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
NR1I3	9970	broad.mit.edu	37	1	161201248	161201248	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:161201248C>T	ENST00000367983.4	-	6	859	c.565G>A	c.(565-567)Gac>Aac	p.D189N	NR1I3_ENST00000442691.2_Missense_Mutation_p.D189N|NR1I3_ENST00000505005.1_Missense_Mutation_p.D189N|NR1I3_ENST00000506209.1_Missense_Mutation_p.D160N|NR1I3_ENST00000515621.1_Missense_Mutation_p.D114N|NR1I3_ENST00000504010.1_Missense_Mutation_p.D160N|NR1I3_ENST00000367984.4_Missense_Mutation_p.D189N|NR1I3_ENST00000511944.1_Silent_p.K85K|NR1I3_ENST00000512372.1_Missense_Mutation_p.D160N|NR1I3_ENST00000367979.2_Missense_Mutation_p.D189N|NR1I3_ENST00000367980.2_Missense_Mutation_p.D189N|NR1I3_ENST00000508387.1_Silent_p.K56K|NR1I3_ENST00000428574.2_Missense_Mutation_p.D189N|NR1I3_ENST00000367981.3_Missense_Mutation_p.D160N|NR1I3_ENST00000511676.1_Missense_Mutation_p.D160N|NR1I3_ENST00000367982.4_Missense_Mutation_p.D189N|NR1I3_ENST00000508740.1_Missense_Mutation_p.D160N|NR1I3_ENST00000502985.1_Silent_p.K85K|NR1I3_ENST00000437437.2_Missense_Mutation_p.D160N|NR1I3_ENST00000511748.1_Silent_p.K56K|NR1I3_ENST00000412844.2_Missense_Mutation_p.D160N|NR1I3_ENST00000515452.1_Missense_Mutation_p.D189N|NR1I3_ENST00000367985.3_Missense_Mutation_p.D189N			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	189					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAGATCTGGTCTTCAATGGGC	0.473000													16	268					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141986993	141986993	+	Silent	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:141986993T>C	ENST00000389484.3	-	6	1580	c.609A>G	c.(607-609)ccA>ccG	p.P203P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	203					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGTATAGGTGGTCTATCTG	0.294000										TSP Lung(27;0.18)			8	15					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415629	213415629	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:213415629T>C	ENST00000366960.3	+	11	2960	c.2810T>C	c.(2809-2811)tTg>tCg	p.L937S	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L925S|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L725S|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L640S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	937	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AACATCTTATTGAATGATAGA	0.398000													23	133					0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25875885	25875885	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr13:25875885G>A	ENST00000463407.1	+	0	117				NUPL1_ENST00000381736.3_De_novo_Start_OutOfFrame|NUPL1_ENST00000381718.3_De_novo_Start_OutOfFrame|NUPL1_ENST00000466694.1_3'UTR			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		ATTTCGCCTTGCTGACGGCGT	0.692000													5	13					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361424	107361424	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr9:107361424T>G	ENST00000374779.2	-	1	364	c.271A>C	c.(271-273)Acc>Ccc	p.T91P		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGGGAAATGGTCTTTCTTTCT	0.517000													5	68					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31089155	31089155	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr16:31089155C>A	ENST00000394979.2	+	1	1933	c.1510C>A	c.(1510-1512)Ctc>Atc	p.L504I	ZNF646_ENST00000300850.5_Missense_Mutation_p.L504I			O15015	ZN646_HUMAN	zinc finger protein 646	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GTACCCCAATCTCATGGCCCT	0.627000													8	44					0.000157383	0.000161962	1	1	0
HOMEZ	57594	broad.mit.edu	37	14	23746018	23746018	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr14:23746018G>C	ENST00000357460.5	-	2	583	c.419C>G	c.(418-420)tCt>tGt	p.S140C	HOMEZ_ENST00000561013.1_Missense_Mutation_p.S142C|HOMEZ_ENST00000431326.2_Missense_Mutation_p.S142C	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	140						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ATGAGTAAAAGAGAGAAGGGA	0.537000													110	80					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97821353	97821353	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr7:97821353G>C	ENST00000297293.5	+	11	1869	c.1576G>C	c.(1576-1578)Ggc>Cgc	p.G526R		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	526					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGATGACAGCGGCCAGGATGT	0.502000													31	55					0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228596357	228596357	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:228596357C>T	ENST00000366697.2	-	6	1935	c.979G>A	c.(979-981)Ggg>Agg	p.G327R	TRIM17_ENST00000295033.3_Missense_Mutation_p.G327R|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.G327R			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	327	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CTGCAGAACCCACTGCCCTCC	0.622000													20	151					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78082309	78082309	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr17:78082309A>G	ENST00000302262.3	+	7	1316	c.1097A>G	c.(1096-1098)tAc>tGc	p.Y366C	GAA_ENST00000390015.3_Missense_Mutation_p.Y366C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	366					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ATGCCGCCATACTGGGGCCTG	0.687000													12	34					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7828284	7828284	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr19:7828284G>T	ENST00000327325.5	+	2	170	c.52G>T	c.(52-54)Gat>Tat	p.D18Y	CLEC4M_ENST00000357361.2_Missense_Mutation_p.D18Y|CLEC4M_ENST00000248228.4_Missense_Mutation_p.D18Y|CLEC4M_ENST00000597522.1_Missense_Mutation_p.D18Y|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000359059.5_Missense_Mutation_p.D18Y|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000394122.2_Missense_Mutation_p.D18Y|CLEC4M_ENST00000595496.1_Missense_Mutation_p.D18Y|CLEC4M_ENST00000596707.1_Missense_Mutation_p.D18Y	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	18					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TTCAGAAGAAGATCCAACAAC	0.522000													35	113					9.04072e-19	9.99423e-19	1	1	0
KCNQ5	56479	broad.mit.edu	37	6	73332235	73332235	+	Silent	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr6:73332235C>G	ENST00000342056.2	+	1	716	c.318C>G	c.(316-318)gtC>gtG	p.V106V	KCNQ5_ENST00000370398.1_Silent_p.V106V|KCNQ5_ENST00000355635.3_Silent_p.V106V|KCNQ5_ENST00000355194.4_Silent_p.V106V|KCNQ5_ENST00000403813.2_Silent_p.V106V|KCNQ5_ENST00000402622.2_Silent_p.V106V|KCNQ5_ENST00000414165.2_Silent_p.V106V|KCNQ5_ENST00000370392.1_Silent_p.V106V	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	106					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGCGCAACGTCAAGTACCGGC	0.667000													6	14					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207850847	207850847	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:207850847G>A	ENST00000508064.2	+	2	271	c.211G>A	c.(211-213)Gga>Aga	p.G71R	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	71	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGTTATTCCGGAAGACCGTT	0.473000													31	207					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121134743	121134743	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:121134743G>C	ENST00000273666.6	+	26	3497	c.3226G>C	c.(3226-3228)Gaa>Caa	p.E1076Q	STXBP5L_ENST00000471454.1_Missense_Mutation_p.E1052Q	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1076					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGAGACACCAGAAGCTCAAAA	0.363000													30	57					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73501457	73501457	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr10:73501457G>A	ENST00000224721.6	+	37	4644	c.4639G>A	c.(4639-4641)Ggt>Agt	p.G1547S		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1542	Cadherin 15.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCAGAACGTGGGTGGAGGTAC	0.587000													5	6					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115372141	115372141	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr10:115372141G>A	ENST00000369358.4	-	30	3618	c.3374C>T	c.(3373-3375)cCg>cTg	p.P1125L	NRAP_ENST00000359988.3_Missense_Mutation_p.P1117L|NRAP_ENST00000369360.3_Missense_Mutation_p.P1090L|NRAP_ENST00000360478.3_Missense_Mutation_p.P1082L			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1117						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CATGTCCAACGGCAGATGGAA	0.517000													22	59					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81213415	81213415	+	Silent	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr15:81213415C>T	ENST00000394685.3	+	16	2465	c.2046C>T	c.(2044-2046)ctC>ctT	p.L682L	KIAA1199_ENST00000220244.3_Silent_p.L682L|KIAA1199_ENST00000356249.5_Silent_p.L682L|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	682										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACAACAACCTCATCAACTGTG	0.562000													5	20					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70349942	70349942	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chrX:70349942G>A	ENST00000333646.6	+	28	4124	c.3925G>A	c.(3925-3927)Gac>Aac	p.D1309N	MED12_ENST00000374080.3_Missense_Mutation_p.D1309N|MED12_ENST00000374102.1_Missense_Mutation_p.D1309N	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1309					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGACCTGCAAGACCCAGTGTT	0.552000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						6	7					0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33567476	33567476	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:33567476C>G	ENST00000358680.3	+	8	1185	c.598C>G	c.(598-600)Cat>Gat	p.H200D	ADC_ENST00000373440.1_Missense_Mutation_p.H200D|ADC_ENST00000398167.1_Intron|ADC_ENST00000373441.1_Intron|ADC_ENST00000294517.6_Intron|ADC_ENST00000484656.1_Intron|ADC_ENST00000373443.3_Intron			Q96A70	ADC_HUMAN	arginine decarboxylase	0					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	agagtccattcatttcattgc	0.418000													13	11					0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	1986969	1986969	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr19:1986969G>C	ENST00000255608.4	-	8	1292	c.1276C>G	c.(1276-1278)Cac>Gac	p.H426D		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	426						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTATCGGTGTGAATAATCTGC	0.667000													37	70					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178863109	178863109	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:178863109C>G	ENST00000367635.3	+	16	1719	c.1381C>G	c.(1381-1383)Caa>Gaa	p.Q461E	RALGPS2_ENST00000367634.2_Missense_Mutation_p.Q435E|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	461	PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGTTACTATTCAAGGTGTTCT	0.308000													13	21					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90138788	90138788	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr15:90138788A>G	ENST00000268138.7	+	7	1951	c.1846A>G	c.(1846-1848)Aca>Gca	p.T616A	TICRR_ENST00000560985.1_Missense_Mutation_p.T615A					TOPBP1-interacting checkpoint and replication regulator																		TAGTGGGAGAACAGTGGATAA	0.423000													14	80					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	137987734	137987734	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr9:137987734G>T	ENST00000252854.4	+	3	458	c.271G>T	c.(271-273)Gag>Tag	p.E91*	OLFM1_ENST00000392991.4_Nonsense_Mutation_p.E109*|OLFM1_ENST00000371793.3_Nonsense_Mutation_p.E109*|OLFM1_ENST00000371796.3_Nonsense_Mutation_p.E82*|OLFM1_ENST00000277415.11_Nonsense_Mutation_p.E91*	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	109					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TCAATCCATAGAGGTCTTGGA	0.517000													48	26					5.73435e-26	6.49128e-26	1	1	0
PLCH1	23007	broad.mit.edu	37	3	155199886	155199886	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:155199886C>G	ENST00000460012.1	-	23	4196	c.3839G>C	c.(3838-3840)aGt>aCt	p.S1280T	PLCH1_ENST00000340059.7_Missense_Mutation_p.S1318T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1280T|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1280T			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1318					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTTGGTAGGACTTTTTGGTAA	0.507000													20	128					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74442427	74442427	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr4:74442427G>C	ENST00000307439.5	-	9	1037	c.743C>G	c.(742-744)aCa>aGa	p.T248R	RASSF6_ENST00000342081.3_Missense_Mutation_p.T280R|RASSF6_ENST00000395777.2_Missense_Mutation_p.T214R|RASSF6_ENST00000335049.5_Missense_Mutation_p.T236R	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	280	Ras-associating.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CGGAATGTCTGTCTTCTTTAG	0.393000													6	181					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342519	60342519	+	RNA	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr17:60342519G>T	ENST00000581291.1	-	0	1634																				breast(2)|kidney(1)|lung(2)	5						TGCAGGGCCGGGAAGTCCATG	0.652000													30	82					3.80469e-20	4.23909e-20	1	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6051566	6051566	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr4:6051566C>G	ENST00000409021.3	-	15	2391	c.1942G>C	c.(1942-1944)Gat>Cat	p.D648H	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.D463H	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	421					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAAGGATATCTAATTTCTTC	0.398000													5	27					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161021247	161021247	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:161021247G>C	ENST00000368013.3	-	10	1597	c.1277C>G	c.(1276-1278)tCt>tGt	p.S426C	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.S426C|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S249C	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	426					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACTGAGGATAGAGGTGATGTG	0.617000													21	293					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368836	86368836	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr13:86368836T>G	ENST00000400286.2	-	2	2406	c.1808A>C	c.(1807-1809)gAc>gCc	p.D603A		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	603						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGGCACAGCGTCCGTAAGAGA	0.433000													27	104					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856223	62856223	+	Silent	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr17:62856223C>A	ENST00000584306.1	-	11	4571	c.4041G>T	c.(4039-4041)gcG>gcT	p.A1347A	LRRC37A3_ENST00000334962.5_Silent_p.A324A|LRRC37A3_ENST00000319651.5_Silent_p.A1347A|LRRC37A3_ENST00000339474.5_Silent_p.A465A|LRRC37A3_ENST00000400877.3_Silent_p.A385A	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1347						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGAGGCTCTTCGCTGCAGAGA	0.448000													78	107					4.01556e-35	4.61953e-35	1	1	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744483	31744483	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr21:31744483C>T	ENST00000399889.2	-	1	74	c.49G>A	c.(49-51)Gac>Aac	p.D17N		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	17						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CGCAGGTAGTCACCACAGGAG	0.542000													106	99					0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122277887	122277887	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:122277887T>C	ENST00000543163.1	-	14	1350	c.905A>G	c.(904-906)cAg>cGg	p.Q302R	HPD_ENST00000289004.4_Missense_Mutation_p.Q341R	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	341					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GGGCCGGTCCTGCACCGGTTT	0.627000													25	91					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29476693	29476693	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:29476693C>T	ENST00000373795.4	-	5	824	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	SRSF4_ENST00000466448.1_Intron|SRSF4_ENST00000546138.1_Intron	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	197	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						ATGTCTGCTTCGAGAGCGAGA	0.398000													71	106					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77347620	77347620	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr9:77347620T>C	ENST00000451710.3	-	36	6058	c.5821A>G	c.(5821-5823)Ata>Gta	p.I1941V	TRPM6_ENST00000449912.2_Missense_Mutation_p.I1932V|TRPM6_ENST00000376872.3_Missense_Mutation_p.I892V|TRPM6_ENST00000376871.3_Missense_Mutation_p.I774V|TRPM6_ENST00000361255.3_Missense_Mutation_p.I1932V|TRPM6_ENST00000360774.1_Missense_Mutation_p.I1937V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1937	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCAGGTTTTATAACAGATGGA	0.244000													17	7					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328772	88328772	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr13:88328772G>A	ENST00000325089.6	+	2	1348	c.1129G>A	c.(1129-1131)Gcg>Acg	p.A377T	SLITRK5_ENST00000400028.3_Missense_Mutation_p.A136T	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	377	LRRNT.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTGTCCCACCGCGTGCTCTTG	0.582000													18	85					0	0	1	0	0
