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
ADAM21P1	145241	broad.mit.edu	37	14	70714093	70714093	+	RNA	SNP	C	C	G	rs77186629	by1000genomes	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:70714093C>G	ENST00000530196.1	-	0	425					NR_003951.1																						GGAGTGCACGCTCATCTGTGT	0.493000													4	53					0	0	0.00024832	0	0
CACNA1E	777	broad.mit.edu	37	1	181689945	181689945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:181689945C>T	ENST00000526775.1	+	15	2075	c.1910C>T	c.(1909-1911)tCg>tTg	p.S637L	CACNA1E_ENST00000360108.3_Missense_Mutation_p.S637L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S588L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S244L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S588L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S637L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S637L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	637					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGGACTCCTTCGGCAAATTTT	0.433000													6	9					0	0	0.000157383	0	0
ANK2	287	broad.mit.edu	37	4	114280158	114280158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:114280158G>A	ENST00000357077.4	+	38	10437	c.10384G>A	c.(10384-10386)Gaa>Aaa	p.E3462K	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E3429K|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3429					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCCACAAAAGAAAGTAAGGA	0.453000													6	2					0	0	0.00116845	0	0
TLR6	10333	broad.mit.edu	37	4	38829302	38829302	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:38829302A>C	ENST00000436693.2	-	2	1912	c.1793T>G	c.(1792-1794)tTg>tGg	p.L598W	TLR6_ENST00000381950.1_Missense_Mutation_p.L598W	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	598					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTCACAGCCAACACCAGCAT	0.522000													54	42					0	0	0.000781405	0	0
OR1L8	138881	broad.mit.edu	37	9	125330655	125330655	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:125330655G>A	ENST00000304865.2	-	1	183	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAGGTACACGATGAGGAAGA	0.498000													15	10					0	0	0.000219431	0	0
GRIA1	2890	broad.mit.edu	37	5	153077630	153077630	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:153077630G>A	ENST00000285900.5	+	9	1504	c.1161G>A	c.(1159-1161)aaG>aaA	p.K387K	GRIA1_ENST00000518783.1_Silent_p.K397K|GRIA1_ENST00000448073.4_Silent_p.K397K|GRIA1_ENST00000340592.5_Silent_p.K387K|GRIA1_ENST00000518142.1_Silent_p.K307K|GRIA1_ENST00000521843.2_Silent_p.K318K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	387					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGATGATAAGTTTGTCCCTG	0.502000													11	3					0	0	0.000308642	0	0
UPP1	7378	broad.mit.edu	37	7	48146546	48146546	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:48146546C>T	ENST00000331803.4	+	8	1136	c.513C>T	c.(511-513)gtC>gtT	p.V171V	UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Silent_p.V171V|UPP1_ENST00000429491.2_Silent_p.V34V|UPP1_ENST00000395564.4_Silent_p.V171V			Q16831	UPP1_HUMAN	uridine phosphorylase 1	171					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						AGCAGATTGTCCTGGGGAAGC	0.542000													28	118					0	0	0.00127121	0	0
PARP4	143	broad.mit.edu	37	13	25021281	25021281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr13:25021281G>A	ENST00000381989.3	-	26	3263	c.3158C>T	c.(3157-3159)tCt>tTt	p.S1053F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1053					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GACGGAGACAGAGTGGCAACT	0.473000													8	63					0	0	0.000422831	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671500	39671500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:39671500C>T	ENST00000398930.1	+	4	671	c.317C>T	c.(316-318)cCc>cTc	p.P106L	KCNJ15_ENST00000398932.1_Missense_Mutation_p.P106L|KCNJ15_ENST00000328656.3_Missense_Mutation_p.P106L|KCNJ15_ENST00000398934.1_Missense_Mutation_p.P106L|KCNJ15_ENST00000398938.2_Missense_Mutation_p.P106L			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	106					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						AATCATACCCCCTGCATCATG	0.478000													23	54					0	0	0.00047179	0	0
MYO5B	4645	broad.mit.edu	37	18	47479700	47479700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:47479700G>A	ENST00000285039.7	-	14	1981	c.1682C>T	c.(1681-1683)tCt>tTt	p.S561F		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	561	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AAAACCATCAGAGAGGTACTC	0.488000													30	12					0	0	0.00058488	0	0
