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
MED12	9968	broad.mit.edu	37	X	70347271	70347271	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:70347271T>C	ENST00000333646.6	+	21	3134	c.2935T>C	c.(2935-2937)Tac>Cac	p.Y979H	MED12_ENST00000374102.1_Missense_Mutation_p.Y979H|MED12_ENST00000374080.3_Missense_Mutation_p.Y979H	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	979					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.Y979H(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTATGATCTGTACACCTCCTG	0.517000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	112					0	0	0.001984	0	0
GRM7	2917	broad.mit.edu	37	3	7620336	7620336	+	Silent	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:7620336C>A	ENST00000486284.1	+	8	2017	c.1743C>A	c.(1741-1743)atC>atA	p.I581I	GRM7_ENST00000389336.4_Silent_p.I581I|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Silent_p.I581I|GRM7_ENST00000403881.1_Silent_p.I581I|GRM7_ENST00000357716.4_Silent_p.I581I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	581					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.I581I(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ATATTCCCATCATCAAACTGG	0.517000													85	92					7.14593e-30	1.62134e-29	0.003610	1	0
DFNB31	25861	broad.mit.edu	37	9	117165060	117165060	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr9:117165060C>A	ENST00000362057.3	-	12	2866	c.2698G>T	c.(2698-2700)Gtc>Ttc	p.V900F	DFNB31_ENST00000374059.3_Missense_Mutation_p.V549F|DFNB31_ENST00000265134.6_Missense_Mutation_p.V517F	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	900					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		p.V900F(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AACTCAGTGACCAGAAAGTCA	0.592000													38	63					9.80977e-26	2.17101e-25	0.004289	1	0
ALPK2	115701	broad.mit.edu	37	18	56203629	56203629	+	Missense_Mutation	SNP	C	C	A	rs144733035	byFrequency	TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr18:56203629C>A	ENST00000361673.3	-	5	4003	c.3790G>T	c.(3790-3792)Ggt>Tgt	p.G1264C	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1264							ATP binding|protein serine/threonine kinase activity	p.G1264C(1)|p.G625C(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATGAGACCACCGTCTGATGCC	0.498000													48	123					4.00472e-15	8.19147e-15	0.003610	1	0
RGS7	6000	broad.mit.edu	37	1	240975303	240975303	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:240975303C>A	ENST00000366565.1	-	14	1378	c.997G>T	c.(997-999)Ggc>Tgc	p.G333C	RGS7_ENST00000366564.1_Missense_Mutation_p.G333C|RGS7_ENST00000366563.1_Missense_Mutation_p.G333C|RGS7_ENST00000348120.2_Missense_Mutation_p.G280C|RGS7_ENST00000331110.7_Missense_Mutation_p.G307C|RGS7_ENST00000401882.1_Missense_Mutation_p.G280C|RGS7_ENST00000446183.2_Missense_Mutation_p.G249C|RGS7_ENST00000366562.4_Missense_Mutation_p.G333C|RGS7_ENST00000407727.1_Missense_Mutation_p.G333C	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	333	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.G333C(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCGTCCATGCCAAAACCCCAT	0.388000													30	153					3.73148e-12	7.24819e-12	0.007291	1	0
PXDNL	137902	broad.mit.edu	37	8	52323848	52323848	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:52323848C>G	ENST00000356297.4	-	16	2124	c.2024G>C	c.(2023-2025)cGt>cCt	p.R675P	PXDNL_ENST00000543296.1_Missense_Mutation_p.R675P	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	675					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R675P(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGCTTCACACGTTCCCGTAT	0.517000													8	30					0	0	0.003080	0	0
TRPS1	7227	broad.mit.edu	37	8	116426992	116426992	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:116426992C>A	ENST00000395715.3	-	7	3721	c.3144G>T	c.(3142-3144)ttG>ttT	p.L1048F	TRPS1_ENST00000519076.1_Missense_Mutation_p.L789F|TRPS1_ENST00000520276.1_Missense_Mutation_p.L1039F|TRPS1_ENST00000220888.5_Missense_Mutation_p.L1035F	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1035	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L1035F(1)|p.L1048F(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCTGAATGTGCAAAGGTTGCA	0.448000									Langer-Giedion syndrome				127	150					9.50027e-55	2.35328e-54	0.003610	1	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66297387	66297387	+	Silent	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr11:66297387C>A	ENST00000419755.3	+	14	1626	c.1548C>A	c.(1546-1548)tcC>tcA	p.S516S	BBS1_ENST00000318312.7_Silent_p.S479S|BBS1_ENST00000455748.2_Silent_p.S382S|BBS1_ENST00000393994.2_Silent_p.S350S|ZDHHC24_ENST00000526986.1_Intron														p.S479S(1)									GCCCCCTGTCCACGACAGCCC	0.677000													6	19					0.00198382	0.00322669	0.001984	1	0
NFXL1	152518	broad.mit.edu	37	4	47880674	47880674	+	Silent	SNP	T	T	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:47880674T>A	ENST00000507489.1	-	17	2123	c.1947A>T	c.(1945-1947)ccA>ccT	p.P649P	NFXL1_ENST00000329043.3_Silent_p.P649P|NFXL1_ENST00000381538.3_Silent_p.P649P	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	649						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P649P(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GGCATGGTAGTGGACTCACCT	0.368000													25	64					0	0	0.005443	0	0
CCNB1	891	broad.mit.edu	37	5	68473356	68473356	+	Silent	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:68473356C>T	ENST00000256442.5	+	9	1453	c.1200C>T	c.(1198-1200)gtC>gtT	p.V400V		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	400					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		p.V400V(1)		large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TCCAGACTGTCAAGAACAAGT	0.368000													90	160					0	0	0.003610	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740860	140740860	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:140740860G>T	ENST00000522605.1	+	1	1158	c.1158G>T	c.(1156-1158)gtG>gtT	p.V386V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.V386V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCCAAGTGTTGGGAAATG	0.463000													49	86					2.13384e-23	4.64626e-23	0.003610	1	0
KIAA1468	57614	broad.mit.edu	37	18	59919898	59919898	+	Splice_Site	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr18:59919898C>A	ENST00000256858.6	+	12	1983	c.1733_splice	c.e12-1	p.Q579_splice	KIAA1468_ENST00000398130.2_Splice_Site_p.Q579_splice			Q9P260	K1468_HUMAN	KIAA1468	579							binding	p.Q579K(3)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ATTTTTCAGGCAAATGATACT	0.383000													4	46					1.23904e-05	2.11735e-05	0.000602	1	0
ELAVL1	1994	broad.mit.edu	37	19	8028583	8028583	+	Silent	SNP	G	G	A	rs141885519	byFrequency	TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr19:8028583G>A	ENST00000407627.2	-	6	894	c.765C>T	c.(763-765)gcC>gcT	p.A255A	ELAVL1_ENST00000596459.1_Silent_p.A255A|ELAVL1_ENST00000351593.5_Silent_p.A282A|ELAVL1_ENST00000593807.1_3'UTR	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	255	RRM 3.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	p.A255A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCCCCTCGTCGGCATCCTGCC	0.577000													4	79					0	0	0.000248	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843165	22843165	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr22:22843165T>C	ENST00000360412.2	-	4	1334	c.559A>G	c.(559-561)Agg>Ggg	p.R187G	ZNF280B_ENST00000406426.1_Missense_Mutation_p.R187G	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R187G(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGTTTAGCCCTTTTGGGATTT	0.388000													3	140					0	0	0.004672	0	0
GABRA6	2559	broad.mit.edu	37	5	161128527	161128527	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:161128527G>T	ENST00000523217.1	+	9	1322	c.1080G>T	c.(1078-1080)ctG>ctT	p.L360L	GABRA6_ENST00000274545.5_Silent_p.L370L	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	370					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.L370L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AATATCATCTGAAGAAAAGGA	0.383000										TCGA Ovarian(5;0.080)			77	133					1.59627e-33	3.71545e-33	0.003610	1	0
CCDC73	493860	broad.mit.edu	37	11	32676433	32676433	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr11:32676433A>T	ENST00000335185.5	-	10	774	c.731T>A	c.(730-732)aTt>aAt	p.I244N	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	244								p.I244N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTGTTCTTTAATTGTTAGATT	0.259000													5	23					0	0	0.000602	0	0
GAD2	2572	broad.mit.edu	37	10	26513488	26513488	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr10:26513488C>A	ENST00000376261.3	+	6	1135	c.632C>A	c.(631-633)cCa>cAa	p.P211Q	GAD2_ENST00000259271.3_Missense_Mutation_p.P211Q|GAD2_ENST00000376248.1_Missense_Mutation_p.P97Q	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	211					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.P211K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GAAATTGCTCCAGTATTTGTG	0.383000													27	63					7.92952e-12	1.51842e-11	0.003954	1	0
KEAP1	9817	broad.mit.edu	37	19	10602329	10602329	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr19:10602329C>T	ENST00000171111.5	-	3	1796	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	KEAP1_ENST00000393623.2_Missense_Mutation_p.G417R	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G417R(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ACCCCCACCCCGATGCGGTTA	0.667000													7	6					0	0	0.001984	0	0
AWAT2	158835	broad.mit.edu	37	X	69261742	69261742	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:69261742G>T	ENST00000276101.3	-	7	923	c.918C>A	c.(916-918)ctC>ctA	p.L306L		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	306						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	p.L306L(1)		endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						CATCAATATAGAGTGTGTGAT	0.483000													41	90					6.2361e-21	1.31543e-20	0.007835	1	0