EPN1	29924	broad.mit.edu	37	19	56204330	56204330	+	Silent	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr19:56204330C>T	ENST00000411543.2	+	9	1996	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	EPN1_ENST00000085079.7_Silent_p.F371F|EPN1_ENST00000270460.6_Silent_p.F397F	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	397	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCGGGGGATTCGACACGGAGC	0.697000													22	180					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70349569	70349569	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chrX:70349569G>C	ENST00000333646.6	+	27	3930	c.3731G>C	c.(3730-3732)gGa>gCa	p.G1244A	MED12_ENST00000374080.3_Missense_Mutation_p.G1244A|MED12_ENST00000374102.1_Missense_Mutation_p.G1244A	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1244					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACTGTGACAGGAGGAACAGAA	0.587000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	5					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105732928	105732928	+	Silent	SNP	A	A	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:105732928A>G	ENST00000393127.2	+	5	1112	c.666A>G	c.(664-666)ttA>ttG	p.L222L	GRIA4_ENST00000525187.1_Silent_p.L222L|GRIA4_ENST00000530497.1_Silent_p.L222L|GRIA4_ENST00000282499.5_Silent_p.L222L|GRIA4_ENST00000428631.2_Silent_p.L222L|GRIA4_ENST00000393125.2_Silent_p.L222L	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	222					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AAAACATATTAGAACAGGTAA	0.343000													3	17					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371373	55371373	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:55371373G>A	ENST00000302231.4	-	1	501	c.477C>T	c.(475-477)atC>atT	p.I159I		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TTAAGGCCAGGATAATCTGAG	0.453000													12	73					0	0	1	0	0
PICALM	8301	broad.mit.edu	37	11	85733472	85733472	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:85733472A>T	ENST00000526033.1	-	4	706	c.390T>A	c.(388-390)taT>taA	p.Y130*	PICALM_ENST00000393346.3_Nonsense_Mutation_p.Y130*|PICALM_ENST00000528398.1_Nonsense_Mutation_p.Y79*|PICALM_ENST00000356360.5_Nonsense_Mutation_p.Y130*|PICALM_ENST00000532317.1_Nonsense_Mutation_p.Y130*|PICALM_ENST00000528411.1_5'UTR	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	130	ENTH.				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TCTCATTTAAATATCTACTAT	0.289000			T	"""MLLT10, MLL"""	"""TALL, AML, """								15	68					0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48537551	48537551	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:48537551C>G	ENST00000340802.6	+	21	2271	c.2047C>G	c.(2047-2049)Ctg>Gtg	p.L683V	PFKM_ENST00000551804.1_Missense_Mutation_p.L581V|PFKM_ENST00000312352.7_Missense_Mutation_p.L612V|PFKM_ENST00000395233.2_Missense_Mutation_p.L581V|PFKM_ENST00000359794.5_Missense_Mutation_p.L612V|PFKM_ENST00000547587.1_Missense_Mutation_p.L612V	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	612					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGTTGAACATCTGGTGCAAAA	0.403000													13	70					0	0	1	0	0
TMEM179B	374395	broad.mit.edu	37	11	62557438	62557438	+	Silent	SNP	A	A	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:62557438A>G	ENST00000333449.4	+	5	584	c.579A>G	c.(577-579)ccA>ccG	p.P193P	TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_3'UTR	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	193						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						AAGCCACCCCATACCGGCCTC	0.557000													38	124					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80835396	80835396	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:80835396G>C	ENST00000466387.1	+	21	3107	c.2383G>C	c.(2383-2385)Gtg>Ctg	p.V795L	AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V474L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V795L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V829L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V795L|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V795L|CTNNA2_ENST00000540488.1_Intron			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	795					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTGCAGCAAGGTGAAGGCAGA	0.448000													6	65					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35138249	35138249	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr21:35138249G>A	ENST00000381318.3	+	10	1147	c.859G>A	c.(859-861)Gat>Aat	p.D287N	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.D287N|ITSN1_ENST00000399355.2_Missense_Mutation_p.D287N|ITSN1_ENST00000381285.4_Missense_Mutation_p.D287N|ITSN1_ENST00000399326.3_Missense_Mutation_p.D287N|ITSN1_ENST00000399353.1_Missense_Mutation_p.D250N|ITSN1_ENST00000399338.4_Missense_Mutation_p.D287N|ITSN1_ENST00000399349.1_Missense_Mutation_p.D287N|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.D287N|ITSN1_ENST00000379960.5_Missense_Mutation_p.D287N|ITSN1_ENST00000381291.4_Missense_Mutation_p.D287N|ITSN1_ENST00000399352.1_Missense_Mutation_p.D287N	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	287	EF-hand 2.|EH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCACCTCATTGATGTAGCTAT	0.423000													10	76					0	0	1	0	0
SRP72	6731	broad.mit.edu	37	4	57351016	57351016	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr4:57351016A>G	ENST00000342756.5	+	10	1793	c.1072A>G	c.(1072-1074)Ata>Gta	p.I358V	SRP72_ENST00000510663.1_Missense_Mutation_p.I297V	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	358					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CACAAAAGCAATAGAGCTGCT	0.403000													12	36					0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73572608	73572608	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr14:73572608G>A	ENST00000261973.7	+	11	1481	c.1196G>A	c.(1195-1197)aGa>aAa	p.R399K	RBM25_ENST00000527432.1_Missense_Mutation_p.R399K	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		gagcgggaaagagagagagag	0.443000													21	16					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31073359	31073359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr16:31073359C>T	ENST00000417110.2	+	1	547	c.547C>T	c.(547-549)Cga>Tga	p.R183*	ZNF668_ENST00000538906.1_Missense_Mutation_p.R297H|ZNF668_ENST00000539836.3_Missense_Mutation_p.R320H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R320H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R297H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R297H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R297H			Q96K58	ZN668_HUMAN	zinc finger protein 668	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCGCTGGTGGCGACGGAAGCT	0.682000													12	52					0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4835988	4835988	+	Silent	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr16:4835988C>T	ENST00000268231.8	-	3	548	c.285G>A	c.(283-285)ctG>ctA	p.L95L	SEPT12_ENST00000591861.1_5'UTR|SEPT12_ENST00000396693.5_Silent_p.L95L	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	95					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CACCATGGGTCAGTGAATGCA	0.627000													10	23					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131888097	131888097	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr7:131888097G>A	ENST00000359827.3	-	11	3342	c.2380C>T	c.(2380-2382)Cca>Tca	p.P794S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.P794S			Q9HCM2	PLXA4_HUMAN	plexin A4	794						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTCTGAGCTGGGTTGTCAATG	0.582000													34	32					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38165183	38165183	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr22:38165183C>T	ENST00000406386.3	+	20	6979	c.6724C>T	c.(6724-6726)Cgc>Tgc	p.R2242C	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R529C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2242					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGAGCTGCTGCGCCACAACCA	0.711000													10	14					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30921799	30921799	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr4:30921799G>C	ENST00000543491.1	+	2	3199	c.3199G>C	c.(3199-3201)Gtt>Ctt	p.V1067L	PCDH7_ENST00000509925.1_3'UTR			O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GACGTTTTCTGTTGTGAGTCA	0.413000													16	33					0	0	1	0	0
ZNF70	7621	broad.mit.edu	37	22	24086359	24086359	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr22:24086359G>A	ENST00000341976.3	-	2	1429	c.969C>T	c.(967-969)ctC>ctT	p.L323L		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	323						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GGTGCTCAATGAGGTTGGAGC	0.567000													34	36					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47113192	47113192	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr18:47113192G>A	ENST00000261292.4	+	9	1731	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N	LIPG_ENST00000427224.2_Missense_Mutation_p.D411N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	485					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CAAGTGTCGGGATGGCTGGAG	0.512000													19	22					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618262	156618262	+	Silent	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr4:156618262G>T	ENST00000296518.7	+	3	452	c.243G>T	c.(241-243)ctG>ctT	p.L81L	GUCY1A3_ENST00000455639.2_Silent_p.L81L|GUCY1A3_ENST00000511507.1_Silent_p.L81L|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000513574.1_Silent_p.L81L|GUCY1A3_ENST00000506455.1_Silent_p.L81L|GUCY1A3_ENST00000511108.1_Silent_p.L81L|GUCY1A3_ENST00000515602.1_3'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	81					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTGCAAACTGATTTTCCCAG	0.363000													22	56					3.8784e-16	4.25422e-16	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48719725	48719725	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr8:48719725C>T	ENST00000314191.2	-	70	9773	c.9717G>A	c.(9715-9717)atG>atA	p.M3239I	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M3239I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3240	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTATCATCTTCATTTTCATGG	0.458000								Non-homologous end-joining					11	72					0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51582885	51582885	+	Missense_Mutation	SNP	C	C	T	rs61998181	by1000genomes	TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr19:51582885C>T	ENST00000391802.1	-	5	553	c.335G>A	c.(334-336)cGt>cAt	p.R112H	KLK14_ENST00000156499.2_Missense_Mutation_p.R112H	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	112	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CGTCACCTGACGAACCACGCG	0.657000													5	22					0	0	1	0	0
SRSF8	10929	broad.mit.edu	37	11	94801097	94801097	+	RNA	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:94801097G>T	ENST00000529911.1	+	0	737					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding										AGTCCTCCTCGGTCTCCAGGT	0.582000													32	42					4.15321e-07	4.46904e-07	1	1	0