SLC6A2	6530	broad.mit.edu	37	16	55727956	55727956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:55727956C>T	ENST00000379906.2	+	6	1208	c.953C>T	c.(952-954)tCc>tTc	p.S318F	SLC6A2_ENST00000219833.8_Missense_Mutation_p.S318F|SLC6A2_ENST00000414754.3_Missense_Mutation_p.S318F|SLC6A2_ENST00000567238.1_Missense_Mutation_p.S213F|SLC6A2_ENST00000561820.1_Missense_Mutation_p.S318F|SLC6A2_ENST00000568943.1_Missense_Mutation_p.S318F|SLC6A2_ENST00000566163.1_Missense_Mutation_p.S273F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	318					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	p.S318fs*19(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ATATTTTTTTCCTTGGGGGCT	0.438000													20	52					0	0	0.00047179	0	0
RUVBL2	10856	broad.mit.edu	37	19	49510599	49510599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:49510599C>T	ENST00000413176.2	+	6	1449	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	RUVBL2_ENST00000595090.1_Nonsense_Mutation_p.Q146*|RUVBL2_ENST00000601968.1_Nonsense_Mutation_p.Q101*			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	146					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GGTGGAGATCCAGATTGATCG	0.577000													31	23					0	0	0.000953801	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063443	76063443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:76063443G>A	ENST00000260045.3	-	5	856	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	251					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						ACTTCCCTGAGAGTTTCTTCT	0.448000													25	22					0	0	0.000339439	0	0
NEK9	91754	broad.mit.edu	37	14	75574130	75574130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:75574130G>A	ENST00000238616.5	-	11	1401	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	415					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TTTGGCTGTCGATAGGAGGCT	0.443000													20	11					0	0	0.00121646	0	0
PLCB1	23236	broad.mit.edu	37	20	8782784	8782784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:8782784C>T	ENST00000378641.3	+	32	3980	c.3505C>T	c.(3505-3507)Caa>Taa	p.Q1169*	PLCB1_ENST00000378637.2_Nonsense_Mutation_p.Q1169*|PLCB1_ENST00000338037.6_Intron	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	0					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCCCAACCCTCAAGCTCTCAA	0.547000													29	10					0	0	0.000692331	0	0
DCC	1630	broad.mit.edu	37	18	50918177	50918177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:50918177C>T	ENST00000442544.2	+	17	3224	c.2608C>T	c.(2608-2610)Cct>Tct	p.P870S	DCC_ENST00000581580.1_Missense_Mutation_p.P505S|DCC_ENST00000412726.1_Missense_Mutation_p.P698S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	870	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAACTCTGTCCCTAAGAACCA	0.522000													36	16					0	0	0.000692331	0	0
ZNF808	388558	broad.mit.edu	37	19	53058076	53058076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:53058076C>T	ENST00000359798.4	+	5	2087	c.1907C>T	c.(1906-1908)tCa>tTa	p.S636L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACGTGGAATTCACAGCTGGCA	0.408000													16	64					0	0	0.000308642	0	0
NPAP1	23742	broad.mit.edu	37	15	24921404	24921404	+	Silent	SNP	A	A	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr15:24921404A>C	ENST00000329468.2	+	1	864	c.390A>C	c.(388-390)ccA>ccC	p.P130P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGCCTTCACCACGTGAGCCGG	0.632000													34	16					0	0	0.00128727	0	0
RAD9A	5883	broad.mit.edu	37	11	67163819	67163819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:67163819G>A	ENST00000307980.2	+	9	913	c.820G>A	c.(820-822)Gac>Aac	p.D274N	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	274	Sufficient for interaction with ABL1.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCACTCCCAGGACCTGGGCTC	0.637000								Other conserved DNA damage response genes					62	64					0	0	0.000781405	0	0
OR2B2	81697	broad.mit.edu	37	6	27879876	27879876	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:27879876G>A	ENST00000303324.2	-	1	298	c.222C>T	c.(220-222)acC>acT	p.T74T		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CTGTACTTGTGGTATAGCAAA	0.428000													18	46					0	0	0.00121646	0	0
EPHB3	2049	broad.mit.edu	37	3	184295460	184295460	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:184295460C>T	ENST00000330394.2	+	7	1946	c.1494C>T	c.(1492-1494)gcC>gcT	p.A498A	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	498	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGGGCATCGCCTCCACAGTGA	0.657000													21	50					0	0	0.000295444	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140869034	140869034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:140869034C>T	ENST00000252087.1	+	1	227	c.227C>T	c.(226-228)tCc>tTc	p.S76F	PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		76	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTATTTTTCCCTGAGCTTG	0.552000													45	46					0	0	0.000781405	0	0
