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
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:53116804G>A	ENST00000597597.1	-	2	3267	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Silent_p.I338I			P51522	ZNF83_HUMAN	zinc finger protein 83	338						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I338I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413000													6	447					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1961076	1961076	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:1961076G>A	ENST00000378585.4	+	8	1017	c.934G>A	c.(934-936)Gtc>Atc	p.V312I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	312						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGCACTGGACGTCTACTTCTG	0.592000													24	153					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157522425	157522425	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:157522425G>A	ENST00000346085.5	+	18	4698	c.4697G>A	c.(4696-4698)cGc>cAc	p.R1566H	ARID1B_ENST00000350026.5_Missense_Mutation_p.R1553H|ARID1B_ENST00000367148.1_Missense_Mutation_p.R1606H|ARID1B_ENST00000275248.4_Missense_Mutation_p.R1548H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1553	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.R1548H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGGAGAACCGCATGTCTCCA	0.622000													9	469					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546430	11546430	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:11546430G>A	ENST00000389362.4	-	3	617	c.582C>T	c.(580-582)ccC>ccT	p.P194P	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GAGGAGGTGGGGGACCTTGGG	0.607000													9	1128					0	0	1	0	0
CSAG4	0	broad.mit.edu	37	X	151896244	151896244	+	RNA	SNP	A	A	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:151896244A>C	ENST00000361201.4	-	0	486					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						GTGTTGGCCCACTCCATTCCT	0.522000													12	152					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154667694	154667694	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:154667694C>T	ENST00000404039.1	+	20	2357	c.1770C>T	c.(1768-1770)ggC>ggT	p.G590G	DPP6_ENST00000427557.1_Silent_p.G547G|DPP6_ENST00000332007.3_Silent_p.G592G|DPP6_ENST00000377770.3_Silent_p.G654G	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	654					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCAGCCACGGCGCGGTGGTGG	0.647000													10	106					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823129	47823129	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:47823129C>T	ENST00000355085.3	+	2	117	c.95C>T	c.(94-96)aCg>aTg	p.T32M		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	32					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	p.T32M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACTTCTAACACGCTGCGTGTT	0.532000													49	218					0	0	1	0	0
CTD-2049J23.2	0	broad.mit.edu	37	3	159818606	159818606	+	RNA	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:159818606C>T	ENST00000497452.1	-	0	517																											CTCGGCCTGGCGCGGGGGACG	0.726000													14	99					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75901461	75901461	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:75901461G>A	ENST00000322507.8	-	5	659	c.350C>T	c.(349-351)tCg>tTg	p.S117L	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.S117L|COL12A1_ENST00000483888.2_Missense_Mutation_p.S117L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	117					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGGCTTTGTCGAACTACCTGT	0.299000													38	239					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73044612	73044612	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:73044612G>A	ENST00000335350.6	+	3	856	c.440G>A	c.(439-441)cGc>cAc	p.R147H	UNC5B_ENST00000373192.4_Missense_Mutation_p.R147H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	147	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCTACGTCCGCATCGCCTGT	0.652000													5	298					0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109719343	109719343	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:109719343G>A	ENST00000299162.5	-	9	1267	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	FOXN4_ENST00000355216.1_Missense_Mutation_p.P208L	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	388					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|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			large_intestine(5)|lung(9)|ovary(2)	16						GCTGAGGTCCGGCAGGGCGTG	0.657000													21	79					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138566147	138566147	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:138566147G>C	ENST00000440172.1	-	11	4264	c.4216C>G	c.(4216-4218)Cgt>Ggt	p.R1406G	KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1356G|KIAA1549_ENST00000422774.1_Missense_Mutation_p.R1406G	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1406						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCTCTGTGACGAACATTCTTG	0.502000			O	BRAF	pilocytic astrocytoma								53	297					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89413808	89413808	+	RNA	SNP	A	A	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:89413808A>G	ENST00000532352.1	+	0	1293							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.P160P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTGTACACCACTGATGTACA	0.294000													4	72					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34923961	34923961	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:34923961C>T	ENST00000356577.4	+	3	2899	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.T808T|SON_ENST00000381679.4_Silent_p.T808T|SON_ENST00000300278.4_Silent_p.T808T	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	808	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.T808T(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTTAGCAACCAGCTCCATGG	0.512000													7	836					0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148951330	148951330	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:148951330C>T	ENST00000335870.2	+	5	1440	c.1312C>T	c.(1312-1314)Cac>Tac	p.H438Y		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GAGCTTCAGTCACCCATCTGA	0.587000													51	238					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153884185	153884185	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:153884185C>T	ENST00000511601.1	+	8	1120	c.932C>T	c.(931-933)gCc>gTc	p.A311V	FHDC1_ENST00000260008.3_Missense_Mutation_p.A311V			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	311	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGAGGGTATGCCGGCAATGCA	0.403000													6	375					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210637852	210637852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:210637852G>T	ENST00000439458.1	+	2	207	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	UNC80_ENST00000272845.5_Nonsense_Mutation_p.E43*|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	43						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GAAGCAATATGAAGCTTCTTG	0.313000													19	92					3.10358e-05	3.21113e-05	1	1	0
SOX17	64321	broad.mit.edu	37	8	55372148	55372148	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:55372148G>T	ENST00000297316.4	+	2	1042	c.838G>T	c.(838-840)Ggt>Tgt	p.G280C		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	280	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			AGAGCCCGCGGGTCCCTCGAT	0.761000													4	7					1.06961e-07	1.11775e-07	1	1	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C	rs142536398	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:43587730A>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTATTGATTCATTTTATTCAT	0.343000													4	165					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89399992	89399992	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:89399992C>T	ENST00000439576.2	+	12	4550	c.4176C>T	c.(4174-4176)agC>agT	p.S1392S	ACAN_ENST00000352105.7_Silent_p.S1392S|ACAN_ENST00000561243.1_Silent_p.S1392S|ACAN_ENST00000559004.1_Silent_p.S1392S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1392					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGGACATCAGCGGGCTTCCTT	0.552000													8	713					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93611912	93611912	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:93611912G>A	ENST00000394236.3	-	10	1336	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y	PROS1_ENST00000407433.1_Silent_p.Y209Y	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	340	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TAGATTCTGCGTACAGTATCA	0.393000													4	124					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47664991	47664991	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:47664991G>A	ENST00000397708.1	-	24	5022	c.4768C>T	c.(4768-4770)Cat>Tat	p.H1590Y	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.H1590Y|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1590					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			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)					CTTCTGTCATGGAAAAAGCGG	0.552000													38	204					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56492887	56492887	+	Nonsense_Mutation	SNP	C	C	T	rs149154059		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:56492887C>T	ENST00000370754.5	-	32	4448	c.4449G>A	c.(4447-4449)tgG>tgA	p.W1483*	DST_ENST00000361203.3_Nonsense_Mutation_p.W1305*|DST_ENST00000312431.6_Nonsense_Mutation_p.W1305*|DST_ENST00000518935.1_Nonsense_Mutation_p.W979*|DST_ENST00000370765.6_Nonsense_Mutation_p.W979*|DST_ENST00000370769.4_Nonsense_Mutation_p.W1305*|DST_ENST00000370788.2_Nonsense_Mutation_p.W1305*|DST_ENST00000446842.2_Nonsense_Mutation_p.W979*|DST_ENST00000421834.2_Nonsense_Mutation_p.W1305*|DST_ENST00000244364.6_Nonsense_Mutation_p.W979*			Q03001	DYST_HUMAN	dystonin	1305					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTGCTGGATCCAATCATCTA	0.403000													12	191					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48677726	48677726	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:48677726G>A	ENST00000544264.1	-	35	9587	c.9307C>T	c.(9307-9309)Cgg>Tgg	p.R3103W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R3098W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3098					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GACCCTGGCCGGCTCAGGGGA	0.657000													5	429					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749669	22749669	+	RNA	SNP	T	T	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:22749669T>G	ENST00000511446.1	+	0	1040				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGGATTGGATCTACGTGGTA	0.383000													9	43					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													7	144					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													7	365					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367483.4_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	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			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						CACCCACCACCCCCAAGGAGC	0.637000													8	551					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K														p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338000													6	330					0	0	1	0	0
