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
ERBB4	2066	broad.mit.edu	37	2	212251600	212251600	+	Silent	SNP	A	A	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:212251600A>C	ENST00000342788.4	-	27	3769	c.3459T>G	c.(3457-3459)ccT>ccG	p.P1153P	ERBB4_ENST00000402597.1_Silent_p.P1143P|ERBB4_ENST00000436443.1_Silent_p.P1137P	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1153					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGTCTCGCATAGGAGTCATGT	0.468000										TSP Lung(8;0.080)			35	28					0	0	0.003755	0	0
NME7	29922	broad.mit.edu	37	1	169138773	169138773	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:169138773C>A	ENST00000367811.3	-	11	1266	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	NME7_ENST00000472647.1_Missense_Mutation_p.R301L	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	337					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AGTTCCAGGGCGTAAATGCCG	0.363000													44	164					8.00217e-19	3.78051e-18	0.003610	1	0
KPNA3	3839	broad.mit.edu	37	13	50293956	50293956	+	Splice_Site	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr13:50293956C>G	ENST00000261667.3	-	10	1141		c.e10-1			NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)						interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTGGCAAAATCTGAGGAAAGA	0.333000													17	4					0	0	0.007413	0	0
DYNLL1	8655	broad.mit.edu	37	12	120934324	120934324	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:120934324A>G	ENST00000550845.1	+	2	224	c.100A>G	c.(100-102)Ata>Gta	p.I34V	DYNLL1_ENST00000550178.1_Missense_Mutation_p.I34V|DYNLL1_ENST00000548342.1_Missense_Mutation_p.I34V|DYNLL1_ENST00000549989.1_Missense_Mutation_p.I34V|DYNLL1_ENST00000392509.2_Missense_Mutation_p.I34V|DYNLL1_ENST00000548214.1_Missense_Mutation_p.I34V|DYNLL1_ENST00000392508.2_Missense_Mutation_p.I34V|DYNLL1_ENST00000242577.6_Missense_Mutation_p.I34V|DYNLL1_ENST00000552870.1_Missense_Mutation_p.I34V			P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	34					actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAATACAACATAGAGAAGGA	0.577000													20	85					0	0	0.001882	0	0
HERC1	8925	broad.mit.edu	37	15	63950807	63950807	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:63950807C>T	ENST00000443617.2	-	48	9622	c.9535G>A	c.(9535-9537)Gct>Act	p.A3179T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3179					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGAGCAGCAGCAGTCACTCTC	0.493000													13	36					0	0	0.001368	0	0
REV3L	5980	broad.mit.edu	37	6	111689002	111689002	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:111689002A>T	ENST00000435970.1	-	16	6571	c.5755T>A	c.(5755-5757)Tgc>Agc	p.C1919S	REV3L_ENST00000368805.1_Missense_Mutation_p.C1997S|REV3L_ENST00000358835.3_Missense_Mutation_p.C1997S|REV3L_ENST00000368802.3_Missense_Mutation_p.C1997S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1997					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCACATTTGCAAGGCATAATC	0.453000								DNA polymerases (catalytic subunits)					27	63					0	0	0.004656	0	0
PEG3	5178	broad.mit.edu	37	19	57335898	57335898	+	Silent	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:57335898A>T	ENST00000326441.9	-	4	489	c.126T>A	c.(124-126)tcT>tcA	p.S42S	PEG3_ENST00000423103.2_Silent_p.S42S|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Intron|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	42					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAAAAAACTCAGAGTCAGTTG	0.483000													17	58					0	0	0.004007	0	0
CSTL1	128817	broad.mit.edu	37	20	23420933	23420933	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr20:23420933T>C	ENST00000347397.1	+	2	275	c.29T>C	c.(28-30)cTg>cCg	p.L10P	CSTL1_ENST00000246020.2_Missense_Mutation_p.L10P|CSTL1_ENST00000472140.1_3'UTR	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	10						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					AGAAACCCCCTGCTGCTGCTG	0.552000													18	51					0	0	0.007413	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081052	53081052	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:53081052G>A	ENST00000305901.5	-	1	1157	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	344					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		AAGGTCTCCCGGCCGGATTTG	0.672000													21	43					0	0	0.002780	0	0
SCN10A	6336	broad.mit.edu	37	3	38835351	38835351	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:38835351G>A	ENST00000449082.2	-	1	150	c.151C>T	c.(151-153)Cct>Tct	p.P51S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	51					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGGGCCGAGGCTTCTCTTCT	0.552000													55	18					0	0	0.003610	0	0
PLOD2	5352	broad.mit.edu	37	3	145790383	145790383	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:145790383C>T	ENST00000282903.5	-	17	1990	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	PLOD2_ENST00000360060.3_Missense_Mutation_p.E584K|PLOD2_ENST00000494950.1_Missense_Mutation_p.E550K|PLOD2_ENST00000461497.1_Missense_Mutation_p.E265K|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	584					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CCGTAATGTTCCATTTCTTCT	0.368000													14	53					0	0	0.004007	0	0
PCDH10	57575	broad.mit.edu	37	4	134071332	134071332	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:134071332G>C	ENST00000264360.4	+	1	863	c.37G>C	c.(37-39)Gtg>Ctg	p.V13L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	13					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCTCTGGATGGTGGAAGGAGT	0.517000													28	103					0	0	0.001786	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563721	140563721	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:140563721C>T	ENST00000361016.2	+	1	2742	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		529	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTCGAGTTCCGCGTGAGCG	0.682000													62	13					0	0	0.003610	0	0
CDH9	1007	broad.mit.edu	37	5	26903856	26903856	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:26903856C>T	ENST00000231021.4	-	6	1061	c.889G>A	c.(889-891)Gtg>Atg	p.V297M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	297	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTTCCCCCACGTCAGGGTCA	0.413000													35	126					0	0	0.003271	0	0
SORL1	6653	broad.mit.edu	37	11	121454271	121454271	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:121454271G>T	ENST00000260197.7	+	26	3814	c.3685G>T	c.(3685-3687)Gat>Tat	p.D1229Y	SORL1_ENST00000525532.1_Missense_Mutation_p.D173Y|SORL1_ENST00000532694.1_Missense_Mutation_p.D75Y|SORL1_ENST00000534286.1_Missense_Mutation_p.D139Y	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1229	LDL-receptor class A 4.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGATGGTTCCGATGAGGATCC	0.597000													27	28					6.12954e-19	2.93342e-18	0.004656	1	0
TRIM35	23087	broad.mit.edu	37	8	27145584	27145584	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:27145584G>C	ENST00000305364.4	-	6	1048	c.965C>G	c.(964-966)aCc>aGc	p.T322S	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	322	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGTGACGCTGGTGAGGTCGTC	0.627000													15	48					0	0	0.004990	0	0
RASGRF2	5924	broad.mit.edu	37	5	80366391	80366391	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:80366391G>T	ENST00000265080.4	+	4	691	c.624G>T	c.(622-624)aaG>aaT	p.K208N	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	208	IQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACATCAAGAAGATTAAAAAGG	0.473000													14	19					1.5842e-08	6.67175e-08	0.001855	1	0
CREBBP	1387	broad.mit.edu	37	16	3900396	3900396	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:3900396C>G	ENST00000262367.5	-	2	1509	c.700G>C	c.(700-702)Gcc>Ccc	p.A234P	CREBBP_ENST00000382070.3_Missense_Mutation_p.A234P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	234	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGCTCGAGGCGCCCTGCATG	0.622000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						3	62					0	0	0.004672	0	0
AFF2	2334	broad.mit.edu	37	X	148048568	148048568	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:148048568C>A	ENST00000370460.2	+	14	3641	c.3162C>A	c.(3160-3162)agC>agA	p.S1054R	AFF2_ENST00000370457.5_Missense_Mutation_p.S1019R|AFF2_ENST00000286437.5_Missense_Mutation_p.S695R|AFF2_ENST00000342251.3_Missense_Mutation_p.S1021R	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1054					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TATCCAGCAGCAGCACTAATG	0.527000													132	21					7.55469e-51	3.86653e-50	0.003610	1	0
GRID2	2895	broad.mit.edu	37	4	94032099	94032099	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:94032099A>T	ENST00000282020.4	+	4	988	c.730A>T	c.(730-732)Act>Tct	p.T244S	GRID2_ENST00000510992.1_Missense_Mutation_p.T149S|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	244					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATCCTTCATTACTGAGGTAAG	0.408000													27	34					0	0	0.005443	0	0
CCDC27	148870	broad.mit.edu	37	1	3669095	3669095	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:3669095A>G	ENST00000294600.2	+	1	134	c.50A>G	c.(49-51)gAt>gGt	p.D17G		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	17										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CTGAAGAGAGATCCACGGGAA	0.572000													13	45					0	0	0.001855	0	0
PROX1	5629	broad.mit.edu	37	1	214184944	214184944	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:214184944C>G	ENST00000366958.4	+	4	2522	c.1914C>G	c.(1912-1914)taC>taG	p.Y638*	PROX1_ENST00000498508.2_Nonsense_Mutation_p.Y638*|PROX1_ENST00000261454.4_Nonsense_Mutation_p.Y638*|PROX1_ENST00000435016.1_Nonsense_Mutation_p.Y638*	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	638	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TGGAGAAGTACGCACGTCAAG	0.423000													44	23					0	0	0.003610	0	0
NIPBL	25836	broad.mit.edu	37	5	37052609	37052609	+	Missense_Mutation	SNP	A	A	G	rs150935361	by1000genomes	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:37052609A>G	ENST00000282516.8	+	42	7703	c.7204A>G	c.(7204-7206)Aac>Gac	p.N2402D	NIPBL_ENST00000448238.2_Missense_Mutation_p.N2402D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2402					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GATCCGTGGAAACCGCCAACA	0.413000													19	47					0	0	0.001882	0	0
RC3H1	149041	broad.mit.edu	37	1	173952661	173952661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:173952661C>A	ENST00000367696.2	-	4	838	c.487G>T	c.(487-489)Gaa>Taa	p.E163*	RC3H1_ENST00000367694.2_Nonsense_Mutation_p.E163*|RC3H1_ENST00000258349.4_Nonsense_Mutation_p.E163*			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	163					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ACTGTTCGTTCACCTAAAGAT	0.512000													35	40					2.42023e-17	1.12183e-16	0.003271	1	0
DNAH17	8632	broad.mit.edu	37	17	76567831	76567831	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:76567831G>C	ENST00000389840.5	-	4	697	c.573C>G	c.(571-573)caC>caG	p.H191Q	DNAH17_ENST00000585328.1_Missense_Mutation_p.H191Q					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTCAATGGCGTGCAGGAGCA	0.617000													19	98					0	0	0.002299	0	0
NAALADL2	254827	broad.mit.edu	37	3	174814816	174814816	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:174814816A>G	ENST00000454872.1	+	2	408	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	94					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AACTTCACCCAAAGGAAGGTT	0.433000													11	70					0	0	0.008291	0	0