OR8D4	338662	broad.mit.edu	37	11	123777295	123777295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:123777295C>T	ENST00000321355.2	+	1	187	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TAGGCTGAATCGTCAACTTCA	0.408000													9	28					0	0	0.000274275	0	0
BRWD3	254065	broad.mit.edu	37	X	79960305	79960305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:79960305C>T	ENST00000373275.4	-	23	2809	c.2593G>A	c.(2593-2595)Gga>Aga	p.G865R	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	865										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AAATTTATTCCAGCATCTGCT	0.348000													30	37					0	0	0.000339439	0	0
TRPV6	55503	broad.mit.edu	37	7	142569731	142569731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:142569731C>T	ENST00000359396.3	-	15	2152	c.1907G>A	c.(1906-1908)aGg>aAg	p.R636K		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	636					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAGATCTTGCCTGTCTTCCAC	0.547000													92	40					0	0	0.000781405	0	0
SPINT2	10653	broad.mit.edu	37	19	38779819	38779819	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:38779819T>C	ENST00000301244.7	+	4	814	c.379T>C	c.(379-381)Ttc>Ctc	p.F127L	SPINT2_ENST00000587090.1_Missense_Mutation_p.F77L|SPINT2_ENST00000454580.3_Missense_Mutation_p.F70L|CTB-102L5.4_ENST00000591889.1_Silent_p.C4C	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	127					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGCGATATGTTCAACTATGA	0.557000													26	64					0	0	0.00106085	0	0
AMER3	205147	broad.mit.edu	37	2	131519662	131519662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:131519662G>A	ENST00000423981.1	+	2	127	c.17G>A	c.(16-18)gGa>gAa	p.G6E	AMER3_ENST00000321420.4_Missense_Mutation_p.G6E	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CTGAAGAGAGGAAAGACCTTC	0.622000													12	1					0	0	0.000219431	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255646	140255646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:140255646C>T	ENST00000398631.2	+	1	589	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTAGTTCTTCGGAAGTTATT	0.348000													33	76					0	0	0.000339439	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718335	142718335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:142718335C>T	ENST00000381779.4	-	2	815	c.590G>A	c.(589-591)gGg>gAg	p.G197E	SLITRK4_ENST00000338017.4_Missense_Mutation_p.G197E|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G197E	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	197						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAACCCCGATATAAGG	0.438000													51	68					0	0	0.000781405	0	0
OR52M1	119772	broad.mit.edu	37	11	4566960	4566960	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:4566960C>T	ENST00000360213.1	+	1	540	c.540C>T	c.(538-540)tcC>tcT	p.S180S		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTCCCACTCCTACTGTGAGC	0.527000													37	29					0	0	0.00128727	0	0
ALS2CL	259173	broad.mit.edu	37	3	46718410	46718410	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:46718410C>T	ENST00000318962.4	-	17	1943	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E	ALS2CL_ENST00000383742.3_5'UTR|ALS2CL_ENST00000415953.1_Silent_p.E620E	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	620					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCAGCAGGGCCTCCTGCAGGT	0.657000													40	41					0	0	0.00148497	0	0
PLS3	5358	broad.mit.edu	37	X	114880811	114880811	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:114880811G>A	ENST00000420625.2	+	13	1601	c.1467G>A	c.(1465-1467)ggG>ggA	p.G489G	PLS3_ENST00000289290.3_Silent_p.G453G|PLS3_ENST00000355899.3_Silent_p.G489G|PLS3_ENST00000537301.1_Silent_p.G476G|PLS3_ENST00000539310.1_Silent_p.G444G|PLS3_ENST00000543070.1_Silent_p.G83G	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	489	Actin-binding 2.|CH 3.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TGAATGATGGGAACCAAACCC	0.423000													39	56					0	0	0.00148497	0	0
LRP12	29967	broad.mit.edu	37	8	105503038	105503038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:105503038G>A	ENST00000276654.5	-	7	2551	c.2443C>T	c.(2443-2445)Cct>Tct	p.P815S	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.P796S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	815					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTACTCCAGGATTTGTTGCA	0.458000													7	37					0	0	0.000157383	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754675	94754675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:94754675C>T	ENST00000554723.1	-	3	1478	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	SERPINA10_ENST00000393096.1_Missense_Mutation_p.D314N|SERPINA10_ENST00000554173.1_Missense_Mutation_p.D314N|SERPINA10_ENST00000261994.4_Missense_Mutation_p.D314N			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	314					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GTCAGGTAGTCTTCAAGGGCG	0.488000													33	11					0	0	0.000814825	0	0