MUC17	140453	broad.mit.edu	37	7	100675761	100675761	+	Missense_Mutation	SNP	C	C	T	rs150423564	byFrequency	TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr7:100675761C>T	ENST00000306151.4	+	3	1128	c.1064C>T	c.(1063-1065)tCa>tTa	p.S355L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	355	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACACTTTCAATAACTCCT	0.473000													227	168					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55417989	55417989	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr19:55417989T>A	ENST00000594765.1	+	3	204	c.179T>A	c.(178-180)cTg>cAg	p.L60Q	NCR1_ENST00000447255.1_Missense_Mutation_p.L60Q|NCR1_ENST00000598576.1_Missense_Mutation_p.L48Q|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.L60Q|NCR1_ENST00000338835.5_Missense_Mutation_p.L60Q|NCR1_ENST00000350790.5_Intron			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	60	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GAATACCAGCTGCACTTTGAA	0.498000													17	97					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106861	27106861	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:27106861C>T	ENST00000324856.7	+	20	6843	c.6472C>T	c.(6472-6474)Cga>Tga	p.R2158*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1941*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R486*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1775*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2158					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R2158*(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCAGTGACCGAAAGAACCC	0.597000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								22	119					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989525	53989525	+	Silent	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr6:53989525T>C	ENST00000514921.1	+	3	587	c.474T>C	c.(472-474)gcT>gcC	p.A158A	MLIP_ENST00000358276.5_Silent_p.A152A|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Silent_p.A106A|MLIP_ENST00000370877.2_Silent_p.A106A|MLIP_ENST00000274897.5_Silent_p.A158A|MLIP_ENST00000502396.1_Silent_p.A169A|MLIP_ENST00000370876.2_Silent_p.A96A	NM_001281746.1	NP_001268675.1	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	158						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GCACCGCAGCTGTCCGGCCCA	0.527000													28	96					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65414978	65414978	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chrX:65414978G>A	ENST00000519389.1	+	9	1749	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M	HEPH_ENST00000374727.3_Missense_Mutation_p.V473M|HEPH_ENST00000441993.2_Missense_Mutation_p.V473M|HEPH_ENST00000419594.1_Missense_Mutation_p.V473M|HEPH_ENST00000343002.2_Missense_Mutation_p.V470M|HEPH_ENST00000336279.5_Missense_Mutation_p.V203M			Q9BQS7	HEPH_HUMAN	hephaestin	470	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CACCATTCAGGTGGTCTTCTA	0.507000													15	12					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29596409	29596409	+	Silent	SNP	A	A	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:29596409A>G	ENST00000318184.5	-	25	3041	c.3042T>C	c.(3040-3042)ccT>ccC	p.P1014P	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	1014					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGTGATTTAAAGGGGCTACTA	0.343000													80	98					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160794030	160794030	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:160794030G>A	ENST00000368037.5	+	9	1962	c.1848G>A	c.(1846-1848)cgG>cgA	p.R616R	LY9_ENST00000392203.4_Silent_p.R540R|LY9_ENST00000368040.1_Intron|LY9_ENST00000263285.6_Silent_p.R630R|LY9_ENST00000341032.4_Silent_p.R496R|LY9_ENST00000368041.2_Silent_p.R500R	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTCCATACGGAAACCTCAGG	0.488000													19	276					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580988	7580988	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr6:7580988C>G	ENST00000379802.3	+	23	4906	c.4565C>G	c.(4564-4566)aCg>aGg	p.T1522R	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1522	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGTAGTGCGACGGAGACAATA	0.473000													33	180					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140596021	140596021	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr5:140596021C>T	ENST00000341948.4	+	1	2513	c.2326C>T	c.(2326-2328)Ccc>Tcc	p.P776S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		776					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACTTCCCTCCCCAGTGCCC	0.473000													17	76					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178948096	178948096	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:178948096G>C	ENST00000263967.3	+	20	3025	c.2868G>C	c.(2866-2868)ttG>ttC	p.L956F		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	956	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATTTGTTTTGACACAGGATT	0.323000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			24	74					0	0	1	0	0
FAM9C	171484	broad.mit.edu	37	X	13061301	13061301	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chrX:13061301A>T	ENST00000542843.1	-	3	338	c.128T>A	c.(127-129)gTa>gAa	p.V43E	FAM9C_ENST00000333995.3_Missense_Mutation_p.V43E|FAM9C_ENST00000380625.3_Missense_Mutation_p.V43E			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	43						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CTCATCAGTTACATCTCCCTC	0.398000													26	82					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105795396	105795396	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:105795396A>T	ENST00000393127.2	+	12	2194	c.1748A>T	c.(1747-1749)gAa>gTa	p.E583V	GRIA4_ENST00000525187.1_Missense_Mutation_p.E583V|GRIA4_ENST00000530497.1_Missense_Mutation_p.E583V|GRIA4_ENST00000282499.5_Missense_Mutation_p.E583V	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	583					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GACGGAAAGGAAGGACCCAGC	0.488000													12	38					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984520	140984520	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chrX:140984520G>A	ENST00000544766.1	+	5	609	c.82G>A	c.(82-84)Gca>Aca	p.A28T	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_Missense_Mutation_p.A28T|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.A28T	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGTAGATGCACAGGATTC	0.517000													38	67					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43164042	43164042	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr21:43164042C>T	ENST00000352483.2	-	8	1403	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	RIPK4_ENST00000332512.3_Splice_Site_p.D399N|RIPK4_ENST00000544709.1_Splice_Site_p.D336N|RIPK4_ENST00000542057.1_Splice_Site_p.D336N			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	399						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCCCACTCACCGCTGGTTGAA	0.597000													13	89					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20112513	20112513	+	Silent	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:20112513C>G	ENST00000396085.1	+	28	5971	c.5610C>G	c.(5608-5610)ctC>ctG	p.L1870L	NAV2_ENST00000540292.1_Silent_p.L1857L|NAV2_ENST00000360655.4_Silent_p.L1803L|NAV2_ENST00000396087.3_Silent_p.L1926L|NAV2_ENST00000311043.8_Silent_p.L931L|NAV2_ENST00000533917.1_Silent_p.L931L|NAV2_ENST00000349880.4_Silent_p.L1867L|NAV2_ENST00000527559.2_Silent_p.L1855L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1926						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TAGAAGCTCTCAGTTCTGCCC	0.537000													9	39					0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4409158	4409158	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:4409158C>T	ENST00000261254.3	+	5	1122	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	285					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TACAGACGTGCGGGATATCGA	0.532000			T	IGL@	"""NHL,CLL"""								4	43					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915151	119915151	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr7:119915151C>A	ENST00000331113.4	+	1	1430	c.465C>A	c.(463-465)gaC>gaA	p.D155E		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	155					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CGGATACCGACACCGCTGGGG	0.622000													49	75					7.88023e-25	8.84962e-25	1	1	0
MAD2L1	4085	broad.mit.edu	37	4	120982076	120982076	+	Missense_Mutation	SNP	C	C	T	rs78047690		TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr4:120982076C>T	ENST00000296509.6	-	4	737	c.398G>A	c.(397-399)aGa>aAa	p.R133K		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)		HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity	p.R133K(1)		breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TGTGATCTGTCTGATCACTGA	0.353000													5	15					0	0	1	0	0
ZNF70	7621	broad.mit.edu	37	22	24086128	24086128	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr22:24086128G>A	ENST00000341976.3	-	2	1660	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	400						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						ACCGGTGCCGGAAGGCTTTGC	0.592000													82	66					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137991854	137991854	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:137991854C>T	ENST00000469044.1	+	17	1796	c.1525C>T	c.(1525-1527)Cga>Tga	p.R509*	ARMC8_ENST00000491704.1_Nonsense_Mutation_p.R467*|ARMC8_ENST00000461822.1_Nonsense_Mutation_p.R442*|NME9_ENST00000383180.2_Intron|NME9_ENST00000484930.1_Intron|NME9_ENST00000536478.1_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000485396.1_Nonsense_Mutation_p.R436*|NME9_ENST00000341790.5_Intron|ARMC8_ENST00000538260.1_Nonsense_Mutation_p.R478*|ARMC8_ENST00000481646.1_Nonsense_Mutation_p.R495*|ARMC8_ENST00000393058.3_Nonsense_Mutation_p.R499*	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	509							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						AGATATTTTACGAAGCTTGAG	0.338000													8	52					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160181350	160181350	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:160181350T>C	ENST00000392783.2	-	36	6820	c.6325A>G	c.(6325-6327)Aca>Gca	p.T2109A	BAZ2B_ENST00000392782.1_Missense_Mutation_p.T2073A|BAZ2B_ENST00000343439.5_Missense_Mutation_p.T2009A|BAZ2B_ENST00000355831.2_Missense_Mutation_p.T2075A	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2109	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCTCTAATTGTGGAAAAATCC	0.328000													7	27					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43929838	43929838	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr20:43929838G>C	ENST00000537548.1	-	6	1037	c.793C>G	c.(793-795)Cat>Gat	p.H265D	MATN4_ENST00000372754.1_Missense_Mutation_p.H306D|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.H265D|MATN4_ENST00000372756.1_Missense_Mutation_p.H265D|MATN4_ENST00000360607.6_Missense_Mutation_p.H224D|MATN4_ENST00000372751.4_Missense_Mutation_p.H116D			O95460	MATN4_HUMAN	matrilin 4	306	EGF-like 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGACAGCTATGGTTCCCAAAG	0.587000											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	144					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157474	26157474	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chrX:26157474G>A	ENST00000325250.1	+	2	559	c.372G>A	c.(370-372)acG>acA	p.T124T		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	124	MAGE.						protein binding	p.T124T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGTATGAAACGAAAGAGCCAA	0.423000													7	3					0	0	1	0	0
TBC1D28	254272	broad.mit.edu	37	17	18541224	18541224	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr17:18541224G>C	ENST00000345096.4	-	8	1149	c.450C>G	c.(448-450)agC>agG	p.S150R	TBC1D28_ENST00000405044.1_Missense_Mutation_p.S150R			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	150	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						GCAGGGTGTGGCTGACATCTA	0.542000													27	70					0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410226	45410226	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:45410226C>G	ENST00000332700.6	-	4	1034	c.863G>C	c.(862-864)aGt>aCt	p.S288T		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	288						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		CCATCTTGGACTTGAGTGCTG	0.512000													20	112					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777400	18777400	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr9:18777400C>T	ENST00000380548.4	+	19	3512	c.3173C>T	c.(3172-3174)cCg>cTg	p.P1058L		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1058						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GAGGAGGACCCGGGTGCAGAG	0.692000													4	14					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419747	105419747	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr14:105419747T>A	ENST00000333244.5	-	7	2160	c.2041A>T	c.(2041-2043)Aag>Tag	p.K681*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	681						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AATGGCATCTTGAACTTGGGC	0.502000													195	131					0	0	1	0	0
CLRN1	7401	broad.mit.edu	37	3	150690430	150690430	+	Silent	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:150690430G>T	ENST00000327047.1	-	1	356	c.66C>A	c.(64-66)ctC>ctA	p.L22L	CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Silent_p.L22L|RP11-166N6.2_ENST00000469268.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	22					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCACAACTCCGAGGGCACATG	0.527000													9	119					1.12685e-05	1.17242e-05	1	1	0
GRID1	2894	broad.mit.edu	37	10	87487628	87487628	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr10:87487628C>T	ENST00000327946.7	-	10	1602	c.1517G>A	c.(1516-1518)gGg>gAg	p.G506E	GRID1_ENST00000536331.1_Missense_Mutation_p.G77E	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	506						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GATGAGCTCCCCGATCATCCC	0.542000										Multiple Myeloma(13;0.14)			56	54					0	0	1	0	0
LCP2	3937	broad.mit.edu	37	5	169697867	169697867	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr5:169697867C>T	ENST00000046794.5	-	7	994	c.379G>A	c.(379-381)Gac>Aac	p.D127N		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	127					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GACTCATAGTCTCCATCATCC	0.532000													9	23					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231328	7231328	+	Silent	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr18:7231328C>T	ENST00000383467.2	+	1	206	c.192C>T	c.(190-192)ccC>ccT	p.P64P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	64										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CAGACATCCCCGACTTTCTGT	0.617000													12	59					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228113232	228113232	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:228113232C>A	ENST00000396578.3	+	9	704	c.542C>A	c.(541-543)cCc>cAc	p.P181H	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	181	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GCTCCAGGACCCCAGGTACAG	0.463000													16	25					3.52763e-06	3.69748e-06	1	1	0
NAV3	89795	broad.mit.edu	37	12	78582523	78582523	+	Silent	SNP	T	T	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:78582523T>G	ENST00000397909.2	+	33	6194	c.6021T>G	c.(6019-6021)gtT>gtG	p.V2007V	NAV3_ENST00000266692.7_Silent_p.V1808V|NAV3_ENST00000536525.2_Silent_p.V1985V|NAV3_ENST00000552300.1_Intron|NAV3_ENST00000228327.6_Silent_p.V1985V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2007						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GATACCTTGTTGGAGATAATA	0.398000										HNSCC(70;0.22)			5	182					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876144	35876144	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr5:35876144T>A	ENST00000303115.3	+	8	1065	c.936T>A	c.(934-936)gaT>gaA	p.D312E	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	312					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATAGGGTGGATGACATTCAAG	0.433000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						9	44					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50899676	50899676	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr22:50899676G>A	ENST00000380817.3	-	23	3062	c.2879C>T	c.(2878-2880)gCg>gTg	p.A960V	SBF1_ENST00000348911.6_Missense_Mutation_p.A961V|SBF1_ENST00000390679.3_Missense_Mutation_p.A960V	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		GRAM.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTTGGTCAGCGCAGCCACCGG	0.657000													20	13					0	0	1	0	0
RNASET2	8635	broad.mit.edu	37	6	167343133	167343133	+	Silent	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr6:167343133C>G	ENST00000366855.6	-	10	1275	c.600G>C	c.(598-600)ctG>ctC	p.L200L	RNASET2_ENST00000508775.1_Silent_p.L238L|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Silent_p.L238L			O00584	RNT2_HUMAN	ribonuclease T2	238					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		CACAGACTCTCAGACCCCGGC	0.537000													63	285					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122085262	122085262	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr4:122085262C>A	ENST00000454328.1	-	3	246	c.19G>T	c.(19-21)Ggc>Tgc	p.G7C	TNIP3_ENST00000057513.3_Missense_Mutation_p.G7C|TNIP3_ENST00000509841.1_Missense_Mutation_p.G84C|TNIP3_ENST00000507879.1_Missense_Mutation_p.G77C			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	7										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CTAGATGTGCCCTGTACAAAA	0.408000													12	47					7.93312e-07	8.47197e-07	1	1	0
