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
SCN4A	6329	broad.mit.edu	37	17	62050100	62050100	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:62050100C>G	ENST00000578147.1	-	1	178	c.102G>C	c.(100-102)gaG>gaC	p.E34D	SCN4A_ENST00000435607.1_Missense_Mutation_p.E34D			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	34					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E34D(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGCCTCCTCCTCCACCGCCC	0.622000													16	22					0	0	0.500413	0	0
RNF6	6049	broad.mit.edu	37	13	26788080	26788080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:26788080G>A	ENST00000381588.4	-	5	2691	c.1939C>T	c.(1939-1941)Caa>Taa	p.Q647*	RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q291*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	647	Required for polyubiquitination (By similarity).				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q647*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CAAGGTAATTGCCTGAGCTTG	0.408000													82	39					0	0	0.870114	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45503102	45503102	+	Silent	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:45503102T>C	ENST00000291574.4	+	14	2332	c.2157T>C	c.(2155-2157)gcT>gcC	p.A719A		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	719					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.A719A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGGGGTGGCTCTGGAGGAGG	0.572000													62	217					0	0	0.870114	0	0
MEF2C	4208	broad.mit.edu	37	5	88027676	88027676	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr5:88027676A>G	ENST00000504921.2	-	7	1352	c.680T>C	c.(679-681)gTc>gCc	p.V227A	MEF2C_ENST00000514015.1_Missense_Mutation_p.V227A|MEF2C_ENST00000340208.5_Missense_Mutation_p.V245A|MEF2C_ENST00000437473.2_Missense_Mutation_p.V227A|MEF2C_ENST00000508569.1_Missense_Mutation_p.V227A|MEF2C_ENST00000506554.1_Missense_Mutation_p.V227A|MEF2C_ENST00000424173.2_Missense_Mutation_p.V225A|MEF2C_ENST00000510942.1_Missense_Mutation_p.V227A|MEF2C_ENST00000539796.1_Missense_Mutation_p.V179A|MEF2C_ENST00000514028.1_Missense_Mutation_p.V227A			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	227					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.V225A(1)|p.V227A(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ACCAGGTGAGACCAGCAGACC	0.413000										HNSCC(66;0.2)			28	45					0	0	0.693898	0	0
UGT1A8	0	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G	rs150485330		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3												p.T4A(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		CATGGCTCGCACAGGGTGGAC	0.562000													3	69					0	0	0.150653	0	0
PROZ	8858	broad.mit.edu	37	13	113824784	113824784	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:113824784A>C	ENST00000342783.4	+	8	704	c.697A>C	c.(697-699)Aat>Cat	p.N233H	PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000375547.2_Missense_Mutation_p.N211H	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	211	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	p.N211H(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AATACGGGAAAATTTTGTACT	0.303000													5	70					0	0	0.184627	0	0
REG4	83998	broad.mit.edu	37	1	120342381	120342381	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:120342381C>T	ENST00000354219.1	-	5	709	c.270G>A	c.(268-270)caG>caA	p.Q90Q	REG4_ENST00000530654.1_Silent_p.Q90Q|REG4_ENST00000256585.5_Silent_p.Q90Q	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	90	C-type lectin.					extracellular region	sugar binding	p.Q90Q(1)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TCCATATCGGCTGGCTTCTCT	0.522000													20	322					0	0	0.592651	0	0
ASB6	140459	broad.mit.edu	37	9	132400168	132400168	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:132400168C>T	ENST00000277458.4	-	6	1332	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P	ASB6_ENST00000450050.2_Silent_p.P310P|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	389	SOCS box.				intracellular signal transduction	cytoplasm		p.P389P(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CCACAGGCCACGGCTGAAGGT	0.597000													48	63					0	0	0.870114	0	0
MAML3	55534	broad.mit.edu	37	4	141074098	141074098	+	Silent	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:141074098G>T	ENST00000509479.2	-	1	1240	c.384C>A	c.(382-384)ggC>ggA	p.G128G		NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	128					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.G128G(4)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GTTTGCCGGTGCCGGCGCCCG	0.677000													5	31					0.000602214	0.000628116	0.184627	1	0
TACR3	6870	broad.mit.edu	37	4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:104511030C>T	ENST00000304883.2	-	5	1347	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	403						integral to plasma membrane	tachykinin receptor activity	p.V403M(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCTGGTCACGGTGTACATA	0.498000													166	232					0	0	0.870114	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		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	p.E542K(545)|p.E542Q(10)		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)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			60	61					0	0	0.870114	0	0