MST1L	0	broad.mit.edu	37	1	17085364	17085364	+	RNA	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:17085364G>A	ENST00000455405.2	-	0	3																											CAGGGCCCATGGCTATCCCCA	0.597000													5	167					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039066	11039066	+	RNA	SNP	A	A	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:11039066A>G	ENST00000470054.1	-	0	1137									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)		TCCAGTAGAAAGTTCAGAATC	0.393000													45	1430					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41280045	41280045	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:41280045C>T	ENST00000361937.3	-	30	4122	c.3698G>A	c.(3697-3699)cGc>cAc	p.R1233H	INO80_ENST00000561244.1_5'UTR|INO80_ENST00000401393.3_Missense_Mutation_p.R1233H			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1233	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGCAGAATGCGTTCTTCAAT	0.507000													6	822					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769988	31769988	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:31769988C>T	ENST00000240587.4	-	2	1038	c.711G>A	c.(709-711)ggG>ggA	p.G237G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	237					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)					CGCGGTAATGCCCCGTCTCGT	0.582000													6	872					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:57484421G>A	ENST00000371100.4	+	8	3083	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			84	204					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													5	153					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46729748	46729748	+	Missense_Mutation	SNP	G	G	A	rs143519761		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:46729748G>A	ENST00000318962.4	-	3	225	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R48W	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	48					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCAAGAGCCGCAGGCACTCT	0.612000													23	147					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2984085	2984085	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:2984085G>A	ENST00000396946.4	-	5	848	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	149					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCTCGCAGCGTTGCAGGTCC	0.607000			Mis		DLBCL								68	372					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132175223	132175223	+	Silent	SNP	C	C	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:132175223C>A	ENST00000260818.6	+	10	1325	c.1077C>A	c.(1075-1077)ctC>ctA	p.L359L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	359							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCCTTCACCTCAGGTTCTTAG	0.378000													39	149					3.43241e-23	3.6231e-23	1	1	0
NLRP4	147945	broad.mit.edu	37	19	56369561	56369561	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:56369561A>G	ENST00000301295.6	+	3	1224	c.802A>G	c.(802-804)Aag>Gag	p.K268E	NLRP4_ENST00000587891.1_Missense_Mutation_p.K193E|NLRP4_ENST00000346986.5_Missense_Mutation_p.K268E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	268	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTGAGGAAGAAGATGCTCCC	0.592000													60	281					0	0	1	0	0
PVRL3	25945	broad.mit.edu	37	3	110852707	110852707	+	Missense_Mutation	SNP	G	G	A	rs15611	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:110852707G>A	ENST00000485303.1	+	6	1570	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	432			R -> L (in dbSNP:rs15611).		adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AGGAGAAGACGGACGTTTCGT	0.413000													80	296					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													6	360					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55145625	55145625	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:55145625G>A	ENST00000414150.2	+	13	2566	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	MROH7_ENST00000409996.1_Missense_Mutation_p.R331H|MROH7_ENST00000545244.1_Missense_Mutation_p.R331H|MROH7_ENST00000395690.2_Missense_Mutation_p.R763H|MROH7_ENST00000421030.2_Missense_Mutation_p.R763H|MROH7_ENST00000339553.5_Missense_Mutation_p.R763H|MROH7_ENST00000454855.2_Missense_Mutation_p.R281H					maestro heat-like repeat family member 7																		CCTCGGGCCCGCCAGGTGGCC	0.637000													6	851					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													5	155					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13672892	13672892	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:13672892G>A	ENST00000404922.3	+	16	3268	c.3149G>A	c.(3148-3150)gGg>gAg	p.G1050E	FBLN2_ENST00000535798.1_Missense_Mutation_p.G1029E|FBLN2_ENST00000492059.1_Missense_Mutation_p.G1050E|FBLN2_ENST00000295760.7_Missense_Mutation_p.G1003E	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1033	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACGTGCCAGGGAGCTACCAG	0.637000													25	37					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249341	110249341	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:110249341G>T	ENST00000374672.4	-	4	1705	c.1232C>A	c.(1231-1233)tCc>tAc	p.S411Y		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	445	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CTTGAGATGGGAACTCTTTGT	0.592000													100	530					2.03867e-50	2.18503e-50	1	1	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													6	344					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26457784	26457784	+	Silent	SNP	C	C	T	rs35541310	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:26457784C>T	ENST00000265944.5	+	28	3421	c.3255C>T	c.(3253-3255)agC>agT	p.S1085S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1085	IQ 2.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGAAAGAAAGCGCTATAATAA	0.328000													29	140					0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224868727	224868727	+	Splice_Site	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:224868727C>T	ENST00000272133.3	+	2	1031	c.150_splice	c.e2+1	p.A50_splice		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	50					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CCTGTTCATGCGGTAAGTGGC	0.473000													44	237					0	0	1	0	0
NOP16	51491	broad.mit.edu	37	5	175815524	175815524	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:175815524C>T	ENST00000389158.5	-	1	452	c.17G>A	c.(16-18)gGc>gAc	p.G6D	NOP16_ENST00000509257.1_Missense_Mutation_p.G6D|NOP16_ENST00000510123.1_Missense_Mutation_p.G6D|NOP16_ENST00000507413.1_Missense_Mutation_p.G6D			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	6						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						CCGGGTTTTGCCCTTGGCCTT	0.602000													5	417					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116691783	116691783	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:116691783G>A	ENST00000357780.3	-	3	1105	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCCGCATGGGGGCCCAGTTTC	0.592000													71	291					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77081767	77081767	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:77081767C>T	ENST00000579016.1	+	13	1766	c.1766C>T	c.(1765-1767)cCg>cTg	p.P589L		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	589						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TCACGGCCGCCGGGTAGTCGG	0.647000													41	184					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37622620	37622620	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:37622620C>T	ENST00000434837.2	-	5	1846	c.668G>A	c.(667-669)gGc>gAc	p.G223D	MDGA1_ENST00000505425.1_Missense_Mutation_p.G223D|MDGA1_ENST00000297153.7_Missense_Mutation_p.G223D	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	223	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.G223D(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTCTGGGATGCCGCACACGTT	0.597000													7	603					0	0	1	0	0
CYP2D7P1	0	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr22:42538870A>C	ENST00000433992.1	-	0	475				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA																endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													5	94					0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172744926	172744926	+	Missense_Mutation	SNP	C	C	T	rs145310530		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:172744926C>T	ENST00000265087.4	-	4	2142	c.833G>A	c.(832-834)gGc>gAc	p.G278D		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	278					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGCCCCAAGGCCCCCGACTCT	0.612000													89	393					0	0	1	0	0