ANKRD34A	284615	broad.mit.edu	37	1	145474702	145474702	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:145474702G>A	ENST00000323397.4	+	4	2667	c.1374G>A	c.(1372-1374)gcG>gcA	p.A458A		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	458	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGCCGGGGCGCCAGGCTCTC	0.652000													31	41					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950598	235950598	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:235950598G>A	ENST00000409212.1	+	4	1692	c.1185G>A	c.(1183-1185)atG>atA	p.M395I	SH3BP4_ENST00000344528.4_Missense_Mutation_p.M395I|SH3BP4_ENST00000392011.2_Missense_Mutation_p.M395I			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	395					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)		TCTTGGAGATGAAAGTGTCAG	0.537000													33	39					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19136927	19136927	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr19:19136927C>T	ENST00000601879.1	-	3	527	c.230G>A	c.(229-231)aGa>aAa	p.R77K	SUGP2_ENST00000452918.2_Missense_Mutation_p.R77K|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000600377.1_Missense_Mutation_p.R91K|SUGP2_ENST00000456085.2_5'UTR|SUGP2_ENST00000337018.6_Missense_Mutation_p.R77K			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	77					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGGCCTTCTCTTCCGGCATC	0.517000													14	71					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175585	207175585	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:207175585G>A	ENST00000374423.3	+	5	6719	c.6333G>A	c.(6331-6333)ccG>ccA	p.P2111P		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2111							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGGCAGTGCCGGCAAGATATG	0.433000													11	54					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74921141	74921141	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr17:74921141G>C	ENST00000569840.2	+	9	1693	c.1119G>C	c.(1117-1119)caG>caC	p.Q373H	MGAT5B_ENST00000428789.2_Missense_Mutation_p.Q384H|MGAT5B_ENST00000301618.4_Missense_Mutation_p.Q373H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	373						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCTGCAGCAGATGAAGCGGC	0.632000													48	71					0	0	1	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161147105	161147105	+	RNA	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:161147105T>C	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						CACAAGTGTGTTGTTGTCTTC	0.463000													9	73					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8161843	8161843	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr19:8161843C>T	ENST00000600128.1	-	43	5749	c.5335G>A	c.(5335-5337)Gac>Aac	p.D1779N	FBN3_ENST00000601739.1_Missense_Mutation_p.D1779N|FBN3_ENST00000270509.2_Missense_Mutation_p.D1779N			Q75N90	FBN3_HUMAN	fibrillin 3	1779	EGF-like 27; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTGATGCAGTCAGCATTCTGC	0.592000													25	90					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38941541	38941541	+	Silent	SNP	A	A	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr6:38941541A>T	ENST00000359357.3	+	82	12233	c.11979A>T	c.(11977-11979)gtA>gtT	p.V3993V	DNAH8_ENST00000441566.1_Silent_p.V3957V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTTCCGAGTATGGATAACTA	0.398000													28	44					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18858182	18858182	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:18858182G>C	ENST00000447925.2	-	7	1045	c.776C>G	c.(775-777)gCa>gGa	p.A259G	PLCZ1_ENST00000541695.1_Missense_Mutation_p.A124G|PLCZ1_ENST00000538330.1_Missense_Mutation_p.A2G|PLCZ1_ENST00000266505.7_Missense_Mutation_p.A261G|PLCZ1_ENST00000539875.1_Missense_Mutation_p.A68G|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000435379.1_Missense_Mutation_p.A66G	NM_033123.3	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	261	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAAATTGTCTGCCATTACTTC	0.398000													15	154					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821098	151821098	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chrX:151821098C>T	ENST00000370306.2	+	9	1273	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	418						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTCTTTGACGTCCACCTCC	0.637000													29	60					0	0	1	0	0
SRSF8	10929	broad.mit.edu	37	11	94801096	94801096	+	RNA	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:94801096C>A	ENST00000529911.1	+	0	736					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding										AAGTCCTCCTCGGTCTCCAGG	0.577000													35	43					2.20262e-25	2.48343e-25	1	1	0
ITPKB	3707	broad.mit.edu	37	1	226829730	226829730	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:226829730G>A	ENST00000429204.1	-	5	2670	c.2343C>T	c.(2341-2343)ccC>ccT	p.P781P	ITPKB_ENST00000272117.3_Silent_p.P781P	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	781							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCTCCTCGGTGGGGGCCTCGG	0.632000													150	118					0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10431424	10431424	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr19:10431424G>C	ENST00000293677.6	-	9	1809	c.1728C>G	c.(1726-1728)ttC>ttG	p.F576L		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	433						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			ACTTGAGCTGGAAGGCTTTGC	0.706000													5	9					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22425867	22425867	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr4:22425867G>A	ENST00000334304.5	-	11	1821	c.1552C>T	c.(1552-1554)Ctt>Ttt	p.L518F	GPR125_ENST00000508133.1_Missense_Mutation_p.L292F|GPR125_ENST00000502482.1_Missense_Mutation_p.L518F|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	518					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATGCGCTGAAGACACTGCACA	0.473000													17	49					0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127454638	127454638	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:127454638A>T	ENST00000398101.3	-	1	562	c.64T>A	c.(64-66)Ttt>Att	p.F22I	MGLL_ENST00000265052.5_Intron|MGLL_ENST00000398104.1_Intron|MGLL_ENST00000434178.2_Intron|MGLL_ENST00000453507.2_Intron			Q99685	MGLL_HUMAN	monoglyceride lipase	0					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						AAATGTATAAATTCTGGCATT	0.488000													12	102					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50758469	50758469	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:50758469G>T	ENST00000404971.1	-	12	3702	c.2363C>A	c.(2362-2364)tCc>tAc	p.S788Y	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.S748Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.S748Y|NRXN1_ENST00000405472.3_Missense_Mutation_p.S740Y|NRXN1_ENST00000406316.2_Missense_Mutation_p.S748Y|NRXN1_ENST00000402717.3_Missense_Mutation_p.S740Y	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	748	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCACGCTGGGATCGGAACCG	0.517000													10	23					0.0809354	0.0815114	1	1	0
FOXE1	2304	broad.mit.edu	37	9	100616370	100616370	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr9:100616370C>A	ENST00000375123.3	+	1	835	c.174C>A	c.(172-174)taC>taA	p.Y58*		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	58					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				CCTACAGCTACATCGCGCTCA	0.756000													5	21					0.000602214	0.000615259	1	1	0
HIP1	3092	broad.mit.edu	37	7	75187038	75187038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr7:75187038G>A	ENST00000336926.6	-	16	1527	c.1501C>T	c.(1501-1503)Caa>Taa	p.Q501*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.Q501*	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	501					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACCTGGGCTTGTCTGGCCATG	0.532000			T	PDGFRB	CMML								53	102					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2578324	2578324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr16:2578324G>C	ENST00000302956.4	+	7	899	c.805G>C	c.(805-807)Gat>Cat	p.D269H	CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000293971.6_Missense_Mutation_p.D269H|AMDHD2_ENST00000413459.3_Missense_Mutation_p.D269H|AMDHD2_ENST00000565570.1_Intron			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	269					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GATGATTGCAGATGGCACGCA	0.687000													41	59					0	0	1	0	0
NUP210P1	255330	broad.mit.edu	37	3	126386070	126386070	+	RNA	SNP	A	A	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:126386070A>G	ENST00000357061.3	+	0	522					NR_034158.1																						ATGTCCATCTATATCACCTGG	0.587000													26	49					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33236822	33236822	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr6:33236822C>G	ENST00000445902.2	-	6	735	c.517G>C	c.(517-519)Gat>Cat	p.D173H	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.D48H|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	173					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ACCAGACCATCAACAAGCTCC	0.532000													24	140					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15952194	15952194	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr17:15952194G>A	ENST00000268712.3	-	41	6758	c.6501C>T	c.(6499-6501)ctC>ctT	p.L2167L	NCOR1_ENST00000395851.1_Silent_p.L2064L|NCOR1_ENST00000395857.3_Silent_p.L751L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2167	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCTGAGACAAGAGCAGCAAGC	0.552000													25	41					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107840708	107840708	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chrX:107840708G>A	ENST00000328300.6	+	24	1933	c.1689G>A	c.(1687-1689)ttG>ttA	p.L563L	COL4A5_ENST00000361603.2_Silent_p.L563L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	563	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AAGGAGAGTTGGGTTCCCCTG	0.557000									Alport syndrome with Diffuse Leiomyomatosis				22	14					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36681343	36681343	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr22:36681343C>A	ENST00000216181.5	-	38	5537	c.5307G>T	c.(5305-5307)gaG>gaT	p.E1769D	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1769					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGTGGCTGCGCTCCAGGTTCA	0.612000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				42	89					9.39024e-22	1.05037e-21	1	1	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	59					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326143	152326143	+	Silent	SNP	A	A	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:152326143A>T	ENST00000388718.5	-	3	4191	c.4119T>A	c.(4117-4119)gcT>gcA	p.A1373A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1373							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGAGATCCAGCTTGGCTGT	0.493000													171	375					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292065	6292065	+	Silent	SNP	C	C	A	rs1800843	by1000genomes	TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:6292065C>A	ENST00000525462.1	+	4	846	c.843C>A	c.(841-843)ggC>ggA	p.G281G	CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000532396.1_Intron			P32239	GASR_HUMAN	cholecystokinin B receptor	241					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAAATCTGGGCGAGGCGGAGC	0.622000													11	24					1.58986e-06	1.68514e-06	1	1	0
UNC93A	54346	broad.mit.edu	37	6	167704998	167704998	+	Silent	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr6:167704998C>T	ENST00000230256.3	+	1	196	c.21C>T	c.(19-21)aaC>aaT	p.N7N	UNC93A_ENST00000366829.2_Silent_p.N7N|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	7						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTCTAAGGAACGTCCTTGTGG	0.448000													19	70					0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36903500	36903500	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr13:36903500C>T	ENST00000451493.1	-	4	1380	c.1163G>A	c.(1162-1164)aGg>aAg	p.R388K	SPG20_ENST00000438666.2_Splice_Site_p.R388K|SPG20_ENST00000355182.4_Splice_Site_p.R388K|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Splice_Site_p.R388K	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	388					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTTATTTACCCTTTTTCCACG	0.378000													26	128					0	0	1	0	0
SUPT3H	8464	broad.mit.edu	37	6	45073659	45073659	+	Splice_Site	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr6:45073659C>A	ENST00000371460.1	-	5	536	c.219G>T	c.(217-219)ctG>ctT	p.L73L	SUPT3H_ENST00000371459.1_Splice_Site_p.L62L|SUPT3H_ENST00000371461.2_Splice_Site_p.L73L|SUPT3H_ENST00000306867.5_Splice_Site_p.L62L	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	144					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						ATGCTCTTACCAGATTAATTA	0.328000													9	59					0.00448238	0.00454664	1	1	0
FAM178A	55719	broad.mit.edu	37	10	102683740	102683740	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr10:102683740A>C	ENST00000238961.4	+	5	1524	c.982A>C	c.(982-984)Aag>Cag	p.K328Q	FAM178A_ENST00000370269.3_Missense_Mutation_p.K328Q|FAM178A_ENST00000370271.3_Missense_Mutation_p.K328Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		AGCAGGCTCTAAGCAGAATAA	0.328000													3	32					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36369507	36369507	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr19:36369507C>A	ENST00000221891.4	+	14	1793	c.1601C>A	c.(1600-1602)gCa>gAa	p.A534E	APLP1_ENST00000537454.2_Missense_Mutation_p.A494E|APLP1_ENST00000586861.1_Missense_Mutation_p.A527E	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	533					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAAGATGCTGCATCCCCTGAG	0.493000													15	63					1.15088e-07	1.24312e-07	1	1	0
GPR4	2828	broad.mit.edu	37	19	46095008	46095008	+	Silent	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr19:46095008C>T	ENST00000323040.4	-	2	1061	c.117G>A	c.(115-117)ctG>ctA	p.L39L	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	39						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGGCCGCCCACAGAGCCAGGC	0.647000													40	78					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42739569	42739569	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr13:42739569G>T	ENST00000261491.5	+	8	979	c.958G>T	c.(958-960)Ggt>Tgt	p.G320C	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Splice_Site_p.G184C|DGKH_ENST00000337343.4_Splice_Site_p.G320C|DGKH_ENST00000540693.1_Splice_Site_p.G320C|DGKH_ENST00000379274.2_Splice_Site_p.G184C|DGKH_ENST00000538674.1_Splice_Site_p.G75C	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CGATTCCGATGGTATGTAGCA	0.333000													13	43					4.3838e-07	4.6993e-07	1	1	0