MOXD1	26002	broad.mit.edu	37	6	132619016	132619016	+	Missense_Mutation	SNP	C	C	G	rs140134245	by1000genomes	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:132619016C>G	ENST00000367963.3	-	11	1705	c.1587G>C	c.(1585-1587)tgG>tgC	p.W529C	MOXD1_ENST00000336749.3_Missense_Mutation_p.W461C	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	529					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CCTTTTTAGTCCATTTAAACT	0.403000													14	28					0	0	0.001855	0	0
ZNF135	7694	broad.mit.edu	37	19	58578599	58578599	+	Silent	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:58578599A>G	ENST00000506786.1	+	5	1175	c.621A>G	c.(619-621)aaA>aaG	p.K207K	ZNF135_ENST00000439855.2_Silent_p.K249K|ZNF135_ENST00000313434.5_Silent_p.K249K|ZNF135_ENST00000511556.1_Silent_p.K261K|ZNF135_ENST00000401053.4_Silent_p.K273K|ZNF135_ENST00000359978.6_Silent_p.K261K			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	261					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AATGCTTAAAAGGCTTCCGGA	0.498000													3	97					0	0	0.004672	0	0
NBPF1	55672	broad.mit.edu	37	1	16891305	16891305	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:16891305G>A	ENST00000430580.2	-	28	4060	c.3173C>T	c.(3172-3174)cCc>cTc	p.P1058L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1038	NBPF 7.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAGTTACCTGGGGCATGGTGG	0.438000													8	521					0	0	0.008291	0	0
HDHD2	84064	broad.mit.edu	37	18	44641700	44641700	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:44641700G>T	ENST00000300605.6	-	5	567	c.415C>A	c.(415-417)Cct>Act	p.P139T	HDHD2_ENST00000587841.1_5'UTR	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	139							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						GCTATCAGAGGTGCTCCATCC	0.438000													17	25					5.01169e-05	0.000192376	0.004990	1	0
ATF6	22926	broad.mit.edu	37	1	161736177	161736177	+	Silent	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:161736177C>A	ENST00000367942.3	+	1	94	c.27C>A	c.(25-27)ggC>ggA	p.G9G		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	9	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GGGTTGCCGGCACCATGGAGT	0.582000													11	52					3.07112e-06	1.19127e-05	0.000978	1	0
PPP1R12A	4659	broad.mit.edu	37	12	80211242	80211242	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:80211242C>T	ENST00000450142.2	-	9	1437	c.1171G>A	c.(1171-1173)Gct>Act	p.A391T	PPP1R12A_ENST00000550107.1_Missense_Mutation_p.A391T|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.A304T|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.A391T|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.A391T	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	391						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GCTACAGGAGCTGCTTGTGTA	0.358000													6	21					0	0	0.001168	0	0
NPAS2	4862	broad.mit.edu	37	2	101607326	101607326	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:101607326G>A	ENST00000335681.5	+	19	2388	c.2103G>A	c.(2101-2103)cgG>cgA	p.R701R	NPAS2_ENST00000542504.1_Silent_p.R766R	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	701					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGACGGGACGGCAAGTCAAGT	0.647000													38	12					0	0	0.006230	0	0
PALB2	79728	broad.mit.edu	37	16	23646937	23646937	+	Silent	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:23646937A>G	ENST00000261584.4	-	4	1082	c.930T>C	c.(928-930)agT>agC	p.S310S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	310	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GGCCACTTTTACTTATAGCTT	0.343000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					43	88					0	0	0.002222	0	0
RECQL5	9400	broad.mit.edu	37	17	73625498	73625498	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:73625498C>T	ENST00000317905.5	-	16	2164	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T	RECQL5_ENST00000423245.2_Missense_Mutation_p.A642T|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	669					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTTCCGTGGCCGTCTGGAAC	0.657000								Other identified genes with known or suspected DNA repair function					11	50					0	0	0.001368	0	0
GRM5	2915	broad.mit.edu	37	11	88386529	88386529	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:88386529C>A	ENST00000418177.2	-	4	1321	c.954G>T	c.(952-954)caG>caT	p.Q318H	GRM5_ENST00000393297.1_Missense_Mutation_p.Q318H|GRM5_ENST00000305447.4_Missense_Mutation_p.Q318H|GRM5_ENST00000305432.5_Missense_Mutation_p.Q318H|GRM5_ENST00000455756.2_Missense_Mutation_p.Q318H			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	318					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CAGCTTCTCGCTGATATCCAT	0.453000													17	79					1.67942e-08	7.03255e-08	0.006122	1	0
SYNPO2	171024	broad.mit.edu	37	4	119952081	119952081	+	Silent	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:119952081A>T	ENST00000307142.4	+	4	2347	c.2151A>T	c.(2149-2151)tcA>tcT	p.S717S	SYNPO2_ENST00000429713.2_Silent_p.S717S|SYNPO2_ENST00000434046.2_Silent_p.S717S|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	717						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTCAAAATTCAGAAGGCAAAC	0.493000													14	34					0	0	0.002450	0	0
TNIK	23043	broad.mit.edu	37	3	170784416	170784416	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:170784416G>A	ENST00000436636.2	-	31	4152	c.3808C>T	c.(3808-3810)Cgg>Tgg	p.R1270W	TNIK_ENST00000357327.5_Missense_Mutation_p.R1241W|TNIK_ENST00000284483.8_Missense_Mutation_p.R1262W|TNIK_ENST00000475336.1_Missense_Mutation_p.R1178W|TNIK_ENST00000341852.6_Missense_Mutation_p.R1186W|TNIK_ENST00000538048.1_Missense_Mutation_p.R1222W|TNIK_ENST00000488470.1_Missense_Mutation_p.R1215W|TNIK_ENST00000460047.1_Missense_Mutation_p.R1207W|TNIK_ENST00000369326.5_Missense_Mutation_p.R1248W|TNIK_ENST00000470834.1_Missense_Mutation_p.R1233W	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1270	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTAGTTATCCGGCCATAGGTG	0.458000													11	99					0	0	0.001368	0	0
TET1	80312	broad.mit.edu	37	10	70406098	70406098	+	Silent	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:70406098T>C	ENST00000373644.4	+	4	3821	c.3612T>C	c.(3610-3612)caT>caC	p.H1204H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1204					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTTGTCCACATGATTTTCCTA	0.388000													17	45					0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9008172	9008172	+	Splice_Site	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:9008172C>A	ENST00000397910.4	-	41	39583		c.e41+1			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCCACTCACCATTGACGTA	0.527000													57	158					1.87469e-40	9.5286e-40	0.003610	1	0
ADAM11	4185	broad.mit.edu	37	17	42850673	42850673	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:42850673G>A	ENST00000200557.6	+	11	1039	c.870G>A	c.(868-870)atG>atA	p.M290I	ADAM11_ENST00000535346.1_Missense_Mutation_p.M90I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	290	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TGGTTGCCATGGAAACATGGG	0.622000													25	93					0	0	0.005443	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60025571	60025571	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:60025571C>T	ENST00000586569.1	+	5	556	c.518C>T	c.(517-519)aCc>aTc	p.T173I	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.T173I	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	173					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AGACCCTGGACCAAGTAAGTA	0.478000													21	52					0	0	0.001882	0	0
NSMCE4A	54780	broad.mit.edu	37	10	123719881	123719881	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:123719881G>A	ENST00000538652.1	-	8	1140	c.503C>T	c.(502-504)cCa>cTa	p.P168L	NSMCE4A_ENST00000369023.3_Missense_Mutation_p.P327L|NSMCE4A_ENST00000489266.1_5'UTR			Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	327										breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				ACCTATTACTGGCAGTCGGTC	0.289000													9	25					0	0	0.008291	0	0
KCNK16	83795	broad.mit.edu	37	6	39285582	39285582	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:39285582C>A	ENST00000425054.2	-	3	474	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	KCNK16_ENST00000373229.5_Missense_Mutation_p.D159Y|KCNK16_ENST00000437525.2_Missense_Mutation_p.D159Y|KCNK16_ENST00000373227.4_Missense_Mutation_p.D159Y|KCNK16_ENST00000507712.1_Missense_Mutation_p.D94Y	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	159						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CTGGGACGGTCCTCCCATCTT	0.587000													11	8					1.58986e-06	6.33367e-06	0.008291	1	0
HIVEP2	3097	broad.mit.edu	37	6	143095631	143095631	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:143095631T>G	ENST00000367603.2	-	5	987	c.245A>C	c.(244-246)aAg>aCg	p.K82T	HIVEP2_ENST00000012134.2_Missense_Mutation_p.K82T|HIVEP2_ENST00000367604.1_Missense_Mutation_p.K82T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGATATTGCTTCTCTGCGAC	0.527000													36	66					0	0	0.004289	0	0
CR1	1378	broad.mit.edu	37	1	207751508	207751508	+	Silent	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:207751508C>A	ENST00000367049.4	+	29	4896	c.4896C>A	c.(4894-4896)gcC>gcA	p.A1632A	CR1_ENST00000400960.2_Silent_p.A1182A|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.A1182A|CR1_ENST00000367052.1_Silent_p.A1182A|CR1_ENST00000367053.1_Silent_p.A1182A	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1182	Sushi 25.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGTGCCAGGCCCTGAACAAAT	0.512000													31	79					4.92203e-23	2.41836e-22	0.006230	1	0
RELN	5649	broad.mit.edu	37	7	103214584	103214584	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:103214584C>A	ENST00000428762.1	-	30	4625	c.4466G>T	c.(4465-4467)gGg>gTg	p.G1489V	RELN_ENST00000343529.5_Missense_Mutation_p.G1489V|RELN_ENST00000424685.2_Missense_Mutation_p.G1489V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1489					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCCTTTTCCCAGGGCCATT	0.473000													621	142					8.2041e-283	4.25804e-282	0.003610	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21377659	21377659	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:21377659G>A	ENST00000256958.2	+	14	1847	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	584					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATTACAGGAGGAATTCTAGCT	0.353000													44	64					0	0	0.003610	0	0
AURKC	6795	broad.mit.edu	37	19	57746416	57746416	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:57746416G>T	ENST00000302804.7	+	6	935	c.749G>T	c.(748-750)cGc>cTc	p.R250L	AURKC_ENST00000415300.2_Missense_Mutation_p.R231L|AURKC_ENST00000599062.1_Missense_Mutation_p.R247L|AURKC_ENST00000598785.1_Missense_Mutation_p.R216L|AURKC_ENST00000448930.1_Missense_Mutation_p.R216L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	250	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACTTACAGACGCATCCTCAAG	0.552000													11	48					4.68919e-08	1.91996e-07	0.008291	1	0