UVSSA	57654	broad.mit.edu	37	4	1347164	1347164	+	Silent	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:1347164C>G	ENST00000389851.4	+	5	1344	c.897C>G	c.(895-897)ggC>ggG	p.G299G	UVSSA_ENST00000507531.1_Silent_p.G299G|UVSSA_ENST00000511216.1_Silent_p.G299G	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	299								p.G299G(1)									ACGGGCTGGGCTCGCACAAGT	0.682000													3	10					0	0	0.004672	0	0
TWISTNB	221830	broad.mit.edu	37	7	19748635	19748635	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:19748635G>A	ENST00000222567.5	-	1	75	c.5C>T	c.(4-6)gCt>gTt	p.A2V		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	2						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	p.A2V(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GCAACCTGCAGCCATGCTGCT	0.652000											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	35					0	0	0.001168	0	0
ZMYND15	84225	broad.mit.edu	37	17	4648623	4648623	+	Silent	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr17:4648623C>T	ENST00000433935.1	+	13	2067	c.2010C>T	c.(2008-2010)ccC>ccT	p.P670P	ZMYND15_ENST00000269289.6_Silent_p.P631P|ZMYND15_ENST00000592813.1_Silent_p.P631P|ZMYND15_ENST00000573751.2_Silent_p.P678P	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	631	Pro-rich.						zinc ion binding	p.P670P(1)|p.P631P(1)		endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						AGCCCAACCCCTTCCGCTCCC	0.612000													25	62					0	0	0.005443	0	0
APP	351	broad.mit.edu	37	21	27284177	27284177	+	Silent	SNP	T	T	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr21:27284177T>A	ENST00000358918.3	-	14	1984	c.1785A>T	c.(1783-1785)ccA>ccT	p.P595P	APP_ENST00000359726.3_Silent_p.P539P|APP_ENST00000357903.3_Silent_p.P576P|APP_ENST00000354192.3_Silent_p.P464P|APP_ENST00000348990.5_Silent_p.P520P|APP_ENST00000448388.2_Silent_p.P485P|APP_ENST00000346798.3_Silent_p.P595P|APP_ENST00000440126.3_Silent_p.P571P|APP_ENST00000439274.2_Silent_p.P539P	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	595					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	p.P595P(1)		endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CGGTCAAAGATGGCATGAGAG	0.493000													4	43					0	0	0.001168	0	0
AGPAT2	10555	broad.mit.edu	37	9	139571431	139571431	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr9:139571431C>G	ENST00000371696.2	-	3	539	c.474G>C	c.(472-474)gaG>gaC	p.E158D	AGPAT2_ENST00000538402.1_Missense_Mutation_p.E158D|AGPAT2_ENST00000371694.3_Missense_Mutation_p.E158D	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	158					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.E158D(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TGACCATGCGCTCGCCCAGGT	0.667000													8	90					0	0	0.003080	0	0
KRT7	3855	broad.mit.edu	37	12	52627365	52627365	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:52627365C>G	ENST00000331817.5	+	1	468	c.285C>G	c.(283-285)atC>atG	p.I95M		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	95	Coil 1A.|Interaction with HPV16 E7.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	p.I95M(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GCGAGCAGATCAAGACCCTCA	0.657000													46	65					0	0	0.003610	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28210756	28210756	+	Splice_Site	SNP	A	A	G	rs113268450		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr21:28210756A>G	ENST00000284984.2	-	8	2659		c.e8+1			NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1						integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.?(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTTAAAACTTACTTTGCACTA	0.328000													41	21					0	0	0.007835	0	0
GPR31	2853	broad.mit.edu	37	6	167570422	167570422	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:167570422G>T	ENST00000366834.1	-	1	1395	c.898C>A	c.(898-900)Ctc>Atc	p.L300I		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	300						integral to plasma membrane	G-protein coupled receptor activity	p.L300I(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		TTGCCTCGGAGGGTGTGGAAG	0.592000													20	42					2.39187e-15	4.92981e-15	0.008871	1	0
ST3GAL4	6484	broad.mit.edu	37	11	126276877	126276877	+	Silent	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr11:126276877C>G	ENST00000526727.1	+	3	515	c.141C>G	c.(139-141)ctC>ctG	p.L47L	ST3GAL4_ENST00000356132.4_Silent_p.L47L|ST3GAL4_ENST00000449406.2_Silent_p.L36L|ST3GAL4_ENST00000392669.2_Silent_p.L47L|ST3GAL4_ENST00000444328.2_Silent_p.L47L|ST3GAL4_ENST00000534457.1_Silent_p.L42L|ST3GAL4_ENST00000227495.6_Silent_p.L43L|ST3GAL4_ENST00000532243.1_Silent_p.L46L|ST3GAL4_ENST00000530591.1_Silent_p.L43L|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000534083.1_Silent_p.L47L			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	47					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	p.L43L(1)		endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		AGCCGTGCCTCCAGGGTGAGG	0.542000													21	88					0	0	0.003330	0	0
DDI2	84301	broad.mit.edu	37	1	15956966	15956966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:15956966C>T	ENST00000480945.1	+	3	586	c.415C>T	c.(415-417)Cga>Tga	p.R139*		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	139					proteolysis		aspartic-type endopeptidase activity	p.R139*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGCCTTGCTCCGAGATATGTT	0.557000													4	54					0	0	0.000248	0	0
INHBA	3624	broad.mit.edu	37	7	41729798	41729798	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:41729798C>T	ENST00000242208.4	-	3	977	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.C244Y|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	244					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.C244Y(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCACTGCTCACAGGCAATCCG	0.587000										TSP Lung(11;0.080)			6	50					0	0	0.001984	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874682	144874682	+	Splice_Site	SNP	T	T	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:144874682T>C	ENST00000369359.4	-	33	5372	c.5335_splice	c.e33+1	p.S1778_splice	PDE4DIP_ENST00000530740.1_Splice_Site_p.S1778_splice|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Splice_Site_p.S1598_splice|PDE4DIP_ENST00000369354.3_Splice_Site_p.S1642_splice|PDE4DIP_ENST00000369356.4_Splice_Site_p.S1642_splice			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1642					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.S1642S(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAGGCTACCTGAGTGACTGG	0.498000			T	PDGFRB	MPD								134	363					0	0	0.003610	0	0
CACNA1H	8912	broad.mit.edu	37	16	1250433	1250433	+	Silent	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:1250433C>T	ENST00000348261.5	+	7	1229	c.981C>T	c.(979-981)gcC>gcT	p.A327A	CACNA1H_ENST00000358590.4_Silent_p.A327A|CACNA1H_ENST00000565831.1_Silent_p.A327A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	327					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.A327A(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGCCGCAGGCCGAGGGGGTGG	0.672000													8	24					0	0	0.004482	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170343	32170343	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:32170343G>T	ENST00000375023.3	-	21	3403	c.3265C>A	c.(3265-3267)Cct>Act	p.P1089T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1089	EGF-like 28.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.P1089T(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCGCAGGAAGGGGCCCTGTGG	0.607000													8	16					3.09899e-07	5.4688e-07	0.004482	1	0
TECTA	7007	broad.mit.edu	37	11	121000732	121000732	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr11:121000732C>T	ENST00000392793.1	+	10	3024	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L	TECTA_ENST00000264037.2_Missense_Mutation_p.P918L			O75443	TECTA_HUMAN	tectorin alpha	918	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.P918L(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATCAACGACCCCTCCAACAGC	0.577000													30	50					0	0	0.008361	0	0
B3GAT2	135152	broad.mit.edu	37	6	71665881	71665881	+	Silent	SNP	G	G	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:71665881G>A	ENST00000230053.6	-	1	860	c.252C>T	c.(250-252)gcC>gcT	p.A84A		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	84					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	p.A84A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGGGCGTGATGGCATAGATGG	0.701000													8	35					0	0	0.006214	0	0
APLF	200558	broad.mit.edu	37	2	68772346	68772346	+	Silent	SNP	T	T	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:68772346T>C	ENST00000303795.4	+	8	1359	c.1188T>C	c.(1186-1188)ttT>ttC	p.F396F	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	396					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	p.F396F(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TTCAACATTTTAGCCATCCTG	0.403000													28	82					0	0	0.006320	0	0
WDR65	149465	broad.mit.edu	37	1	43638521	43638521	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:43638521C>G	ENST00000372492.4	+	2	421	c.97C>G	c.(97-99)Cct>Gct	p.P33A	WDR65_ENST00000528956.1_Missense_Mutation_p.P33A	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	33								p.P33A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATTATATTTCCTTCAGGAAA	0.408000													8	47					0	0	0.003080	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319622	21319622	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr17:21319622G>T	ENST00000583088.1	+	3	1863	c.968G>T	c.(967-969)tGg>tTg	p.W323L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.W323L	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.W323L(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GAGATCCTGTGGGGTCACCGC	0.587000										Prostate(3;0.18)			15	196					1.49906e-05	2.54557e-05	0.002450	1	0
MYO16	23026	broad.mit.edu	37	13	109777613	109777613	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr13:109777613C>T	ENST00000356711.2	+	30	3749	c.3623C>T	c.(3622-3624)gCc>gTc	p.A1208V	MYO16_ENST00000357550.2_Missense_Mutation_p.A1208V|MYO16_ENST00000457511.2_Missense_Mutation_p.A720V	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1208					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.A1208V(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCAGACATTGCCCGGGAAAAT	0.473000													3	24					0	0	0.004672	0	0