NEK4	6787	broad.mit.edu	37	3	52802597	52802597	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:52802597G>A	ENST00000233027.5	-	2	319	c.117C>T	c.(115-117)ctC>ctT	p.L39L	NEK4_ENST00000535191.1_Intron|NEK4_ENST00000383721.4_Silent_p.L39L	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	39	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AGGCATTTCGGAGGTTCAGTT	0.448000													71	71					0	0	0.000781405	0	0
GORAB	92344	broad.mit.edu	37	1	170508353	170508353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:170508353C>T	ENST00000367763.3	+	2	159	c.139C>T	c.(139-141)Cca>Tca	p.P47S	GORAB_ENST00000465717.1_3'UTR|GORAB_ENST00000367762.1_Missense_Mutation_p.P47S	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	47						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TTACATAGATCCATTTGAACC	0.363000													29	7					0	0	0.001512	0	0
PARP3	10039	broad.mit.edu	37	3	51980193	51980193	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:51980193C>T	ENST00000417220.2	+	10	1598	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	PARP3_ENST00000398755.3_Silent_p.F377F|PARP3_ENST00000431474.1_Silent_p.F370F			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	370	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGACAGATTCCAGGCCCACT	0.592000													31	77					0	0	0.000491102	0	0
ABCC10	89845	broad.mit.edu	37	6	43399895	43399895	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:43399895C>T	ENST00000244533.3	+	1	407	c.48C>T	c.(46-48)atC>atT	p.I16I	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Silent_p.I59I	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	59						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGATTACATCCTACCCTGCA	0.567000													25	48					0	0	0.000720815	0	0
LDOC1	23641	broad.mit.edu	37	X	140270841	140270841	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:140270841G>A	ENST00000370526.2	-	1	469	c.366C>T	c.(364-366)ctC>ctT	p.L122L	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	122					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					TCATCTCATCGAGGAAGGCCC	0.582000													33	51					0	0	0.000409698	0	0
RNF24	11237	broad.mit.edu	37	20	3944649	3944649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:3944649G>A	ENST00000336095.5	-	2	267	c.16C>T	c.(16-18)Cca>Tca	p.P6S	RNF24_ENST00000545616.1_Missense_Mutation_p.P27S|RNF24_ENST00000358395.6_Missense_Mutation_p.P6S|RNF24_ENST00000432261.2_Missense_Mutation_p.P27S	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	6						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						TTGTAATGTGGGAAATCCGAG	0.378000													13	31					0	0	0.00185496	0	0
SLC32A1	140679	broad.mit.edu	37	20	37353665	37353665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:37353665G>A	ENST00000217420.1	+	1	561	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	100					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGGCTCCAAGGACCAGGTGGG	0.672000													17	50					0	0	0.00121646	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188326	72188326	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:72188326C>T	ENST00000537465.1	-	4	356	c.198G>A	c.(196-198)gaG>gaA	p.E66E	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Silent_p.E66E|PMFBP1_ENST00000543746.1_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	66										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCTCTGACTCCTCGAATGCTA	0.423000													18	29					0	0	0.00074312	0	0
CSMD2	114784	broad.mit.edu	37	1	34204909	34204909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:34204909G>A	ENST00000373381.4	-	15	2376	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	694	Sushi 4.					integral to membrane|plasma membrane	protein binding	p.P694A(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAACGCCAGGATCCGGGCAC	0.522000													57	17					0	0	0.000781405	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960324	33960324	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:33960324T>A	ENST00000361328.3	+	8	2533	c.2380T>A	c.(2380-2382)Tat>Aat	p.Y794N		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	794					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGAAAAGCCCTATAAATGTGG	0.448000													72	21					0	0	0.000781405	0	0