ADAM28	10863	broad.mit.edu	37	8	24167753	24167753	+	Splice_Site	SNP	T	T	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:24167753T>A	ENST00000265769.4	+	4	415	c.306_splice	c.e4+1	p.M102_splice	ADAM28_ENST00000437154.2_Splice_Site_p.M102_splice|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	102					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCACAAATTATGGTATAACGG	0.403000													6	26					0	0	0.001168	0	0
WSCD2	9671	broad.mit.edu	37	12	108589613	108589613	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:108589613G>T	ENST00000332082.4	+	3	822	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S	WSCD2_ENST00000261400.3_Missense_Mutation_p.A2S|WSCD2_ENST00000547525.1_Missense_Mutation_p.A2S|WSCD2_ENST00000549903.1_Missense_Mutation_p.A2S			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	2						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TCCCACTATGGCCAAGCTCTG	0.562000													13	40					0.00136819	0.00501671	0.001368	1	0
ZNF582	147948	broad.mit.edu	37	19	56901764	56901764	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:56901764T>C	ENST00000301310.4	-	3	274	c.116A>G	c.(115-117)tAc>tGc	p.Y39C	ZNF582_ENST00000586929.1_Missense_Mutation_p.Y39C	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CAGGTTGCTGTAGGTCTCCAA	0.493000													42	74					0	0	0.003214	0	0
NBEAP1	606	broad.mit.edu	37	15	20876572	20876572	+	RNA	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:20876572G>T	ENST00000556948.1	-	0	28																											CTCCAAGACAGGTCTAGTTAT	0.308000													17	87					1.01871e-10	4.44255e-10	0.008871	1	0
SLC2A3	6515	broad.mit.edu	37	12	8083916	8083916	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:8083916G>A	ENST00000075120.7	-	4	675	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	145					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CAGTAGGCGAGATCTCTCCAA	0.517000													38	47					0	0	0.005524	0	0
TRRAP	8295	broad.mit.edu	37	7	98501107	98501107	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:98501107G>T	ENST00000359863.4	+	12	1212	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S	TRRAP_ENST00000446306.3_Missense_Mutation_p.A335S|TRRAP_ENST00000355540.3_Missense_Mutation_p.A335S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	335					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTGATTGCTGCCAAACACAT	0.498000													34	70					1.47244e-24	7.28317e-24	0.006230	1	0
POLG2	11232	broad.mit.edu	37	17	62492731	62492731	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:62492731A>G	ENST00000539111.2	-	1	423	c.356T>C	c.(355-357)gTg>gCg	p.V119A		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	119				WWTSVVVFREQ -> MVDLGGGVHGA (in Ref. 5; AAC51321).	DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCTGAACACCACCACCGAGGT	0.602000													28	47					0	0	0.006320	0	0
SI	6476	broad.mit.edu	37	3	164732915	164732915	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:164732915G>A	ENST00000264382.3	-	33	4057	c.3995C>T	c.(3994-3996)gCa>gTa	p.A1332V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1332	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAGTACCTTTGCCCAACAAAT	0.323000										HNSCC(35;0.089)			12	31					0	0	0.001368	0	0
LAMA2	3908	broad.mit.edu	37	6	129670496	129670496	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:129670496G>A	ENST00000421865.2	+	31	4539	c.4490G>A	c.(4489-4491)tGt>tAt	p.C1497Y		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1497	Laminin EGF-like 16.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCACGGCTTGTCCACGGGGA	0.433000													20	35					0	0	0.003330	0	0
CPNE5	57699	broad.mit.edu	37	6	36767826	36767826	+	Missense_Mutation	SNP	C	C	T	rs148202375		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:36767826C>T	ENST00000244751.2	-	4	829	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	69	C2 1.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCGTGTTGTCGATGACTTCG	0.562000													8	27					0	0	0.003080	0	0
GABRB3	2562	broad.mit.edu	37	15	26812872	26812872	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:26812872G>T	ENST00000541819.2	-	8	961	c.859C>A	c.(859-861)Cct>Act	p.P287T	GABRB3_ENST00000545868.1_Missense_Mutation_p.P146T|GABRB3_ENST00000400188.3_Missense_Mutation_p.P160T|GABRB3_ENST00000311550.5_Missense_Mutation_p.P231T|GABRB3_ENST00000299267.4_Missense_Mutation_p.P231T			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	231					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GACAGTCGAGGATAGGCACCT	0.433000													12	22					3.27435e-08	1.36339e-07	0.002450	1	0
A1CF	29974	broad.mit.edu	37	10	52575977	52575977	+	Silent	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:52575977A>T	ENST00000395489.2	-	11	1305	c.909T>A	c.(907-909)gtT>gtA	p.V303V	A1CF_ENST00000395495.1_Silent_p.V255V|A1CF_ENST00000493415.1_5'UTR|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Silent_p.V310V|A1CF_ENST00000282641.2_Silent_p.V310V|A1CF_ENST00000373997.3_Silent_p.V310V|A1CF_ENST00000373995.3_Silent_p.V318V|A1CF_ENST00000373993.1_Silent_p.V310V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	310	RRM 3.				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						GGGTATACCTAACATAACTGT	0.493000													18	50					0	0	0.008871	0	0
FANCG	2189	broad.mit.edu	37	9	35079225	35079225	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr9:35079225G>C	ENST00000378643.3	-	2	589	c.98C>G	c.(97-99)tCc>tGc	p.S33C		NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	33					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTCAGACCGGAGTTCTGAGC	0.572000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					4	5					0	0	0.000248	0	0
ITGA1	3672	broad.mit.edu	37	5	52211340	52211340	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:52211340A>T	ENST00000282588.6	+	15	2362	c.1904A>T	c.(1903-1905)cAg>cTg	p.Q635L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	635					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTTTTTGGCCAGTCTATCCAC	0.418000													66	19					0	0	0.003610	0	0
CECR2	27443	broad.mit.edu	37	22	18028225	18028225	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr22:18028225G>C	ENST00000262608.8	+	16	3185	c.3185G>C	c.(3184-3186)aGa>aCa	p.R1062T	CECR2_ENST00000400585.2_Missense_Mutation_p.R919T|CECR2_ENST00000400573.4_Missense_Mutation_p.R1061T	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1103					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTCTGCCCCAGAGGCAGAACG	0.602000													6	22					0	0	0.001168	0	0
TDRD7	23424	broad.mit.edu	37	9	100222478	100222478	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr9:100222478G>T	ENST00000355295.4	+	7	1169	c.874G>T	c.(874-876)Ggt>Tgt	p.G292C	TDRD7_ENST00000422139.2_Missense_Mutation_p.G218C	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	292	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ACCTTGCAGTGGTGGCCAAGA	0.378000													10	38					4.68919e-08	1.91996e-07	0.008291	1	0
GATA3	2625	broad.mit.edu	37	10	8100734	8100734	+	Silent	SNP	C	C	A	rs143582578		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:8100734C>A	ENST00000379328.3	+	3	1276	c.708C>A	c.(706-708)ccC>ccA	p.P236P	GATA3_ENST00000346208.3_Silent_p.P236P|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	236					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCTTCCCCCCCAGCAGCCTGC	0.682000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						18	25					1.01871e-10	4.44255e-10	0.008871	1	0
LOC440040	440040	broad.mit.edu	37	11	49597894	49597894	+	RNA	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:49597894G>A	ENST00000527477.1	+	0	498																											TCACATGCTGGGTGACATCAT	0.493000													10	20					0	0	0.008291	0	0
SIDT2	51092	broad.mit.edu	37	11	117052527	117052527	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:117052527C>G	ENST00000324225.4	+	3	841	c.310C>G	c.(310-312)Cag>Gag	p.Q104E	SIDT2_ENST00000431081.2_Missense_Mutation_p.Q104E|SIDT2_ENST00000530948.1_3'UTR	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	104						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCATAGGTTTCAGCGCAAGTA	0.592000											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	46					0	0	0.006320	0	0
MEF2C	4208	broad.mit.edu	37	5	88018719	88018719	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:88018719G>C	ENST00000504921.2	-	10	1796	c.1124C>G	c.(1123-1125)tCt>tGt	p.S375C	MEF2C_ENST00000340208.5_Missense_Mutation_p.S385C|MEF2C_ENST00000424173.2_Missense_Mutation_p.S365C|MEF2C_ENST00000514028.1_Missense_Mutation_p.S375C|MEF2C_ENST00000539796.1_Missense_Mutation_p.S319C|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000514015.1_Intron|MEF2C_ENST00000437473.2_Missense_Mutation_p.S375C|MEF2C_ENST00000510942.1_Missense_Mutation_p.S367C			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	375	Transcription repressor.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGAACTCTGAGATAAATGAGT	0.478000										HNSCC(66;0.2)			5	8					0	0	0.000602	0	0
CDH11	1009	broad.mit.edu	37	16	65016141	65016141	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:65016141C>G	ENST00000394156.3	-	8	1516	c.1063G>C	c.(1063-1065)Gac>Cac	p.D355H	CDH11_ENST00000268603.4_Missense_Mutation_p.D355H|CDH11_ENST00000566827.1_Missense_Mutation_p.D229H			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	355	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AACTTCGGGTCGATGTGCACG	0.468000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			18	78					0	0	0.006122	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31803001	31803001	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr21:31803001C>A	ENST00000334068.2	+	1	430	c.408C>A	c.(406-408)taC>taA	p.Y136*		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	136						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						ACCCAAACTACTTGGCTTCTG	0.458000													38	26					9.85521e-28	4.94101e-27	0.006230	1	0
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2																						CTCTTGTACTAGAAACAGACC	0.552000													7	76					0	0	0.004482	0	0
C11orf68	83638	broad.mit.edu	37	11	65685263	65685263	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:65685263G>A	ENST00000438576.2	-	2	634	c.549C>T	c.(547-549)caC>caT	p.H183H	C11orf68_ENST00000530188.1_Silent_p.H141H|C11orf68_ENST00000449692.3_Silent_p.H182H			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	141										large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		CAGCCCAGGCGTGGTCCAGCT	0.657000													12	35					0	0	0.001368	0	0
ZNF667	63934	broad.mit.edu	37	19	56953438	56953438	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:56953438G>T	ENST00000504904.3	-	7	1645	c.926C>A	c.(925-927)cCt>cAt	p.P309H	ZNF667_ENST00000292069.6_Missense_Mutation_p.P309H|ZNF667_ENST00000342634.3_Missense_Mutation_p.P437H|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CGCATTTTCAGGGATTTTCTC	0.328000													26	77					6.07407e-21	2.92588e-20	0.007291	1	0
PNLIPRP2	5408	broad.mit.edu	37	10	118386435	118386435	+	RNA	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:118386435G>T	ENST00000537242.1	+	0	417				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CGGGTCCCGGGCAATGTACAC	0.502000													6	17					0.000157383	0.000591793	0.003080	1	0