FCGR3A	2214	broad.mit.edu	37	1	161512867	161512867	+	Nonsense_Mutation	SNP	G	G	A	rs1042207	byFrequency	TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:161512867G>A	ENST00000367969.3	-	5	991	c.808C>T	c.(808-810)Cga>Tga	p.R270*	FCGR3A_ENST00000443193.1_Nonsense_Mutation_p.R269*|FCGR3A_ENST00000436743.1_Nonsense_Mutation_p.R234*|FCGR3A_ENST00000540048.1_Nonsense_Mutation_p.R234*	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	234					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	p.R270*(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTTGAGCTTCGAATGTTTGTC	0.443000													4	154					0	0	0.184627	0	0
RP1L1	94137	broad.mit.edu	37	8	10464916	10464916	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:10464916G>A	ENST00000382483.3	-	4	6915	c.6692C>T	c.(6691-6693)cCg>cTg	p.P2231L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2231					intracellular signal transduction			p.P2231L(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCAGCCTCCGGGGTCTCTAC	0.612000													128	52					0	0	0.870114	0	0
KLC2	64837	broad.mit.edu	37	11	66029325	66029325	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:66029325C>T	ENST00000417856.1	+	3	584	c.341C>T	c.(340-342)gCg>gTg	p.A114V	KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394067.2_Missense_Mutation_p.A114V|KLC2_ENST00000394065.2_5'UTR|KLC2_ENST00000394078.1_Missense_Mutation_p.A114V|KLC2_ENST00000316924.5_Missense_Mutation_p.A114V|KLC2_ENST00000421552.1_Intron	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	114					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.A114V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GAGGAGCTGGCGGGGACACAG	0.627000													3	49					0	0	0.115264	0	0
DEPDC1	55635	broad.mit.edu	37	1	68947728	68947728	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:68947728C>A	ENST00000456315.2	-	8	1877		c.e8+1		RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1						intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	p.?(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AACAGCCTTACTTTGTGTGCC	0.353000													87	111					1.5608e-48	1.82407e-48	0.870114	1	0
TNKS	8658	broad.mit.edu	37	8	9605603	9605603	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:9605603A>T	ENST00000310430.6	+	18	2739	c.2713A>T	c.(2713-2715)Act>Tct	p.T905S	TNKS_ENST00000518281.1_Missense_Mutation_p.T668S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	905					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.T905S(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GTGGGCGTTTACTCCCCTCCA	0.478000													63	36					0	0	0.870114	0	0
TBC1D2	55357	broad.mit.edu	37	9	100991289	100991289	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:100991289A>C	ENST00000375066.5	-	5	1014	c.923T>G	c.(922-924)gTg>gGg	p.V308G	TBC1D2_ENST00000342112.5_Missense_Mutation_p.V90G|TBC1D2_ENST00000375064.1_Missense_Mutation_p.V308G|TBC1D2_ENST00000493589.2_5'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	308	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	p.V308G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAGGCTGCCACTTTCTCCTG	0.542000													61	88					0	0	0.870114	0	0
OSBPL3	26031	broad.mit.edu	37	7	24874112	24874112	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr7:24874112T>C	ENST00000313367.2	-	15	2190	c.1739A>G	c.(1738-1740)gAa>gGa	p.E580G	OSBPL3_ENST00000409069.1_Missense_Mutation_p.E513G|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E513G|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E544G	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	580					lipid transport		lipid binding|protein binding	p.E580G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CACCATCCTTTCCAGGGGGCT	0.642000													66	116					0	0	0.870114	0	0
MAP7D2	256714	broad.mit.edu	37	X	20033399	20033399	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chrX:20033399C>T	ENST00000379651.3	-	11	1586	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	MAP7D2_ENST00000543767.1_Missense_Mutation_p.R408H|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R471H|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R478H|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R564H	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	523								p.R523H(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCTCTCGAGACGCATCTGTTC	0.463000													104	21					0	0	0.870114	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136554945	136554945	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:136554945C>T	ENST00000355849.5	+	3	666	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	86	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	p.R86C(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTCTCTGAAGCGTTTACAAGA	0.368000													87	369					0	0	0.870114	0	0
MYCBP2	23077	broad.mit.edu	37	13	77718680	77718680	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:77718680C>T	ENST00000407578.2	-	49	7469	c.7203G>A	c.(7201-7203)atG>atA	p.M2401I	MYCBP2_ENST00000357337.6_Missense_Mutation_p.M2363I|MYCBP2_ENST00000544440.2_Missense_Mutation_p.M2363I|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.M2363I(2)|p.M2401I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACGGATCAGCATATTCTCAC	0.368000													14	106					0	0	0.520397	0	0