HUNK	30811	broad.mit.edu	37	21	33297040	33297040	+	Silent	SNP	A	A	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr21:33297040A>T	ENST00000270112.2	+	2	882	c.522A>T	c.(520-522)gtA>gtT	p.V174V		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	174	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TCTCTGCCGTAGAGCACCTGC	0.637000													29	178					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25845528	25845528	+	Splice_Site	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr6:25845528T>C	ENST00000397060.4	-	13	1609		c.e13-2		SLC17A3_ENST00000361703.6_Splice_Site|SLC17A3_ENST00000360657.3_Splice_Site	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3						glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GTGGGATAACTAAGAAAGGAA	0.338000													19	22					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118348833	118348833	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:118348833G>C	ENST00000534358.1	+	5	3509	c.3486G>C	c.(3484-3486)caG>caC	p.Q1162H	KMT2A_ENST00000389506.5_Missense_Mutation_p.Q1162H|KMT2A_ENST00000354520.4_Missense_Mutation_p.Q1162H	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CCGGCTGCCAGGTGCCTGAGG	0.498000													41	202					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75439859	75439859	+	Silent	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:75439859C>A	ENST00000526712.1	+	4	1202	c.429C>A	c.(427-429)tcC>tcA	p.S143S	MOGAT2_ENST00000198801.5_Silent_p.S225S			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	225					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CAATCTTCTCCTTCGGGGAGA	0.537000													10	62					1.58986e-06	1.68514e-06	1	1	0
CXorf48	54967	broad.mit.edu	37	X	134294477	134294477	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chrX:134294477C>A	ENST00000344129.2	-	3	509	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	CXorf48_ENST00000276241.6_Missense_Mutation_p.D95Y	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	95										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GGCACAACATCCACCTGTAAG	0.313000													6	14					2.0095e-06	2.12197e-06	1	1	0
PYGO1	26108	broad.mit.edu	37	15	55839210	55839210	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr15:55839210G>C	ENST00000302000.6	-	3	365	c.271C>G	c.(271-273)Ctt>Gtt	p.L91V	PYGO1_ENST00000563719.1_Missense_Mutation_p.L91V	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	91	Pro-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		CCAGGGCCAAGATATGGATTT	0.443000													33	66					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292053	6292053	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:6292053G>C	ENST00000525462.1	+	4	834	c.831G>C	c.(829-831)gaG>gaC	p.E277D	CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000532396.1_Intron			P32239	GASR_HUMAN	cholecystokinin B receptor	237					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GACCACGTGAGCAAAATCTGG	0.607000													11	23					0	0	1	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166657	96166657	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr8:96166657T>C	ENST00000315367.3	+	2	626	c.385T>C	c.(385-387)Tgt>Cgt	p.C129R	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.C129R	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	129	PH.					transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					TATAAATAAATGTGTTACTGA	0.408000													93	92					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106235604	106235604	+	RNA	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr14:106235604C>T	ENST00000390551.2	-	0	1102																											AGAGGCTCTTCTGCGTGAAGC	0.637000													58	87					0	0	1	0	0
NR0B2	8431	broad.mit.edu	37	1	27240326	27240326	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:27240326G>A	ENST00000254227.3	-	1	131	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	36					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCGGCTACGGGGTCGGGGG	0.657000													35	68					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819601	17819601	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chrX:17819601G>A	ENST00000545871.1	-	3	990	c.530C>T	c.(529-531)cCg>cTg	p.P177L	RAI2_ENST00000451717.1_Missense_Mutation_p.P177L|RAI2_ENST00000415486.3_Missense_Mutation_p.P127L|RAI2_ENST00000360011.1_Missense_Mutation_p.P177L|RAI2_ENST00000331511.1_Missense_Mutation_p.P177L	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	177					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGGCTCCTGCGGCTGGCTGGG	0.642000													30	52					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124340703	124340703	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr8:124340703C>T	ENST00000287394.5	-	25	3702	c.3595G>A	c.(3595-3597)Gag>Aag	p.E1199K	ATAD2_ENST00000521903.1_Missense_Mutation_p.E517K	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTATCACTCTCAATTTTGTGA	0.398000													28	124					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575148	136575148	+	Silent	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:136575148C>T	ENST00000264162.2	-	6	1480	c.1470G>A	c.(1468-1470)gaG>gaA	p.E490E		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	490	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.E490D(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGCCATGGGCTCGATGCCCG	0.627000													14	53					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440702	99440702	+	Silent	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr8:99440702C>A	ENST00000287042.4	+	2	845	c.495C>A	c.(493-495)ccC>ccA	p.P165P	KCNS2_ENST00000521839.1_Silent_p.P165P	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	165						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			ATGGGCAGCCCCTCGGCAACT	0.602000													6	81					8.12818e-05	8.42592e-05	1	1	0
OR4M2	390538	broad.mit.edu	37	15	22369285	22369285	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr15:22369285G>T	ENST00000332663.2	+	1	808	c.710G>T	c.(709-711)aGg>aTg	p.R237M	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AATACCAACAGGGCCATGTCC	0.463000													46	319					3.10996e-30	3.54887e-30	1	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20885908	20885908	+	Silent	SNP	A	A	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:20885908A>C	ENST00000381552.1	+	10	1620	c.1252A>C	c.(1252-1254)Aga>Cga	p.R418R	SLCO1C1_ENST00000545102.1_Silent_p.R300R|SLCO1C1_ENST00000266509.2_Silent_p.R418R|SLCO1C1_ENST00000540354.1_Silent_p.R369R|SLCO1C1_ENST00000545604.1_Silent_p.R418R			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	418					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GAAAAAATTCAGAATCAGTGT	0.408000													17	110					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20112542	20112542	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:20112542G>T	ENST00000396085.1	+	28	6000	c.5639G>T	c.(5638-5640)cGg>cTg	p.R1880L	NAV2_ENST00000540292.1_Missense_Mutation_p.R1867L|NAV2_ENST00000360655.4_Missense_Mutation_p.R1813L|NAV2_ENST00000396087.3_Missense_Mutation_p.R1936L|NAV2_ENST00000311043.8_Missense_Mutation_p.R941L|NAV2_ENST00000533917.1_Missense_Mutation_p.R941L|NAV2_ENST00000349880.4_Missense_Mutation_p.R1877L|NAV2_ENST00000527559.2_Missense_Mutation_p.R1865L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1936						nucleus	ATP binding|helicase activity	p.R1936Q(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GACCAGCTCCGGGAGGCCATG	0.567000													12	33					6.49762e-13	7.07241e-13	1	1	0
FKBPL	63943	broad.mit.edu	37	6	32096866	32096866	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr6:32096866C>T	ENST00000375156.3	-	2	962	c.692G>A	c.(691-693)cGa>cAa	p.R231Q		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	231					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.R231Q(1)									TCCATAGCATCGGGCAGCTCC	0.587000													55	81					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498207	179498207	+	Silent	SNP	A	A	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:179498207A>T	ENST00000589042.1	-	232	43103	c.42879T>A	c.(42877-42879)ctT>ctA	p.L14293L	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.L11725L|TTN_ENST00000342175.6_Silent_p.L5420L|TTN_ENST00000591111.1_Silent_p.L12652L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.L5353L|TTN_ENST00000460472.2_Silent_p.L5228L|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12652	Fibronectin type-III 3.						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)			CTTTATCTTTAAGGTCCGCCT	0.418000													16	39					0	0	1	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190615371	190615371	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:190615371C>G	ENST00000264151.5	-	8	1280	c.1178G>C	c.(1177-1179)gGa>gCa	p.G393A	OSGEPL1_ENST00000522700.1_Missense_Mutation_p.G393A|OSGEPL1_ENST00000519810.1_3'UTR	NM_022353.2	NP_071748.2	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	393					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			TATGTCTACTCCAAGAGGACA	0.343000													3	5					0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79095819	79095819	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr17:79095819G>C	ENST00000326724.4	-	11	1941	c.1917C>G	c.(1915-1917)ttC>ttG	p.F639L	AATK_ENST00000417379.1_Missense_Mutation_p.F536L	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	639						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GTGGGTCCTCGAAGAAGGCAG	0.721000													13	31					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563189	55563189	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:55563189T>C	ENST00000335605.1	+	1	158	c.158T>C	c.(157-159)aTt>aCt	p.I53T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATAATCAAGATTAACCCCAAA	0.388000													15	65					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38950677	38950677	+	Silent	SNP	A	A	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:38950677A>T	ENST00000450244.1	-	9	1308	c.1110T>A	c.(1108-1110)cgT>cgA	p.R370R	SCN11A_ENST00000456224.3_Silent_p.R370R|SCN11A_ENST00000444237.2_Silent_p.R370R|SCN11A_ENST00000302328.3_Silent_p.R370R			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	370					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCCCAGTAGTACGCAGGGTCT	0.453000													47	76					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150305477	150305477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:150305477G>A	ENST00000324862.6	+	6	700	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	PRPF3_ENST00000543398.1_Missense_Mutation_p.E44K|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.E130K	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	179					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTCCCAACCAGAACGACTTCC	0.453000													41	66					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212522505	212522505	+	Silent	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:212522505G>T	ENST00000342788.4	-	16	2230	c.1920C>A	c.(1918-1920)ggC>ggA	p.G640G	ERBB4_ENST00000436443.1_Silent_p.G640G|ERBB4_ENST00000402597.1_Intron	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	640					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)		AAGTGGAATGGCCCGTCCATG	0.428000										TSP Lung(8;0.080)			36	50					1.36161e-19	1.51113e-19	1	1	0
SOX1	6656	broad.mit.edu	37	13	112722046	112722046	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr13:112722046C>G	ENST00000330949.1	+	1	134	c.74C>G	c.(73-75)cCc>cGc	p.P25R		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	25					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		CTCTCGGGCCCCGCCGGGGCg	0.776000													5	6					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57221467	57221467	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr4:57221467G>A	ENST00000205214.6	-	6	1164	c.984C>T	c.(982-984)ctC>ctT	p.L328L	AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000502617.1_Silent_p.L328L|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000602986.1_Silent_p.L175L|AASDH_ENST00000513376.1_Silent_p.L228L|AASDH_ENST00000451613.1_Silent_p.L328L	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	328					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCCAGCTTCTGAGAACTGTCA	0.408000													25	62					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11346614	11346614	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr5:11346614C>T	ENST00000304623.8	-	9	1687	c.1498G>A	c.(1498-1500)Gcg>Acg	p.A500T	CTNND2_ENST00000511377.1_Missense_Mutation_p.A409T|CTNND2_ENST00000503622.1_Missense_Mutation_p.A163T|CTNND2_ENST00000359640.2_Missense_Mutation_p.A500T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.A67T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	500					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TAGGGGTCCGCGTAATTGGAG	0.662000													28	118					0	0	1	0	0
HERC2P2	400322	broad.mit.edu	37	15	23318694	23318694	+	RNA	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr15:23318694C>T	ENST00000560464.1	-	0	2389																											TCTTCCTCAACGCTGTCACAA	0.488000													22	117					0	0	1	0	0
HYAL3	8372	broad.mit.edu	37	3	50331102	50331102	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:50331102G>A	ENST00000336307.1	-	3	1217	c.945C>T	c.(943-945)ggC>ggT	p.G315G	HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Silent_p.G66G	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	315					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGAGCACCACGCCGGCTGCCC	0.627000													21	74					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31616365	31616365	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:31616365G>A	ENST00000395934.2	+	4	437	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	ELP4_ENST00000379163.5_Missense_Mutation_p.E144K|ELP4_ENST00000350638.5_Missense_Mutation_p.E144K			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	144					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GGAATTTGATGAAGATGTATA	0.308000													7	49					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33588234	33588234	+	Silent	SNP	C	C	T	rs143766988	by1000genomes	TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr20:33588234C>T	ENST00000262873.7	+	37	5138	c.5046C>T	c.(5044-5046)acC>acT	p.T1682T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1640						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCCATGCCACCCGTCAGGCCA	0.677000													23	63					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151949141	151949141	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr7:151949141G>T	ENST00000355193.2	-	11	1722	c.1504C>A	c.(1504-1506)Cat>Aat	p.H502N	KMT2C_ENST00000262189.6_Missense_Mutation_p.H502N					lysine (K)-specific methyltransferase 2C																		TCCAGTTCATGATCTGTTGGT	0.398000													8	4					1.12685e-05	1.17242e-05	1	1	0
XPO7	23039	broad.mit.edu	37	8	21848377	21848377	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr8:21848377G>T	ENST00000434536.1	+	18	2117	c.2015G>T	c.(2014-2016)cGg>cTg	p.R672L	XPO7_ENST00000433566.4_Missense_Mutation_p.R664L|XPO7_ENST00000252512.9_Missense_Mutation_p.R663L			Q9UIA9	XPO7_HUMAN	exportin 7	663					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	p.R663Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ACAGACATGCGGTGTCGGACT	0.423000													43	88					1.89013e-27	2.14822e-27	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													3	47					0	0	1	0	0