NNAT	4826	broad.mit.edu	37	20	36149750	36149750	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:36149750C>G	ENST00000062104.2	+	1	134	c.17C>G	c.(16-18)gCg>gGg	p.A6G	BLCAP_ENST00000373537.2_Intron|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000397135.1_Intron|BLCAP_ENST00000414542.2_5'UTR|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000397131.1_Intron|NNAT_ENST00000346199.2_Missense_Mutation_p.A6G	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin	6					brain development|protein lipoylation|transport					endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				GCAGTGGCGGCGGCCTCGGCT	0.627000													26	1001					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189929337	189929337	+	Silent	SNP	T	T	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:189929337T>C	ENST00000374866.3	-	25	1936	c.1662A>G	c.(1660-1662)aaA>aaG	p.K554K		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	554					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTGGCTTCCTTTGGGTCCTG	0.507000													32	227					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1																						CTGGGATGTACGTCTGCGTTG	0.488000													4	195					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857652	124857652	+	Silent	SNP	G	G	A	rs111966038		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:124857652G>A	ENST00000529051.1	+	8	1789	c.1530G>A	c.(1528-1530)ttG>ttA	p.L510L	CCDC15_ENST00000344762.5_Silent_p.L510L			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	510						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGAATTTTTTGTCTAGAGACC	0.388000													7	564					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411874	43411874	+	Missense_Mutation	SNP	G	G	A	rs142652144	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:43411874G>A	ENST00000187910.2	-	4	904	c.839C>T	c.(838-840)cCg>cTg	p.P280L	PSG6_ENST00000292125.2_Missense_Mutation_p.P280L|PSG6_ENST00000402603.4_Intron	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CGGACTGACCGGGAGGCTCTG	0.478000													203	881					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39538355	39538355	+	Silent	SNP	A	A	G	rs111441823	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:39538355A>G	ENST00000394001.1	-	1	300	c.270T>C	c.(268-270)tgT>tgC	p.C90C		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	90	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGGAGCCCTCACAGAACCAGT	0.642000													11	553					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93709084	93709084	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:93709084G>A	ENST00000334746.5	-	11	3241	c.2934C>T	c.(2932-2934)taC>taT	p.Y978Y	BTBD7_ENST00000554565.1_Silent_p.Y627Y|BTBD7_ENST00000393170.2_Silent_p.Y552Y	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	978										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TATTGTGGCTGTACAGATCGG	0.483000													5	416					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65032559	65032559	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:65032559C>T	ENST00000394156.3	-	4	882	c.429G>A	c.(427-429)tcG>tcA	p.S143S	CDH11_ENST00000268603.4_Silent_p.S143S|CDH11_ENST00000566827.1_Silent_p.S17S			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	143	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAATGAATTCCGACGGTGGCT	0.557000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			48	198					0	0	1	0	0
TPM1	7168	broad.mit.edu	37	15	63353068	63353068	+	Splice_Site	SNP	G	G	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:63353068G>T	ENST00000357980.4	+	6	698	c.618_splice	c.e6-1	p.V207_splice	TPM1_ENST00000288398.6_Splice_Site_p.V165_splice|TPM1_ENST00000560959.1_Splice_Site_p.V129_splice|TPM1_ENST00000317516.7_Splice_Site_p.V129_splice|TPM1_ENST00000358278.3_Splice_Site_p.V165_splice|TPM1_ENST00000334895.5_Splice_Site_p.V129_splice|TPM1_ENST00000559556.1_Splice_Site_p.V165_splice|TPM1_ENST00000559397.1_Splice_Site_p.V165_splice|TPM1_ENST00000267996.7_Splice_Site_p.V165_splice|TPM1_ENST00000404484.4_Splice_Site_p.V129_splice|TPM1_ENST00000559281.1_Splice_Site_p.V129_splice|TPM1_ENST00000403994.3_Splice_Site_p.V165_splice|TPM1_ENST00000560445.1_Intron			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	165					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						CCTGCTGCAGGTGGCCCGTAA	0.592000													43	193					6.31075e-24	6.69516e-24	1	1	0
ATP7A	538	broad.mit.edu	37	X	77244909	77244909	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:77244909A>T	ENST00000341514.6	+	4	946	c.791A>T	c.(790-792)gAa>gTa	p.E264V	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E264V	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	264					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAATCCTCAGAAGGGTCACAG	0.403000													85	162					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	61					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647000													4	144					0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	A	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:56171880A>C	ENST00000450554.2	+	4	1189		c.e4-1		U2AF2_ENST00000308924.4_Splice_Site	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637000													6	51					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148599357	148599357	+	Nonsense_Mutation	SNP	C	C	T	rs141357361	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:148599357C>T	ENST00000296046.3	+	7	677	c.625C>T	c.(625-627)Cga>Tga	p.R209*	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	209					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.R209R(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACTCTTGGACCGAATGAATTT	0.343000													27	169					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096643	41096643	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:41096643C>T	ENST00000291842.5	+	17	1825	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	SHKBP1_ENST00000600733.1_Silent_p.G567G	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	592						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCAGGTGGCCTGACGGAGC	0.662000													68	343					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852400	97852400	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:97852400C>T	ENST00000354565.2	+	1	859	c.859C>T	c.(859-861)Cct>Tct	p.P287S	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TTTGTTAAATCCTATCATCTA	0.363000													45	230					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467178	56467178	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:56467178G>A	ENST00000291971.3	+	3	1825	c.1754G>A	c.(1753-1755)aGg>aAg	p.R585K	NLRP8_ENST00000590542.1_Missense_Mutation_p.R585K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	585						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGTAATAAGAGGAAACTGCTG	0.498000													26	129					0	0	1	0	0
HERC2P3	0	broad.mit.edu	37	15	20588534	20588534	+	RNA	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:20588534G>A	ENST00000428453.1	-	0	4216																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCTTTGAGAGTTTGCTCACC	0.498000													6	116					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118343199	118343199	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:118343199G>A	ENST00000534358.1	+	3	1348	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q	KMT2A_ENST00000354520.4_Missense_Mutation_p.R442Q|KMT2A_ENST00000389506.5_Missense_Mutation_p.R442Q	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AAAATTGCCCGATTAGAGTCT	0.463000													114	443					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880338	26880338	+	RNA	SNP	G	G	C	rs3118888	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1																						GCTGAAACATGGAAGGTAAAA	0.483000													4	76					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24846473	24846473	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:24846473G>A	ENST00000313367.2	-	21	2817	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	OSBPL3_ENST00000352860.1_Missense_Mutation_p.A758V|OSBPL3_ENST00000409069.1_Missense_Mutation_p.A722V|OSBPL3_ENST00000396431.1_Missense_Mutation_p.A758V|OSBPL3_ENST00000353930.1_Missense_Mutation_p.A753V|OSBPL3_ENST00000396429.1_Missense_Mutation_p.A753V|OSBPL3_ENST00000431825.2_Missense_Mutation_p.A722V|OSBPL3_ENST00000487020.1_Intron	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	789					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TAATTCCAGCGCAAACTGTGT	0.373000													5	340					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:32725559C>T	ENST00000435145.2	-	4	809	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000													4	52					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39451349	39451349	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr13:39451349C>A	ENST00000280481.7	+	21	8856	c.8640C>A	c.(8638-8640)ttC>ttA	p.F2880L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2880					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)		CCATGGGATTCGGGCAAGAGA	0.438000													5	855					0.217242	0.217242	1	1	0
KRT72	140807	broad.mit.edu	37	12	52994910	52994910	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:52994910C>T	ENST00000293745.2	-	1	412	c.327G>A	c.(325-327)ccG>ccA	p.P109P	KRT72_ENST00000354310.4_Silent_p.P109P|KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000537672.2_Silent_p.P109P	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	109	Head.					keratin filament	structural molecule activity	p.P109P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCACGTTGAGCGGGGCCAGGA	0.667000													6	243					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7682262	7682262	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:7682262G>A	ENST00000446248.2	+	17	3445	c.3344G>A	c.(3343-3345)cGc>cAc	p.R1115H	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.R1088H	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1088	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCTGGAAGCCGCGAACGGGAC	0.637000													54	248					0	0	1	0	0