CHAD	1101	broad.mit.edu	37	17	48545931	48545931	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr17:48545931G>T	ENST00000508540.1	-	1	396	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000506085.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.L82M|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000300441.4_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	82					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.L82M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGTGCTGCAGGTGCAATGAC	0.602000													18	55					1.45105e-14	2.94574e-14	0.006122	1	0
PAWR	5074	broad.mit.edu	37	12	80014945	80014945	+	Missense_Mutation	SNP	G	G	A	rs147882965		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:80014945G>A	ENST00000328827.4	-	3	931	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	187	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	p.R187W(1)		NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TCTCGTTTCCGCTCTTTCTGC	0.363000													30	228					0	0	0.002836	0	0
AMER1	139285	broad.mit.edu	37	X	63411180	63411180	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:63411180C>T	ENST00000330258.3	-	2	2259	c.1987G>A	c.(1987-1989)Gtg>Atg	p.V663M	AMER1_ENST00000403336.1_Missense_Mutation_p.V663M|AMER1_ENST00000374869.3_Missense_Mutation_p.V663M	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.V663M(2)									AGGCCCATCACTGATGGGCCT	0.597000													5	49					0	0	0.000602	0	0
SYCP1	6847	broad.mit.edu	37	1	115455691	115455691	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:115455691C>G	ENST00000369522.3	+	19	1807	c.1567C>G	c.(1567-1569)Ctt>Gtt	p.L523V	SYCP1_ENST00000369518.1_Missense_Mutation_p.L523V	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	523				LTSHCNKLSLENK -> YFTLQQASPPPN (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.L523V(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCAACAAGCTTTCACTAGA	0.299000													28	72					0	0	0.001786	0	0
OR4M1	441670	broad.mit.edu	37	14	20248599	20248599	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr14:20248599C>A	ENST00000315957.4	+	1	199	c.118C>A	c.(118-120)Cca>Aca	p.P40T		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P40T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTCATCCTACCAGGAAATAT	0.428000													126	667					1.5108e-63	3.777e-63	0.003610	1	0
ENTHD2	146705	broad.mit.edu	37	17	79202754	79202754	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr17:79202754A>G	ENST00000374769.2	-	13	1777	c.1300T>C	c.(1300-1302)Tca>Cca	p.S434P	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000300714.3_Missense_Mutation_p.S518P					ENTH domain containing 2									p.S518P(1)									GCGAAAGCTGACGGCTCTGAG	0.647000													9	33					0	0	0.006214	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			13	7					2.68362e-12	5.28889e-12	0.001368	1	0
MUC16	94025	broad.mit.edu	37	19	9068783	9068783	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr19:9068783G>T	ENST00000397910.4	-	3	18866	c.18663C>A	c.(18661-18663)ctC>ctA	p.L6221L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6223	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L6221L(2)|p.L1854L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGAGAAGAGAGAGAGTTGG	0.453000													49	47					8.48111e-28	1.90825e-27	0.003610	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058113	152058113	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:152058113T>C	ENST00000368806.1	-	3	2109	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	682							calcium ion binding	p.D682G(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGAAAGCTGGTCAGTGAAGTC	0.478000													118	229					0	0	0.003610	0	0
KLHL2	11275	broad.mit.edu	37	4	166231753	166231753	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:166231753G>T	ENST00000226725.6	+	10	1347	c.1088G>T	c.(1087-1089)gGc>gTc	p.G363V	KLHL2_ENST00000514860.1_Missense_Mutation_p.G367V|KLHL2_ENST00000506761.1_Missense_Mutation_p.G197V|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Missense_Mutation_p.G266V|KLHL2_ENST00000538127.1_Missense_Mutation_p.G275V	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	363					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	p.G363V(1)		endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GGCTTTAATGGCTCATTAAGA	0.478000													90	346					4.64247e-43	1.12925e-42	0.003610	1	0
KLHL14	57565	broad.mit.edu	37	18	30349722	30349722	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr18:30349722A>T	ENST00000359358.4	-	2	1271	c.833T>A	c.(832-834)gTc>gAc	p.V278D	KLHL14_ENST00000358095.4_Missense_Mutation_p.V278D	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	278	BACK.					cytosol|endoplasmic reticulum membrane		p.V278D(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CACTGACTGGACCCGCTCCAC	0.647000													43	45					0	0	0.003610	0	0
EYA4	2070	broad.mit.edu	37	6	133783899	133783899	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:133783899C>T	ENST00000367895.5	+	9	1185	c.721C>T	c.(721-723)Cca>Tca	p.P241S	EYA4_ENST00000431403.2_Missense_Mutation_p.P241S|EYA4_ENST00000430974.2_Missense_Mutation_p.P187S|EYA4_ENST00000355167.3_Missense_Mutation_p.P241S|EYA4_ENST00000531901.1_Missense_Mutation_p.P241S|EYA4_ENST00000355286.6_Missense_Mutation_p.P218S|EYA4_ENST00000525849.1_Missense_Mutation_p.P218S|EYA4_ENST00000452339.2_Missense_Mutation_p.P187S	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	241					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.P241S(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTACCAAATGCCAGGTAAGTA	0.453000													21	45					0	0	0.003954	0	0
CLIP1	6249	broad.mit.edu	37	12	122862287	122862287	+	Silent	SNP	C	C	A	rs115820623	byFrequency	TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:122862287C>A	ENST00000358808.2	-	3	460	c.306G>T	c.(304-306)tcG>tcT	p.S102S	CLIP1_ENST00000537178.1_Silent_p.S102S|CLIP1_ENST00000302528.7_Silent_p.S102S|CLIP1_ENST00000540338.1_Silent_p.S102S|CLIP1_ENST00000361654.4_Silent_p.S102S	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	102	CAP-Gly 1.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.S102S(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTCCTGCCACCGAACCATCGT	0.453000													59	180					1.53716e-24	3.37425e-24	0.003610	1	0
EP400	57634	broad.mit.edu	37	12	132504687	132504687	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:132504687G>T	ENST00000333577.4	+	23	4588	c.4479G>T	c.(4477-4479)acG>acT	p.T1493T	EP400_ENST00000389561.2_Silent_p.T1457T|EP400_ENST00000330386.6_Silent_p.T1457T|EP400_ENST00000332482.4_Silent_p.T1420T|EP400_ENST00000389562.2_Silent_p.T1456T			Q96L91	EP400_HUMAN	E1A binding protein p400	1493					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.T1456T(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCCCACCACGGCCTCTGCTG	0.642000													49	78					1.35964e-18	2.84575e-18	0.003610	1	0
FAM46D	169966	broad.mit.edu	37	X	79698296	79698296	+	Silent	SNP	T	T	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:79698296T>A	ENST00000538312.1	+	5	592	c.258T>A	c.(256-258)atT>atA	p.I86I	FAM46D_ENST00000308293.5_Silent_p.I86I	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	86								p.I86I(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGGACGTTATTTTTGGTGTTG	0.378000													52	100					0	0	0.003610	0	0
BRINP2	57795	broad.mit.edu	37	1	177250606	177250606	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:177250606C>T	ENST00000361539.4	+	8	2606	c.2294C>T	c.(2293-2295)gCt>gTt	p.A765V	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		765						extracellular region		p.A765V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCCCTGAGGGCTTTCAATTCT	0.557000													14	125					0	0	0.004007	0	0
SYT14	255928	broad.mit.edu	37	1	210334260	210334260	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:210334260A>C	ENST00000537238.1	+	9	1818	c.1427A>C	c.(1426-1428)aAa>aCa	p.K476T	SYT14_ENST00000472886.1_Missense_Mutation_p.K514T|SYT14_ENST00000367019.1_Missense_Mutation_p.K533T|SYT14_ENST00000367015.1_Missense_Mutation_p.K476T|SYT14_ENST00000534859.1_Missense_Mutation_p.K540T|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Missense_Mutation_p.K578T	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	514	C2 2.					integral to membrane		p.K514T(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATGAAAAGAAAAGAGATGATA	0.393000													93	121					0	0	0.003610	0	0
CCDC150	284992	broad.mit.edu	37	2	197565880	197565880	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:197565880G>T	ENST00000389175.4	+	15	1806	c.1671G>T	c.(1669-1671)ctG>ctT	p.L557L	CCDC150_ENST00000272831.7_Silent_p.L225L	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	557								p.L557L(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAATAAACTGGCCTATGAAA	0.318000													11	22					1.08611e-07	1.96811e-07	0.000978	1	0
IFT57	55081	broad.mit.edu	37	3	107885748	107885748	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:107885748C>G	ENST00000264538.3	-	8	1181	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	312					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	p.E312Q(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			ACCAAATTCTCAAGCTGATTG	0.378000													9	47					0	0	0.004482	0	0
PDPR	55066	broad.mit.edu	37	16	70164389	70164389	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:70164389G>C	ENST00000288050.4	+	7	1628	c.671G>C	c.(670-672)gGa>gCa	p.G224A	PDPR_ENST00000398122.3_Missense_Mutation_p.G124A|PDPR_ENST00000568530.1_Missense_Mutation_p.G224A	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	224					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	p.G224A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CAAGTTACTGGAGTGGAGACC	0.428000													15	72					0	0	0.002450	0	0