COL24A1	255631	broad.mit.edu	37	1	86200620	86200620	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:86200620T>C	ENST00000370571.2	-	59	5176	c.4810A>G	c.(4810-4812)Atg>Gtg	p.M1604V	COL24A1_ENST00000436319.1_Missense_Mutation_p.M1583V	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1604	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGGAAGTTCATCTGGACTTTC	0.433000													16	38					0	0	0.004007	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950335	235950335	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:235950335G>T	ENST00000409212.1	+	4	1429	c.922G>T	c.(922-924)Ggt>Tgt	p.G308C	SH3BP4_ENST00000392011.2_Missense_Mutation_p.G308C|SH3BP4_ENST00000344528.4_Missense_Mutation_p.G308C			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	308					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCAAAGCCCTGGTTGGGGCCA	0.592000													19	47					4.63292e-17	2.13404e-16	0.008871	1	0
ERBB4	2066	broad.mit.edu	37	2	212543814	212543814	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:212543814C>A	ENST00000342788.4	-	13	1895	c.1585G>T	c.(1585-1587)Gga>Tga	p.G529*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.G529*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.G529*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	529	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGATCCTTCCTCTACTGAAG	0.498000										TSP Lung(8;0.080)			8	22					0.000157383	0.000591793	0.003080	1	0
MTF2	22823	broad.mit.edu	37	1	93602558	93602558	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:93602558G>C	ENST00000370298.4	+	15	2045	c.1756G>C	c.(1756-1758)Gaa>Caa	p.E586Q	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Missense_Mutation_p.E484Q|MTF2_ENST00000370303.4_Missense_Mutation_p.E529Q|MTF2_ENST00000545708.1_Missense_Mutation_p.E484Q	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	586						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GTATCTTGTGGAATGGGAAGG	0.458000													18	35					0	0	0.007413	0	0
CSN2	1447	broad.mit.edu	37	4	70823388	70823388	+	Silent	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:70823388G>T	ENST00000353151.3	-	5	290	c.279C>A	c.(277-279)gtC>gtA	p.V93V		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	93					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						CAGGCTGAGGGACAGGCAGCA	0.473000													13	62					1.36491e-13	6.05988e-13	0.001855	1	0
ZEB2	9839	broad.mit.edu	37	2	145147514	145147514	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:145147514G>C	ENST00000558170.2	-	10	4333	c.3149C>G	c.(3148-3150)tCg>tGg	p.S1050W	ZEB2_ENST00000303660.4_Missense_Mutation_p.S1050W|ZEB2_ENST00000539609.3_Missense_Mutation_p.S1026W|ZEB2_ENST00000409487.3_Missense_Mutation_p.S1050W	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1050						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTTCTCGCCCGAGTGAAGCCT	0.483000													5	60					0	0	0.000602	0	0
CUBN	8029	broad.mit.edu	37	10	17142173	17142173	+	Silent	SNP	A	A	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:17142173A>C	ENST00000377833.4	-	14	1661	c.1596T>G	c.(1594-1596)ctT>ctG	p.L532L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	532	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATAAACCTGAAGAAACTCGT	0.413000													16	34					0	0	0.008871	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736659	12736659	+	Silent	SNP	G	G	T	rs148954983	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:12736659G>T	ENST00000380682.1	+	16	4220	c.3714G>T	c.(3712-3714)ccG>ccT	p.P1238P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1238					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGGAGTCGCCGCTCTGCCCCT	0.602000													40	12					3.09479e-21	1.5105e-20	0.006999	1	0
SH3BP4	23677	broad.mit.edu	37	2	235950336	235950336	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:235950336G>T	ENST00000409212.1	+	4	1430	c.923G>T	c.(922-924)gGt>gTt	p.G308V	SH3BP4_ENST00000392011.2_Missense_Mutation_p.G308V|SH3BP4_ENST00000344528.4_Missense_Mutation_p.G308V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	308					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAAAGCCCTGGTTGGGGCCAG	0.592000													19	47					7.21436e-19	3.43031e-18	0.008871	1	0
EID2B	126272	broad.mit.edu	37	19	40023356	40023356	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:40023356G>A	ENST00000326282.4	-	1	138	c.87C>T	c.(85-87)agC>agT	p.S29S	CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_Intron	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	29					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGTACGTCGCTGACGCCAC	0.706000											OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	8					0	0	0.008291	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77327096	77327096	+	Silent	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:77327096G>C	ENST00000282849.5	-	20	3484	c.3066C>G	c.(3064-3066)gcC>gcG	p.A1022A		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1022	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGTTTCTGCGGCAGAGCCCT	0.557000													46	39					0	0	0.003610	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277410	131277410	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:131277410C>A	ENST00000337057.3	-	2	397	c.216G>T	c.(214-216)agG>agT	p.R72S	EPB41L2_ENST00000445890.2_Missense_Mutation_p.R72S|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R72S|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R72S	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	72					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GAGAAATACCCCTGCTCTCCG	0.498000													35	70					3.76114e-14	1.69022e-13	0.004289	1	0
ABCB1	5243	broad.mit.edu	37	7	87179361	87179361	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:87179361C>T	ENST00000265724.3	-	14	1777	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	ABCB1_ENST00000543898.1_Missense_Mutation_p.D390N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	454	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCCTGTCCATCAACACTGACC	0.413000													44	54					0	0	0.008740	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459366	92459366	+	Silent	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:92459366G>T	ENST00000318445.6	+	2	538	c.324G>T	c.(322-324)ctG>ctT	p.L108L	SLCO3A1_ENST00000424469.2_Silent_p.L108L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	108					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.L108L(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCCGCGCCTGATCGGCTGCG	0.682000													9	15					7.48243e-07	2.99704e-06	0.006214	1	0
CDH6	1004	broad.mit.edu	37	5	31323131	31323131	+	Missense_Mutation	SNP	C	C	A	rs149310360		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:31323131C>A	ENST00000265071.2	+	12	2354	c.2089C>A	c.(2089-2091)Ctt>Att	p.L697I		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	697					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.L697F(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCCGAAGCCCTTTTCCTACC	0.522000													26	41					1.2476e-16	5.6758e-16	0.006320	1	0
REG1B	5968	broad.mit.edu	37	2	79313964	79313964	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:79313964C>T	ENST00000305089.3	-	3	237	c.157G>A	c.(157-159)Gac>Aac	p.D53N		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	53	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GTCTCAGGGTCTTCATTAAAG	0.537000													29	184					0	0	0.001786	0	0
MTMR2	8898	broad.mit.edu	37	11	95580901	95580901	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:95580901T>C	ENST00000393223.3	-	12	1602	c.940A>G	c.(940-942)Act>Gct	p.T314A	MTMR2_ENST00000352297.7_Missense_Mutation_p.T314A|MTMR2_ENST00000346299.5_Missense_Mutation_p.T386A|MTMR2_ENST00000409459.1_Missense_Mutation_p.T314A	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	386	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCCAATGAGTAGATTCCAAG	0.358000													22	65					0	0	0.002780	0	0
STK36	27148	broad.mit.edu	37	2	219553529	219553529	+	Missense_Mutation	SNP	G	G	C	rs150496187	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:219553529G>C	ENST00000295709.3	+	12	1769	c.1490G>C	c.(1489-1491)cGg>cCg	p.R497P	STK36_ENST00000440309.1_Missense_Mutation_p.R497P|STK36_ENST00000392105.3_Missense_Mutation_p.R497P|STK36_ENST00000392106.2_Missense_Mutation_p.R497P	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	497					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TCCTTCTGCCGGGAGGCAGGG	0.587000													41	31					0	0	0.006230	0	0
CHP1	11261	broad.mit.edu	37	15	41549177	41549177	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:41549177C>T	ENST00000334660.5	+	3	450	c.210C>T	c.(208-210)ttC>ttT	p.F70F	CHP1_ENST00000560397.1_Silent_p.F70F|CHP1_ENST00000558351.1_3'UTR	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	70	EF-hand 2.				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity										TCAATGCCTTCTTTCCAGAGG	0.458000													16	39					0	0	0.006122	0	0
FRZB	2487	broad.mit.edu	37	2	183699618	183699618	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:183699618C>A	ENST00000295113.4	-	6	1545	c.936G>T	c.(934-936)caG>caT	p.Q312H		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	312	Ser-rich.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGCCAGACTTCTGACTCTGAG	0.413000													34	25					1.21669e-08	5.15346e-08	0.003271	1	0
STOX2	56977	broad.mit.edu	37	4	184931953	184931953	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:184931953G>A	ENST00000308497.4	+	3	3397	c.1962G>A	c.(1960-1962)aaG>aaA	p.K654K	STOX2_ENST00000438269.1_Silent_p.K654K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	654					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TGGGGCACAAGGAGGAGTCAC	0.637000													8	10					0	0	0.006214	0	0
ZNF418	147686	broad.mit.edu	37	19	58437946	58437946	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:58437946C>T	ENST00000396147.1	-	4	1894	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	ZNF418_ENST00000425570.3_Missense_Mutation_p.E556K|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.E535K|ZNF418_ENST00000599852.1_Missense_Mutation_p.E450K	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TAAGGCCTTTCTCCAGTATGA	0.448000													15	51					0	0	0.003163	0	0
COLEC11	78989	broad.mit.edu	37	2	3691061	3691061	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:3691061G>A	ENST00000403096.3	+	5	769	c.278G>A	c.(277-279)cGc>cAc	p.R93H	COLEC11_ENST00000418971.2_Missense_Mutation_p.R133H|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Missense_Mutation_p.R45H|COLEC11_ENST00000402922.1_Missense_Mutation_p.R69H|COLEC11_ENST00000382062.2_Missense_Mutation_p.R95H|COLEC11_ENST00000349077.4_Missense_Mutation_p.R119H|COLEC11_ENST00000236693.7_Missense_Mutation_p.R116H|COLEC11_ENST00000402794.1_Missense_Mutation_p.R69H	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	119	Collagen-like.					collagen	mannose binding	p.R133H(1)|p.R116H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		AGCCAGCTGCGCAAGGCCATC	0.637000													34	56					0	0	0.004289	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460045	113460045	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:113460045C>T	ENST00000538576.1	-	4	1814	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	SLC16A1_ENST00000433570.4_Missense_Mutation_p.R328Q|SLC16A1_ENST00000369626.3_Missense_Mutation_p.R328Q	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	328					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	ATACTGAATTCGAGGTCTTAT	0.453000													8	24					0	0	0.003080	0	0