HDAC6	10013	broad.mit.edu	37	X	48673411	48673411	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chrX:48673411C>T	ENST00000334136.5	+	14	1280	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	HDAC6_ENST00000376619.2_Missense_Mutation_p.H368Y|HDAC6_ENST00000444343.2_Missense_Mutation_p.H382Y			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	368	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.H368Y(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCAGCTAACCCACCTGCTCAT	0.642000													7	6					0	0	0.387290	0	0
KIF1A	547	broad.mit.edu	37	2	241658536	241658536	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:241658536G>A	ENST00000498729.2	-	47	5347	c.5101C>T	c.(5101-5103)Cgg>Tgg	p.R1701W	KIF1A_ENST00000320389.7_Missense_Mutation_p.R1600W	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1600					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.R1600W(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TAGGGGCGCCGCACCACCACG	0.622000													51	192					0	0	0.870114	0	0
ACBD5	91452	broad.mit.edu	37	10	27497258	27497258	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:27497258C>A	ENST00000396271.3	-	10	1447	c.1321G>T	c.(1321-1323)Gcc>Tcc	p.A441S	ACBD5_ENST00000375897.3_Missense_Mutation_p.A264S|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.A406S|ACBD5_ENST00000375901.1_Missense_Mutation_p.A332S|ACBD5_ENST00000375888.1_Missense_Mutation_p.A450S	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	450					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	p.A441S(1)|p.A406S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGCACGAGGGCGATCTGCTCA	0.572000													129	190					4.22663e-88	5.06152e-88	0.870114	1	0
MAP1S	55201	broad.mit.edu	37	19	17836873	17836873	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:17836873T>A	ENST00000324096.4	+	5	831	c.680T>A	c.(679-681)cTg>cAg	p.L227Q	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.L201Q	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	227	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	p.L227Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TTCGAGCTGCTGGAGCCCCCG	0.687000													32	25					0	0	0.834066	0	0
NEFM	4741	broad.mit.edu	37	8	24775968	24775968	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:24775968A>T	ENST00000221166.5	+	3	3382	c.2600A>T	c.(2599-2601)gAt>gTt	p.D867V	NEFM_ENST00000518131.1_Missense_Mutation_p.D649V|NEFM_ENST00000437366.2_Missense_Mutation_p.D828V|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_Missense_Mutation_p.D491V			P07197	NFM_HUMAN	neurofilament, medium polypeptide	867	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton	p.D867V(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GAGGGGGGAGATGGTGCTACC	0.438000													55	14					0	0	0.870114	0	0
ZNF517	340385	broad.mit.edu	37	8	146033227	146033227	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:146033227G>A	ENST00000359971.3	+	5	1033	c.926G>A	c.(925-927)cGc>cAc	p.R309H	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000531720.1_Missense_Mutation_p.R309H	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R309H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GAGCACGGCCGCATCCACAGC	0.682000													3	34					0	0	0.115264	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266097	41266097	+	Missense_Mutation	SNP	G	G	C	rs28931588		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:41266097G>C	ENST00000349496.5	+	3	374	c.94G>C	c.(94-96)Gac>Cac	p.D32H	CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTCTTACCTGGACTCTGGAAT	0.478000	D32N(KE39_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				19	31					0	0	0.575678	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349140	30349140	+	Silent	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:30349140A>C	ENST00000327564.7	+	1	1117	c.1056A>C	c.(1054-1056)acA>acC	p.T352T	LRRC37B_ENST00000584368.1_Silent_p.T337T|LRRC37B_ENST00000394713.3_Silent_p.T325T|LRRC37B_ENST00000543378.2_Silent_p.T243T|LRRC37B_ENST00000341671.7_Silent_p.T325T			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	325						integral to membrane		p.T325T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATGAAGTGACAGTTCAACCTC	0.483000													70	105					0	0	0.870114	0	0
GPR123	84435	broad.mit.edu	37	10	134942935	134942935	+	Silent	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:134942935T>C	ENST00000607359.1	+	16	3760	c.3760T>C	c.(3760-3762)Ttg>Ctg	p.L1254L	GPR123_ENST00000392606.2_Silent_p.L438L|GPR123_ENST00000392607.3_Silent_p.L535L			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	535						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L1254L(1)|p.L535L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CAAGGGTAAATTGCTAGAAGG	0.632000													16	18					0	0	0.479597	0	0
NAAA	27163	broad.mit.edu	37	4	76861916	76861916	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:76861916C>G	ENST00000286733.4	-	1	288	c.187G>C	c.(187-189)Gcg>Ccg	p.A63P	NAAA_ENST00000507956.1_Missense_Mutation_p.A63P|NAAA_ENST00000507187.2_Missense_Mutation_p.A63P|NAAA_ENST00000399497.3_Missense_Mutation_p.A63P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	63					lipid metabolic process	lysosome	hydrolase activity	p.A63P(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						TGCGCCATCGCGGCGCGCACC	0.706000													14	53					0	0	0.479597	0	0
UNC79	57578	broad.mit.edu	37	14	94004551	94004551	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr14:94004551G>T	ENST00000553484.1	+	12	1493	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	UNC79_ENST00000555664.1_Nonsense_Mutation_p.E447*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.E270*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.E447*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	447						integral to membrane		p.E447*(1)|p.E270*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGCGCCGTGGAAGCCGTGAT	0.557000													16	15					1.67942e-08	1.79015e-08	0.539581	1	0
