	2	711	c.711C>T	c.(709-711)caC>caT	p.H237H		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	237	SH3 1.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GCGAGCTGCACGGCACACAGG	0.587000													6	20					0	0	0.217242	0	0
C2CD2	25966	broad.mit.edu	37	21	43327154	43327154	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr21:43327154G>A	ENST00000380486.3	-	10	1506	c.1265C>T	c.(1264-1266)gCt>gTt	p.A422V	C2CD2_ENST00000329623.7_Missense_Mutation_p.A267V	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	422						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GGTCTTCACAGCAGTGACAGT	0.582000													15	27					0	0	0.457914	0	0
PRKDC	5591	broad.mit.edu	37	8	48852134	48852134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr8:48852134G>A	ENST00000314191.2	-	11	1146	c.1090C>T	c.(1090-1092)Cgt>Tgt	p.R364C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R364C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	364					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCATATCCACGGATAGCAATA	0.338000								Non-homologous end-joining					28	87					0	0	0.740014	0	0
STK38	11329	broad.mit.edu	37	6	36485513	36485513	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:36485513G>C	ENST00000229812.7	-	6	780	c.495C>G	c.(493-495)atC>atG	p.I165M		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	165	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	p.I165M(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAACTCCATGATTAGGTAGA	0.423000													21	56					0	0	0.624587	0	0
HSF5	124535	broad.mit.edu	37	17	56536136	56536136	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr17:56536136C>T	ENST00000323777.3	-	5	1822	c.1713G>A	c.(1711-1713)aaG>aaA	p.K571K		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	571						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACCAGGGGACTTTCCTTGTT	0.418000													16	28					0	0	0.500413	0	0
FOCAD	54914	broad.mit.edu	37	9	20944734	20944734	+	Silent	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:20944734C>T	ENST00000380249.1	+	31	3880	c.3516C>T	c.(3514-3516)caC>caT	p.H1172H	FOCAD_ENST00000338382.6_Silent_p.H1172H|FOCAD_ENST00000605086.1_Silent_p.H608H	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1172						integral to membrane	binding										TGTCTGCGCACGTAGATGACA	0.512000													10	20					0	0	0.387290	0	0
PRSS54	221191	broad.mit.edu	37	16	58324903	58324903	+	Missense_Mutation	SNP	C	C	T	rs142664927	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:58324903C>T	ENST00000219301.4	-	4	617	c.223G>A	c.(223-225)Gag>Aag	p.E75K	PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Missense_Mutation_p.E75K	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	75	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.E75K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACCCAGAACTCGCTCAGGATG	0.647000													15	54					0	0	0.479597	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785506	22785506	+	RNA	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:22785506C>T	ENST00000600260.1	+	0	1595					NR_033899.1																						CAGACACCATCGGTGAGGCGG	0.622000													31	76					0	0	0.804634	0	0
PTCH2	8643	broad.mit.edu	37	1	45292686	45292686	+	Silent	SNP	G	G	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:45292686G>T	ENST00000447098.2	-	17	2594	c.2583C>A	c.(2581-2583)acC>acA	p.T861T	PTCH2_ENST00000372192.3_Silent_p.T861T	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	861					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCACCCACACGGTCAGCCCCA	0.622000									Basal Cell Nevus syndrome				39	189					4.14481e-20	4.59973e-20	0.819951	1	0
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	G	A			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:170871082G>A	ENST00000392092.2	+	3	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	86	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q86Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612000													3	19					0	0	0.115264	0	0
PAX1	5075	broad.mit.edu	37	20	21695343	21695343	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr20:21695343C>T	ENST00000398485.2	+	5	1561	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	503					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCGGGGTGCACGCCCAGCCAG	0.682000													5	22					0	0	0.184627	0	0
ZNF816	125893	broad.mit.edu	37	19	53453768	53453768	+	Silent	SNP	A	A	T			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:53453768A>T	ENST00000357666.4	-	5	1560	c.1260T>A	c.(1258-1260)acT>acA	p.T420T	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.T420T|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ATCCCTCTCCAGTATGAATCT	0.388000													50	38					0	0	0.870114	0	0
RGAG4	340526	broad.mit.edu	37	X	71350464	71350464	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chrX:71350464T>G	ENST00000545866.1	-	1	1294	c.927A>C	c.(925-927)agA>agC	p.R309S	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.R309S			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	309										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CGCGCACTTTTCTTTCTATCT	0.483000													40	74					0	0	0.834066	0	0