PTK2	5747	broad.mit.edu	37	8	141745432	141745432	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:141745432T>C	ENST00000522684.1	-	22	2177	c.1948A>G	c.(1948-1950)Acc>Gcc	p.T650A	PTK2_ENST00000521059.1_Missense_Mutation_p.T650A|PTK2_ENST00000517887.1_Missense_Mutation_p.T694A|PTK2_ENST00000340930.3_Missense_Mutation_p.T650A|PTK2_ENST00000519419.1_Missense_Mutation_p.T694A|PTK2_ENST00000538769.1_Missense_Mutation_p.T318A|PTK2_ENST00000395218.2_Missense_Mutation_p.T650A|PTK2_ENST00000535192.1_Missense_Mutation_p.T650A|PTK2_ENST00000519465.1_Missense_Mutation_p.T278A	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	650	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	p.T650A(1)|p.T602A(1)|p.T672A(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTGTAGAGGGTAGGAGGACAA	0.488000													52	53					0	0	0.003610	0	0
CLIC1	1192	broad.mit.edu	37	6	31700099	31700099	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:31700099A>C	ENST00000375780.2	-	6	1031	c.459T>G	c.(457-459)gaT>gaG	p.D153E	CLIC1_ENST00000375779.2_Missense_Mutation_p.D153E|CLIC1_ENST00000375784.3_Missense_Mutation_p.D153E|CLIC1_ENST00000395892.1_Missense_Mutation_p.D153E			O00299	CLIC1_HUMAN	chloride intracellular channel 1	153	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	p.D153E(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						CACTGGTTTCATCCACTTCTT	0.478000													10	123					0	0	0.006214	0	0
ZMYND8	23613	broad.mit.edu	37	20	45920590	45920590	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr20:45920590C>A	ENST00000311275.7	-	6	803	c.550G>T	c.(550-552)Gac>Tac	p.D184Y	ZMYND8_ENST00000355972.4_Missense_Mutation_p.D184Y|ZMYND8_ENST00000396281.4_Missense_Mutation_p.D184Y|ZMYND8_ENST00000352431.2_Missense_Mutation_p.D204Y|ZMYND8_ENST00000372023.3_Missense_Mutation_p.D179Y|ZMYND8_ENST00000360911.3_Missense_Mutation_p.D179Y|ZMYND8_ENST00000262975.4_Missense_Mutation_p.D184Y|ZMYND8_ENST00000461685.1_Missense_Mutation_p.D204Y|ZMYND8_ENST00000471951.2_Missense_Mutation_p.D204Y|ZMYND8_ENST00000446994.2_Missense_Mutation_p.D121Y|ZMYND8_ENST00000458360.2_Missense_Mutation_p.D179Y|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Missense_Mutation_p.D179Y|ZMYND8_ENST00000536340.1_Missense_Mutation_p.D211Y			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	184	Bromo.						protein binding|zinc ion binding	p.D204Y(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCCGCATAGTCAGGGTGCTGT	0.458000													38	29					6.2361e-21	1.31543e-20	0.007835	1	0
CHRD	8646	broad.mit.edu	37	3	184106429	184106429	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:184106429G>T	ENST00000204604.1	+	21	2855	c.2609G>T	c.(2608-2610)cGg>cTg	p.R870L	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.R412L|CHRD_ENST00000450923.1_Missense_Mutation_p.R870L|CHRD_ENST00000348986.3_Missense_Mutation_p.R830L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	870					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.R870L(1)|p.R870M(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATGGGCCCCGGGGCTGCCGT	0.632000													67	79					1.02016e-41	2.4593e-41	0.003610	1	0
ZNF800	168850	broad.mit.edu	37	7	127013680	127013680	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:127013680A>T	ENST00000393313.1	-	5	2301	c.1710T>A	c.(1708-1710)aaT>aaA	p.N570K	ZNF800_ENST00000393312.1_Missense_Mutation_p.N570K|ZNF800_ENST00000265827.3_Missense_Mutation_p.N570K			Q2TB10	ZN800_HUMAN	zinc finger protein 800	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N570K(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTGCCACTTTATTTAGAACAA	0.353000													32	72					0	0	0.008361	0	0
LRP1B	53353	broad.mit.edu	37	2	141707940	141707940	+	Silent	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:141707940C>A	ENST00000389484.3	-	20	3971	c.3000G>T	c.(2998-3000)gtG>gtT	p.V1000V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1000	LDL-receptor class A 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V1000V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAACACAGCCCACCTCATCAC	0.463000										TSP Lung(27;0.18)			11	49					6.40141e-05	0.000108024	0.000978	1	0
FGA	2243	broad.mit.edu	37	4	155506940	155506940	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:155506940C>A	ENST00000302053.3	-	5	1719	c.1641G>T	c.(1639-1641)agG>agT	p.R547S	FGA_ENST00000403106.3_Missense_Mutation_p.R547S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	547					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R547S(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATTCTGAGCCCCTAGACTCAG	0.458000													26	64					7.41945e-09	1.35355e-08	0.005443	1	0
HRH2	3274	broad.mit.edu	37	5	175111225	175111225	+	Missense_Mutation	SNP	G	G	A	rs141845922		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:175111225G>A	ENST00000231683.2	+	1	2762	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	HRH2_ENST00000377291.2_Missense_Mutation_p.R330Q	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	330					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	p.R330Q(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	ACCCAAAGCCGAGAACCCAGG	0.592000													5	167					0	0	0.000602	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494338	106494338	+	RNA	SNP	C	C	A	rs1143336		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr14:106494338C>A	ENST00000390597.2	-	0	173																											ACACCCACTCCACTAGTGCTG	0.557000													18	69					2.35188e-11	4.40978e-11	0.006122	1	0
AGFG2	3268	broad.mit.edu	37	7	100151829	100151829	+	Silent	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:100151829C>T	ENST00000300176.4	+	5	821	c.699C>T	c.(697-699)ccC>ccT	p.P233P	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	233					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.P233P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGGAGACCCCTTTGCTGCAC	0.582000													21	33					0	0	0.008871	0	0
PYCR2	29920	broad.mit.edu	37	1	226110038	226110038	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:226110038G>T	ENST00000343818.6	-	3	332	c.184C>A	c.(184-186)Cac>Aac	p.H62N	RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.H62N|PYCR2_ENST00000478402.1_5'UTR	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	62					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity	p.H62N(1)		kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	ACGTCGCTGTGCTTCACCGTC	0.572000													67	57					4.29146e-36	1.02539e-35	0.003610	1	0
LRP12	29967	broad.mit.edu	37	8	105521219	105521219	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:105521219T>A	ENST00000276654.5	-	3	328	c.220A>T	c.(220-222)Atc>Ttc	p.I74F	LRP12_ENST00000424843.2_Missense_Mutation_p.I55F	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	74	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.I74F(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTACAGTTGATTTTTGCAGGA	0.398000													6	231					0	0	0.001984	0	0
GFRA1	2674	broad.mit.edu	37	10	117885010	117885010	+	Silent	SNP	G	G	A	rs79176106		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr10:117885010G>A	ENST00000439649.3	-	5	844	c.477C>T	c.(475-477)gaC>gaT	p.D159D	GFRA1_ENST00000544592.1_Silent_p.D43D|GFRA1_ENST00000355422.6_Silent_p.D164D|GFRA1_ENST00000369236.1_Silent_p.D159D	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	164					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	p.D159D(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGCAAATGTCGTCGAGGTTGC	0.587000													9	40					0	0	0.006214	0	0
TBX20	57057	broad.mit.edu	37	7	35271147	35271147	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:35271147G>T	ENST00000408931.3	-	6	1385	c.859C>A	c.(859-861)Cgg>Agg	p.R287R		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	287						nucleus	DNA binding	p.R287R(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GAGGAATCCCGGAATCCTTTG	0.378000													15	40					1.15088e-07	2.07158e-07	0.004007	1	0
MDN1	23195	broad.mit.edu	37	6	90424410	90424410	+	Silent	SNP	T	T	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:90424410T>A	ENST00000369393.3	-	46	7036	c.6921A>T	c.(6919-6921)ggA>ggT	p.G2307G	MDN1_ENST00000428876.1_Silent_p.G2307G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2307					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.G2307G(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGATTTCAAGTCCACGATTCC	0.418000													21	52					0	0	0.008871	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996585	143996585	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:143996585G>T	ENST00000323110.2	-	3	474	c.472C>A	c.(472-474)Ctc>Atc	p.L158I		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	158					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.L158I(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ACCATCGGGAGGAACCTCTGC	0.637000									Familial Hyperaldosteronism type I				13	38					7.93312e-07	1.37304e-06	0.002450	1	0
CALB2	794	broad.mit.edu	37	16	71406079	71406079	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:71406079G>C	ENST00000302628.4	+	2	195	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	CALB2_ENST00000349553.5_Missense_Mutation_p.E40Q	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	40	EF-hand 1.						calcium ion binding	p.E40Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TGAAGGTAAAGAGCTAGAAAA	0.478000													25	123					0	0	0.003954	0	0
TRPV6	55503	broad.mit.edu	37	7	142574906	142574906	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:142574906A>T	ENST00000359396.3	-	4	721	c.476T>A	c.(475-477)cTc>cAc	p.L159H	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	159					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.L159H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AAAGTAGATGAGGTTGCAGGG	0.627000													11	44					0	0	0.000978	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161073	151161073	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:151161073C>T	ENST00000367328.1	+	17	3511	c.3199C>T	c.(3199-3201)Ctc>Ttc	p.L1067F	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.L1067F	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1067					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.L1067F(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGAATCCTCCCTCCTGAGGTC	0.493000													17	52					0	0	0.004990	0	0