IRGQ	126298	broad.mit.edu	37	19	44099377	44099377	+	Silent	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:44099377G>A	ENST00000422989.1	-	2	269	c.114C>T	c.(112-114)ccC>ccT	p.P38P	IRGQ_ENST00000602269.1_Silent_p.P38P	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	38							protein binding	p.P38P(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCCGTCCCTCGGGGGCCTCGA	0.711000													23	48					0	0	0.608945	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136554944	136554944	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:136554944G>T	ENST00000355849.5	+	3	665	c.255G>T	c.(253-255)aaG>aaT	p.K85N	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	85	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	p.K85N(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ATTCTCTGAAGCGTTTACAAG	0.368000													87	366					2.32385e-29	2.59096e-29	0.870114	1	0
CELSR3	1951	broad.mit.edu	37	3	48677786	48677786	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:48677786G>A	ENST00000544264.1	-	35	9527	c.9247C>T	c.(9247-9249)Cgg>Tgg	p.R3083W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R3078W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3078					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.R3078W(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCAGTTGCCGCCGGAGGAGC	0.647000													51	81					0	0	0.870114	0	0
ACVRL1	94	broad.mit.edu	37	12	52310003	52310003	+	Missense_Mutation	SNP	G	G	A	rs121909284		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:52310003G>A	ENST00000550683.1	+	7	1375	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q	ACVRL1_ENST00000388922.4_Missense_Mutation_p.R411Q|ACVRL1_ENST00000419526.2_Missense_Mutation_p.R237Q	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	411	Protein kinase.		F -> L (in HHT2).|F -> V (in HHT2).|Missing (in HHT2).		blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.R411Q(3)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ATTGCCCGCCGGACCATCGTG	0.627000													26	37					0	0	0.706142	0	0
MYO5C	55930	broad.mit.edu	37	15	52571856	52571856	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:52571856C>G	ENST00000261839.7	-	3	315	c.154G>C	c.(154-156)Gtc>Ctc	p.V52L	MYO5C_ENST00000443683.2_5'UTR|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	52	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V52L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTGGATTGACAGAATAATCC	0.468000													29	30					0	0	0.706142	0	0
MYH7B	57644	broad.mit.edu	37	20	33575571	33575571	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr20:33575571G>T	ENST00000262873.7	+	16	1488	c.1396G>T	c.(1396-1398)Gtg>Ttg	p.V466L		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	424	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.V466L(1)		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)			CCTCCAGGTGGTGTTTGCTGT	0.662000													6	171					0.000673444	0.000694937	0.361761	1	0
THSD4	79875	broad.mit.edu	37	15	72039268	72039268	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:72039268C>A	ENST00000355327.3	+	13	2262	c.2128C>A	c.(2128-2130)Cgc>Agc	p.R710S	THSD4_ENST00000357769.4_Missense_Mutation_p.R350S|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R710S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	710	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity	p.R710S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTACGCCAACCGCAGCCTGAC	0.637000													3	45					0.115264	0.117691	0.115264	1	0
FGFR1OP2	26127	broad.mit.edu	37	12	27109591	27109591	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:27109591A>G	ENST00000229395.3	+	3	593	c.251A>G	c.(250-252)aAa>aGa	p.K84R	FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.K84R|FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.K84R	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	84						cytoplasm		p.K84R(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					CAAGAAAACAAAGGTAAGATA	0.388000													35	67					0	0	0.804634	0	0
LILRA4	23547	broad.mit.edu	37	19	54848198	54848198	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:54848198G>A	ENST00000291759.4	-	6	1225	c.1169C>T	c.(1168-1170)gCg>gTg	p.A390V	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	390	Ig-like C2-type 4.					integral to membrane	receptor activity	p.A390V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTAGGTCCCCGCGTGGGCTGA	0.622000													86	130					0	0	0.870114	0	0
IWS1	55677	broad.mit.edu	37	2	128262862	128262862	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:128262862G>A	ENST00000295321.4	-	3	876	c.617C>T	c.(616-618)cCt>cTt	p.P206L	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.P213L	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	206	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding	p.P206L(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACTCATTCGAGGTTTGGGAGG	0.493000													101	250					0	0	0.870114	0	0