ANK2	287	broad.mit.edu	37	4	114277887	114277887	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:114277887C>T	ENST00000357077.4	+	38	8166	c.8113C>T	c.(8113-8115)Cca>Tca	p.P2705S	ANK2_ENST00000264366.6_Missense_Mutation_p.P2672S|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2672					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAATTCCAGTCCAGAAGAAGT	0.423000													47	40					0	0	0.003610	0	0
TDRD7	23424	broad.mit.edu	37	9	100222479	100222479	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr9:100222479G>T	ENST00000355295.4	+	7	1170	c.875G>T	c.(874-876)gGt>gTt	p.G292V	TDRD7_ENST00000422139.2_Missense_Mutation_p.G218V	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	292	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CCTTGCAGTGGTGGCCAAGAT	0.373000													10	37					4.68919e-08	1.91996e-07	0.008291	1	0
RYR1	6261	broad.mit.edu	37	19	38979900	38979900	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:38979900G>T	ENST00000355481.4	+	35	5762	c.5631G>T	c.(5629-5631)gaG>gaT	p.E1877D	RYR1_ENST00000360985.3_Missense_Mutation_p.E1877D|RYR1_ENST00000359596.3_Missense_Mutation_p.E1877D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1877	6 X approximate repeats.|Glu-rich (acidic).				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	aagaagaggaggaggacgagg	0.493000													7	20					2.0095e-06	7.87766e-06	0.001984	1	0
GPR116	221395	broad.mit.edu	37	6	46849211	46849211	+	Silent	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:46849211G>T	ENST00000283296.7	-	8	1083	c.795C>A	c.(793-795)tcC>tcA	p.S265S	GPR116_ENST00000456426.2_Silent_p.S265S|GPR116_ENST00000362015.4_Silent_p.S265S|GPR116_ENST00000265417.7_Silent_p.S265S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	265	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTGCTTGAAAGGAGTTGTAGT	0.353000													18	43					5.35267e-07	2.15569e-06	0.007413	1	0
C1S	716	broad.mit.edu	37	12	7175808	7175808	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:7175808G>A	ENST00000406697.1	+	14	1872	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	C1S_ENST00000402681.3_Missense_Mutation_p.G248D|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.G415D|C1S_ENST00000328916.3_Missense_Mutation_p.G415D			P09871	C1S_HUMAN	complement component 1, s subcomponent	415	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAGGTGCTGGGCCCGGAGCTG	0.547000													74	76					0	0	0.003610	0	0
FOXJ3	22887	broad.mit.edu	37	1	42660589	42660589	+	Silent	SNP	T	T	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:42660589T>G	ENST00000372572.1	-	10	1217	c.906A>C	c.(904-906)tcA>tcC	p.S302S	FOXJ3_ENST00000372573.1_Silent_p.S302S|FOXJ3_ENST00000361776.1_Silent_p.S268S|FOXJ3_ENST00000361346.1_Silent_p.S302S|FOXJ3_ENST00000545068.1_Silent_p.S302S	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	302					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTCAAAAACTGACTTATAAA	0.323000													47	100					0	0	0.003610	0	0
MYH15	22989	broad.mit.edu	37	3	108211382	108211382	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:108211382A>T	ENST00000273353.3	-	10	952	c.896T>A	c.(895-897)tTc>tAc	p.F299Y		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	299	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AATTTGATAGAATATGTGGTA	0.373000													7	20					0	0	0.006214	0	0
TTC40	54777	broad.mit.edu	37	10	134626342	134626342	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:134626342T>C	ENST00000368586.5	-	55	7548	c.7448A>G	c.(7447-7449)gAg>gGg	p.E2483G	TTC40_ENST00000263170.5_Missense_Mutation_p.E644G	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	644										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGGAAGCTCTCCATTCCATA	0.592000													30	70					0	0	0.002096	0	0
SLC35D1	23169	broad.mit.edu	37	1	67518538	67518538	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:67518538C>T	ENST00000235345.5	-	3	325	c.240G>A	c.(238-240)atG>atA	p.M80I	SLC35D1_ENST00000506472.2_Start_Codon_SNP_p.M1I	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	80					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	CTGTGGCCACCATCTGTAAAC	0.433000													25	68					0	0	0.004656	0	0
TUBB4B	10383	broad.mit.edu	37	9	140137531	140137531	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr9:140137531C>T	ENST00000340384.4	+	4	1009	c.861C>T	c.(859-861)ccC>ccT	p.P287P		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	287					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										TGACCGTGCCCGAGCTCACCC	0.657000													41	36					0	0	0.008740	0	0
TTN	7273	broad.mit.edu	37	2	179532239	179532239	+	Silent	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:179532239G>C	ENST00000589042.1	-	161	35867	c.35643C>G	c.(35641-35643)ccC>ccG	p.P11881P	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10020	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACTTTCTTGGGTGGCTCAG	0.308000													13	13					0	0	0.001855	0	0
UBXN2B	137886	broad.mit.edu	37	8	59358527	59358527	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:59358527A>C	ENST00000399598.2	+	7	855	c.733A>C	c.(733-735)Aat>Cat	p.N245H		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	245						cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						ATCAATACTTAATGCAGTTGT	0.353000													17	47					0	0	0.004990	0	0
TFB2M	64216	broad.mit.edu	37	1	246729395	246729395	+	Missense_Mutation	SNP	C	C	A	rs143392079	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:246729395C>A	ENST00000366514.4	-	1	231	c.46G>T	c.(46-48)Gcc>Tcc	p.A16S	TFB2M_ENST00000544618.1_Missense_Mutation_p.A16S	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	16					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			CCCGCCAAGGCGGAGAGCCTC	0.602000													21	22					1.5548e-18	7.29865e-18	0.005443	1	0
NCAM2	4685	broad.mit.edu	37	21	22838935	22838935	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr21:22838935G>T	ENST00000400546.1	+	13	1912	c.1663G>T	c.(1663-1665)Gtt>Ttt	p.V555F	NCAM2_ENST00000284894.7_Missense_Mutation_p.V413F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	555	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGCAATGGTTGTTTTGAACAA	0.294000													5	10					1.024e-07	4.16955e-07	0.000602	1	0
PIP5K1A	8394	broad.mit.edu	37	1	151206795	151206795	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:151206795G>A	ENST00000409426.1	+	7	1171	c.726G>A	c.(724-726)atG>atA	p.M242I	PIP5K1A_ENST00000368890.4_Missense_Mutation_p.M241I|PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.M254I|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.M242I			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	254	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGGTAAAAATGCATATCAAAT	0.443000													17	50					0	0	0.004990	0	0
UNC5C	8633	broad.mit.edu	37	4	96124103	96124103	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:96124103C>A	ENST00000453304.1	-	12	2263	c.1915G>T	c.(1915-1917)Gtc>Ttc	p.V639F		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	639					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCTCCCCGACCACCACCACA	0.602000													20	16					0.000132079	0.000501764	0.008871	1	0
ECE2	9718	broad.mit.edu	37	3	184002873	184002873	+	Silent	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:184002873C>A	ENST00000402825.3	+	9	1482	c.1482C>A	c.(1480-1482)ctC>ctA	p.L494L	ECE2_ENST00000359140.4_Silent_p.L347L|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Silent_p.L422L|ECE2_ENST00000404464.3_Silent_p.L376L	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	494	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTCAGAGCTCATCAACCGCA	0.562000											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	125					1.9806e-07	8.02033e-07	0.002299	1	0
FCGR3A	2214	broad.mit.edu	37	1	161518311	161518311	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:161518311G>T	ENST00000367969.3	-	3	510	c.327C>A	c.(325-327)agC>agA	p.S109R	FCGR3A_ENST00000540048.1_Missense_Mutation_p.S73R|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Missense_Mutation_p.S108R|FCGR3A_ENST00000436743.1_Missense_Mutation_p.S73R	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	73	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAATGAAGTAGCTCGAGGCCT	0.552000													62	249					3.57465e-26	1.78008e-25	0.003610	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153318647	153318647	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:153318647T>C	ENST00000368739.3	-	3	428	c.70A>G	c.(70-72)Aca>Gca	p.T24A	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.T24A|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	24					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTAGCTTGTGTTTTGTTCCAG	0.463000													100	73					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179664292	179664292	+	Missense_Mutation	SNP	C	C	T	rs151174349		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:179664292C>T	ENST00000589042.1	-	6	1060	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	TTN_ENST00000460472.2_Missense_Mutation_p.R279Q|TTN_ENST00000359218.5_Missense_Mutation_p.R279Q|TTN_ENST00000342175.6_Missense_Mutation_p.R279Q|TTN_ENST00000342992.6_Missense_Mutation_p.R279Q|TTN_ENST00000591111.1_Missense_Mutation_p.R279Q|TTN_ENST00000360870.5_Missense_Mutation_p.R279Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	279	ZIS1.		R -> W (in HMERF; disrupts NBR1-binding).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R279L(6)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGACTGCTGCCGAGCCAGCTG	0.592000													15	44					0	0	0.002450	0	0
VPS39	23339	broad.mit.edu	37	15	42465981	42465981	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:42465981T>G	ENST00000318006.5	-	11	1192	c.1030A>C	c.(1030-1032)Aac>Cac	p.N344H	VPS39_ENST00000348544.4_Missense_Mutation_p.N355H	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	355					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CAGAAGAGGTTGAAGGCATAC	0.408000													46	41					0	0	0.003214	0	0
USP18	11274	broad.mit.edu	37	22	18650683	18650683	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr22:18650683G>A	ENST00000215794.7	+	6	937	c.507G>A	c.(505-507)acG>acA	p.T169T		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	169			T -> M (in dbSNP:rs3180408).		regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						CCCTGTATACGATCCGGGTGA	0.547000													35	37					0	0	0.003755	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	29					0	0	0.000248	0	0
DCTN1	1639	broad.mit.edu	37	2	74607154	74607154	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:74607154C>A	ENST00000361874.3	-	1	328	c.11G>T	c.(10-12)aGc>aTc	p.S4I	DCTN1_ENST00000409567.3_Missense_Mutation_p.S4I|DCTN1_ENST00000394003.3_Missense_Mutation_p.S4I|DCTN1_ENST00000409240.1_Intron|DCTN1_ENST00000409868.1_Intron	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	4					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTGCCTCTTGCTCTGTGCCAT	0.627000													24	14					3.28513e-13	1.44978e-12	0.003954	1	0
AOX1	316	broad.mit.edu	37	2	201460091	201460091	+	Splice_Site	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:201460091G>A	ENST00000374700.2	+	3	441	c.200_splice	c.e3+1	p.R67_splice		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	67	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AAGAGGATAAGGTACCGTGCA	0.403000													18	16					0	0	0.006122	0	0