ZNF653	115950	broad.mit.edu	37	19	11598552	11598552	+	Silent	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr19:11598552C>A	ENST00000293771.5	-	4	862	c.726G>T	c.(724-726)gtG>gtT	p.V242V	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V242V(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGGGAATGTGCACGCCCTCCT	0.682000													16	42					6.94344e-10	1.27533e-09	0.006122	1	0
RAP1B	5908	broad.mit.edu	37	12	69047944	69047944	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:69047944C>T	ENST00000250559.9	+	5	467	c.236C>T	c.(235-237)gCa>gTa	p.A79V	RAP1B_ENST00000378985.3_Missense_Mutation_p.A13V|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000543697.1_Missense_Mutation_p.A79V|RAP1B_ENST00000543393.1_Missense_Mutation_p.A13V|RAP1B_ENST00000542145.1_Intron|RAP1B_ENST00000541216.1_Missense_Mutation_p.A79V|RAP1B_ENST00000540209.1_Missense_Mutation_p.A60V|RAP1B_ENST00000539091.1_Missense_Mutation_p.A37V|RAP1B_ENST00000537460.1_Missense_Mutation_p.A79V|RAP1B_ENST00000450214.2_Missense_Mutation_p.A37V|RAP1B_ENST00000341355.5_Missense_Mutation_p.A79V|RAP1B_ENST00000393436.5_Missense_Mutation_p.A79V	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	79					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	p.A79V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CAAGGATTTGCATTAGTTTAT	0.343000													9	363					0	0	0.008291	0	0
LAPTM5	7805	broad.mit.edu	37	1	31211800	31211800	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:31211800G>A	ENST00000294507.3	-	5	571	c.497C>T	c.(496-498)tCc>tTc	p.S166F		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	166					transport	integral to plasma membrane|lysosomal membrane		p.S166F(1)		large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTTCATGGACTTGAAGTT	0.542000													4	9					0	0	0.000248	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													5	213					0	0	0.001168	0	0
BTRC	8945	broad.mit.edu	37	10	103310589	103310589	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr10:103310589C>T	ENST00000370187.3	+	14	1908	c.1790C>T	c.(1789-1791)tCt>tTt	p.S597F	BTRC_ENST00000408038.2_Missense_Mutation_p.S561F|BTRC_ENST00000393441.4_Missense_Mutation_p.S556F|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	597					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		p.S597F(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CGTTCCCCTTCTCGAACATAC	0.453000													38	71					0	0	0.005524	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140734986	140734986	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:140734986G>T	ENST00000571252.1	+	1	219	c.219G>T	c.(217-219)caG>caT	p.Q73H	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGACGCAGCTTTTCGCCC	0.637000													9	137					7.48243e-07	1.31185e-06	0.006214	1	0
TNPO3	23534	broad.mit.edu	37	7	128655115	128655115	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:128655115C>A	ENST00000393245.1	-	4	843	c.470G>T	c.(469-471)cGt>cTt	p.R157L	TNPO3_ENST00000471166.1_Missense_Mutation_p.R157L|TNPO3_ENST00000471234.1_Missense_Mutation_p.R157L|TNPO3_ENST00000265388.5_Missense_Mutation_p.R157L|TNPO3_ENST00000482320.1_Missense_Mutation_p.R91L	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	157					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	p.R157L(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCGTAAGGAACGACTATGTAC	0.378000													11	76					2.27111e-07	4.03421e-07	0.001368	1	0
ZNF141	7700	broad.mit.edu	37	4	367610	367610	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:367610C>T	ENST00000240499.7	+	4	1533	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	462					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.R462W(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AGCCTTTAAACGGTTCTCACA	0.333000													24	81					0	0	0.003954	0	0
ADCY5	111	broad.mit.edu	37	3	123016213	123016213	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:123016213C>T	ENST00000462833.1	-	16	4129	c.2917G>A	c.(2917-2919)Ggg>Agg	p.G973R	ADCY5_ENST00000491190.1_Missense_Mutation_p.G606R|ADCY5_ENST00000309879.5_Missense_Mutation_p.G623R	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	973					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.G973R(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGGGAGGTCCCGTTGTTGAAG	0.637000													50	167					0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113237150	113237150	+	Silent	SNP	A	A	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:113237150A>T	ENST00000297405.5	-	71	11218	c.10974T>A	c.(10972-10974)ccT>ccA	p.P3658P	CSMD3_ENST00000455883.2_Silent_p.P3489P|CSMD3_ENST00000352409.3_Silent_p.P3588P|CSMD3_ENST00000343508.3_Silent_p.P3618P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3658						integral to membrane|plasma membrane		p.P3618P(1)|p.P3658P(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTGTGTTTTAGGTGCAGTCC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	242					0	0	0.002299	0	0
BCORL1	63035	broad.mit.edu	37	X	129148663	129148663	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:129148663C>A	ENST00000540052.1	+	3	1959	c.1915C>A	c.(1915-1917)Cgc>Agc	p.R639S	BCORL1_ENST00000303743.5_Missense_Mutation_p.R639S|BCORL1_ENST00000218147.7_Missense_Mutation_p.R639S|BCORL1_ENST00000359304.2_Missense_Mutation_p.R639S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	639	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.R639S(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCGAACCAGCGCAAGACACC	0.612000													21	111					1.28384e-07	2.29561e-07	0.001882	1	0
FAM208A	23272	broad.mit.edu	37	3	56695042	56695042	+	Silent	SNP	A	A	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:56695042A>G	ENST00000493960.2	-	10	1174	c.1164T>C	c.(1162-1164)ccT>ccC	p.P388P	FAM208A_ENST00000431842.2_5'UTR|FAM208A_ENST00000355628.5_Silent_p.P388P	NM_001112736.1	NP_001106207.1	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	388								p.P388P(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CTAATTTCTCAGGTCTGAAAG	0.313000													3	64					0	0	0.000248	0	0
PDE1C	5137	broad.mit.edu	37	7	31876892	31876892	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:31876892A>C	ENST00000396184.3	-	12	1309	c.1105T>G	c.(1105-1107)Tcc>Gcc	p.S369A	PDE1C_ENST00000396182.2_Missense_Mutation_p.S369A|PDE1C_ENST00000396191.1_Missense_Mutation_p.S369A|PDE1C_ENST00000396193.1_Missense_Mutation_p.S429A|PDE1C_ENST00000321453.7_Missense_Mutation_p.S369A	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	369	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.S369A(2)|p.S429A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCATAAGGGATAAGGCTTTT	0.423000													23	32					0	0	0.001882	0	0
SLC36A1	206358	broad.mit.edu	37	5	150844717	150844717	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:150844717G>A	ENST00000243389.3	+	5	629	c.406G>A	c.(406-408)Gca>Aca	p.A136T	SLC36A1_ENST00000520701.1_Missense_Mutation_p.A136T|SLC36A1_ENST00000429484.2_Missense_Mutation_p.A136T|SLC36A1_ENST00000521925.1_Missense_Mutation_p.A136T	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	136					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.A136T(2)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CCGGAACCACGCACACTGGGG	0.522000													15	132					0	0	0.004990	0	0
NDST3	9348	broad.mit.edu	37	4	119161837	119161837	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:119161837C>G	ENST00000296499.5	+	11	2680	c.2277C>G	c.(2275-2277)ttC>ttG	p.F759L		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	759	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.F759L(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TTGTTTATTTCCCCCCATTTC	0.448000													13	51					0	0	0.003163	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994335	140994335	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:140994335C>G	ENST00000285879.4	+	4	1431	c.1145C>G	c.(1144-1146)tCc>tGc	p.S382C	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	382							protein binding	p.S382C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCCTTCTCCTCCACTTTA	0.483000										HNSCC(15;0.026)			75	369					0	0	0.003610	0	0
RGAG4	340526	broad.mit.edu	37	X	71349706	71349706	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:71349706G>T	ENST00000545866.1	-	1	2052	c.1685C>A	c.(1684-1686)gCt>gAt	p.A562D	RGAG4_ENST00000479991.1_Missense_Mutation_p.A562D|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	562								p.A635D(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GCCACGAGCAGCTCGGTGGCC	0.612000													25	48					1.64293e-13	3.31039e-13	0.003330	1	0
TRPA1	8989	broad.mit.edu	37	8	72975784	72975784	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:72975784C>G	ENST00000262209.4	-	5	782	c.575G>C	c.(574-576)tGt>tCt	p.C192S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	192						integral to plasma membrane		p.C192S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATTTGATTTACATGGCTTAGC	0.383000													35	89					0	0	0.006999	0	0
XYLT1	64131	broad.mit.edu	37	16	17202764	17202764	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:17202764G>T	ENST00000261381.6	-	12	2752	c.2668C>A	c.(2668-2670)Cag>Aag	p.Q890K		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	890					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.Q890K(1)		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						CTCCGTGCCTGTTCCACCTGG	0.647000													37	47					6.86731e-36	1.62647e-35	0.006999	1	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682000													5	15					0	0	0.006214	0	0