GLI1	2735	broad.mit.edu	37	12	57864730	57864730	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:57864730A>T	ENST00000228682.2	+	12	2298	c.2207A>T	c.(2206-2208)gAa>gTa	p.E736V	GLI1_ENST00000546141.1_Missense_Mutation_p.E695V|GLI1_ENST00000543426.1_Missense_Mutation_p.E608V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	736					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.E736V(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGGGGACCTGAAGGGGCAGCA	0.602000													69	129					0	0	0.870114	0	0
MTTP	4547	broad.mit.edu	37	4	100534280	100534280	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:100534280C>A	ENST00000457717.1	+	16	2456	c.2200C>A	c.(2200-2202)Cta>Ata	p.L734I	MTTP_ENST00000265517.5_Missense_Mutation_p.L734I|MTTP_ENST00000511045.1_Missense_Mutation_p.L761I|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	734					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.L734I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ACTTATTCTGCTAATAGATCA	0.408000													39	34					9.45814e-24	1.04255e-23	0.804634	1	0
CXCR2P1	0	broad.mit.edu	37	2	218925510	218925510	+	RNA	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:218925510G>A	ENST00000439871.1	-	0	870					NR_002712.1																						GGCAGGATCCGTAACAGCATC	0.522000													71	44					0	0	0.870114	0	0
ARID4B	51742	broad.mit.edu	37	1	235490233	235490233	+	Translation_Start_Site	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:235490233A>C	ENST00000264183.3	-	2	499	c.2T>G	c.(1-3)aTg>aGg	p.M1R	ARID4B_ENST00000366603.2_Start_Codon_SNP_p.M1R|ARID4B_ENST00000349213.3_Start_Codon_SNP_p.M1R	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.M1R(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTTACCTTCATGATGACTCT	0.522000													136	28					0	0	0.870114	0	0
DCBLD1	285761	broad.mit.edu	37	6	117824981	117824981	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:117824981C>G	ENST00000338728.5	+	2	284	c.164C>G	c.(163-165)tCt>tGt	p.S55C	DCBLD1_ENST00000368503.4_Missense_Mutation_p.S55C|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.S55C			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	55	CUB.				cell adhesion	integral to membrane		p.S55C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		ACAATGACATCTAAGAATTAT	0.428000													65	99					0	0	0.870114	0	0
CCDC41	51134	broad.mit.edu	37	12	94763729	94763729	+	Silent	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:94763729T>C	ENST00000397809.5	-	9	1566	c.1017A>G	c.(1015-1017)agA>agG	p.R339R	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Silent_p.R306R|CCDC41_ENST00000339839.5_Silent_p.R339R|CCDC41_ENST00000547575.1_Silent_p.R339R	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	331								p.R339R(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TATTCCTTTCTCTTTCTAGCT	0.333000													5	411					0	0	0.184627	0	0
ANK2	287	broad.mit.edu	37	4	114186063	114186063	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:114186063C>T	ENST00000357077.4	+	14	1450	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M	ANK2_ENST00000264366.6_Missense_Mutation_p.T466M|ANK2_ENST00000394537.3_Missense_Mutation_p.T466M|ANK2_ENST00000506722.1_Missense_Mutation_p.T445M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	466					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T466M(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGTGGTGAGACGGCACTACAC	0.517000													3	5					0	0	0.115264	0	0
PIWIL1	9271	broad.mit.edu	37	12	130839528	130839528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:130839528C>T	ENST00000245255.3	+	11	1539	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	423					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.R423*(2)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGAAGTGGGACGACTCATTGA	0.383000													114	180					0	0	0.870114	0	0
ENPP1	5167	broad.mit.edu	37	6	132195477	132195477	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:132195477A>G	ENST00000360971.2	+	16	1655	c.1635_splice	c.e16+1	p.Q545_splice		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	545	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	p.Q493Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAAATATGCAAGTGAGTAAAC	0.279000													10	252					0	0	0.361761	0	0
ACKR3	57007	broad.mit.edu	37	2	237489879	237489879	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:237489879C>T	ENST00000272928.3	+	2	1081	c.771C>T	c.(769-771)taC>taT	p.Y257Y		NM_020311.2	NP_064707.1			atypical chemokine receptor 3									p.Y257Y(1)									TCTTCTCCTACGTGGTGGTCT	0.582000													164	133					0	0	0.870114	0	0
CYP7B1	9420	broad.mit.edu	37	8	65537016	65537016	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:65537016C>A	ENST00000310193.3	-	2	376	c.203G>T	c.(202-204)aGg>aTg	p.R68M		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	68					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.R68M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTTCATGAACCTTAAGGGGTC	0.383000													84	383					4.92795e-40	5.62366e-40	0.870114	1	0
GTF2H1	2965	broad.mit.edu	37	11	18362866	18362866	+	Silent	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:18362866A>G	ENST00000265963.4	+	6	826	c.666A>G	c.(664-666)acA>acG	p.T222T	GTF2H1_ENST00000453096.2_Silent_p.T222T|GTF2H1_ENST00000524753.4_Silent_p.T18T|GTF2H1_ENST00000534641.1_Silent_p.T106T	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	222	BSD 2.				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	p.T222T(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AATTCTGGACACGTTTTTTCC	0.363000								Nucleotide excision repair (NER)					53	99					0	0	0.870114	0	0