RDH5	5959	broad.mit.edu	37	12	56115489	56115489	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:56115489G>A	ENST00000550412.1	+	4	384	c.368G>A	c.(367-369)tGa>tAa	p.*123*	RP11-644F5.10_ENST00000549424.1_Silent_p.*45*|RDH5_ENST00000548082.1_Silent_p.V109V|RDH5_ENST00000553160.1_Intron|RDH5_ENST00000257895.5_Silent_p.V109V|RDH5_ENST00000547072.1_Silent_p.V12V																endometrium(1)|lung(1)	2						TTGGTCTGGTGAATAATGCTG	0.562000													11	47					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87570363	87570363	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr9:87570363G>A	ENST00000376214.1	+	19	3041	c.2103G>A	c.(2101-2103)ggG>ggA	p.G701G	NTRK2_ENST00000323115.4_Silent_p.G685G|NTRK2_ENST00000277120.3_Silent_p.G701G|NTRK2_ENST00000376213.1_Silent_p.G685G	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	685	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GCCTGGTCGGGGAGAACTTGC	0.592000										TSP Lung(25;0.17)			6	35					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41337510	41337510	+	Silent	SNP	A	A	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:41337510A>G	ENST00000551295.2	+	13	1608	c.1491A>G	c.(1489-1491)ggA>ggG	p.G497G	CNTN1_ENST00000347616.1_Silent_p.G497G|CNTN1_ENST00000348761.2_Silent_p.G486G|CNTN1_ENST00000360099.3_Silent_p.G497G|CNTN1_ENST00000547702.1_Silent_p.G497G|CNTN1_ENST00000547849.1_Silent_p.G497G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	497	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATAGCACTGGAACCCTTGTTA	0.353000													6	40					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78604227	78604227	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:78604227A>T	ENST00000397909.2	+	40	7261	c.7088A>T	c.(7087-7089)cAa>cTa	p.Q2363L	NAV3_ENST00000266692.7_Missense_Mutation_p.Q2164L|NAV3_ENST00000536525.2_Missense_Mutation_p.Q2341L|NAV3_ENST00000541270.1_Missense_Mutation_p.Q193L|NAV3_ENST00000228327.6_Missense_Mutation_p.Q2341L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2363						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCGAGCACACAAAGCTGCGAC	0.413000										HNSCC(70;0.22)			14	207					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19124897	19124897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr22:19124897G>A	ENST00000252137.6	-	8	1017	c.974C>T	c.(973-975)cCc>cTc	p.P325L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	325					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					AACTCTCAAGGGTGTGTTCTC	0.602000													84	104					0	0	1	0	0
LANCL3	347404	broad.mit.edu	37	X	37514951	37514951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chrX:37514951C>T	ENST00000378621.3	+	2	886	c.584C>T	c.(583-585)cCa>cTa	p.P195L	TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378619.3_Missense_Mutation_p.P195L	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	195							catalytic activity			lung(4)|pancreas(1)	5						GTGCTGACTCCAGCACAGATC	0.413000													11	7					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41105136	41105136	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr19:41105136G>A	ENST00000204005.9	+	2	50	c.50G>A	c.(49-51)cGt>cAt	p.R17H	LTBP4_ENST00000308370.7_Silent_p.T60T|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_003573.2	NP_003564.2	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	0					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGGGCCAGACGTCTAGGAGGA	0.587000											OREG0025473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	23					0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723478	48723478	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:48723478C>T	ENST00000335017.1	+	1	716	c.404C>T	c.(403-405)gCg>gTg	p.A135V		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	135	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CCGGGACGCGCGAGGCAAGAG	0.746000													10	21					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543163	133543163	+	Silent	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:133543163C>T	ENST00000409261.1	-	14	1594	c.1221G>A	c.(1219-1221)aaG>aaA	p.K407K	NCKAP5_ENST00000317721.6_Silent_p.K407K|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	407							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTTCTGTAGCTTTCTTAGCC	0.408000													17	49					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74842885	74842885	+	Silent	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr9:74842885C>T	ENST00000358399.3	+	9	942	c.849C>T	c.(847-849)ctC>ctT	p.L283L	GDA_ENST00000238018.4_Silent_p.L283L|GDA_ENST00000376986.1_Silent_p.L205L|GDA_ENST00000376989.3_Silent_p.L222L|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Silent_p.L209L	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	283					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GCTGCTACCTCTCTGCAGAAG	0.448000													12	7					0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92613277	92613277	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:92613277G>A	ENST00000342818.3	+	9	1292	c.1056G>A	c.(1054-1056)gaG>gaA	p.E352E	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	352						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TTTGGTCTGAGAGAAGCTTTG	0.303000													4	35					0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39263132	39263132	+	Silent	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr22:39263132C>T	ENST00000407418.3	-	5	444	c.321G>A	c.(319-321)tcG>tcA	p.S107S	CBX6_ENST00000216083.6_Silent_p.S89S			O95503	CBX6_HUMAN	chromobox homolog 6	107					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GCAGCTTGGGCGAGGAGGCAC	0.716000													6	4					0	0	1	0	0
NXPE2	120406	broad.mit.edu	37	11	114569243	114569243	+	Silent	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:114569243C>T	ENST00000375475.5	+	3	707	c.609C>T	c.(607-609)ctC>ctT	p.L203L	NXPE2_ENST00000389586.4_Silent_p.L203L					neurexophilin and PC-esterase domain family, member 2																		TATCAGCTCTCTGGAGGGCAA	0.532000													5	42					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183705701	183705701	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:183705701C>A	ENST00000334444.6	-	5	688	c.448G>T	c.(448-450)Gag>Tag	p.E150*	ABCC5_ENST00000382494.2_Nonsense_Mutation_p.E150*|ABCC5_ENST00000392579.2_Nonsense_Mutation_p.E150*|ABCC5_ENST00000265586.6_Nonsense_Mutation_p.E150*|ABCC5_ENST00000427120.2_Nonsense_Mutation_p.E150*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	150						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CACAGTCTCTCTAGTCTTAAC	0.557000													32	74					3.99451e-17	4.39862e-17	1	1	0
SLC6A15	55117	broad.mit.edu	37	12	85255542	85255542	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:85255542G>C	ENST00000266682.5	-	12	2603	c.2062C>G	c.(2062-2064)Cca>Gca	p.P688A	SLC6A15_ENST00000552192.1_Missense_Mutation_p.P581A|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	688					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CCAAAATTTGGAGATGGCATC	0.443000													14	161					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22068721	22068721	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:22068721T>C	ENST00000261200.4	-	5	696	c.697A>G	c.(697-699)Aca>Gca	p.T233A	ABCC9_ENST00000261201.4_Missense_Mutation_p.T233A|ABCC9_ENST00000345162.2_Missense_Mutation_p.T233A	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	233					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATAATAAGTGTGTTCATCCAC	0.388000													8	91					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51464808	51464808	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr14:51464808G>A	ENST00000298355.3	-	7	2684	c.1563C>T	c.(1561-1563)gtC>gtT	p.V521V	TRIM9_ENST00000360392.4_Silent_p.V521V|TRIM9_ENST00000338969.5_Silent_p.V517V	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	521	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGTACGGGCTGACTCCTGTTT	0.542000													17	16					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43779505	43779505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:43779505C>T	ENST00000372476.3	+	14	2354	c.2275C>T	c.(2275-2277)Cag>Tag	p.Q759*	TIE1_ENST00000433781.2_Nonsense_Mutation_p.Q404*|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	759					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGCCTGGATCAGCAGCTGAT	0.642000													8	36					0	0	1	0	0
PSTK	118672	broad.mit.edu	37	10	124742270	124742270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr10:124742270C>T	ENST00000405485.1	+	2	304	c.238C>T	c.(238-240)Cga>Tga	p.R80*	PSTK_ENST00000368887.3_Nonsense_Mutation_p.R80*|PSTK_ENST00000497219.1_3'UTR			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	80							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		GAAATTGCTTCGACAGGAACT	0.493000													10	53					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34051071	34051071	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr21:34051071T>C	ENST00000382499.2	-	12	1510	c.1511A>G	c.(1510-1512)aAt>aGt	p.N504S	SYNJ1_ENST00000357345.3_Missense_Mutation_p.N465S|SYNJ1_ENST00000322229.7_Missense_Mutation_p.N465S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.N468S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.N504S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	465	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAAGAAGTTATTCTGAATTGT	0.383000													61	40					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	68002376	68002376	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr16:68002376G>T	ENST00000422611.2	-	1	221	c.182C>A	c.(181-183)aCt>aAt	p.T61N	SLC12A4_ENST00000572010.1_Intron|SLC12A4_ENST00000572037.1_Missense_Mutation_p.T11N|SLC12A4_ENST00000338335.3_Missense_Mutation_p.D27E|SLC12A4_ENST00000316341.3_Missense_Mutation_p.D27E|SLC12A4_ENST00000576616.1_Missense_Mutation_p.D27E	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	0					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCTCCCCGTAGTCCACCCAAC	0.741000													6	56					0.00116845	0.00118946	1	1	0
MSL3P1	151507	broad.mit.edu	37	2	234776993	234776993	+	RNA	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:234776993C>A	ENST00000438684.1	-	0	97					NR_024322.1																						AGGCCTCCTCCGTCGGCGGCT	0.716000													3	1					0.115264	0.115264	1	1	0
CTNNA3	29119	broad.mit.edu	37	10	67829086	67829086	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr10:67829086C>A	ENST00000433211.2	-	15	2313	c.2139G>T	c.(2137-2139)atG>atT	p.M713I	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.M713I	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTGTCATCTCCATCATGATCA	0.363000													40	98					1.30475e-32	1.49491e-32	1	1	0
LRIF1	55791	broad.mit.edu	37	1	111495160	111495160	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:111495160C>G	ENST00000369763.4	-	2	736	c.346G>C	c.(346-348)Gaa>Caa	p.E116Q	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_5'UTR	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CTACCTTTTTCTGATGTATCT	0.383000													36	47					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139395037	139395037	+	Silent	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr9:139395037C>T	ENST00000277541.6	-	31	5976	c.5901G>A	c.(5899-5901)gcG>gcA	p.A1967A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1967					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGACACAGCCGCATGCAGCG	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			27	185					0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224822290	224822290	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:224822290G>A	ENST00000258383.3	+	1	170	c.101G>A	c.(100-102)gGa>gAa	p.G34E		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	34					RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GTGAAGAAGGGATTCCGCGCC	0.682000													12	84					0	0	1	0	0
ZFAND6	54469	broad.mit.edu	37	15	80414101	80414101	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr15:80414101G>A	ENST00000261749.6	+	4	624	c.202G>A	c.(202-204)Gat>Aat	p.D68N	ZFAND6_ENST00000559835.1_Missense_Mutation_p.D68N|ZFAND6_ENST00000559157.1_Missense_Mutation_p.D56N|ZFAND6_ENST00000558688.1_Missense_Mutation_p.D68N|ZFAND6_ENST00000558494.1_Missense_Mutation_p.D68N|ZFAND6_ENST00000559775.1_Missense_Mutation_p.D68N|ZFAND6_ENST00000558087.1_Missense_Mutation_p.D68N|ZFAND6_ENST00000561060.1_Missense_Mutation_p.D68N	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	68	Ser-rich.						DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TCAATGCACAGATGGCAGTGT	0.423000													5	21					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440700	99440700	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr8:99440700C>G	ENST00000287042.4	+	2	843	c.493C>G	c.(493-495)Ccc>Gcc	p.P165A	KCNS2_ENST00000521839.1_Missense_Mutation_p.P165A	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	165						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CGATGGGCAGCCCCTCGGCAA	0.602000													6	79					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33686800	33686800	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:33686800C>T	ENST00000539981.1	-	1	7	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	CLASP2_ENST00000482896.1_Intron|CLASP2_ENST00000461133.3_Intron|CLASP2_ENST00000487200.1_Missense_Mutation_p.R3Q|CLASP2_ENST00000399362.4_Intron|CLASP2_ENST00000468888.2_Intron|CLASP2_ENST00000480013.1_Intron|CLASP2_ENST00000359576.5_Intron|CLASP2_ENST00000307312.7_Intron|CLASP2_ENST00000313350.6_Missense_Mutation_p.R3Q			B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	0										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GCAAATCAGTCGCCTCATTCC	0.438000													22	101					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73679650	73679650	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:73679650C>T	ENST00000264448.6	+	8	6104	c.5993C>T	c.(5992-5994)tCa>tTa	p.S1998L	ALMS1_ENST00000377715.1_Missense_Mutation_p.S1998L|ALMS1_ENST00000409009.1_Missense_Mutation_p.S1956L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1998	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTCAAGATTTCAACTGTGCAT	0.408000													46	130					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201477419	201477419	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:201477419G>T	ENST00000374700.2	+	14	1592	c.1351G>T	c.(1351-1353)Gaa>Taa	p.E451*	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	451					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)	CTTTTTTGGAGAAGGGGATGG	0.473000													19	73					8.28177e-16	9.04919e-16	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13793680	13793680	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr5:13793680T>A	ENST00000265104.4	-	49	8272	c.8168A>T	c.(8167-8169)cAg>cTg	p.Q2723L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2723	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATAGAGAACTGCCTCTTGAG	0.498000									Kartagener syndrome				50	59					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21831229	21831229	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr14:21831229C>T	ENST00000216297.2	-	13	1813	c.1475G>A	c.(1474-1476)cGa>cAa	p.R492Q		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	492					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTCAGTCAATCGCCTCTTTGC	0.433000													46	36					0	0	1	0	0