PTPRM	5797	broad.mit.edu	37	18	8376062	8376062	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr18:8376062C>G	ENST00000332175.8	+	23	4188	c.3151C>G	c.(3151-3153)Cga>Gga	p.R1051G	PTPRM_ENST00000444013.1_Missense_Mutation_p.R838G|PTPRM_ENST00000400053.4_Missense_Mutation_p.R989G|PTPRM_ENST00000400060.4_Missense_Mutation_p.R1065G|PTPRM_ENST00000580170.1_Missense_Mutation_p.R1064G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1051	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1051G(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCATGAAATCCGAGAGATCAG	0.532000													66	101					0	0	0.003610	0	0
PCDH19	57526	broad.mit.edu	37	X	99661991	99661991	+	Silent	SNP	G	G	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:99661991G>A	ENST00000373034.4	-	1	3280	c.1605C>T	c.(1603-1605)gcC>gcT	p.A535A	PCDH19_ENST00000255531.7_Silent_p.A535A|PCDH19_ENST00000420881.2_Silent_p.A535A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	535	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A535A(1)|p.A36A(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGCCGTCCTTGGCCAGCACCT	0.572000													98	160					0	0	0.003610	0	0
HDAC4	9759	broad.mit.edu	37	2	240098157	240098157	+	Missense_Mutation	SNP	G	G	C	rs140596122		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:240098157G>C	ENST00000345617.3	-	5	1233	c.442C>G	c.(442-444)Cgg>Ggg	p.R148G	HDAC4_ENST00000541256.1_Missense_Mutation_p.R117G	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	148	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.R148G(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ttctgctcccggtgctgcttc	0.627000													6	236					0	0	0.003080	0	0
TBX19	9095	broad.mit.edu	37	1	168262479	168262479	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:168262479C>T	ENST00000367821.3	+	3	617	c.566C>T	c.(565-567)aCc>aTc	p.T189I		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	189					anatomical structure morphogenesis	nucleus	DNA binding	p.T189I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TTCCCTGAAACCCAGTTCATA	0.468000													15	56					0	0	0.003163	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													3	30					0	0	0.004672	0	0
TTC32	130502	broad.mit.edu	37	2	20096878	20096878	+	Nonstop_Mutation	SNP	T	T	A	rs149286415		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:20096878T>A	ENST00000402414.1	-	2	260	c.159A>T	c.(157-159)tgA>tgT	p.*53C	TTC32_ENST00000333610.3_Missense_Mutation_p.D109V			Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	0							identical protein binding	p.D109V(1)		kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAGCATCATCAAAATATCC	0.318000													18	45					0	0	0.007413	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302275	128302275	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:128302275C>A	ENST00000262462.4	+	1	1455	c.445C>A	c.(445-447)Cgc>Agc	p.R149S	SLC27A6_ENST00000395266.1_Missense_Mutation_p.R149S|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R149S			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	149					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.R149S(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAATTGCATCCGCGCCTGTGG	0.587000													12	23					7.93312e-07	1.37304e-06	0.002450	1	0
MAMLD1	10046	broad.mit.edu	37	X	149638271	149638271	+	Silent	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:149638271C>A	ENST00000370401.2	+	4	736	c.426C>A	c.(424-426)ggC>ggA	p.G142G	MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Silent_p.G142G|MAMLD1_ENST00000426613.2_Silent_p.G117G|MAMLD1_ENST00000432680.2_Silent_p.G117G			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	142					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.G142G(1)|p.G117G(1)|p.G69G(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ACATCATGGGCTCACCATTTG	0.507000													60	121					5.47352e-35	1.28509e-34	0.003610	1	0
PRLR	5618	broad.mit.edu	37	5	35065333	35065333	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:35065333G>A	ENST00000382002.5	-	10	2153	c.1727C>T	c.(1726-1728)gCc>gTc	p.A576V	PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.A475V|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.A475V|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	576					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.A576V(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGCCTCTTTGGCTGATTCTTC	0.502000													34	56					0	0	0.003755	0	0
TREML2	79865	broad.mit.edu	37	6	41166018	41166018	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:41166018G>T	ENST00000483722.1	-	2	390	c.205C>A	c.(205-207)Cga>Aga	p.R69R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	69	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.R128R(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACCCAGACTCGGGCAAAGCCA	0.577000													34	91					5.91797e-21	1.26814e-20	0.002445	1	0
HRNR	388697	broad.mit.edu	37	1	152191409	152191409	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:152191409C>A	ENST00000368801.2	-	3	2771	c.2696G>T	c.(2695-2697)gGg>gTg	p.G899V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	899					keratinization		calcium ion binding|protein binding	p.G899V(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCCCTGACCCAGACCCACG	0.647000													42	208					7.05121e-23	1.52306e-22	0.002522	1	0
A1CF	29974	broad.mit.edu	37	10	52610568	52610568	+	Splice_Site	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr10:52610568C>A	ENST00000395489.2	-	5	332		c.e5-1		A1CF_ENST00000374001.1_Intron|A1CF_ENST00000373995.3_Splice_Site|A1CF_ENST00000373997.3_Intron|A1CF_ENST00000373993.1_Intron|A1CF_ENST00000282641.2_Intron|A1CF_ENST00000395495.1_Intron	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTCTAAATTCCTTTCAAGAAG	0.413000													49	88					1.38658e-30	3.19979e-30	0.003610	1	0
TGM5	9333	broad.mit.edu	37	15	43552356	43552356	+	Silent	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr15:43552356C>T	ENST00000220420.5	-	3	337	c.330G>A	c.(328-330)gcG>gcA	p.A110A	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	110					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.A110A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GACCCACGGCCGCCGTGGGAG	0.617000													19	61					0	0	0.001882	0	0
DUS2	54920	broad.mit.edu	37	16	68104848	68104848	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:68104848G>T	ENST00000565263.1	+	12	1141	c.647G>T	c.(646-648)gGa>gTa	p.G216V	DUS2L_ENST00000358896.6_Missense_Mutation_p.G216V|DUS2L_ENST00000432752.1_Missense_Mutation_p.G181V	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		216					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	p.G216V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		TTTAGCGGAGGATCTCATGAC	0.512000													4	65					0.00024832	0.000411328	0.000248	1	0
CKMT1B	1159	broad.mit.edu	37	15	43890472	43890472	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr15:43890472C>G	ENST00000300283.6	+	8	1350	c.958C>G	c.(958-960)Ctg>Gtg	p.L320V	CKMT1B_ENST00000441322.1_Missense_Mutation_p.L320V	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	320	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	p.L320V(1)		large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TCCATCTAACCTGGGCACTGG	0.512000													4	114					0	0	0.001168	0	0
TRPC5	7224	broad.mit.edu	37	X	111097166	111097166	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:111097166C>A	ENST00000262839.2	-	4	1987	c.1069G>T	c.(1069-1071)Ggg>Tgg	p.G357W		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	357					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.G357W(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATGAACAGCCCAAGGTTGCTC	0.478000													51	87					3.68337e-26	8.2191e-26	0.003610	1	0
TFAP2B	7021	broad.mit.edu	37	6	50807918	50807918	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:50807918G>T	ENST00000263046.4	+	7	1183	c.1017G>T	c.(1015-1017)gaG>gaT	p.E339D	TFAP2B_ENST00000393655.3_Missense_Mutation_p.E330D			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	330					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.E330D(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCGAAACGGAGTTTCCCGCCA	0.483000													58	144					2.93687e-30	6.71996e-30	0.003610	1	0
KALRN	8997	broad.mit.edu	37	3	123987958	123987958	+	Silent	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:123987958C>T	ENST00000360013.3	+	5	946	c.819C>T	c.(817-819)gaC>gaT	p.D273D	KALRN_ENST00000460856.1_Silent_p.D273D|KALRN_ENST00000240874.3_Silent_p.D273D	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	273					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.D273D(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAGTGCTGACTTCCAGAGCC	0.652000													18	11					0	0	0.004990	0	0
CNTFR	1271	broad.mit.edu	37	9	34557978	34557978	+	Silent	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr9:34557978C>T	ENST00000378980.3	-	5	617	c.324G>A	c.(322-324)ccG>ccA	p.P108P	CNTFR_ENST00000351266.4_Silent_p.P108P	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	108	Fibronectin type-III 1.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding	p.P108P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GCTCCCGCGGCGGCACTGGGG	0.642000													17	101					0	0	0.006122	0	0
NAE1	8883	broad.mit.edu	37	16	66842900	66842900	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:66842900T>A	ENST00000379463.2	-	17	1403	c.1211A>T	c.(1210-1212)gAt>gTt	p.D404V	NAE1_ENST00000290810.3_Missense_Mutation_p.D410V|NAE1_ENST00000394074.2_Missense_Mutation_p.D321V|NAE1_ENST00000359087.4_Missense_Mutation_p.D413V	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	410					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	p.D410V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	ACTAATTTCATCCTTGTTAAT	0.303000													10	39					0	0	0.000978	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480848	140480848	+	Silent	SNP	G	G	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:140480848G>A	ENST00000231130.2	+	1	615	c.615G>A	c.(613-615)caG>caA	p.Q205Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		205	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.Q205Q(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGAGGAGCAGCCGGAACTCA	0.562000													41	76					0	0	0.002222	0	0