ESRRA	2101	broad.mit.edu	37	11	64082689	64082689	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:64082689G>A	ENST00000405666.1	+	6	1193	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	ESRRA_ENST00000406310.1_Missense_Mutation_p.R319Q|ESRRA_ENST00000000442.6_Missense_Mutation_p.R320Q			P11474	ERR1_HUMAN	estrogen-related receptor alpha	320	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CAGGCCCTGCGGCTGGAGCGA	0.627000													43	137					0	0	1	0	0
SNRPE	6635	broad.mit.edu	37	1	203832833	203832833	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:203832833C>T	ENST00000414487.2	+	3	169	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_Missense_Mutation_p.R2W	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	42					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	p.R42W(1)		breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGTGAATATGCGGATAGAAGG	0.433000													5	540					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97858456	97858456	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:97858456G>T	ENST00000447648.2	-	16	2604	c.2305C>A	c.(2305-2307)Cac>Aac	p.H769N	TECPR1_ENST00000542604.1_Missense_Mutation_p.H699N|TECPR1_ENST00000379795.3_Missense_Mutation_p.H770N			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	769						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCCGCAGGTGGCCTCCCATC	0.642000													5	24					0.00116845	0.00119124	1	1	0
FOXI1	2299	broad.mit.edu	37	5	169533243	169533243	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:169533243G>A	ENST00000449804.2	+	1	327	c.282G>A	c.(280-282)ccG>ccA	p.P94P	FOXI1_ENST00000306268.6_Silent_p.P94P	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	94	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCAGAGGCCGCTGCTGCCCA	0.697000									Pendred syndrome				6	33					0	0	1	0	0
PRSS27	83886	broad.mit.edu	37	16	2763623	2763623	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:2763623G>A	ENST00000302641.3	-	5	639	c.585C>T	c.(583-585)taC>taT	p.Y195Y		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	195	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						TGTCTTTGCTGTAGAGCAGGT	0.587000													5	358					0	0	1	0	0
KIFC3	3801	broad.mit.edu	37	16	57803635	57803635	+	Missense_Mutation	SNP	C	C	T	rs146824728	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:57803635C>T	ENST00000379655.4	-	9	1347	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I	KIFC3_ENST00000543930.1_Missense_Mutation_p.V225I|KIFC3_ENST00000540079.2_Missense_Mutation_p.V262I|KIFC3_ENST00000562903.1_Missense_Mutation_p.V225I|KIFC3_ENST00000421376.2_Missense_Mutation_p.V225I|KIFC3_ENST00000445690.2_Missense_Mutation_p.V364I|KIFC3_ENST00000541240.1_Missense_Mutation_p.V386I|KIFC3_ENST00000539578.1_Missense_Mutation_p.V306I|KIFC3_ENST00000465878.2_Missense_Mutation_p.V225I	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	364					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TTGGTCCGGACGCCTATGGGG	0.667000													29	126					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17352929	17352929	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:17352929G>A	ENST00000261381.6	-	3	913	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	277					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCTCCTGGCGGCAGTGCTTG	0.607000													63	282					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													10	328					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39643660	39643660	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:39643660G>A	ENST00000393986.2	-	6	992	c.780C>T	c.(778-780)atC>atT	p.I260I	KRT36_ENST00000328119.6_Silent_p.I310I			O76013	KRT36_HUMAN	keratin 36	310	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GTCTCAGCTCGATGATCTCCG	0.627000													18	93					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42143799	42143799	+	Splice_Site	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:42143799G>A	ENST00000444063.1	+	2	515	c.383_splice	c.e2+1	p.R128_splice	L3MBTL1_ENST00000373134.1_Splice_Site_p.R128_splice|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000418998.1_Splice_Site_p.R196_splice|L3MBTL1_ENST00000427442.2_Splice_Site_p.R196_splice|L3MBTL1_ENST00000373135.3_Splice_Site_p.R128_splice			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	128					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTCCAGGAGCGGTAAGGGGAG	0.622000													15	369					0	0	1	0	0
DGAT1	8694	broad.mit.edu	37	8	145541605	145541605	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:145541605C>T	ENST00000332324.4	-	9	1100	c.827G>A	c.(826-828)cGc>cAc	p.R276H	DGAT1_ENST00000531896.1_Silent_p.A306A	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	276					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CAGCAGAAAGCGCTTCCGGAT	0.622000													7	156					0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63680166	63680166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:63680166G>A	ENST00000301459.4	-	10	1396	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	337	SANT 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GCCAAAAGCTGCTCATCTGTG	0.532000													189	542					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466769	179466769	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:179466769G>A	ENST00000589042.1	-	284	55453	c.55229C>T	c.(55228-55230)tCa>tTa	p.S18410L	TTN_ENST00000460472.2_Missense_Mutation_p.S9345L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S9537L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S9470L|TTN_ENST00000342992.6_Missense_Mutation_p.S15842L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S16769L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16769	Fibronectin type-III 33.						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)			TTCCCAAGATGATTTTGGTGT	0.403000													67	284					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40981607	40981607	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:40981607G>A	ENST00000313164.9	+	18	2823	c.2464G>A	c.(2464-2466)Gct>Act	p.A822T		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	822	Complement control factor I module 2.			GA -> AL (in Ref. 3).	complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TGAGGCGGGCGCTCTGAGATG	0.567000													20	81					0	0	1	0	0
CTD-2620I22.1	0	broad.mit.edu	37	19	53474074	53474074	+	RNA	SNP	G	G	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:53474074G>T	ENST00000600068.1	-	0	291				ZNF702P_ENST00000270443.4_RNA																							GAACTTCCTTGTCATGCATTT	0.373000													5	169					0.014758	0.0149006	1	1	0
ARMC7	79637	broad.mit.edu	37	17	73124988	73124988	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:73124988C>T	ENST00000245543.1	+	3	754	c.452C>T	c.(451-453)tCg>tTg	p.S151L	ARMC7_ENST00000581078.1_3'UTR|ARMC7_ENST00000579096.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	151							binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			TTCTCCCTCTCGGCCAGCGCC	0.701000													26	86					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:111630550G>A	ENST00000369680.4	-	18	1754	c.1506C>T	c.(1504-1506)tgC>tgT	p.C502C	XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000322238.8_Silent_p.C521C|XPNPEP1_ENST00000502935.1_Silent_p.C545C	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	502					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498000													6	432					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78085870	78085870	+	Silent	SNP	C	C	T	rs112517802		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:78085870C>T	ENST00000302262.3	+	12	1944	c.1725C>T	c.(1723-1725)taC>taT	p.Y575Y	GAA_ENST00000390015.3_Silent_p.Y575Y	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	575			Y -> S (in GSD2; juvenile form).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ACAACCTCTACGGCCTGACCG	0.657000													67	278					0	0	1	0	0
INSM1	3642	broad.mit.edu	37	20	20350394	20350394	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:20350394G>A	ENST00000310227.1	+	1	1630	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	495					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CCACCCATCCGAAAACAGACA	0.672000													27	156					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450522	107450522	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:107450522G>A	ENST00000409382.3	-	3	1634	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R342C|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R342C	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	342					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R342C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTAATGATGCGTATGGTGGTT	0.393000													48	250					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													4	174					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82876174	82876174	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:82876174C>T	ENST00000265077.3	+	15	10677	c.10112C>T	c.(10111-10113)tCa>tTa	p.S3371L	VCAN_ENST00000343200.5_Missense_Mutation_p.S2384L|VCAN_ENST00000502527.2_Missense_Mutation_p.S630L|VCAN_ENST00000512590.2_Missense_Mutation_p.S1569L|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.S1617L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3371					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAAATTCCTCATCAGCAAAG	0.393000													41	149					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34923991	34923991	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:34923991C>T	ENST00000356577.4	+	3	2929	c.2454C>T	c.(2452-2454)acC>acT	p.T818T	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.T818T|SON_ENST00000381679.4_Silent_p.T818T|SON_ENST00000300278.4_Silent_p.T818T	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	818	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTTAGCAACCAGCTCCATGG	0.507000													8	821					0	0	1	0	0