KCNK9	51305	broad.mit.edu	37	8	140631332	140631332	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:140631332G>C	ENST00000520439.1	-	2	357	c.294C>G	c.(292-294)caC>caG	p.H98Q	KCNK9_ENST00000303015.1_Missense_Mutation_p.H98Q			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	98						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.H98H(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CAGGTGCAGCGTGCCCATAAC	0.612000													6	25					0	0	8.12818e-05	0	0
DNAH9	1770	broad.mit.edu	37	17	11872750	11872750	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:11872750G>C	ENST00000262442.3	+	69	13435	c.13367G>C	c.(13366-13368)cGg>cCg	p.R4456P	DNAH9_ENST00000396001.2_Missense_Mutation_p.R768P|DNAH9_ENST00000454412.2_Missense_Mutation_p.R4380P|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4456					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACTAGTCAGCGGGGACCCACC	0.517000													12	12					0	0	0.00136819	0	0
TRIM31	11074	broad.mit.edu	37	6	30079500	30079500	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:30079500G>A	ENST00000376734.3	-	3	563	c.438C>T	c.(436-438)atC>atT	p.I146I	TRIM31_ENST00000540829.1_Silent_p.I146I|TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	146						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GCAAGACTTGGATCTGCTCTT	0.512000													172	72					0	0	0.000781405	0	0
OR6T1	219874	broad.mit.edu	37	11	123813896	123813896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:123813896G>A	ENST00000321252.2	-	1	684	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S217Y(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCAGGCATAGGAAACTGAGGT	0.542000													16	9					0	0	0.000422831	0	0
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	7904917	7904917	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:7904917G>A	ENST00000539054.1	-	2	86	c.87C>T	c.(85-87)gaC>gaT	p.D29D	BLOC1S5-TXNDC5_ENST00000604490.1_5'UTR|TXNDC5_ENST00000379757.4_Silent_p.D101D|TXNDC5_ENST00000473453.1_5'UTR																							TGTCTCCCAGGTCATTCCAAG	0.572000													16	67					0	0	0.000566183	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766044	27766044	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:27766044C>T	ENST00000451261.2	+	5	1431	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CTGTTGTCTTCACCATTGACC	0.483000													22	30					0	0	0.000878237	0	0
MUC16	94025	broad.mit.edu	37	19	9014552	9014552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:9014552C>T	ENST00000397910.4	-	31	38626	c.38423G>A	c.(38422-38424)aGa>aAa	p.R12808K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12810	SEA 5.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGACTGTTTCTGTCCAGGGT	0.552000													55	63					0	0	0.000781405	0	0
LDHC	3948	broad.mit.edu	37	11	18472604	18472604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:18472604C>T	ENST00000541669.1	+	8	1040	c.929C>T	c.(928-930)tCt>tTt	p.S310F	LDHC_ENST00000280704.4_Missense_Mutation_p.S310F|LDHC_ENST00000535809.1_3'UTR|LDHC_ENST00000536880.1_Missense_Mutation_p.S296F|LDHC_ENST00000544105.1_3'UTR|LDHC_ENST00000546146.1_3'UTR|LDHC_ENST00000537486.1_3'UTR			P07864	LDHC_HUMAN	lactate dehydrogenase C	310					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	AACTTGAATTCTGAGGAGGAG	0.368000													36	101					0	0	0.00195071	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128990052	128990052	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:128990052C>T	ENST00000274487.4	+	14	2357	c.2212C>T	c.(2212-2214)Cta>Tta	p.L738L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	738	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCCTATTCTTCTATCAGAAAA	0.368000													23	14					0	0	0.000878237	0	0
SCN5A	6331	broad.mit.edu	37	3	38591868	38591868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:38591868C>T	ENST00000413689.1	-	28	6188	c.5995G>A	c.(5995-5997)Gaa>Aaa	p.E1999K	SCN5A_ENST00000425664.1_Missense_Mutation_p.E1981K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1981K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1966K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E1945K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1999K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E1998K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1998K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1945K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1945K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1999					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCGAGATCTTCACTGTGGCTG	0.592000													33	74					0	0	0.00128727	0	0