GAD2	2572	broad.mit.edu	37	10	26513487	26513487	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr10:26513487C>A	ENST00000376261.3	+	6	1134	c.631C>A	c.(631-633)Cca>Aca	p.P211T	GAD2_ENST00000259271.3_Missense_Mutation_p.P211T|GAD2_ENST00000376248.1_Missense_Mutation_p.P97T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	211					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.P211K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGAAATTGCTCCAGTATTTGT	0.383000													27	65					7.92952e-12	1.51842e-11	0.003954	1	0
LRTM1	57408	broad.mit.edu	37	3	54952687	54952687	+	Silent	SNP	C	C	A	rs150198745		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:54952687C>A	ENST00000273286.5	-	3	999	c.837G>T	c.(835-837)ccG>ccT	p.P279P	CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Silent_p.P203P|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	279						integral to membrane		p.P279P(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCAGGTTGGCCGGCCTTGGCT	0.602000													27	48					1.42536e-11	2.71018e-11	0.004656	1	0
MAGEC2	51438	broad.mit.edu	37	X	141290894	141290894	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:141290894G>T	ENST00000247452.3	-	3	1227	c.880C>A	c.(880-882)Cct>Act	p.P294T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	294	MAGE.					cytoplasm|nucleus		p.P294T(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TAATATGGAGGAGAACTGTGG	0.502000										HNSCC(46;0.14)			19	184					2.39187e-15	4.92981e-15	0.008871	1	0
SEL1L2	80343	broad.mit.edu	37	20	13830946	13830946	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr20:13830946C>T	ENST00000284951.5	-	19	1912	c.1838G>A	c.(1837-1839)aGa>aAa	p.R613K	SEL1L2_ENST00000378072.5_Missense_Mutation_p.R500K|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	613						integral to membrane	binding	p.R613K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTCGTACAATCTTCTGGCCAA	0.458000													16	49					0	0	0.004990	0	0
GUCY2F	2986	broad.mit.edu	37	X	108638636	108638636	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:108638636C>A	ENST00000218006.2	-	12	2649	c.2358G>T	c.(2356-2358)caG>caT	p.Q786H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	786	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.Q786H(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCTTCATCAGCTGGAGACATT	0.478000													112	179					2.2063e-47	5.41546e-47	0.003610	1	0
MYOM2	9172	broad.mit.edu	37	8	2037867	2037867	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:2037867G>T	ENST00000262113.4	+	15	1822	c.1681G>T	c.(1681-1683)Gcc>Tcc	p.A561S	MYOM2_ENST00000523438.1_5'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	561	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle	p.A561S(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGAGTCAACGCCCAGACGGC	0.577000													28	57					3.73148e-12	7.24819e-12	0.007291	1	0
ABCC5	10057	broad.mit.edu	37	3	183683279	183683279	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:183683279A>G	ENST00000334444.6	-	13	2084	c.1844T>C	c.(1843-1845)cTa>cCa	p.L615P	ABCC5_ENST00000265586.6_Missense_Mutation_p.L615P	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	615	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.L615P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTGCCCTCTAGAAGCGTCAT	0.507000													8	66					0	0	0.004482	0	0
LDB2	9079	broad.mit.edu	37	4	16590420	16590420	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:16590420G>T	ENST00000502640.1	-	4	592	c.444C>A	c.(442-444)acC>acA	p.T148T	LDB2_ENST00000304523.5_Silent_p.T148T|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000503178.2_Silent_p.T24T|LDB2_ENST00000441778.2_Silent_p.T148T|LDB2_ENST00000515064.1_Silent_p.T148T			O43679	LDB2_HUMAN	LIM domain binding 2	148							LIM domain binding|transcription cofactor activity	p.T148T(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GATCATCAAAGGTGAACTCCA	0.408000													16	66					1.5739e-10	2.91063e-10	0.004007	1	0
TBPL2	387332	broad.mit.edu	37	14	55903438	55903438	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr14:55903438C>A	ENST00000247219.5	-	2	519	c.449G>T	c.(448-450)aGt>aTt	p.S150I		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	150					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	p.S150I(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						ATTTGACAAACTGCTGCTGTT	0.493000													25	88					2.21704e-12	4.40147e-12	0.002780	1	0
FLT3	2322	broad.mit.edu	37	13	28602366	28602366	+	Silent	SNP	G	G	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr13:28602366G>A	ENST00000380982.4	-	16	2083	c.2002C>T	c.(2002-2004)Ctg>Ttg	p.L668L	FLT3_ENST00000537084.1_Silent_p.L668L|FLT3_ENST00000241453.7_Silent_p.L668L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	668	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.L668L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCTTCCCAGCTGGGTCATC	0.443000			"""Mis, O"""		"""AML, ALL"""								43	21					0	0	0.003214	0	0
IGSF8	93185	broad.mit.edu	37	1	160063787	160063787	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:160063787A>C	ENST00000368086.1	-	3	833	c.617T>G	c.(616-618)gTg>gGg	p.V206G	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.V206G			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	206	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.V206G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGCCTCGGGCACAGATCGCCC	0.627000													10	115					0	0	0.008291	0	0
PCK2	5106	broad.mit.edu	37	14	24566321	24566321	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr14:24566321C>T	ENST00000216780.4	+	2	518	c.250C>T	c.(250-252)Cga>Tga	p.R84*	PCK2_ENST00000561286.1_Intron|PCK2_ENST00000545054.2_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000559250.1_Nonsense_Mutation_p.R96*|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R84*	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	84					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.R84*(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGGCCTCATCCGAAAGCTCCC	0.552000													5	101					0	0	0.001168	0	0
USP31	57478	broad.mit.edu	37	16	23160107	23160107	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:23160107C>A	ENST00000219689.7	-	1	484	c.485G>T	c.(484-486)cGg>cTg	p.R162L		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	162					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R162L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CCGCCCCGCCCGGTACTGGCC	0.731000													4	15					0.000602214	0.000991451	0.000602	1	0
TANC1	85461	broad.mit.edu	37	2	160027194	160027194	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:160027194C>T	ENST00000263635.6	+	10	1466	c.1229C>T	c.(1228-1230)gCg>gTg	p.A410V	TANC1_ENST00000454300.1_Missense_Mutation_p.A304V	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	410						cell junction|postsynaptic density|postsynaptic membrane	binding	p.A410V(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AACAGAGGCGCGGTGGTGGTT	0.512000													5	115					0	0	0.001168	0	0
LRFN2	57497	broad.mit.edu	37	6	40399871	40399871	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:40399871G>T	ENST00000338305.6	-	2	1524	c.982C>A	c.(982-984)Cgc>Agc	p.R328S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	328	Ig-like.					cell junction|integral to membrane|postsynaptic membrane		p.R328S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTACCAGGCGGTCATCGGGG	0.587000													12	25					5.50884e-06	9.4738e-06	0.001368	1	0
KRT23	25984	broad.mit.edu	37	17	39092709	39092709	+	Silent	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr17:39092709C>T	ENST00000209718.3	-	2	571	c.147G>A	c.(145-147)acG>acA	p.T49T	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	49	Head.					intermediate filament	structural molecule activity	p.T49T(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGCAGCTCCGCGTGGTGAAGG	0.687000													24	73					0	0	0.003330	0	0
RAB5B	5869	broad.mit.edu	37	12	56380777	56380777	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:56380777G>T	ENST00000360299.5	+	2	254	c.33G>T	c.(31-33)ggG>ggT	p.G11G	RAB5B_ENST00000553116.1_Silent_p.G11G|RAB5B_ENST00000448789.2_Silent_p.G11G	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	11					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	p.G11G(1)		endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GGCCCAATGGGCAACCCCAGG	0.532000													21	44					1.50039e-11	2.83291e-11	0.001882	1	0
SLC30A5	64924	broad.mit.edu	37	5	68400536	68400536	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:68400536C>G	ENST00000396591.3	+	4	962	c.352C>G	c.(352-354)Cca>Gca	p.P118A	SLC30A5_ENST00000380860.4_3'UTR	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	118					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	p.P118A(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TCTTTGTGGACCACTAAGGTA	0.289000													6	179					0	0	0.001984	0	0
MOGS	7841	broad.mit.edu	37	2	74690042	74690042	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:74690042C>G	ENST00000233616.4	-	4	1036	c.874G>C	c.(874-876)Gcc>Ccc	p.A292P	MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.A186P	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	292					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	p.A292P(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TCAGGGGGGGCCCCTGGGGGC	0.587000													5	232					0	0	0.000602	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318895	21318895	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr17:21318895C>G	ENST00000583088.1	+	3	1136	c.241C>G	c.(241-243)Cgg>Ggg	p.R81G	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R81G	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.R81G(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CATCCGCTGGCGGTACATGCT	0.577000										Prostate(3;0.18)			6	44					0	0	0.003080	0	0