TRPM1	4308	broad.mit.edu	37	15	31294406	31294406	+	Silent	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:31294406G>A	ENST00000542188.1	-	27	4861	c.4548C>T	c.(4546-4548)atC>atT	p.I1516I	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.I1499I|TRPM1_ENST00000397795.2_Silent_p.I1477I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1477					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.I1477I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GAGAGCGCGTGATCTTTTGAA	0.478000													12	452					0	0	0.457914	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153274900	153274900	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:153274900C>A	ENST00000290722.1	-	5	765	c.713G>T	c.(712-714)tGt>tTt	p.C238F		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	238					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.C238F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCAATGTCACAAAAGTTCCG	0.473000													104	469					5.77035e-48	6.66338e-48	0.870114	1	0
CHAT	1103	broad.mit.edu	37	10	50854677	50854677	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:50854677A>T	ENST00000395562.2	+	9	1461	c.992A>T	c.(991-993)tAc>tTc	p.Y331F	CHAT_ENST00000395559.2_Missense_Mutation_p.Y295F|CHAT_ENST00000455728.2_Missense_Mutation_p.Y295F|CHAT_ENST00000337653.2_Missense_Mutation_p.Y413F|CHAT_ENST00000339797.1_Missense_Mutation_p.Y295F|CHAT_ENST00000351556.3_Missense_Mutation_p.Y295F	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	413					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.Y413F(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GGCGGAGGCTACAGCAAGAAC	0.632000													33	48					0	0	0.779181	0	0
CCNE2	9134	broad.mit.edu	37	8	95895044	95895044	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:95895044T>G	ENST00000520509.1	-	10	1160	c.908A>C	c.(907-909)cAt>cCt	p.H303P	CCNE2_ENST00000308108.4_Missense_Mutation_p.H303P|CCNE2_ENST00000396133.3_Missense_Mutation_p.H303P			O96020	CCNE2_HUMAN	cyclin E2	303					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	p.H303P(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGAGGTAAAATGGCACAAGGC	0.383000													89	371					0	0	0.870114	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	96					0	0	0.150653	0	0
PRSS55	203074	broad.mit.edu	37	8	10388864	10388864	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:10388864T>C	ENST00000328655.3	+	3	447	c.407T>C	c.(406-408)aTa>aCa	p.I136T	PRSS55_ENST00000522210.1_Missense_Mutation_p.I136T|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	136	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.I136T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TCCATGGAAATAAAGGAGGTC	0.517000													169	63					0	0	0.870114	0	0
MYO1H	283446	broad.mit.edu	37	12	109849777	109849777	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:109849777G>A	ENST00000310903.5	+	14	1547	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	MYO1H_ENST00000431443.2_Missense_Mutation_p.A491T			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity	p.A481T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GGGCAAACATGCACACTTCGA	0.398000													9	5					0	0	0.307466	0	0
ZIK1	284307	broad.mit.edu	37	19	58101497	58101497	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:58101497C>T	ENST00000597850.1	+	4	533	c.318C>T	c.(316-318)gtC>gtT	p.V106V	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Silent_p.V93V|ZIK1_ENST00000599456.1_Silent_p.V51V	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	106	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V106V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGATGTGTGTCCCAGTCCTGA	0.463000													50	81					0	0	0.870114	0	0
TGFBR3	7049	broad.mit.edu	37	1	92185486	92185486	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:92185486C>T	ENST00000212355.4	-	9	1842	c.1377G>A	c.(1375-1377)gaG>gaA	p.E459E	TGFBR3_ENST00000370399.2_Silent_p.E458E|TGFBR3_ENST00000525962.1_Silent_p.E459E	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	459	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.E459E(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGATCATCTTCTCATTGTCAC	0.502000													7	221					0	0	0.278610	0	0
SMAD4	4089	broad.mit.edu	37	18	48604690	48604690	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr18:48604690T>A	ENST00000342988.3	+	12	2050	c.1512T>A	c.(1510-1512)agT>agA	p.S504R	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.S408R|SMAD4_ENST00000398417.2_Missense_Mutation_p.S504R	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	504	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.S504R(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGGATGAGTTTTGTGAAAG	0.488000													7	69					0	0	0.278610	0	0
ADCK3	56997	broad.mit.edu	37	1	227153070	227153070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:227153070C>T	ENST00000366779.1	+	8	3318	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	ADCK3_ENST00000366777.3_Nonsense_Mutation_p.Q183*|ADCK3_ENST00000366776.1_Nonsense_Mutation_p.Q108*|ADCK3_ENST00000366775.1_Nonsense_Mutation_p.Q28*|ADCK3_ENST00000366778.1_Nonsense_Mutation_p.Q131*|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000458507.2_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	183					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	p.Q183*(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GAAGGCCCGGCAGGCTAAGGC	0.617000													30	3					0	0	0.750413	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958582	57958582	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:57958582T>G	ENST00000311591.3	+	1	677	c.620T>G	c.(619-621)aTg>aGg	p.M207R		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M207R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTTTTCGTCATGCCTGCCTGT	0.488000													57	95					0	0	0.870114	0	0