LTB4R	1241	broad.mit.edu	37	14	24785074	24785074	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:24785074T>C	ENST00000396789.4	+	2	1942	c.217T>C	c.(217-219)Ttt>Ctt	p.F73L	LTB4R_ENST00000396782.2_Missense_Mutation_p.F73L|LTB4R_ENST00000345363.3_Missense_Mutation_p.F73L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	73					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CACTGCTCCCTTTTTCCTTCA	0.582000													5	553					0	0	1	0	0
RPLP0P2	0	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2																						ctgctgctgctgcAGCCCCAG	0.552000													4	127					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								5	183					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46780946	46780946	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:46780946G>A	ENST00000529230.1	-	34	4487	c.4441C>T	c.(4441-4443)Cgc>Tgc	p.R1481C	CKAP5_ENST00000312055.5_Missense_Mutation_p.R1481C|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1481C|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1481C			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1481					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AATTCTCGGCGGACCATCTGG	0.483000													5	284					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	803531	803531	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:803531G>A	ENST00000347755.5	-	3	493	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S	PIDD_ENST00000411829.2_Missense_Mutation_p.P118S|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	118					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										AGACCAGCGGGCAGGTTGGTC	0.687000													4	130					0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241827790	241827790	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:241827790G>A	ENST00000307486.8	-	4	821	c.723C>T	c.(721-723)tcC>tcT	p.S241S	C2orf54_ENST00000402775.2_Silent_p.S222S|C2orf54_ENST00000388934.4_Silent_p.S390S			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	390										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCTTGAGCCCGGAGCCGATGC	0.721000													9	28					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130718462	130718462	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:130718462C>G	ENST00000510168.1	+	27	3138	c.2588C>G	c.(2587-2589)cCg>cGg	p.P863R	ATP2C1_ENST00000508532.1_Missense_Mutation_p.P863R|ATP2C1_ENST00000507488.2_Missense_Mutation_p.P847R|ATP2C1_ENST00000505330.1_Missense_Mutation_p.P847R|ATP2C1_ENST00000504948.1_Missense_Mutation_p.P847R|ATP2C1_ENST00000504381.1_Missense_Mutation_p.P808R|ATP2C1_ENST00000533801.2_Missense_Mutation_p.P858R|ATP2C1_ENST00000428331.2_Missense_Mutation_p.P863R|ATP2C1_ENST00000513801.1_Missense_Mutation_p.P847R|ATP2C1_ENST00000393221.4_Missense_Mutation_p.P897R|ATP2C1_ENST00000422190.2_Missense_Mutation_p.P863R|ATP2C1_ENST00000359644.3_Missense_Mutation_p.P863R|ATP2C1_ENST00000328560.8_Missense_Mutation_p.P863R			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	863					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TACTTTCCTCCGCTTCAGAAG	0.343000									Hailey-Hailey disease				31	151					0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43395374	43395374	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:43395374G>A	ENST00000426263.3	-	6	935	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	253					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TTCTTCTCCCGCATCATCTGC	0.627000													5	634					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958879	53958879	+	RNA	SNP	A	A	G	rs147132093		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:53958879A>G	ENST00000454407.1	+	0	1571							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACATGCCATCATAGACTTCAT	0.428000													7	589					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676607	100676607	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:100676607G>A	ENST00000306151.4	+	3	1974	c.1910G>A	c.(1909-1911)aGc>aAc	p.S637N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	637	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					ATGTCTGTCAGCACCACACTG	0.468000													7	1498					0	0	1	0	0
GNPTG	84572	broad.mit.edu	37	16	1412884	1412884	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:1412884G>A	ENST00000204679.4	+	10	843	c.800G>A	c.(799-801)gGc>gAc	p.G267D		NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	267						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				ACCCAGCACGGCATCCCCTAC	0.567000													5	361					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	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			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						CTACCCCTAAAGGGACTGCTC	0.582000													11	542					0	0	1	0	0
PCDHA5	0	broad.mit.edu	37	5	140201497	140201497	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:140201497G>A	ENST00000529859.1	+	1	137	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R46H|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R46H|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1												p.R46H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTTGGCCGCATCGCGCAG	0.657000													7	378					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113266105	113266105	+	Splice_Site	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:113266105G>A	ENST00000389385.4	+	3	479		c.e3-1		RPH3A_ENST00000543106.2_Splice_Site|RPH3A_ENST00000415485.3_Splice_Site|RPH3A_ENST00000447659.2_Splice_Site|RPH3A_ENST00000551052.1_Splice_Site|RPH3A_ENST00000548866.1_Splice_Site	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)						intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ATGTTTTCCAGGAGCACTAGA	0.488000													6	226					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22562677	22562677	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:22562677G>C	ENST00000419308.2	-	2	1387	c.1185C>G	c.(1183-1185)caC>caG	p.H395Q	FOXA2_ENST00000377115.4_Missense_Mutation_p.H395Q|FOXA2_ENST00000319993.4_Missense_Mutation_p.H401Q	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	395	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGTGGGGTtggtggtggtggt	0.612000													4	283					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21074742	21074742	+	Silent	SNP	G	G	A	rs139156783	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:21074742G>A	ENST00000377122.4	-	28	3375	c.2979C>T	c.(2977-2979)taC>taT	p.Y993Y	NEBL_ENST00000377159.4_Silent_p.Y215Y|NEBL_ENST00000417816.2_Silent_p.Y249Y	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	993	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCACTGTGCCGTACATCCAGC	0.468000													4	187					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													8	389					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67273270	67273270	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:67273270C>T	ENST00000258201.4	-	2	536	c.289G>A	c.(289-291)Ggc>Agc	p.G97S	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	97	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCATAGAAGCCCTCCAGCATC	0.582000													37	233					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	868430	868430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:868430C>T	ENST00000312090.6	-	16	2676	c.2526G>A	c.(2524-2526)tgG>tgA	p.W842*	MED16_ENST00000325464.1_Nonsense_Mutation_p.W823*|MED16_ENST00000269814.4_3'UTR|MED16_ENST00000589119.1_Nonsense_Mutation_p.W823*|MED16_ENST00000395808.3_Nonsense_Mutation_p.W823*			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	823					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		AGTTCTTGATCCAGCGCTGCT	0.667000													10	120					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								12	242					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016362	27016362	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:27016362G>A	ENST00000318627.2	+	1	735	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	97						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						TGCTGGGCGCGTGCTGGAGGG	0.657000													26	113					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86504131	86504131	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:86504131A>C	ENST00000297814.2	-	7	1990	c.1847T>G	c.(1846-1848)aTa>aGa	p.I616R	KIF27_ENST00000376347.1_Missense_Mutation_p.I7R|KIF27_ENST00000413982.1_Missense_Mutation_p.I616R|KIF27_ENST00000334204.2_Missense_Mutation_p.I616R	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	616					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCAGCAAATATTCGATCCAG	0.403000													29	533					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642000													5	288					0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25384178	25384178	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:25384178G>A	ENST00000405623.1	-	3	1031	c.576C>T	c.(574-576)gaC>gaT	p.D192D	POMC_ENST00000395826.2_Silent_p.D192D|POMC_ENST00000380794.1_Silent_p.D192D|POMC_ENST00000264708.3_Silent_p.D192D			P01189	COLI_HUMAN	proopiomelanocortin	192					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CGGCAGGGCCGTCGGGGCCAT	0.697000													15	56					0	0	1	0	0