MSL3P1	151507	broad.mit.edu	37	2	234776992	234776992	+	RNA	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:234776992C>G	ENST00000438684.1	-	0	98					NR_024322.1																						AAGGCCTCCTCCGTCGGCGGC	0.711000													3	1					0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54567012	54567012	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr19:54567012G>A	ENST00000338372.2	-	1	195	c.20C>T	c.(19-21)tCc>tTc	p.S7F	VSTM1_ENST00000376626.1_Missense_Mutation_p.S7F|VSTM1_ENST00000425006.2_Missense_Mutation_p.S7F|VSTM1_ENST00000366170.2_5'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	7						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GCAAAGCAGGGAGAGGAATTC	0.607000													64	160					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237872220	237872220	+	Silent	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:237872220T>C	ENST00000366574.2	+	69	10281	c.9964T>C	c.(9964-9966)Tta>Cta	p.L3322L	RYR2_ENST00000542537.1_Silent_p.L3306L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.L3320L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3322					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)			TTTCTTGCCGTTAATGGAGAA	0.438000													21	17					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652005	121652005	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr7:121652005A>T	ENST00000393386.2	+	12	3316	c.2905A>T	c.(2905-2907)Ata>Tta	p.I969L	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	969					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCCTAGCCATATACCAATACC	0.463000													50	35					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237632487	237632487	+	Splice_Site	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:237632487G>A	ENST00000366574.2	+	17	2025	c.1708G>A	c.(1708-1710)Ggc>Agc	p.G570S	RYR2_ENST00000542537.1_Splice_Site_p.G554S|RYR2_ENST00000360064.6_Splice_Site_p.G568S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	570					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)			AGCTTCTTCAGGTATGTTTTC	0.358000													30	31					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45542577	45542577	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr14:45542577G>A	ENST00000361462.2	+	20	5318	c.5135G>A	c.(5134-5136)gGa>gAa	p.G1712E	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.G1659E			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1659							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CATCTCTTAGGAAATATGACA	0.388000													6	22					0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92613275	92613275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:92613275G>T	ENST00000342818.3	+	9	1290	c.1054G>T	c.(1054-1056)Gag>Tag	p.E352*	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	352						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		GTTTTGGTCTGAGAGAAGCTT	0.299000													4	34					0.00024832	0.000254618	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52320772	52320772	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr8:52320772C>T	ENST00000356297.4	-	17	3512	c.3412G>A	c.(3412-3414)Gct>Act	p.A1138T	PXDNL_ENST00000543296.1_Missense_Mutation_p.A1138T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1138					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATGGTGGCAGCCGAATCCACG	0.522000													14	187					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166915565	166915565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr4:166915565G>A	ENST00000061240.2	+	4	1041	c.394G>A	c.(394-396)Gta>Ata	p.V132I	TLL1_ENST00000513213.1_Missense_Mutation_p.V132I|TLL1_ENST00000507499.1_Missense_Mutation_p.V132I	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	132					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.V132L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TAAGGGAAAAGTACCTCTACA	0.413000													5	21					0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68119288	68119288	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr15:68119288G>A	ENST00000380035.2	+	2	1180	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	SKOR1_ENST00000554054.1_Silent_p.V346V|SKOR1_ENST00000341418.5_Silent_p.V481V|SKOR1_ENST00000554240.1_Silent_p.V335V|SKOR1_ENST00000389002.1_Silent_p.V330V			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	374					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GCTACCCGGTGATCCCGGTGC	0.697000													7	13					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84027905	84027905	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:84027905T>C	ENST00000280241.8	-	1	283	c.284A>G	c.(283-285)cAt>cGt	p.H95R	DLG2_ENST00000532653.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.H95R|DLG2_ENST00000398309.2_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCAGGTACAATGCTCCCCACA	0.537000													11	26					0	0	1	0	0
YIPF3	25844	broad.mit.edu	37	6	43481336	43481336	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr6:43481336T>C	ENST00000372422.2	-	4	613	c.431A>G	c.(430-432)aAc>aGc	p.N144S	YIPF3_ENST00000506469.1_Missense_Mutation_p.N150S	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	144					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CTGGGGGAAGTTGACCATCTT	0.572000													28	30					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605550	171605550	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:171605550C>G	ENST00000037502.6	-	3	1101	c.1030G>C	c.(1030-1032)Gtc>Ctc	p.V344L		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response		Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TATCTTATGACAGTTCTGGAC	0.537000													19	146					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	403791	403791	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr10:403791C>T	ENST00000280886.6	-	23	2968	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	DIP2C_ENST00000540204.1_Missense_Mutation_p.E282K|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	961						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCGTTATCTTCGATCTGACCC	0.602000													37	46					0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217793546	217793546	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:217793546C>T	ENST00000366935.3	-	2	462	c.352G>A	c.(352-354)Gat>Aat	p.D118N	GPATCH2_ENST00000366934.3_Missense_Mutation_p.D118N	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	118						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		ATTTGGTCATCAGAGTCACTG	0.388000													8	78					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44182246	44182246	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr21:44182246C>T	ENST00000291539.6	+	14	1199	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	PDE9A_ENST00000380328.2_Missense_Mutation_p.P327L|PDE9A_ENST00000328862.6_Missense_Mutation_p.P354L|PDE9A_ENST00000398224.3_Missense_Mutation_p.P253L|PDE9A_ENST00000335440.6_Missense_Mutation_p.P278L|PDE9A_ENST00000398236.3_Missense_Mutation_p.P294L|PDE9A_ENST00000349112.3_Missense_Mutation_p.P252L|PDE9A_ENST00000335512.4_Missense_Mutation_p.P320L|PDE9A_ENST00000398229.3_Missense_Mutation_p.P246L|PDE9A_ENST00000398232.3_Missense_Mutation_p.P313L|PDE9A_ENST00000398234.3_Missense_Mutation_p.P279L|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Missense_Mutation_p.P339L|PDE9A_ENST00000398227.3_Missense_Mutation_p.P220L|PDE9A_ENST00000539837.1_Missense_Mutation_p.P252L	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	380	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GACATCTCACCGCTGGAGAAC	0.602000													4	82					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123979304	123979304	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr5:123979304A>G	ENST00000306315.5	-	6	4631	c.4196T>C	c.(4195-4197)gTc>gCc	p.V1399A	ZNF608_ENST00000513985.1_5'UTR|ZNF608_ENST00000504926.1_Missense_Mutation_p.V972A	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1399						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)		GCTGGTATTGACTTTCTCTGT	0.458000													14	22					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72123472	72123472	+	Silent	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr8:72123472C>T	ENST00000340726.3	-	17	2256	c.1617G>A	c.(1615-1617)gaG>gaA	p.E539E	EYA1_ENST00000388742.4_Silent_p.E539E|EYA1_ENST00000388740.3_Silent_p.E506E|EYA1_ENST00000388743.2_Silent_p.E538E|EYA1_ENST00000419131.1_Silent_p.E504E|EYA1_ENST00000388741.2_Silent_p.E505E|EYA1_ENST00000303824.7_Silent_p.E533E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	539					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAATTATTCTCTCAAAACAGC	0.333000													36	196					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70594456	70594456	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr16:70594456G>A	ENST00000302516.5	+	16	2306	c.2095G>A	c.(2095-2097)Gtg>Atg	p.V699M		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	699					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GTCCCGTCCTGTGAAGCTCTT	0.527000													21	80					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118503550	118503550	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr5:118503550G>C	ENST00000311085.8	+	23	5469	c.5389G>C	c.(5389-5391)Gag>Cag	p.E1797Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.E1797Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1797										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACCTATCAGAGAGAATGATGG	0.353000													11	8					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19489476	19489476	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:19489476G>A	ENST00000538714.1	+	18	2345	c.2341G>A	c.(2341-2343)Gat>Aat	p.D781N	PLEKHA5_ENST00000539256.1_Missense_Mutation_p.D481N|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.D781N|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.D654N|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.D642N|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.D723N|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.D826N|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.D723N|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.D723N	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	723							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GAGAGAATATGATAAGTTAGA	0.348000													7	63					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155732475	155732475	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr6:155732475C>G	ENST00000159060.2	-	11	1430	c.1328G>C	c.(1327-1329)tGc>tCc	p.C443S		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	443							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGCATCCCGGCAAATCCAGTA	0.413000													5	39					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56558280	56558280	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:56558280G>A	ENST00000550164.1	-	28	3482	c.3468C>T	c.(3466-3468)ttC>ttT	p.F1156F	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_Silent_p.F1125F|RP11-977G19.5_ENST00000553176.1_RNA			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1125	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGCCCGGGGCGAACGGGAGAT	0.587000													58	87					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2136340	2136340	+	Silent	SNP	C	C	T	rs147578602		TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr16:2136340C>T	ENST00000219476.3	+	37	5439	c.4809C>T	c.(4807-4809)gaC>gaT	p.D1603D	TSC2_ENST00000350773.4_Silent_p.D1580D|TSC2_ENST00000401874.2_Silent_p.D1536D|TSC2_ENST00000568454.1_Silent_p.D1547D|TSC2_ENST00000382538.6_Silent_p.D1488D|TSC2_ENST00000353929.4_Silent_p.D1560D|TSC2_ENST00000439673.2_Silent_p.D1500D	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1603	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GTGGTGAGGACGGCCAGTTCA	0.657000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				19	42					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13438885	13438885	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:13438885C>A	ENST00000254508.5	-	3	490	c.408G>T	c.(406-408)gaG>gaT	p.E136D		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	136					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGATCTTCAGCTCCAGGGGGG	0.607000													13	69					0.00010058	0.000103884	1	1	0
MZT2A	653784	broad.mit.edu	37	2	132241740	132241740	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:132241740C>T	ENST00000309451.6	-	3	416	c.371G>A	c.(370-372)cGc>cAc	p.R124H	MZT2A_ENST00000410036.2_5'UTR	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	124						centrosome|gamma-tubulin ring complex|spindle				breast(1)|lung(1)	2						GTGGTTGCTGCGTTCCGCCAG	0.637000													26	105					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48676977	48676977	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr17:48676977G>A	ENST00000352832.5	+	16	3750	c.3378G>A	c.(3376-3378)gaG>gaA	p.E1126E	CACNA1G_ENST00000502264.1_Silent_p.E1126E|CACNA1G_ENST00000513689.2_Silent_p.E1149E|CACNA1G_ENST00000507609.1_Silent_p.E1149E|CACNA1G_ENST00000515411.1_Silent_p.E1149E|CACNA1G_ENST00000513964.1_Silent_p.E1149E|CACNA1G_ENST00000503485.1_Silent_p.E1149E|CACNA1G_ENST00000515765.1_Silent_p.E1149E|CACNA1G_ENST00000512389.1_Silent_p.E1149E|CACNA1G_ENST00000514717.1_Silent_p.E1126E|CACNA1G_ENST00000360761.4_Silent_p.E1126E|CACNA1G_ENST00000515165.1_Silent_p.E1149E|CACNA1G_ENST00000507510.2_Silent_p.E1149E|CACNA1G_ENST00000358244.5_Silent_p.E1126E|CACNA1G_ENST00000442258.2_Silent_p.E1126E|CACNA1G_ENST00000429973.2_Silent_p.E1149E|CACNA1G_ENST00000505165.1_Silent_p.E1149E|CACNA1G_ENST00000354983.4_Silent_p.E1126E|CACNA1G_ENST00000416767.4_Silent_p.E1149E|CACNA1G_ENST00000510366.1_Silent_p.E1149E|CACNA1G_ENST00000507896.1_Silent_p.E1149E|CACNA1G_ENST00000514181.1_Silent_p.E1149E|CACNA1G_ENST00000359106.5_Silent_p.E1149E|CACNA1G_ENST00000510115.1_Silent_p.E1126E|CACNA1G_ENST00000514079.1_Silent_p.E1149E|CACNA1G_ENST00000507336.1_Silent_p.E1149E	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1149					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGAAGAGGAGCGGGCCAGCC	0.657000													10	34					0	0	1	0	0
C12orf55	144535	broad.mit.edu	37	12	97102420	97102420	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:97102420C>T	ENST00000524981.4	+	48	6586	c.6563C>T	c.(6562-6564)gCa>gTa	p.A2188V						chromosome 12 open reading frame 55																		GGCTTGCCTGCAGTTCTGGTT	0.303000													22	26					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021837	132021837	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:132021837G>C	ENST00000356920.5	+	15	2903	c.2809G>C	c.(2809-2811)Gag>Cag	p.E937Q	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	937	Actin-like.						ATP binding	p.E937K(1)									CTCCTCCCTAGAGAAGAGCTA	0.627000													58	235					0	0	1	0	0
OCLN	100506658	broad.mit.edu	37	5	68805247	68805247	+	Silent	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr5:68805247C>A	ENST00000355237.2	+	3	766	c.330C>A	c.(328-330)ggC>ggA	p.G110G	OCLN_ENST00000380766.2_Silent_p.G110G|OCLN_ENST00000396442.2_Silent_p.G110G|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000542132.1_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	110	Gly/Tyr-rich.|MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GAGGAAGTGGCTTTGGTAGCT	0.527000													17	67					1.02788e-11	1.11453e-11	1	1	0