FAT4	79633	broad.mit.edu	37	4	126371065	126371065	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:126371065G>T	ENST00000394329.3	+	9	8907	c.8894G>T	c.(8893-8895)aGt>aTt	p.S2965I	FAT4_ENST00000335110.5_Missense_Mutation_p.S1263I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2965	Cadherin 28.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S2965I(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCTTAATTAGTGAGACAACA	0.333000													26	35					6.32553e-13	1.26511e-12	0.004656	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107459840	107459840	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:107459840G>T	ENST00000409382.3	-	2	1204	c.594C>A	c.(592-594)tcC>tcA	p.S198S	ST6GAL2_ENST00000361686.4_Silent_p.S198S|ST6GAL2_ENST00000409087.3_Silent_p.S198S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	198					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.S198S(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						CCCTGGACATGGAGGAGTACA	0.617000													22	70					2.89027e-11	5.38188e-11	0.002299	1	0
T	6862	broad.mit.edu	37	6	166578318	166578318	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:166578318A>C	ENST00000296946.2	-	5	1106	c.638T>G	c.(637-639)tTt>tGt	p.F213C	T_ENST00000366871.3_Missense_Mutation_p.F213C	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	213					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	p.F213C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		AGCTTTTGCAAATGGATTGTA	0.348000									Chordoma, Familial Clustering of				16	42					0	0	0.007413	0	0
BPNT1	10380	broad.mit.edu	37	1	220246208	220246208	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:220246208G>C	ENST00000469520.2	-	5	766	c.317C>G	c.(316-318)gCt>gGt	p.A106G	BPNT1_ENST00000322067.7_Missense_Mutation_p.A106G|BPNT1_ENST00000354807.3_Missense_Mutation_p.A106G|BPNT1_ENST00000544404.1_Missense_Mutation_p.A51G|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000414869.2_Intron			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	106					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	p.A106G(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TTCTTTAATAGCACTGTACTG	0.393000													14	172					0	0	0.004007	0	0
POLL	27343	broad.mit.edu	37	10	103345714	103345714	+	Silent	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr10:103345714C>T	ENST00000370162.3	-	3	809	c.315G>A	c.(313-315)ccG>ccA	p.P105P	POLL_ENST00000370172.1_Silent_p.P17P|POLL_ENST00000370169.1_Silent_p.P105P|POLL_ENST00000299206.4_Silent_p.P105P|POLL_ENST00000456836.2_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000436284.2_Silent_p.P17P|DPCD_ENST00000416979.2_Intron|POLL_ENST00000339310.3_Intron|DPCD_ENST00000470165.1_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	105	BRCT.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	p.P105P(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GCTGAGCACCCGGGGGCAGCT	0.602000								DNA polymerases (catalytic subunits)					8	44					0	0	0.003080	0	0
NUP98	4928	broad.mit.edu	37	11	3797197	3797197	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr11:3797197G>C	ENST00000324932.7	-	5	830	c.410C>G	c.(409-411)tCt>tGt	p.S137C	NUP98_ENST00000359171.4_Missense_Mutation_p.S137C|NUP98_ENST00000397007.4_Missense_Mutation_p.S137C|NUP98_ENST00000355260.3_Missense_Mutation_p.S137C|NUP98_ENST00000397004.4_Missense_Mutation_p.S137C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	137	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	p.S137C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AAAAGGATTAGAGGTGGTATT	0.378000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								93	134					0	0	0.003610	0	0
A2ML1	144568	broad.mit.edu	37	12	8998736	8998736	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:8998736T>A	ENST00000299698.7	+	14	1781	c.1601T>A	c.(1600-1602)cTg>cAg	p.L534Q	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Missense_Mutation_p.L43Q	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	378						extracellular space	endopeptidase inhibitor activity	p.L534Q(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GATCCTTCCCTGGTGATCTAT	0.453000													58	51					0	0	0.003610	0	0
HADHA	3030	broad.mit.edu	37	2	26455076	26455076	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:26455076delC	ENST00000380649.3	-	6	654	c.525delG	c.(523-525)ttfs	p.L176fs	HADHA_ENST00000457468.2_Frame_Shift_Del_p.L89fs|HADHA_ENST00000461025.1_5'UTR	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	176					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	AGGCCCCCAGCAAAACTTCAG	0.418													7	94	---	---	---	---					
HEATR5B	54497	broad.mit.edu	37	2	37276863	37276864	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:37276863_37276864insA	ENST00000233099.5	-	18	2723_2724	c.2628_2629insT	c.(2626-2631)ctgaagfs	p.K877fs	HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.K877fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	877							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCCATTCTTCCAAGAGCTTCCC	0.460													44	58	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													4	4	---	---	---	---					
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs63118461	by1000genomes	TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tac>tATCac	p.2026_2027insH	MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	798					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579													2	4	---	---	---	---					
MUC4	4585	broad.mit.edu	37	3	195515367	195515414	+	In_Frame_Del	DEL	GGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	GGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	-	rs55868431	by1000genomes	TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:195515367_195515414delGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	ENST00000463781.3	-	2	3496_3543	c.3037_3084delAGCCCTTCCTCAGTATCCACAGGTCACACCACCCCTCTTCCTGTCACC	c.(3037-3084)del	p.SPSSVSTGHTTPLPVT1013del	MUC4_ENST00000475231.1_In_Frame_Del_p.SPSSVSTGHTTPLPVT1013del|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1013	Repeat.|Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S1013_T1028delSPSSVSTGHTTPLPVT(4)|p.S1013G(2)|p.T1022A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGA	0.573													2	4	---	---	---	---					
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)atfs	p.I78fs	OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCATGGGACATTTTTTTTCGC	0.577													7	283	---	---	---	---					
COL26A1	136227	broad.mit.edu	37	7	101044670	101044672	+	RNA	DEL	AGG	AGG	-			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:101044670_101044672delAGG	ENST00000313669.7	+	0	350				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		TAATCCTGCCaggaggaggagga	0.527													2	4	---	---	---	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	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													4	4	---	---	---	---					
DOCK1	1793	broad.mit.edu	37	10	129172131	129172134	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr10:129172131_129172134delGTAA	ENST00000280333.6	+	34	3564		c.e34+1			NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1						apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTGATAAAATGTAAGTGTTGATTA	0.358													8	22	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)del	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58								p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													4	9	---	---	---	---					
NUP160	23279	broad.mit.edu	37	11	47819339	47819340	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr11:47819339_47819340insA	ENST00000378460.2	-	27	3326_3327	c.3280_3281insT	c.(3280-3282)ccgfs	p.P1094fs	NUP160_ENST00000530326.1_Frame_Shift_Ins_p.P980fs|NUP160_ENST00000528071.1_Frame_Shift_Ins_p.P980fs	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1094					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ACCCTTGCGGTAATTGTGGCGA	0.391													45	62	---	---	---	---					
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gcc>gc	p.AS587del	SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	587					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542													8	108	---	---	---	---					
NLRC5	84166	broad.mit.edu	37	16	57111872	57111872	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:57111872delT	ENST00000262510.6	+	43	5246	c.5021delT	c.(5020-5022)cgfs	p.L1674fs	NLRC5_ENST00000539144.1_Frame_Shift_Del_p.L1645fs|NLRC5_ENST00000308149.7_Frame_Shift_Del_p.L1645fs|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1674					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCAATGCCCTGGGGGATCCC	0.677													9	45	---	---	---	---					
NLRP4	147945	broad.mit.edu	37	19	56382227	56382227	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr19:56382227delG	ENST00000301295.6	+	7	2811	c.2389delG	c.(2389-2391)aafs	p.E797fs	NLRP4_ENST00000587891.1_Frame_Shift_Del_p.E722fs|NLRP4_ENST00000346986.5_Frame_Shift_Del_p.E741fs	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	797							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)		GCAGTGCTGCGAATACATCTC	0.512													42	41	---	---	---	---					
PLCB4	5332	broad.mit.edu	37	20	9449216	9449221	+	Splice_Site	DEL	AGGGAA	AGGGAA	-			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr20:9449216_9449221delAGGGAA	ENST00000378501.2	+	32	3227_3231	c.3212_splice	c.e32-1	p.1071_splice	PLCB4_ENST00000378473.3_Splice_Site_p.1083_splice|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Splice_Site_p.1071_splice|PLCB4_ENST00000378493.1_Splice_Site_p.1071_splice|PLCB4_ENST00000278655.4_Splice_Site_p.1071_splice|PLCB4_ENST00000414679.2_Splice_Site_p.1083_splice	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1071					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTAATACATAGGGAAAGCAAGGAAA	0.408													25	144	---	---	---	---					
DGCR5	26220	broad.mit.edu	37	22	18976301	18976324	+	RNA	DEL	TATTTATTTATTTATTTATTTATT	TATTTATTTATTTATTTATTTATT	-	rs139950802		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT	ENST00000438934.1	+	0	394				DGCR5_ENST00000421572.1_RNA|DGCR5_ENST00000440005.2_RNA																							TGGCTGGACAtatttatttatttatttatttatttatttattta	0.411													4	5	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													4	6	---	---	---	---					