ABCA7	10347	broad.mit.edu	37	19	1058148	1058148	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:1058148C>T	ENST00000263094.6	+	37	5260	c.5029C>T	c.(5029-5031)Ctg>Ttg	p.L1677L	ABCA7_ENST00000435683.2_Silent_p.L1539L|ABCA7_ENST00000433129.1_Silent_p.L1677L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1677					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.L1677L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCAGAAGCTGCAGGAGGT	0.612000													38	10					0	0	0.788014	0	0
TRPS1	7227	broad.mit.edu	37	8	116426955	116426955	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:116426955C>T	ENST00000395715.3	-	7	3758	c.3181G>A	c.(3181-3183)Gat>Aat	p.D1061N	TRPS1_ENST00000220888.5_Missense_Mutation_p.D1048N|TRPS1_ENST00000519076.1_Missense_Mutation_p.D802N|TRPS1_ENST00000520276.1_Missense_Mutation_p.D1052N	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1048	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D1061N(2)|p.D1048N(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTCCTGGATCTCCAGTACTT	0.438000									Langer-Giedion syndrome				8	519					0	0	0.307466	0	0
COL27A1	85301	broad.mit.edu	37	9	117068939	117068939	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:117068939T>C	ENST00000356083.3	+	58	5469	c.5078T>C	c.(5077-5079)cTc>cCc	p.L1693P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1693	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent	p.L1693P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCAGGGACCTCATGGACTGT	0.582000											OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	58					0	0	0.740014	0	0
PM20D1	148811	broad.mit.edu	37	1	205817085	205817085	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:205817085G>T	ENST00000367136.4	-	2	228	c.184C>A	c.(184-186)Cca>Aca	p.P62T	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	62						extracellular region	metal ion binding|peptidase activity	p.P62T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTCACTGTTGGAATCTGGATG	0.408000													57	84					1.74474e-33	1.96791e-33	0.870114	1	0
GOLGA7B	401647	broad.mit.edu	37	10	99623791	99623791	+	Silent	SNP	C	C	T	rs138920879	byFrequency	TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:99623791C>T	ENST00000370602.1	+	3	308	c.243C>T	c.(241-243)tgC>tgT	p.C81C		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	81						Golgi membrane		p.C81C(1)		endometrium(1)|large_intestine(3)|prostate(1)	5						GCCTGGCCTGCGCCACGGCCT	0.617000													26	57					0	0	0.819951	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	54					0	0	0.150653	0	0
KRT25	147183	broad.mit.edu	37	17	38905556	38905556	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:38905556G>C	ENST00000312150.4	-	7	1257	c.1197C>G	c.(1195-1197)taC>taG	p.Y399*		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	399	Tail.					cytoplasm|intermediate filament	structural molecule activity	p.Y399*(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTTTAGACTTGTAACCCCCAG	0.353000													12	280					0	0	0.411799	0	0
ATG4C	84938	broad.mit.edu	37	1	63307165	63307165	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:63307165T>C	ENST00000317868.4	+	10	1363	c.1156T>C	c.(1156-1158)Ttt>Ctt	p.F386L	ATG4C_ENST00000371120.3_Missense_Mutation_p.F386L	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	386					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity	p.F386L(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TACAATAGGATTTTACTGTCG	0.303000													4	137					0	0	0.184627	0	0
AIM1	202	broad.mit.edu	37	6	106969054	106969054	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:106969054T>A	ENST00000369066.3	+	2	3234	c.2747T>A	c.(2746-2748)tTg>tAg	p.L916*		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	916							sugar binding	p.L916*(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CACTCCAGTTTGAAAAGTCCA	0.423000													11	167					0	0	0.387290	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	41					0	0	0.115264	0	0
DNASE2B	58511	broad.mit.edu	37	1	84867590	84867590	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:84867590delT	ENST00000370665.3	+	2	165	c.132delT	c.(130-132)acfs	p.T44fs		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	44					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TTAGGTTTACTTTTTATAAGT	0.348													4	7	---	---	---	---					
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	RNA	INS	-	-	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282													7	24	---	---	---	---					
PDE4DIP	9659	broad.mit.edu	37	1	144856960	144856961	+	In_Frame_Ins	INS	-	-	TTT			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:144856960_144856961insTTT	ENST00000369359.4	-	43	6970_6971	c.6932_6933insAAA	c.(6931-6933)aca>aAAAca	p.2311_2312insK	PDE4DIP_ENST00000369354.3_In_Frame_Ins_p.2175_2176insK|PDE4DIP_ENST00000369356.4_In_Frame_Ins_p.2175_2176insK|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_In_Frame_Ins_p.2069_2070insK|PDE4DIP_ENST00000530740.1_In_Frame_Ins_p.2260_2261insK			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2175					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCGGCCATGCTTATTGGCAAA	0.480			T	PDGFRB	MPD								17	134	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													3	6	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)ccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								8	617	---	---	---	---					