ZP4	57829	broad.mit.edu	37	1	238051726	238051726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:238051726C>T	ENST00000366570.4	-	4	643	c.485G>A	c.(484-486)gGa>gAa	p.G162E	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	162	P-type.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTCACAGTCTCCTCGAGAGAT	0.507000													53	12					0	0	0.000781405	0	0
CYP2C8	1558	broad.mit.edu	37	10	96796988	96796988	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:96796988T>A	ENST00000371270.3	-	9	1464	c.1370A>T	c.(1369-1371)aAc>aTc	p.N457I	CYP2C8_ENST00000535898.1_Missense_Mutation_p.N355I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	457					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AGATTTCAGGTTAAAGTTCTG	0.393000													14	5					0	0	0.00185496	0	0
GRIA2	2891	broad.mit.edu	37	4	158284155	158284155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:158284155G>A	ENST00000296526.7	+	15	2936	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	GRIA2_ENST00000507898.1_Missense_Mutation_p.E824K|GRIA2_ENST00000449365.1_Missense_Mutation_p.E824K|GRIA2_ENST00000264426.9_Missense_Mutation_p.E871K|GRIA2_ENST00000393815.2_Missense_Mutation_p.E824K	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	871					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AACTTATAAGGAAGGTTACAA	0.413000													17	10					0	0	0.00121646	0	0
ZNF208	7757	broad.mit.edu	37	19	22155678	22155678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:22155678G>A	ENST00000397126.4	-	4	2306	c.2158C>T	c.(2158-2160)Ccc>Tcc	p.P720S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATTTGTAGGGTTTCTCTCCA	0.378000													9	6					0	0	0.000673444	0	0
NLRP12	91662	broad.mit.edu	37	19	54314011	54314011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:54314011G>A	ENST00000324134.6	-	3	1070	c.902C>T	c.(901-903)cCt>cTt	p.P301L	NLRP12_ENST00000354278.3_Missense_Mutation_p.P301L|NLRP12_ENST00000351894.4_Missense_Mutation_p.P301L|NLRP12_ENST00000391773.1_Missense_Mutation_p.P301L|NLRP12_ENST00000345770.5_Missense_Mutation_p.P301L|NLRP12_ENST00000535162.1_Missense_Mutation_p.P301L|NLRP12_ENST00000391772.1_Missense_Mutation_p.P301L|NLRP12_ENST00000391775.3_Missense_Mutation_p.P301L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	301	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTGGAAAGAAGGCTTGAGCTC	0.587000													22	24					0	0	0.00047179	0	0
LINC00886	730091	broad.mit.edu	37	3	156527915	156527915	+	RNA	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:156527915G>A	ENST00000472943.1	-	0	148					NR_038387.1																						GTGGGATTCTGGATAATGGTT	0.443000													16	48					0	0	0.000958276	0	0
PTCRA	171558	broad.mit.edu	37	6	42890785	42890785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:42890785C>T	ENST00000304672.1	+	2	160	c.79C>T	c.(79-81)Cct>Tct	p.P27S	PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	27						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CACACCCTTTCCTTCTCTGGC	0.587000													34	72					0	0	0.000692331	0	0
SCN10A	6336	broad.mit.edu	37	3	38793763	38793763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:38793763C>T	ENST00000449082.2	-	11	1701	c.1702G>A	c.(1702-1704)Gaa>Aaa	p.E568K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	568					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGTTGGTGTTCATCTTCTCCA	0.607000													21	33					0	0	0.000375601	0	0
TFE3	7030	broad.mit.edu	37	X	48896774	48896774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:48896774C>T	ENST00000315869.7	-	3	651	c.392G>A	c.(391-393)cGt>cAt	p.R131H	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	131					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CCGACGCTCACGCCTCTCCTG	0.667000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								6	8					0	0	8.12818e-05	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185417	127185417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:127185417G>A	ENST00000371124.3	-	1	965	c.769C>T	c.(769-771)Caa>Taa	p.Q257*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	257						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCGGGCACTTGGTACAGCTCA	0.542000													28	33					0	0	0.00127121	0	0
TENM4	26011	broad.mit.edu	37	11	78412905	78412905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:78412905C>T	ENST00000278550.7	-	28	5215	c.4753G>A	c.(4753-4755)Gag>Aag	p.E1585K		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AGATAGAGCTCCTGGTCAATT	0.522000													60	57					0	0	0.000781405	0	0
GEMIN5	25929	broad.mit.edu	37	5	154291305	154291305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:154291305G>A	ENST00000285873.7	-	15	2224	c.2149C>T	c.(2149-2151)Cat>Tat	p.H717Y		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	717					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCCGGGAATGATCTTGCATG	0.453000													24	61					0	0	0.00127121	0	0