COL6A2	0	broad.mit.edu	37	21	47552344	47552344	+	Missense_Mutation	SNP	G	G	A	rs140020002		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:47552344G>A	ENST00000300527.4	+	28	3042	c.2938G>A	c.(2938-2940)Gtg>Atg	p.V980M		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	980	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGCAGCGACGTGGACATGGA	0.662000													33	96					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47324917	47324917	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:47324917C>T	ENST00000396220.1	-	6	686	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	PREX1_ENST00000371941.3_Missense_Mutation_p.A222T			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	222	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCTGGACCGCGGGGTGGTCT	0.582000													139	832					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225651759	225651759	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:225651759G>A	ENST00000409592.3	-	50	5730	c.5617C>T	c.(5617-5619)Cgt>Tgt	p.R1873C	DOCK10_ENST00000258390.7_Missense_Mutation_p.R1879C			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1879	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AATGCCACACGATAGTAGCGA	0.433000													54	268					0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123539785	123539785	+	Silent	SNP	A	A	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:123539785A>G	ENST00000334268.4	-	40	2444	c.2127T>C	c.(2125-2127)ggT>ggC	p.G709G	TRDN_ENST00000398178.3_Silent_p.G717G			Q13061	TRDN_HUMAN	triadin	717					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AATTTGCTTGACCAGAGCTCT	0.438000													14	74					0	0	1	0	0
NKX2-8	26257	broad.mit.edu	37	14	37050517	37050517	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:37050517G>A	ENST00000258829.5	-	2	527	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	104					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		CGCTGCTGCCGGAAGCGCCGC	0.662000													3	40					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7369754	7369754	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:7369754G>A	ENST00000311403.4	-	3	706	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	ZBTB4_ENST00000380599.4_Missense_Mutation_p.P123S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	123	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGGACCCGGGGTGGGGAAGAA	0.592000													5	59					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156639754	156639754	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:156639754G>T	ENST00000368223.3	-	4	4358	c.4226C>A	c.(4225-4227)tCc>tAc	p.S1409Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1409	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAACCCATCGGACTCCCCATC	0.647000													9	141					2.17888e-05	2.2656e-05	1	1	0
ZNF728	388523	broad.mit.edu	37	19	23159750	23159750	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:23159750T>C	ENST00000594710.1	-	4	534	c.389A>G	c.(388-390)tAt>tGt	p.Y130C		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		AAGCTTATTATAACCTTTTTT	0.303000													17	79					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95677190	95677190	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:95677190G>A	ENST00000298912.4	-	7	748	c.635C>T	c.(634-636)gCg>gTg	p.A212V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	212	Actin-binding.|CH 2.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCAACTGCCCGCAAAGTCCTG	0.567000													6	585					0	0	1	0	0
KIF25	0	broad.mit.edu	37	6	168430272	168430272	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:168430272T>A	ENST00000443060.2	+	3	398	c.7T>A	c.(7-9)Tgg>Agg	p.W3R	KIF25_ENST00000354419.2_Missense_Mutation_p.W3R|KIF25_ENST00000351261.3_Missense_Mutation_p.W3R			Q9UIL4	KIF25_HUMAN	kinesin family member 25	3	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.W3R(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCAGATGACATGGACCTCAGG	0.612000													5	588					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510885	48510885	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:48510885C>A	ENST00000446524.1	+	1	617	c.541C>A	c.(541-543)Ccc>Acc	p.P181T		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181A(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGACATGTATCCCTTATTGAA	0.443000													23	495					5.35356e-11	5.62258e-11	1	1	0
ELAVL2	1993	broad.mit.edu	37	9	23692693	23692693	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:23692693A>C	ENST00000397312.2	-	7	1216	c.942T>G	c.(940-942)aaT>aaG	p.N314K	ELAVL2_ENST00000380117.1_Missense_Mutation_p.N314K|ELAVL2_ENST00000223951.6_Missense_Mutation_p.N301K|ELAVL2_ENST00000544538.1_Missense_Mutation_p.N314K|ELAVL2_ENST00000380110.4_Missense_Mutation_p.N344K	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	314	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			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)		CTTTGCATTTATTGGTGTTAA	0.473000													16	372					0	0	1	0	0
SERINC1	57515	broad.mit.edu	37	6	122773086	122773086	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:122773086T>C	ENST00000368454.1	-	8	1035	c.706A>G	c.(706-708)Aac>Gac	p.N236D	SERINC1_ENST00000339697.3_Missense_Mutation_p.N236D			Q9NRX5	SERC1_HUMAN	serine incorporator 1	236					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AGGAGCATGTTGACACTGATG	0.393000													44	156					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81942078	81942078	+	Nonsense_Mutation	SNP	A	A	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:81942078A>T	ENST00000359376.3	+	17	1829	c.1615A>T	c.(1615-1617)Aag>Tag	p.K539*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	539	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAAGGTGGAGAAGAGGACGAG	0.547000													33	144					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418776	55418776	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:55418776A>C	ENST00000312422.2	+	1	397	c.397A>C	c.(397-399)Atc>Ctc	p.I133L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTATATGACCATCATGAACCG	0.428000													38	682					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64034909	64034909	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:64034909C>T	ENST00000540288.1	+	31	3689	c.3586C>T	c.(3586-3588)Ccg>Tcg	p.P1196S	PLCB3_ENST00000325234.5_Missense_Mutation_p.P1129S|PLCB3_ENST00000279230.6_Missense_Mutation_p.P1196S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1196					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GGGCGAGATGCCGGAGGGGCT	0.721000													3	17					0	0	1	0	0
TRAV17	0	broad.mit.edu	37	14	22466392	22466392	+	RNA	SNP	T	T	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:22466392T>G	ENST00000390445.2	+	0	469																											TGCTTCTTACTTCTGTGCTAC	0.498000													27	83					0	0	1	0	0
MAP3K7CL	56911	broad.mit.edu	37	21	30532269	30532269	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:30532269C>T	ENST00000399935.2	+	9	807	c.140C>T	c.(139-141)cCg>cTg	p.P47L	MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.P41L|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.P147L|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399947.2_Missense_Mutation_p.P147L|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.P47L					MAP3K7 C-terminal like																		AAGCCCCTGCCGCCTTGTCAT	0.428000													44	227					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240661	39240661	+	Missense_Mutation	SNP	C	C	G	rs11650484	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:39240661C>G	ENST00000391417.4	+	1	203	c.203C>G	c.(202-204)aCc>aGc	p.T68S		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGTCGCCCCACCTGCTGTGAG	0.657000													4	201					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113322044	113322044	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:113322044C>T	ENST00000263331.5	+	10	2294	c.1714C>T	c.(1714-1716)Cca>Tca	p.P572S	POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000417433.2_Missense_Mutation_p.P516S|POLR1B_ENST00000541869.1_Missense_Mutation_p.P610S|POLR1B_ENST00000537335.1_Missense_Mutation_p.P361S	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	572					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGATCTTGCTCCAGGCATCGC	0.498000													71	359					0	0	1	0	0
TRBV3-1	0	broad.mit.edu	37	7	142008771	142008771	+	RNA	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:142008771C>T	ENST00000390387.3	+	0	291																											AGTTCCAAATCGCTTCTCACC	0.373000													47	312					0	0	1	0	0
TRBJ2-2P	0	broad.mit.edu	37	7	142494400	142494400	+	RNA	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:142494400G>A	ENST00000390414.1	+	0	20																											GCTGCTGGGCGTCTGGGCGGA	0.687000													13	29					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													4	176					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39775725	39775725	+	Splice_Site	SNP	A	A	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:39775725A>T	ENST00000518237.1	+	3	941	c.303_splice	c.e3+1	p.K101_splice	IDO1_ENST00000522495.1_Splice_Site_p.K101_splice|RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	101					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GATGTCCGTAAGGTTTGGAGA	0.398000													62	196					0	0	1	0	0
TRAV38-2DV8	0	broad.mit.edu	37	14	22749631	22749631	+	RNA	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:22749631G>A	ENST00000390465.2	+	0	395																											TTATAGGAGCGCACAGTGAGA	0.488000													14	73					0	0	1	0	0
IFT46	56912	broad.mit.edu	37	11	118416522	118416522	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:118416522A>G	ENST00000264020.2	-	11	1249	c.872T>C	c.(871-873)aTt>aCt	p.I291T	IFT46_ENST00000264021.3_Missense_Mutation_p.I240T|TMEM25_ENST00000442938.2_Intron|IFT46_ENST00000530872.1_Missense_Mutation_p.I291T|TMEM25_ENST00000354284.4_Intron	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	240					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						GATCATGTCAATGTACTCTGC	0.507000													54	300					0	0	1	0	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								27	131					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145162490	145162490	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:145162490G>A	ENST00000558170.2	-	5	1689	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	ZEB2_ENST00000539609.3_Missense_Mutation_p.R145C|ZEB2_ENST00000409487.3_Missense_Mutation_p.R169C|ZEB2_ENST00000303660.4_Missense_Mutation_p.R169C	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	169						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGTCACTGCGCTGAAGGTAC	0.493000													22	123					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141622724	141622724	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:141622724G>A	ENST00000442267.2	-	2	249	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	59						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGAGCGACCCGGGCGCTGGAG	0.517000													28	125					0	0	1	0	0