PLEKHA3	65977	broad.mit.edu	37	2	179358603	179358618	+	Frame_Shift_Del	DEL	CTGAAAACCAAAATGT	CTGAAAACCAAAATGT	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:179358603_179358618delCTGAAAACCAAAATGT	ENST00000234453.4	+	4	739_754	c.337_352delCTGAAAACCAAAATGT	c.(337-354)ctfs	p.LKTKMS113fs	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	113						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CAGTGAATCGCTGAAAACCAAAATGTCTGAACTTCG	0.333													34	81	---	---	---	---					
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs10656368	by1000genomes	TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579													7	4	---	---	---	---					
NR1D2	9975	broad.mit.edu	37	3	24001168	24001168	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:24001168delT	ENST00000312521.4	+	4	698	c.379delT	c.(379-381)ttfs	p.F127fs	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	127					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TTAGGGTTTCTTTCGGAGAAG	0.358													82	127	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)tfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													9	232	---	---	---	---					
RP11-1252I4.2	0	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													3	5	---	---	---	---					
RP11-628E19.3	0	broad.mit.edu	37	8	56442726	56442726	+	RNA	DEL	G	G	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:56442726delG	ENST00000518261.1	+	0	565																											aaggaaggaaggaaggaagga	0.418													4	5	---	---	---	---					
RP11-587H10.2	0	broad.mit.edu	37	8	93591561	93591562	+	RNA	INS	-	-	TTTC	rs34835405		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:93591561_93591562insTTTC	ENST00000523284.1	-	0	395																											ctttctttctttttctttcttt	0.312													3	5	---	---	---	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1267_splice	c.e12+1	p.L419_splice		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	419	Protein kinase.					integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													5	10	---	---	---	---					
FBXO34	55030	broad.mit.edu	37	14	55818554	55818555	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr14:55818554_55818555insT	ENST00000313833.4	+	2	1691_1692	c.1446_1447insT	c.(1444-1449)ttttttfs	p.FF482fs	FBXO34_ENST00000440021.1_Frame_Shift_Ins_p.FF482fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	482										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CAGGGATGTTGTTTTTTTTGCC	0.441													7	277	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578242	7578242	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:7578242delC	ENST00000420246.2	-	6	739	c.607delG	c.(607-609)tgfs	p.V203fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V203fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	203	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|VE -> LV (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.V203L(3)|p.V203fs*44(2)|p.V203M(2)|p.N200fs*4(1)|p.V203_E204>LV(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAATACTCCACACGCAAATTT	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	13	---	---	---	---					
SRSF2	6427	broad.mit.edu	37	17	74732433	74732456	+	In_Frame_Del	DEL	GACCGAGATCGAGAACGAGTGCGG	GACCGAGATCGAGAACGAGTGCGG	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:74732433_74732456delGACCGAGATCGAGAACGAGTGCGG	ENST00000392485.2	-	2	625_648	c.453_476delCCGCACTCGTTCTCGATCTCGGTC	c.(451-477)tcg>tc	p.SRTRSRSRS151del	MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_In_Frame_Del_p.SRTRSRSRS151del|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_In_Frame_Del_p.SRTRSRSRS139del	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	151	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|protein binding|RNA binding|transcription corepressor activity	p.R156R(1)|p.R136R(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CTTGGAGGTCGACCGAGATCGAGAACGAGTGCGGGACCGAGACT	0.661			Mis		"""MDS, CLL"""								25	231	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35195922	35195922	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:35195922delT	ENST00000381318.3	+	25	3436	c.3148delT	c.(3148-3150)tcfs	p.F1050fs	ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000399326.3_Intron|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F1008fs|ITSN1_ENST00000399355.2_Intron|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F1045fs|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1050	SH3 3.				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						GGCCGGAGTCTTCCCTTCTAA	0.473													71	115	---	---	---	---					
RRP1	8568	broad.mit.edu	37	21	45209622	45209636	+	In_Frame_Del	DEL	GCCAGGACTCAGCGG	GCCAGGACTCAGCGG	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:45209622_45209636delGCCAGGACTCAGCGG	ENST00000497547.1	+	1	229_243	c.112_126delGCCAGGACTCAGCGG	c.(112-126)del	p.ARTQR38del		NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	38					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		ATACATCGTCGCCAGGACTCAGCGGGCCGCAGGTT	0.749													4	3	---	---	---	---