SMCHD1	23347	broad.mit.edu	37	18	2738442	2738442	+	Silent	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:2738442G>T	ENST00000320876.6	+	26	3662	c.3324G>T	c.(3322-3324)ctG>ctT	p.L1108L	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.L1108L	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1108					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TACAGGGTCTGCTTCCTGATG	0.373000													34	10					8.16721e-17	3.73865e-16	0.002096	1	0
MED13	9969	broad.mit.edu	37	17	60112835	60112835	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:60112835C>T	ENST00000397786.2	-	4	681	c.605G>A	c.(604-606)aGc>aAc	p.S202N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	202					androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGAAATGGGCTATTAGACTG	0.338000													10	45					0	0	0.006214	0	0
CYTL1	54360	broad.mit.edu	37	4	5016894	5016894	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:5016894G>A	ENST00000307746.4	-	4	421	c.395C>T	c.(394-396)cCa>cTa	p.P132L		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	132					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CTGACGATCTGGCAGGACCGT	0.483000													4	28					0	0	0.000602	0	0
NLGN1	22871	broad.mit.edu	37	3	173322785	173322785	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:173322785G>T	ENST00000457714.1	+	3	826	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L	NLGN1_ENST00000401917.3_Missense_Mutation_p.V133L|NLGN1_ENST00000361589.4_Missense_Mutation_p.V133L|NLGN1_ENST00000545397.1_Missense_Mutation_p.V133L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	133					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CATGCTTCCTGTGTGGTTTAC	0.433000													144	73					3.38734e-80	1.74578e-79	0.003610	1	0
PAK3	5063	broad.mit.edu	37	X	110435821	110435821	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:110435821C>A	ENST00000519681.1	+	14	1472	c.1030C>A	c.(1030-1032)Cct>Act	p.P344T	PAK3_ENST00000446737.1_Missense_Mutation_p.P323T|PAK3_ENST00000372010.1_Missense_Mutation_p.P338T|PAK3_ENST00000417227.1_Missense_Mutation_p.P344T|PAK3_ENST00000262836.4_Missense_Mutation_p.P338T|PAK3_ENST00000360648.4_Missense_Mutation_p.P359T|PAK3_ENST00000518291.1_Missense_Mutation_p.P359T|PAK3_ENST00000372007.4_Missense_Mutation_p.P323T|PAK3_ENST00000425146.1_Missense_Mutation_p.P323T			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	338	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAATAAGAACCCTAATATTGT	0.313000										TSP Lung(19;0.15)			6	6					0.00116845	0.00430572	0.001168	1	0
STAT2	6773	broad.mit.edu	37	12	56740685	56740685	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:56740685G>A	ENST00000314128.4	-	20	1802	c.1779C>T	c.(1777-1779)acC>acT	p.T593T	STAT2_ENST00000557235.1_Silent_p.T589T|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	593	SH2.				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGCCAGACATGGTCTTCTTCA	0.602000													50	57					0	0	0.003610	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745732	77745732	+	Silent	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:77745732T>C	ENST00000409088.3	-	3	1677	c.1263A>G	c.(1261-1263)tcA>tcG	p.S421S	LRRTM4_ENST00000409911.1_Silent_p.S422S|LRRTM4_ENST00000409884.1_Silent_p.S421S|LRRTM4_ENST00000409093.1_Silent_p.S421S|LRRTM4_ENST00000409282.1_Silent_p.S422S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	421						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTTTGTGAAATGAAACATGCT	0.493000													45	83					0	0	0.003610	0	0
DIP2A	23181	broad.mit.edu	37	21	47971570	47971570	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr21:47971570G>T	ENST00000318711.7	+	24	3049	c.2866G>T	c.(2866-2868)Gtg>Ttg	p.V956L	DIP2A_ENST00000427143.2_Missense_Mutation_p.V891L|DIP2A_ENST00000417564.2_Missense_Mutation_p.V955L|DIP2A_ENST00000400274.1_Missense_Mutation_p.V951L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	955					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTCAATGATCGTGGGGAACCT	0.507000													14	13					1.05317e-09	4.48663e-09	0.002450	1	0
MYO1E	4643	broad.mit.edu	37	15	59445837	59445837	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:59445837G>A	ENST00000288235.4	-	26	3431	c.3032C>T	c.(3031-3033)aCg>aTg	p.T1011M		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	1011					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GCTCTCTGGCGTCTGTGACAC	0.582000													29	68					0	0	0.001786	0	0
CYP1B1	1545	broad.mit.edu	37	2	38301665	38301665	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:38301665G>A	ENST00000260630.3	-	2	1268	c.867C>T	c.(865-867)ccC>ccT	p.P289P	CYP1B1_ENST00000407341.1_Silent_p.P289P|CYP1B1_ENST00000494864.1_Intron	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	289					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	TCATGTcgcggggggcggccc	0.622000													19	9					0	0	0.006122	0	0
RAD51C	5889	broad.mit.edu	37	17	56770057	56770057	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:56770057C>G	ENST00000337432.4	+	1	124	c.53C>G	c.(52-54)cCg>cGg	p.P18R	RAD51C_ENST00000487921.1_Intron|RAD51C_ENST00000421782.2_Missense_Mutation_p.P18R|RAD51C_ENST00000583539.1_Missense_Mutation_p.P18R	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	18					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGAGTTTCCCGCTGTCTCCA	0.602000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				20	68					0	0	0.008871	0	0
ABCA3	21	broad.mit.edu	37	16	2339465	2339465	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:2339465C>T	ENST00000301732.5	-	20	3370	c.2670G>A	c.(2668-2670)gaG>gaA	p.E890E	ABCA3_ENST00000382381.3_Silent_p.E832E	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	890					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGGTGCGCTCCTCCTCGATGA	0.677000													10	4					0	0	0.000978	0	0
C20orf196	149840	broad.mit.edu	37	20	5753649	5753649	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr20:5753649G>A	ENST00000303142.6	+	2	225	c.138G>A	c.(136-138)ttG>ttA	p.L46L	C20orf196_ENST00000378979.4_Silent_p.L46L	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	46										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						TCAGTTCTTTGGAATTCCATT	0.443000													28	121					0	0	0.008361	0	0
TMEM132E	124842	broad.mit.edu	37	17	32953598	32953598	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:32953598C>T	ENST00000321639.5	+	2	848	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	174						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCGGGATGCCCGGGAAGTCAA	0.716000													15	12					0	0	0.004007	0	0
EMC3	55831	broad.mit.edu	37	3	10050254	10050254	+	RNA	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:10050254G>C	ENST00000383808.2	-	0	524																											AGCAGGGTCAGATAGtggggg	0.592000													12	20					0	0	0.001368	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762658	130762658	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:130762658C>G	ENST00000392429.1	+	2	3469	c.1091C>G	c.(1090-1092)gCt>gGt	p.A364G	TMEM200A_ENST00000545622.1_Missense_Mutation_p.A364G|TMEM200A_ENST00000296978.3_Missense_Mutation_p.A364G	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	364						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCATCTATGGCTCTCGGACCT	0.527000													17	30					0	0	0.004990	0	0
CSN2	1447	broad.mit.edu	37	4	70823387	70823387	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:70823387G>T	ENST00000353151.3	-	5	291	c.280C>A	c.(280-282)Cct>Act	p.P94T		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	94					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TCAGGCTGAGGGACAGGCAGC	0.473000													13	63					1.36491e-13	6.05988e-13	0.001855	1	0
CHD7	55636	broad.mit.edu	37	8	61764637	61764637	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:61764637C>A	ENST00000423902.2	+	29	6204	c.5725C>A	c.(5725-5727)Ctg>Atg	p.L1909M	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1909					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CACTTCAACCCTGACTACACG	0.498000													13	21					1.05317e-09	4.48663e-09	0.002450	1	0
DOCK2	1794	broad.mit.edu	37	5	169446055	169446055	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:169446055A>G	ENST00000256935.8	+	33	3404	c.3324A>G	c.(3322-3324)atA>atG	p.I1108M	DOCK2_ENST00000540750.1_Missense_Mutation_p.I169M|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.I600M	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1108	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGCCACCATACCAATCTTCT	0.453000													115	42					0	0	0.003610	0	0
AMBRA1	55626	broad.mit.edu	37	11	46439569	46439569	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:46439569C>A	ENST00000458649.2	-	15	3428	c.3010G>T	c.(3010-3012)Gac>Tac	p.D1004Y	AMBRA1_ENST00000528950.1_Missense_Mutation_p.D975Y|AMBRA1_ENST00000298834.3_Missense_Mutation_p.D944Y|AMBRA1_ENST00000534300.1_Missense_Mutation_p.D944Y|AMBRA1_ENST00000533727.1_Missense_Mutation_p.D885Y|AMBRA1_ENST00000314845.3_Missense_Mutation_p.D914Y|AMBRA1_ENST00000426438.1_Missense_Mutation_p.D975Y			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1004					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTCCGCTGGTCGGCAGGCATG	0.488000													21	44					3.5997e-14	1.62759e-13	0.002299	1	0
C11orf30	56946	broad.mit.edu	37	11	76253279	76253279	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:76253279C>T	ENST00000529032.1	+	17	2577	c.2577C>T	c.(2575-2577)ccC>ccT	p.P859P	C11orf30_ENST00000533248.1_Silent_p.P768P|C11orf30_ENST00000525038.1_Silent_p.P860P|C11orf30_ENST00000334736.3_Silent_p.P859P|C11orf30_ENST00000525919.1_Silent_p.P860P|C11orf30_ENST00000524767.1_Silent_p.P874P|C11orf30_ENST00000524490.1_Silent_p.P761P|C11orf30_ENST00000343878.3_Silent_p.P859P			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	859					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCTCCCAGCCCCAACAGCCTT	0.517000													92	85					0	0	0.003610	0	0
IQSEC3	440073	broad.mit.edu	37	12	266231	266231	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:266231G>A	ENST00000538872.1	+	6	2312	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N	IQSEC3_ENST00000326261.4_Missense_Mutation_p.D732N|IQSEC3_ENST00000382841.2_Missense_Mutation_p.D429N			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	732	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CATGGAGCTGGACGAGGCCCT	0.637000													6	11					0	0	0.001168	0	0
LPHN3	23284	broad.mit.edu	37	4	62812754	62812754	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:62812754C>G	ENST00000512091.1	+	15	3085	c.2338C>G	c.(2338-2340)Cct>Gct	p.P780A	LPHN3_ENST00000514591.1_Missense_Mutation_p.P780A|LPHN3_ENST00000507625.1_Missense_Mutation_p.P848A|LPHN3_ENST00000508946.1_Missense_Mutation_p.P780A|LPHN3_ENST00000506700.1_Missense_Mutation_p.P780A|LPHN3_ENST00000506720.1_Missense_Mutation_p.P848A|LPHN3_ENST00000514996.1_Missense_Mutation_p.P780A|LPHN3_ENST00000514157.1_Missense_Mutation_p.P780A|LPHN3_ENST00000507164.1_Missense_Mutation_p.P848A|LPHN3_ENST00000511324.1_Missense_Mutation_p.P848A|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000506746.1_Missense_Mutation_p.P848A|LPHN3_ENST00000508693.1_Missense_Mutation_p.P848A|LPHN3_ENST00000504896.1_Missense_Mutation_p.P780A|LPHN3_ENST00000545650.1_Missense_Mutation_p.P780A|LPHN3_ENST00000509896.1_Missense_Mutation_p.P848A			Q9HAR2	LPHN3_HUMAN	latrophilin 3	767					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTCAATTCCCCTGTTATTAC	0.383000													33	121					0	0	0.002836	0	0