TRIM51HP	0	broad.mit.edu	37	11	55065705	55065705	+	RNA	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:55065705G>A	ENST00000526016.1	-	0	3					NR_038174.2																						GATGGGACAGGTGAGTTCCCT	0.483000													5	284					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31090857	31090857	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:31090857G>A	ENST00000394979.2	+	1	3635	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1071H			O15015	ZN646_HUMAN	zinc finger protein 646	1071					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GTGAACCACCGCAAGATCCAC	0.617000													7	869					0	0	1	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114205	27114205	+	Missense_Mutation	SNP	C	C	T	rs139171375		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:27114205C>T	ENST00000396891.4	-	1	414	c.373G>A	c.(373-375)Gct>Act	p.A125T	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.A125T	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	125					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GTTTACTTAGCGCTGGTGTAC	0.547000													5	397					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284700	130284700	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:130284700G>A	ENST00000257359.6	-	5	1998	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	431				YLTELLDGGHGDCLLDAPAAALPLPTGL -> FSGCHLQGW IHFKYLCKCVSELKCDLMP (in Ref. 3; AAF25806).	negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGCAGGGCCGCAGCAGGGGC	0.652000													34	122					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117844148	117844148	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:117844148C>T	ENST00000350763.4	-	6	2718	c.2307G>A	c.(2305-2307)cgG>cgA	p.R769R	TNC_ENST00000423613.2_Silent_p.R769R|TNC_ENST00000542877.1_Silent_p.R769R|TNC_ENST00000345230.3_Silent_p.R769R|TNC_ENST00000341037.4_Silent_p.R769R|TNC_ENST00000537320.1_Silent_p.R769R|TNC_ENST00000535648.1_Silent_p.R769R|TNC_ENST00000340094.3_Silent_p.R769R|TNC_ENST00000346706.3_Silent_p.R769R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	769	Fibronectin type-III 2.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACCAGTTTGCCGGTAAGAGG	0.522000													5	328					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52392752	52392752	+	Splice_Site	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:52392752C>T	ENST00000420323.2	+	25	4526	c.4266_splice	c.e25+1	p.T1422_splice		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1422	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTACCCCACGGTGAGCCGC	0.672000													18	142					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													9	139					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													8	268					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253929	47253929	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:47253929G>A	ENST00000296861.2	-	2	892	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	167					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGCTTACACCGCACATCCTCA	0.542000													5	431					0	0	1	0	0
PCDHA5	0	broad.mit.edu	37	5	140203117	140203117	+	Missense_Mutation	SNP	C	C	T	rs138704270		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:140203117C>T	ENST00000529859.1	+	1	1757	c.1757C>T	c.(1756-1758)gCg>gTg	p.A586V	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A586V|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A586V|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTGGGTGCGGGCCACGTG	0.682000													5	340					0	0	1	0	0
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													7	679	---	---	---	---					
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:92447228_92447230delAGC	ENST00000370389.2	+	12	2623_2625	c.1699_1701delAGC	c.(1699-1701)del	p.S575del	BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419													8	294	---	---	---	---					
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaa>ga	p.EE493del		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													12	613	---	---	---	---					
OTX1	5013	broad.mit.edu	37	2	63283259	63283261	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:63283259_63283261delCCA	ENST00000366671.3	+	5	1149_1151	c.873_875delCCA	c.(871-876)ggc>gg	p.GH291del	OTX1_ENST00000282549.2_In_Frame_Del_p.GH291del	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	291	His-rich.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGTCCTCAGGccaccaccaccac	0.640													7	355	---	---	---	---					
MARCH7	64844	broad.mit.edu	37	2	160605268	160605268	+	Frame_Shift_Del	DEL	T	T	-	rs1365803	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:160605268delT	ENST00000259050.3	+	5	1589	c.1467delT	c.(1465-1467)ccfs	p.P490fs	MARCH7_ENST00000409591.1_Frame_Shift_Del_p.P452fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.P490fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.P434fs	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	490							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TTGCAGTCCCTCCAGCACTTG	0.428													7	1125	---	---	---	---					
RBM45	129831	broad.mit.edu	37	2	178977303	178977304	+	Frame_Shift_Ins	INS	-	-	G	rs146365140	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:178977303_178977304insG	ENST00000286070.5	+	1	122_123	c.30_31insG	c.(28-33)ggggggfs	p.GG10fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	10					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CTGCGAGCGGCGGGGGCTTCCG	0.644											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	264	---	---	---	---					
ZNF142	7701	broad.mit.edu	37	2	219508084	219508084	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:219508084delC	ENST00000411696.2	-	7	3934	c.3155delG	c.(3154-3156)gafs	p.G1052fs	ZNF142_ENST00000449707.1_Frame_Shift_Del_p.G1052fs			P52746	ZN142_HUMAN	zinc finger protein 142	1052					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G1052fs*20(1)|p.G889fs*20(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCGCCACGTCCCCCCCTGCA	0.607													7	267	---	---	---	---					
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:227660808_227660810delGCT	ENST00000305123.4	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)ccc>c	p.QP882del		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626													9	282	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													12	864	---	---	---	---					
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aagatgfs	p.M75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322													7	221	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gct>g	p.EA158del	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626													8	505	---	---	---	---					
ATOH1	474	broad.mit.edu	37	4	94750654	94750656	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:94750654_94750656delAAG	ENST00000306011.3	+	1	613_615	c.577_579delAAG	c.(577-579)del	p.K194del		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	194	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CAACAACGACAAGAAGCTGTCCA	0.596													13	228	---	---	---	---					
GABBR1	0	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)del	p.L783del	GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAAGATTCCCAGCAGCAGCAGC	0.512													7	272	---	---	---	---					
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)del	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631													8	162	---	---	---	---					
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	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													7	620	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72667747	72667747	+	RNA	DEL	T	T	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:72667747delT	ENST00000425256.1	-	0	633					NR_002164.1																						tttttttttcttttttttttt	0.388													8	72	---	---	---	---					
BRAF	673	broad.mit.edu	37	7	140477831	140477845	+	In_Frame_Del	DEL	GAGGTGTAGGTGCTG	GAGGTGTAGGTGCTG	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:140477831_140477845delGAGGTGTAGGTGCTG	ENST00000288602.6	-	12	1523_1537	c.1463_1477delCAGCACCTACACCTC	c.(1462-1479)aag>a	p.TAPTPQ488del		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	488	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L485_P490>Y(2)|p.N486_P490del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGTAACTGCTGAGGTGTAGGTGCTGTCACATTCAA	0.353		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	196	---	---	---	---					
TRBV7-6	0	broad.mit.edu	37	7	142139683	142139684	+	RNA	INS	-	-	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:142139683_142139684insA	ENST00000390374.3	-	0	94																											cctacacacaGAAAAAAAAATG	0.490													11	334	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)ccfs	p.P341fs	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408													7	674	---	---	---	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1267_splice	c.e12+1	p.L419_splice		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	419	Protein kinase.					integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													6	12	---	---	---	---					
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)del	p.E1039del	KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1039					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463													8	469	---	---	---	---					
NFIL3	4783	broad.mit.edu	37	9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)ggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423													7	838	---	---	---	---					