HJURP	55355	broad.mit.edu	37	2	234750497	234750497	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:234750497delC	ENST00000411486.2	-	8	994	c.929delG	c.(928-930)tcfs	p.C310fs	HJURP_ENST00000432087.1_Frame_Shift_Del_p.C256fs|HJURP_ENST00000441687.1_Frame_Shift_Del_p.C225fs	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	310					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGCTCCTTTGCAATATGTTTT	0.468													10	23	---	---	---	---					
CLDN22	53842	broad.mit.edu	37	4	184241208	184241209	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr4:184241208_184241209delAC	ENST00000323319.5	-	1	718_719	c.163_164delGT	c.(163-165)cfs	p.V55fs	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	55					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTCTTGGATGACACAGGTTTGC	0.465													23	37	---	---	---	---					
HLA-B	3106	broad.mit.edu	37	6	31322969	31322970	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:31322969_31322970delCA	ENST00000412585.2	-	5	954_955	c.926_927delTG	c.(925-927)gfs	p.V309fs		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CAACAATGCCCACGATGGGGAC	0.589									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				20	32	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5353056	5353057	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr7:5353056_5353057insC	ENST00000399537.4	-	27	7813_7814	c.7465_7466insG	c.(7465-7467)gggfs	p.G2489fs	TNRC18_ENST00000430969.1_Frame_Shift_Ins_p.G2489fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2489							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCAGCCCCCCGCCCCCGGATCC	0.688													5	9	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974755	21974758	+	Frame_Shift_Del	DEL	CCGA	CCGA	-	rs104894097		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:21974755_21974758delCCGA	ENST00000304494.5	-	1	339_342	c.69_72delTCGG	c.(67-72)ggfs	p.GR23fs	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.GR23fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.GR23fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.GR23fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	23			G -> D (in a pancreas tumor and a melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.R24P(2)|p.0(1)|p.R24fs*20(1)|p.R22fs*14(1)|p.G23G(1)|p.R24Q(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTCCTCTACCCGACCCCGGGCCG	0.740		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	17	---	---	---	---					
MYBPC3	4607	broad.mit.edu	37	11	47354867	47354867	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:47354867delG	ENST00000399249.2	-	29	3262	c.3208delC	c.(3208-3210)agfs	p.Q1070fs	MYBPC3_ENST00000256993.4_Frame_Shift_Del_p.Q1069fs|MYBPC3_ENST00000545968.1_Frame_Shift_Del_p.Q1070fs			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1069	Fibronectin type-III 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CGGAGATCCTGGGGAGGACTT	0.637													2	4	---	---	---	---					
ARAP1	116985	broad.mit.edu	37	11	72412741	72412741	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:72412741delT	ENST00000359373.5	-	16	3106	c.2255delA	c.(2254-2256)agfs	p.K752fs	ARAP1_ENST00000426523.1_Frame_Shift_Del_p.K507fs|ARAP1_ENST00000429686.1_Frame_Shift_Del_p.K446fs|ARAP1_ENST00000334211.8_Frame_Shift_Del_p.K507fs|ARAP1_ENST00000393605.3_Frame_Shift_Del_p.K512fs|ARAP1_ENST00000455638.2_Frame_Shift_Del_p.K752fs|ARAP1_ENST00000393609.3_Frame_Shift_Del_p.K752fs|ARAP1-AS2_ENST00000500163.2_RNA			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	752	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGAGGCAGTCTTGTAGAGGAA	0.627													279	195	---	---	---	---					
ANKRD49	54851	broad.mit.edu	37	11	94230120	94230120	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:94230120delA	ENST00000544253.1	+	2	379	c.261delA	c.(259-261)gtfs	p.V87fs	ANKRD49_ENST00000302755.4_Intron|ANKRD49_ENST00000540349.1_Frame_Shift_Del_p.V87fs|ANKRD49_ENST00000544612.1_Intron			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	87					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAATCGGGTAAAAAAAAAAA	0.393													13	414	---	---	---	---					
CDC42BPB	9578	broad.mit.edu	37	14	103452874	103452875	+	In_Frame_Ins	INS	-	-	TCA			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:103452874_103452875insTCA	ENST00000361246.2	-	6	927_928	c.639_640insTGA	c.(637-642)catccg>caTGAtccg	p.213_214HP>HDP		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	213	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCCAGGCGGATATGACCATTCA	0.376													87	69	---	---	---	---					
NFIC	4782	broad.mit.edu	37	19	3453868	3453869	+	Frame_Shift_Ins	INS	-	-	C	rs150025045	by1000genomes	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:3453868_3453869insC	ENST00000589123.1	+	9	1470_1471	c.1350_1351insC	c.(1348-1353)aaccgcfs	p.R451fs	NFIC_ENST00000590282.1_Intron|NFIC_ENST00000586919.1_Intron|NFIC_ENST00000443272.2_Frame_Shift_Ins_p.R460fs|NFIC_ENST00000346156.5_Intron|NFIC_ENST00000341919.3_Intron|NFIC_ENST00000395111.3_Intron	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	460					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CTGCCACCAAACCCGCCACCAC	0.698													2	4	---	---	---	---					