CDH10	1008	broad.mit.edu	37	5	24511543	24511543	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:24511543C>A	ENST00000264463.4	-	6	1402	c.895G>T	c.(895-897)Ggg>Tgg	p.G299W		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	299	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCATTTTTCCCAGTGTCAGCA	0.423000										HNSCC(23;0.051)			19	84					9.7654e-05	0.000372907	0.007413	1	0
UGT2B28	54490	broad.mit.edu	37	4	70156309	70156309	+	Splice_Site	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:70156309G>A	ENST00000335568.5	+	5	1092		c.e5-1		UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28						xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TCCAATCCTAGGTCTTCCAAA	0.368000													29	59					0	0	0.008740	0	0
COL28A1	340267	broad.mit.edu	37	7	7412808	7412808	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:7412808C>T	ENST00000399429.3	-	32	2869	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	910	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTTTATCACGAGAATCTGT	0.453000													17	37					0	0	0.006122	0	0
PTPN12	5782	broad.mit.edu	37	7	77212881	77212881	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:77212881G>A	ENST00000248594.6	+	4	567	c.295G>A	c.(295-297)Ggg>Agg	p.G99R	PTPN12_ENST00000415482.2_5'UTR|PTPN12_ENST00000435495.2_Intron	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	99	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GGGCGTCTATGGGCCAAAAGC	0.299000													18	27					0	0	0.007413	0	0
TCEB1	6921	broad.mit.edu	37	8	74858964	74858964	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:74858964C>T	ENST00000518127.1	-	4	332	c.240G>A	c.(238-240)aaG>aaA	p.K80K	TCEB1_ENST00000523815.1_Silent_p.K80K|TCEB1_ENST00000522337.1_Silent_p.K80K|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000519487.1_Silent_p.K80K|TCEB1_ENST00000520210.1_Silent_p.K64K|TCEB1_ENST00000520242.1_Silent_p.K80K|TCEB1_ENST00000284811.8_Silent_p.K80K	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	80					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TGTAGCGAACCTTGTACGTAA	0.413000													18	20					0	0	0.007413	0	0
ZNF502	91392	broad.mit.edu	37	3	44763729	44763729	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:44763729C>T	ENST00000296091.4	+	4	1676	c.1420C>T	c.(1420-1422)Cat>Tat	p.H474Y	ZNF502_ENST00000436624.2_Missense_Mutation_p.H474Y|ZNF502_ENST00000449836.1_Missense_Mutation_p.H474Y	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		AGCCTTTGCTCATAGCTCATC	0.418000													12	19					0	0	0.000978	0	0
LILRB5	10990	broad.mit.edu	37	19	54758761	54758761	+	Silent	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:54758761C>G	ENST00000450632.1	-	6	1142	c.1065G>C	c.(1063-1065)ccG>ccC	p.P355P	LILRB5_ENST00000449561.2_Silent_p.P364P|LILRB5_ENST00000316219.5_Silent_p.P364P|LILRB5_ENST00000345866.6_Silent_p.P264P			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	364	Ig-like C2-type 4.			L -> S (in Ref. 2; BAB71361).	cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTAGACACAGCGGGGGATGGG	0.547000													36	21					0	0	0.004878	0	0
RYR2	6262	broad.mit.edu	37	1	237540685	237540685	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:237540685C>G	ENST00000366574.2	+	8	843	c.526C>G	c.(526-528)Cga>Gga	p.R176G	RYR2_ENST00000360064.6_Missense_Mutation_p.R174G|RYR2_ENST00000542537.1_Missense_Mutation_p.R160G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	176	MIR 2.		R -> Q (in ARVD2 and CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAAAAAGTACGAGTTGGAGA	0.443000													4	24					0	0	0.000248	0	0
UBR5	51366	broad.mit.edu	37	8	103358499	103358499	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:103358499C>A	ENST00000520539.1	-	7	1307	c.701G>T	c.(700-702)gGg>gTg	p.G234V	UBR5_ENST00000521922.1_Missense_Mutation_p.G234V|UBR5_ENST00000220959.4_Missense_Mutation_p.G234V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	234					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGTATCATCCCCATCATCTCC	0.428000													48	67					3.76525e-18	1.75632e-17	0.003610	1	0
SLC6A2	6530	broad.mit.edu	37	16	55730222	55730222	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:55730222G>A	ENST00000379906.2	+	8	1488	c.1233G>A	c.(1231-1233)atG>atA	p.M411I	SLC6A2_ENST00000219833.8_Missense_Mutation_p.M411I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.M411I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.M306I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.M366I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.M411I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.M411I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	411					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTTTCGTCATGCTCCTGGCGC	0.542000													27	92					0	0	0.006320	0	0
FER	2241	broad.mit.edu	37	5	108523253	108523253	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:108523253A>G	ENST00000281092.4	+	20	2830	c.2446A>G	c.(2446-2448)Atc>Gtc	p.I816V	FER_ENST00000438717.2_Missense_Mutation_p.I641V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	816	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGAGCTCACTATCATCAAGAG	0.418000													17	6					0	0	0.004990	0	0
F13A1	2162	broad.mit.edu	37	6	6266819	6266819	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:6266819C>T	ENST00000264870.3	-	4	808	c.543G>A	c.(541-543)acG>acA	p.T181T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	181					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGAGAATGTACGTGTCTGTTT	0.453000													23	70					0	0	0.005443	0	0
DNAI2	64446	broad.mit.edu	37	17	72278070	72278070	+	Silent	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:72278070C>A	ENST00000579490.1	+	1	420	c.285C>A	c.(283-285)gcC>gcA	p.A95A	DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000311014.6_Silent_p.A38A|DNAI2_ENST00000582036.1_Silent_p.A38A|DNAI2_ENST00000446837.2_Silent_p.A38A			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	38					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGAGCTGGCCGAGCAGTTCG	0.622000									Kartagener syndrome				32	185					4.31634e-10	1.87126e-09	0.002445	1	0
ANO5	203859	broad.mit.edu	37	11	22296276	22296276	+	Silent	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:22296276A>T	ENST00000324559.8	+	20	2714	c.2397A>T	c.(2395-2397)cgA>cgT	p.R799R	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	799						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGAAAAACGAGACTTCATCA	0.373000													14	28					0	0	0.002450	0	0
TRIM36	55521	broad.mit.edu	37	5	114506852	114506852	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:114506852G>A	ENST00000379618.2	-	2	639	c.131C>T	c.(130-132)gCg>gTg	p.A44V	TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Intron	NM_001017397.1	NP_001017397.1	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	559						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GAAGTCTGTCGCTGTGGCAAG	0.468000													59	20					0	0	0.003610	0	0
IGSF1	3547	broad.mit.edu	37	X	130409178	130409178	+	Silent	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:130409178C>G	ENST00000370904.1	-	23	4150	c.3240G>C	c.(3238-3240)ggG>ggC	p.G1080G	IGSF1_ENST00000370903.3_Silent_p.G1094G|IGSF1_ENST00000370910.1_Silent_p.G1080G|IGSF1_ENST00000361420.3_Silent_p.G1089G			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1089	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGGCAGTTCCCCTTGACACT	0.547000													102	13					0	0	0.003610	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5									p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													5	124					0	0	0.001984	0	0
POTEF	728378	broad.mit.edu	37	2	130872899	130872899	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:130872899G>T	ENST00000357462.5	-	2	617	c.524C>A	c.(523-525)aCt>aAt	p.T175N	POTEF_ENST00000409914.2_Missense_Mutation_p.T175N|POTEF_ENST00000361163.4_Missense_Mutation_p.T175N|POTEF_ENST00000360967.5_Missense_Mutation_p.T175N			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	175						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATGTAGAGCAGTCCTATGAGA	0.418000													30	96					4.42602e-33	2.23423e-32	0.008740	1	0
ZNF608	57507	broad.mit.edu	37	5	124080436	124080436	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:124080436G>C	ENST00000306315.5	-	1	682	c.247C>G	c.(247-249)Cta>Gta	p.L83V		NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	83						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCAAATTTTAGGCCATCAGCT	0.493000													18	18					0	0	0.006122	0	0
PANK1	53354	broad.mit.edu	37	10	91353635	91353635	+	Silent	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:91353635C>A	ENST00000307534.4	-	4	1577	c.1422G>T	c.(1420-1422)ctG>ctT	p.L474L	PANK1_ENST00000322191.6_Intron|PANK1_ENST00000371774.2_Silent_p.L276L|PANK1_ENST00000342512.3_Silent_p.L249L	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	474					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TGTCCTTCACCAGTTTATCAA	0.448000													6	135					0.00116845	0.00430572	0.001168	1	0
MYO16	23026	broad.mit.edu	37	13	109496738	109496738	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr13:109496738A>C	ENST00000356711.2	+	10	1205	c.1079A>C	c.(1078-1080)aAa>aCa	p.K360T	MYO16_ENST00000357550.2_Missense_Mutation_p.K360T|MYO16_ENST00000251041.5_Missense_Mutation_p.K360T	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	360					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			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)			TTGTTGGAAAAAGACATTATG	0.413000													9	27					0	0	0.006214	0	0
ANXA7	310	broad.mit.edu	37	10	75158106	75158106	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:75158106T>C	ENST00000372921.4	-	3	148	c.92A>G	c.(91-93)cAg>cGg	p.Q31R	ANXA7_ENST00000535178.1_5'UTR|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	31	Repeat-rich region.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ATAAGGATACTGACCAGAAGG	0.468000													11	19					0	0	0.001855	0	0
DPP6	1804	broad.mit.edu	37	7	154664386	154664386	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:154664386C>A	ENST00000404039.1	+	19	2261	c.1674C>A	c.(1672-1674)taC>taA	p.Y558*	DPP6_ENST00000377770.3_Nonsense_Mutation_p.Y622*|DPP6_ENST00000332007.3_Nonsense_Mutation_p.Y560*|DPP6_ENST00000427557.1_Nonsense_Mutation_p.Y515*	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	622					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCACCCACTACCCTCTGCTCC	0.547000													6	4					0.00198382	0.00723799	0.001984	1	0
TOX2	84969	broad.mit.edu	37	20	42694723	42694723	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr20:42694723G>T	ENST00000358131.5	+	6	1486	c.1278G>T	c.(1276-1278)atG>atT	p.M426I	TOX2_ENST00000435864.2_Missense_Mutation_p.M322I|TOX2_ENST00000423191.1_Missense_Mutation_p.M402I|TOX2_ENST00000372999.1_Missense_Mutation_p.M402I|TOX2_ENST00000341197.3_Missense_Mutation_p.M444I	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	426	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCTGGCGATGAGCCCCTCAC	0.662000													5	19					0.000602214	0.00225295	0.000602	1	0
AQP6	363	broad.mit.edu	37	12	50368216	50368216	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:50368216C>T	ENST00000315520.5	+	2	849	c.512C>T	c.(511-513)tCc>tTc	p.S171F	AQP6_ENST00000551733.1_5'UTR	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	171					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						ACATCAGGCTCCCCGGCCACC	0.627000											OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	36					0	0	0.007413	0	0