CRAT	1384	broad.mit.edu	37	9	131864813	131864814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:131864813_131864814insC	ENST00000318080.2	-	5	789_790	c.495_496insG	c.(493-498)ggagccfs	p.A166fs	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	166					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CACAGTGGCTTCCCCCCCAGGT	0.609													8	1246	---	---	---	---					
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:139734633_139734635delAGA	ENST00000371675.3	+	14	2498_2500	c.1613_1615delAGA	c.(1612-1617)gag>g	p.EK538del	RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del					RAB, member RAS oncogene family-like 6																		CCCTCTaaggagaagaagaagaa	0.571													11	254	---	---	---	---					
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)del	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458													12	386	---	---	---	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)del	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													11	677	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14284600	14284600	+	RNA	DEL	A	A	-	rs79477301		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:14284600delA	ENST00000310358.7	+	0	2795				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGACCTGTTTaaaaaaaaaaa	0.463													10	43	---	---	---	---					
UVRAG	7405	broad.mit.edu	37	11	75694430	75694431	+	Splice_Site	INS	-	-	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:75694430_75694431insA	ENST00000356136.3	+	8	940_941		c.e8-1		UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated						DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TATTTATTTAGAAAAAAAAAAG	0.302													7	117	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:89106662_89106663insA	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000542487.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													9	398	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:6711207_6711209delCTT	ENST00000309577.6	-	4	518_520	c.355_357delAAG	c.(355-357)del	p.K119del	CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537													8	182	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)del	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458													7	489	---	---	---	---					
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Translation_Start_Site	DEL	TG	TG	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:124103201_124103202delTG	ENST00000421670.3	+	0	639_640				DDX55_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_Intron|DDX55_ENST00000541259.1_Intron			Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55								ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.520											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	197	---	---	---	---					
TSC22D1	8848	broad.mit.edu	37	13	45148691	45148693	+	In_Frame_Del	DEL	TGT	TGT	-	rs148625973		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr13:45148691_45148693delTGT	ENST00000458659.2	-	1	2008_2010	c.1518_1520delACA	c.(1516-1521)cag>ca	p.QQ508del	TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	508	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGgttgttgctgttgttgttgtt	0.502													9	469	---	---	---	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)acc>ac	p.TL5del	LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	5					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													12	469	---	---	---	---					
OTX2-AS1	0	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344																											CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483													8	51	---	---	---	---					
DDX24	57062	broad.mit.edu	37	14	94517596	94517598	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:94517596_94517598delTCT	ENST00000330836.5	-	9	2650_2652	c.2519_2521delAGA	c.(2518-2523)aca>a	p.KT840del	DDX24_ENST00000555054.1_In_Frame_Del_p.KT797del|DDX24_ENST00000553400.1_5'UTR|DDX24_ENST00000544005.1_In_Frame_Del_p.KT590del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	840	Poly-Lys.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGCTTCTTTGTCTTCTTCTTCTT	0.512											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	322	---	---	---	---					
IGHV3-48	0	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304																											TAGTATATGGTACTACTACTACT	0.502													10	1183	---	---	---	---					
ISG20	3669	broad.mit.edu	37	15	89182651	89182652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:89182651_89182652insC	ENST00000306072.5	+	2	412_413	c.54_55insC	c.(52-57)ggcccafs	p.GP18fs	ISG20_ENST00000560741.1_Frame_Shift_Ins_p.GP18fs|ISG20_ENST00000379224.5_Frame_Shift_Ins_p.GP18fs	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	18					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			TGGGGCTGGGGCCCCACCGGGA	0.639											OREG0023441	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	134	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2819161	2819163	+	In_Frame_Del	DEL	TCT	TCT	-	rs149101693	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:2819161_2819163delTCT	ENST00000301740.8	+	12	8446_8448	c.7897_7899delTCT	c.(7897-7899)del	p.S2648del	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2648	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ctcctcttcctcttcttcttctt	0.581													7	261	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000526464.2_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													28	848	---	---	---	---					
EIF3C	8663	broad.mit.edu	37	16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)del	p.E294del	EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	294	Poly-Glu.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562													8	2635	---	---	---	---					
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327													8	126	---	---	---	---					
MT1JP	0	broad.mit.edu	37	16	56670771	56670772	+	RNA	INS	-	-	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:56670771_56670772insT	ENST00000564564.1	+	0	750_751																											CAGGCTGCTGCTTCTGCTGCCC	0.614													81	433	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)del	p.E708del		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571													10	230	---	---	---	---					
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)agfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393													7	369	---	---	---	---					
BPTF	2186	broad.mit.edu	37	17	65822267	65822269	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:65822267_65822269delGAG	ENST00000321892.4	+	1	488_490	c.427_429delGAG	c.(427-429)del	p.E148del	BPTF_ENST00000424123.3_In_Frame_Del_p.E9del|BPTF_ENST00000335221.5_In_Frame_Del_p.E148del|BPTF_ENST00000306378.6_In_Frame_Del_p.E148del			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	148	Glu-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.E143*(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			catggtctccgaggaggaggagg	0.635													8	63	---	---	---	---					
HDGFRP2	0	broad.mit.edu	37	19	4491823	4491824	+	Frame_Shift_Ins	INS	-	-	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:4491823_4491824insA	ENST00000301284.4	+	6	733_734	c.669_670insA	c.(667-672)cgaaaafs	p.RK223fs	HDGFRP2_ENST00000586684.1_Frame_Shift_Ins_p.RK223fs	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		223	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										TGGGGGGACGGAAAAAAAAGGT	0.634													8	342	---	---	---	---					
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:35940788_35940790delCTG	ENST00000599180.1	+	2	252_254	c.172_174delCTG	c.(172-174)del	p.L62del	FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645													8	166	---	---	---	---					
RP4-777D9.2	0	broad.mit.edu	37	20	21143813	21143814	+	RNA	INS	-	-	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:21143813_21143814insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							AAGCCATTCAATTTTTTTTTTC	0.371													17	324	---	---	---	---					
KCNQ2	3785	broad.mit.edu	37	20	62078155	62078158	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:62078155_62078158delACAG	ENST00000354587.3	-	2	505_508	c.329_332delCTGT	c.(328-333)tgfs	p.SV110fs	KCNQ2_ENST00000359689.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000359125.2_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000357249.2_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000370221.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000430658.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000344462.3_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000360480.3_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000370222.3_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000370224.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000370226.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000344425.5_Frame_Shift_Del_p.SV110fs			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	110					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGTGGAAAACACAGACAGCACGAG	0.632													61	578	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38120323	38120325	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr22:38120323_38120325delCCT	ENST00000406386.3	+	7	2015_2017	c.1760_1762delCCT	c.(1759-1764)gcc>g	p.AS587del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	587					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			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)					AATCCCAGAGCCTCCTCTCCCAA	0.596													9	842	---	---	---	---					
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	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													9	168	---	---	---	---					
ATP2B3	492	broad.mit.edu	37	X	152845611	152845611	+	Frame_Shift_Del	DEL	C	C	-	rs149428057	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:152845611delC	ENST00000263519.4	+	20	3644	c.3518delC	c.(3517-3519)gcfs	p.A1173fs	ATP2B3_ENST00000349466.2_Frame_Shift_Del_p.A1173fs|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1173					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCCTCCGGGCCCCCCCGCCC	0.587													9	382	---	---	---	---					