CASP8AP2	9994	broad.mit.edu	37	6	90564591	90564591	+	RNA	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr6:90564591G>C	ENST00000551025.1	+	0	1617							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TATATGAAGAGATCCTGACTG	0.343000													7	22					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230461091	230461091	+	Silent	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:230461091C>T	ENST00000321327.2	-	8	1433	c.1434G>A	c.(1432-1434)ctG>ctA	p.L478L	PGBD5_ENST00000391860.1_Silent_p.L333L|PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000525115.1_Silent_p.L379L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	379						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGATGTAGCTCAGGTGAGCGG	0.532000													103	102					0	0	1	0	0
GXYLT2	727936	broad.mit.edu	37	3	73004478	73004478	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:73004478G>A	ENST00000389617.4	+	4	991	c.830G>A	c.(829-831)cGg>cAg	p.R277Q		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	277					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						AATTTAACTCGGATAAGAAGT	0.433000													9	35					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145657806	145657806	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr8:145657806G>A	ENST00000409379.3	-	23	3626	c.3597C>T	c.(3595-3597)aaC>aaT	p.N1199N		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1199					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTCCCAGGGCGTTGTAGGACA	0.667000													31	194					0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102589157	102589157	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:102589157G>C	ENST00000236826.3	-	5	870	c.772C>G	c.(772-774)Cag>Gag	p.Q258E		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	258					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		TAGATGGCCTGAATGCCATCG	0.488000													3	11					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	995085	995085	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr17:995085C>T	ENST00000544583.2	-	4	812	c.213G>A	c.(211-213)atG>atA	p.M71I	ABR_ENST00000302538.5_Missense_Mutation_p.M117I|ABR_ENST00000574437.1_Missense_Mutation_p.M71I|ABR_ENST00000291107.2_Missense_Mutation_p.M80I	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	117					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCAGGGGTTTCATGGGCTGGG	0.592000													22	106					0	0	1	0	0
DPPA5	340168	broad.mit.edu	37	6	74063703	74063703	+	Silent	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr6:74063703G>A	ENST00000370370.3	-	2	234	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	55	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						CCTTCAGCTCGAGCATGGCCT	0.587000													50	57					0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46280973	46280973	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr19:46280973G>C	ENST00000600757.1	-	6	1551	c.864C>G	c.(862-864)ttC>ttG	p.F288L	DMPK_ENST00000291270.4_Missense_Mutation_p.F278L|DMPK_ENST00000354227.5_Missense_Mutation_p.F278L|DMPK_ENST00000458663.2_Missense_Mutation_p.F278L|DMPK_ENST00000447742.2_Missense_Mutation_p.F278L|DMPK_ENST00000343373.4_Missense_Mutation_p.F288L			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	288	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		AATCCGCGTAGAAGGGCGTCT	0.642000													82	164					0	0	1	0	0
ZNF25	219749	broad.mit.edu	37	10	38241544	38241544	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr10:38241544G>C	ENST00000302609.7	-	6	1094	c.882C>G	c.(880-882)ttC>ttG	p.F294L	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TCCTAGAGAAGAATTTCCCAC	0.433000													10	63					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126402879	126402879	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr4:126402879T>C	ENST00000394329.3	+	15	12815	c.12802T>C	c.(12802-12804)Tac>Cac	p.Y4268H	FAT4_ENST00000335110.5_Missense_Mutation_p.Y2509H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4268	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGCAGCAATTACACTACTGT	0.423000													14	38					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49034173	49034173	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr15:49034173T>A	ENST00000380950.2	-	25	4147	c.3960A>T	c.(3958-3960)caA>caT	p.Q1320H	CEP152_ENST00000325747.5_Missense_Mutation_p.Q1227H|CEP152_ENST00000399334.3_Missense_Mutation_p.Q1264H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1264					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCAAAATCTGTTGGAGGCAAA	0.413000													22	87					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33423321	33423321	+	Silent	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr7:33423321C>T	ENST00000242067.6	+	18	2354	c.1833C>T	c.(1831-1833)ctC>ctT	p.L611L	BBS9_ENST00000354265.4_Silent_p.L576L|BBS9_ENST00000350941.3_Silent_p.L571L|BBS9_ENST00000355070.2_Silent_p.L606L|BBS9_ENST00000396127.2_Silent_p.L576L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	611					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATCTTTGGCTCATAACCAATG	0.338000									Bardet-Biedl syndrome				6	8					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116283482	116283482	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:116283482C>A	ENST00000410059.1	+	5	855	c.375C>A	c.(373-375)ttC>ttA	p.F125L	DPP10_ENST00000393147.2_Missense_Mutation_p.F129L|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.F75L|DPP10_ENST00000310323.8_Missense_Mutation_p.F118L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	125					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGGTAACCTTCAAAGCATCAA	0.284000													5	10					0.014758	0.0149161	1	1	0
FAM126A	84668	broad.mit.edu	37	7	22985519	22985519	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr7:22985519C>G	ENST00000432176.2	-	11	1487	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	419						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						GAGAGAAGCTCAAGATTCTCA	0.423000													51	46					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66259056	66259056	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:66259056C>T	ENST00000532677.1	+	8	1348	c.947C>T	c.(946-948)tCc>tTc	p.S316F	DPP3_ENST00000530165.1_Missense_Mutation_p.S267F|DPP3_ENST00000360510.2_Missense_Mutation_p.S297F|DPP3_ENST00000541961.1_Missense_Mutation_p.S297F|DPP3_ENST00000453114.1_Missense_Mutation_p.S297F|DPP3_ENST00000531863.1_Missense_Mutation_p.S317F	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	297					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AAGAGGGGCTCCCGCTTCTGG	0.652000											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	59					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109805452	109805452	+	Silent	SNP	G	G	C			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr1:109805452G>C	ENST00000271332.3	+	7	4630	c.4569G>C	c.(4567-4569)ctG>ctC	p.L1523L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1523	Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGGGCCCCTGCTACTAGGCG	0.672000													27	85					0	0	1	0	0
TGS1	96764	broad.mit.edu	37	8	56686266	56686266	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr8:56686266G>A	ENST00000260129.5	+	1	566	c.89G>A	c.(88-90)aGg>aAg	p.R30K		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	30					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CTTTGCTCCAGGGCATTTGTG	0.458000													6	65					0	0	1	0	0
AOC4P	90586	broad.mit.edu	37	17	41020643	41020643	+	RNA	SNP	T	T	A			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr17:41020643T>A	ENST00000585538.1	+	0	1482					NR_002773.1																						CTACTCCCACTACTTTGGGGG	0.532000													12	22					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	214012392	214012393	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr2:214012392_214012393delAC	ENST00000442445.1	-	3	253_254	c.196_197delGT	c.(196-198)gtcfs	p.V66fs	IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000374327.4_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGCTGGAGAGACACACACACAC	0.401													7	90	---	---	---	---					
PLCD1	5333	broad.mit.edu	37	3	38061753	38061754	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:38061753_38061754insAG	ENST00000463876.1	-	2	540_541	c.187_188insCT	c.(187-189)tacfs	p.Y63fs	PLCD1_ENST00000334661.4_Frame_Shift_Ins_p.Y42fs	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	42	PH.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTGCAACTTGTAGAAGCGCTCT	0.604													24	60	---	---	---	---					
ALG1L2	644974	broad.mit.edu	37	3	129814807	129814807	+	RNA	DEL	G	G	-	rs71158106		TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr3:129814807delG	ENST00000507643.1	+	0	456							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CACTCCCCTCGGGGGGTGTTG	0.607													3	4	---	---	---	---					
CCT6P1	643253	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	T	-			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr7:65226569delT	ENST00000442266.1	+	0	1167																											gcccggccCCttttttttttt	0.413													2	4	---	---	---	---					
MUC17	140453	broad.mit.edu	37	7	100681960	100681960	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr7:100681960delT	ENST00000306151.4	+	3	7327	c.7263delT	c.(7261-7263)cctfs	p.P2421fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2421	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCACAACTCCTGTTGACACCA	0.507													289	465	---	---	---	---					
ANK3	288	broad.mit.edu	37	10	61831368	61831368	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr10:61831368delT	ENST00000280772.2	-	37	9462	c.9271delA	c.(9271-9273)actfs	p.T3091fs	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACGGGTAAAGTTTTTATCTCT	0.408													31	163	---	---	---	---					
LOXL4	84171	broad.mit.edu	37	10	100019161	100019161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr10:100019161delC	ENST00000260702.3	-	5	838	c.688delG	c.(688-690)gacfs	p.D230fs		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	230	SRCR 2.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GACTTAGGGTCCCTCATCTTC	0.567													25	22	---	---	---	---					
HSPA12A	259217	broad.mit.edu	37	10	118460503	118460503	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr10:118460503delT	ENST00000369209.3	-	4	496	c.392delA	c.(391-393)aagfs	p.K131fs		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	131							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CAGCCACTGCTTGGCCTCATT	0.582													20	115	---	---	---	---					
MARK2	2011	broad.mit.edu	37	11	63671582	63671582	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:63671582delC	ENST00000402010.2	+	15	2218	c.1639delC	c.(1639-1641)cccfs	p.P548fs	MARK2_ENST00000377809.4_Frame_Shift_Del_p.P548fs|MARK2_ENST00000425897.2_Frame_Shift_Del_p.P468fs|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000408948.3_Intron|MARK2_ENST00000513765.2_Frame_Shift_Del_p.P515fs|MARK2_ENST00000350490.7_Intron|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000315032.8_Frame_Shift_Del_p.P548fs|MARK2_ENST00000509502.2_Frame_Shift_Del_p.P514fs|MARK2_ENST00000413835.2_Intron|MARK2_ENST00000502399.3_Frame_Shift_Del_p.P547fs|MARK2_ENST00000377810.3_Intron	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	548					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCTGGGCTGCCCCCCACGGA	0.687													8	10	---	---	---	---					
KRTAP5-11	440051	broad.mit.edu	37	11	71293671	71293671	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr11:71293671delC	ENST00000398530.1	-	1	250	c.213delG	c.(211-213)gggfs	p.G71fs	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	71	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTTGGAGCTCCCACAAGAGC	0.617													62	231	---	---	---	---					
KIF21A	55605	broad.mit.edu	37	12	39696876	39696876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:39696876delG	ENST00000395670.3	-	35	5044	c.4625delC	c.(4624-4626)cctfs	p.P1542fs	KIF21A_ENST00000544797.2_Frame_Shift_Del_p.P1504fs|KIF21A_ENST00000361961.3_Frame_Shift_Del_p.P1528fs|KIF21A_ENST00000361418.5_Frame_Shift_Del_p.P1541fs|KIF21A_ENST00000541463.2_Frame_Shift_Del_p.P1488fs			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1541					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATCATAATGAGGGGGTTCAAA	0.388													16	67	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56558395	56558397	+	In_Frame_Del	DEL	GGC	GGC	-	rs75924441	byFrequency	TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:56558395_56558397delGGC	ENST00000550164.1	-	28	3365_3367	c.3351_3353delGCC	c.(3349-3354)ccgcct>cct	p.1117_1118PP>P	SMARCC2_ENST00000347471.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.1086_1087PP>P			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1086	Pro-rich.			HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694).	chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGGAGGAGGAGGCGGCATGCCAA	0.581													14	41	---	---	---	---					
IRAK3	11213	broad.mit.edu	37	12	66610954	66610954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr12:66610954delA	ENST00000261233.4	+	6	1013	c.592delA	c.(592-594)aaafs	p.K199fs	IRAK3_ENST00000457197.2_Frame_Shift_Del_p.K138fs	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	199	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATGTAGGAGAAAAAAATGCA	0.363													7	1467	---	---	---	---					
TOX4	9878	broad.mit.edu	37	14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581													7	284	---	---	---	---					
PLEKHG3	26030	broad.mit.edu	37	14	65203590	65203604	+	In_Frame_Del	DEL	CAGGCAACTCAACGA	CAGGCAACTCAACGA	-			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr14:65203590_65203604delCAGGCAACTCAACGA	ENST00000247226.7	+	11	1505_1519	c.1197_1211delCAGGCAACTCAACGA	c.(1195-1212)ctcaggcaactcaacgag>ctg	p.RQLNE400del	PLEKHG3_ENST00000394691.1_In_Frame_Del_p.RQLNE456del	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	456					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.N403N(1)|p.Q401H(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AACACCTGCTCAGGCAACTCAACGAGAAAGGTGAG	0.628													9	23	---	---	---	---					
AP003900.6	0	broad.mit.edu	37	21	11181165	11181165	+	RNA	DEL	G	G	-			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr21:11181165delG	ENST00000603265.1	+	0	231																											AGGGTATCCTGGATGCGAGCT	0.498													10	408	---	---	---	---					
TPTEP1	387590	broad.mit.edu	37	22	17131536	17131537	+	RNA	INS	-	-	CTG	rs34452519		TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563																											TGCCCACTCTTCTGGTCTCATG	0.540													2	4	---	---	---	---					
ISX-AS1	101926957	broad.mit.edu	37	22	35411462	35411462	+	RNA	DEL	A	A	-			TCGA-DK-A6B2-01A-11D-A30E-08	TCGA-DK-A6B2-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce49c32-403b-4bc1-9184-ec12016ef096	1654d4f6-c0ea-4a54-85f4-ce8ee96f432f	g.chr22:35411462delA	ENST00000448318.4	-	0	836																											cctggaagagaaaaaggaTGC	0.522													2	4	---	---	---	---					