SMCHD1	23347	broad.mit.edu	37	18	2706416	2706416	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:2706416A>G	ENST00000320876.6	+	15	2349	c.2011A>G	c.(2011-2013)Agg>Ggg	p.R671G	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R671G	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	671					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAGCTGGATAGGACAGTTGC	0.333000													4	26					0	0	0.000248	0	0
HDAC7	51564	broad.mit.edu	37	12	48191248	48191248	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:48191248G>A	ENST00000080059.7	-	6	495	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	HDAC7_ENST00000354334.3_Missense_Mutation_p.R166C|HDAC7_ENST00000427332.2_Missense_Mutation_p.R127C|HDAC7_ENST00000380610.4_Missense_Mutation_p.R183C|HDAC7_ENST00000552960.1_Missense_Mutation_p.R149C	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	127	Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		AGCATGGAGCGGGTGGCTCCT	0.622000													24	50					0	0	0.003954	0	0
USP26	83844	broad.mit.edu	37	X	132161248	132161248	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:132161248G>T	ENST00000511190.1	-	6	1470	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H	USP26_ENST00000406273.1_Missense_Mutation_p.P334H|USP26_ENST00000370832.1_Missense_Mutation_p.P334H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	334					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AGCATTAAGGGGAATTTTACC	0.368000													29	4					6.07407e-21	2.92588e-20	0.007291	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746588	77746588	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:77746588C>T	ENST00000409088.3	-	3	821	c.407G>A	c.(406-408)cGc>cAc	p.R136H	LRRTM4_ENST00000409911.1_Missense_Mutation_p.R137H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R136H|LRRTM4_ENST00000409093.1_Missense_Mutation_p.R136H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R137H	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	136						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTCCAGATTGCGGAGATTGGG	0.383000													48	43					0	0	0.003214	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57868454	57868454	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:57868454C>A	ENST00000393797.2	-	17	2146	c.1954G>T	c.(1954-1956)Ggg>Tgg	p.G652W	ARHGAP9_ENST00000430041.2_Missense_Mutation_p.G378W|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.G562W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.G562W|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.G581W|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.G641W			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	581	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GCCAAGTTCCCGCTCACCCGA	0.507000													5	109					0.00116845	0.00430572	0.001168	1	0
HEBP2	23593	broad.mit.edu	37	6	138734184	138734184	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:138734184A>C	ENST00000607197.1	+	4	864	c.587A>C	c.(586-588)cAa>cCa	p.Q196P	HEBP2_ENST00000367697.3_3'UTR|HEBP2_ENST00000448741.1_3'UTR	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	196						mitochondrion		p.N198fs*2(1)		endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		TGGTTGATTCAAAAAAATGAA	0.363000													43	48					0	0	0.008740	0	0
GRIK5	2901	broad.mit.edu	37	19	42569484	42569484	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:42569484G>A	ENST00000262895.3	-	2	134	c.135C>T	c.(133-135)gcC>gcT	p.A45A	GRIK5_ENST00000593562.1_Silent_p.A45A|GRIK5_ENST00000301218.4_Silent_p.A45A	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	45						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CCCGGGCCAAGGCCAAGGCCA	0.612000													14	34					0	0	0.002450	0	0
DDHD2	23259	broad.mit.edu	37	8	38092023	38092023	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:38092023G>A	ENST00000397166.2	+	3	857	c.332G>A	c.(331-333)aGa>aAa	p.R111K	DDHD2_ENST00000520272.2_Missense_Mutation_p.R111K	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	111	WWE.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TCGGAAGTGAGACGATGTACG	0.448000													41	90					0	0	0.008740	0	0
HORMAD1	84072	broad.mit.edu	37	1	150686599	150686600	+	Splice_Site	INS	-	-	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:150686599_150686600insA	ENST00000368993.2	-	5	348		c.e5-2		HORMAD1_ENST00000476530.1_Splice_Site|HORMAD1_ENST00000322343.7_Splice_Site|HORMAD1_ENST00000361824.2_Splice_Site|HORMAD1_ENST00000368995.4_Splice_Site			Q86X24	HORM1_HUMAN	HORMA domain containing 1						blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		p.?(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCTAGCATCCTAAAAAAAAAAT	0.248													7	102	---	---	---	---					
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs138827617	by1000genomes	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGTGCTTTCACAAAAAAAATCA	0.327													4	6	---	---	---	---					
MTUS1	57509	broad.mit.edu	37	8	17611420	17611431	+	In_Frame_Del	DEL	ACGCAGAAACGG	ACGCAGAAACGG	-			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:17611420_17611431delACGCAGAAACGG	ENST00000381869.3	-	2	2359_2370	c.1886_1897delCCGTTTCTGCGT	c.(1885-1899)ttg>t	p.SVSAL629del	MTUS1_ENST00000262102.6_In_Frame_Del_p.SVSAL629del|MTUS1_ENST00000381862.3_In_Frame_Del_p.SVSAL629del|MTUS1_ENST00000519263.1_In_Frame_Del_p.SVSAL629del	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	629						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTCTGAAACAACGCAGAAACGGACCCGGTCTC	0.434													23	81	---	---	---	---					
EBF2	64641	broad.mit.edu	37	8	25720221	25720231	+	Splice_Site	DEL	TTACCTTAGCT	TTACCTTAGCT	-			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:25720221_25720231delTTACCTTAGCT	ENST00000520164.1	-	11	1629_1636	c.1098_splice	c.e11+1	p.F364_splice	EBF2_ENST00000408929.3_Splice_Site_p.F216_splice|EBF2_ENST00000535548.1_Splice_Site_p.F95_splice	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	364					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCAAAGCACATTACCTTAGCTAATCTCTCAG	0.403													9	54	---	---	---	---					
PPP2R1B	5519	broad.mit.edu	37	11	111636073	111636074	+	In_Frame_Ins	INS	-	-	ATT			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:111636073_111636074insATT	ENST00000527614.1	-	2	214_215	c.149_150insAAT	c.(148-150)agc>aAATgc	p.50_50S>KC	PPP2R1B_ENST00000393055.2_In_Frame_Ins_p.50_50S>KC|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000311129.5_In_Frame_Ins_p.50_50S>KC|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000341980.6_In_Frame_Ins_p.50_50S>KC	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	50							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GTGCTAGGGCAATTGTTGATAA	0.361													28	86	---	---	---	---					
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs66529359	by1000genomes	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tac>ta	p.YGSGGSSY552del		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688													4	8	---	---	---	---					
C12orf42	374470	broad.mit.edu	37	12	103695967	103695967	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:103695967delT	ENST00000548048.1	-	9	1297	c.801delA	c.(799-801)gcfs	p.A267fs	C12orf42_ENST00000378113.2_Frame_Shift_Del_p.A334fs|C12orf42_ENST00000548883.1_Frame_Shift_Del_p.A334fs|C12orf42_ENST00000315192.8_Intron			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	334										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GGCGGGGGGGTGCTGAGGAGC	0.582													14	101	---	---	---	---					
MPP5	64398	broad.mit.edu	37	14	67784174	67784175	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr14:67784174_67784175insT	ENST00000261681.4	+	11	2008_2009	c.1347_1348insT	c.(1345-1350)ttataafs	p.L*449fs	MPP5_ENST00000555925.1_Frame_Shift_Ins_p.L*415fs|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	449					tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AAAAGGTTTTATATAATGCCAA	0.342													12	33	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578505	7578515	+	Frame_Shift_Del	DEL	GGGCAGGTCTT	GGGCAGGTCTT	-	rs137852794		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:7578505_7578515delGGGCAGGTCTT	ENST00000420246.2	-	5	547_557	c.415_425delAAGACCTGCCC	c.(415-426)tfs	p.KTCP139fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.KTCP139fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.KTCP139fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.KTCP139fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.KTCP139fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.KTCP139fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	139	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(79)|p.C141R(13)|p.C141W(13)|p.T140I(12)|p.C141*(11)|p.K139N(9)|p.P142L(8)|p.0?(8)|p.K139K(7)|p.T140T(6)|p.C9Y(5)|p.K139E(5)|p.C48Y(5)|p.C141S(5)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.C141F(4)|p.K139fs*9(3)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.P142H(3)|p.K139fs*31(3)|p.C141fs*29(3)|p.K139Q(2)|p.K139R(2)|p.P142F(2)|p.P142A(2)|p.P142T(2)|p.P142S(2)|p.N131fs*27(2)|p.P142fs*28(2)|p.C141fs*8(2)|p.K139*(2)|p.K139T(1)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.V73fs*9(1)|p.K7_T8delKT(1)|p.T140fs*9(1)|p.K46_T47delKT(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*11(1)|p.K139fs*10(1)|p.T140N(1)|p.C48S(1)|p.C48R(1)|p.C48W(1)|p.A138fs*31(1)|p.C9S(1)|p.C42fs*9(1)|p.C9R(1)|p.K46E(1)|p.C9W(1)|p.C135_T140delCQLAKT(1)|p.Q136_K139delQLAK(1)|p.C141A(1)|p.C141G(1)|p.C141_P142insXX(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.C3fs*9(1)|p.K7E(1)|p.T140fs*28(1)|p.T140fs*30(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCTGCACAGGGCAGGTCTTGGCCAGTTGG	0.573		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			32	11	---	---	---	---					
PSMA8	143471	broad.mit.edu	37	18	23772351	23772352	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:23772351_23772352insA	ENST00000308268.6	+	7	836_837	c.747_748insA	c.(745-750)aaaaaafs	p.KK249fs	PSMA8_ENST00000415576.2_Frame_Shift_Ins_p.KK243fs|PSMA8_ENST00000343848.6_Frame_Shift_Ins_p.KK205fs	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	249					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	p.K249N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			AAGCAGAGAAGAAAAAATCAAA	0.302													10	20	---	---	---	---					
ATP1A3	478	broad.mit.edu	37	19	42492178	42492179	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:42492178_42492179insC	ENST00000545399.1	-	4	458_459	c.305_306insG	c.(304-306)gttfs	p.V102fs	ATP1A3_ENST00000543770.1_Frame_Shift_Ins_p.V100fs|ATP1A3_ENST00000602133.1_Frame_Shift_Ins_p.V59fs|ATP1A3_ENST00000302102.5_Frame_Shift_Ins_p.V89fs	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	89					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGATGGAGAAGCCCCCGAAGAG	0.639													94	66	---	---	---	---					
ZNF831	128611	broad.mit.edu	37	20	57769139	57769140	+	Frame_Shift_Ins	INS	-	-	G	rs55786258	by1000genomes	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr20:57769139_57769140insG	ENST00000371030.2	+	1	3065_3066	c.3065_3066insG	c.(3064-3066)tggfs	p.W1022fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1022						intracellular	nucleic acid binding|zinc ion binding	p.D1025fs*9(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGCACAGTTGGGGGGGGACA	0.678													7	22	---	---	---	---