RASSF6	166824	broad.mit.edu	37	4	74447996	74447996	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:74447996G>A	ENST00000307439.5	-	7	873	c.579C>T	c.(577-579)ttC>ttT	p.F193F	RASSF6_ENST00000342081.3_Silent_p.F225F|RASSF6_ENST00000395777.2_Intron|RASSF6_ENST00000335049.5_Silent_p.F181F	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	225					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AGGCTGGAATGAAAATTGATG	0.284000													4	12					0	0	0.000602214	0	0
NOS1	4842	broad.mit.edu	37	12	117715816	117715816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:117715816G>A	ENST00000317775.6	-	9	2297	c.1612C>T	c.(1612-1614)Ctc>Ttc	p.L538F	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.L538F	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	538					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATCTGGAAGAGCTCAGGGTCA	0.592000													37	17					0	0	0.00170553	0	0
FGD2	221472	broad.mit.edu	37	6	36982814	36982814	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:36982814G>A	ENST00000274963.8	+	8	1200	c.1029_splice	c.e8+1	p.L343_splice		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	343	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACCTTTTCTTGGTAAGAGGGT	0.617000													21	29					0	0	0.00047179	0	0
GAD1	2571	broad.mit.edu	37	2	171705804	171705804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:171705804G>A	ENST00000358196.3	+	12	1678	c.1128G>A	c.(1126-1128)tgG>tgA	p.W376*		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	376					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGGCTGCCTGGGGAGGTGGGC	0.522000													19	5					0	0	0.00188189	0	0
CPA6	57094	broad.mit.edu	37	8	68536417	68536417	+	Silent	SNP	T	T	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:68536417T>C	ENST00000297770.4	-	2	401	c.186A>G	c.(184-186)caA>caG	p.Q62Q	CPA6_ENST00000518549.1_Silent_p.Q62Q|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	62					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTACCTTAAGTTGATAGGATA	0.323000													13	31					0	0	0.000308642	0	0
BSN	8927	broad.mit.edu	37	3	49689898	49689898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:49689898C>T	ENST00000296452.4	+	5	3023	c.2909C>T	c.(2908-2910)tCc>tTc	p.S970F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	970					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTAACGGGCTCCCCTGAGGAC	0.627000													23	21					0	0	0.00188189	0	0
KDM5A	5927	broad.mit.edu	37	12	416948	416948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:416948G>A	ENST00000399788.2	-	23	3964	c.3602C>T	c.(3601-3603)tCc>tTc	p.S1201F	KDM5A_ENST00000382815.4_Missense_Mutation_p.S1201F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1201					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTGCCAGCTGGATCCTTTTTT	0.463000			T	NUP98	AML								21	12					0	0	0.000295444	0	0
TPM1	7168	broad.mit.edu	37	15	63353404	63353404	+	Nonsense_Mutation	SNP	C	C	T	rs1131001		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr15:63353404C>T	ENST00000358278.3	+	6	716	c.571C>T	c.(571-573)Cga>Tga	p.R191*	TPM1_ENST00000267996.7_Intron|TPM1_ENST00000560959.1_Nonsense_Mutation_p.R155*|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000317516.7_Nonsense_Mutation_p.R155*|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000404484.4_Nonsense_Mutation_p.R155*|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000559397.1_Nonsense_Mutation_p.R191*|TPM1_ENST00000403994.3_Intron|TPM1_ENST00000559281.1_Intron|TPM1_ENST00000288398.6_Nonsense_Mutation_p.R191*	NM_001018006.1	NP_001018006.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	191					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						CAGCCAAGTCCGACAGCTGGA	0.433000													44	7					0	0	0.000781405	0	0
ZNF527	84503	broad.mit.edu	37	19	37879696	37879696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:37879696C>T	ENST00000436120.2	+	5	852	c.745C>T	c.(745-747)Cat>Tat	p.H249Y	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATGAAAGTCATGATTTTTC	0.368000													20	54					0	0	0.000295444	0	0
CCNE2	9134	broad.mit.edu	37	8	95900157	95900157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:95900157C>T	ENST00000520509.1	-	7	850	c.598G>A	c.(598-600)Gag>Aag	p.E200K	CCNE2_ENST00000308108.4_Missense_Mutation_p.E200K|CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Missense_Mutation_p.E200K			O96020	CCNE2_HUMAN	cyclin E2	200					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GAACTTACCTCAAGTTTGGAA	0.254000													238	216					0	0	0.000781405	0	0
ASB15	142685	broad.mit.edu	37	7	123256545	123256545	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:123256545G>A	ENST00000451558.1	+	8	809	c.288G>A	c.(286-288)ctG>ctA	p.L96L	ASB15_ENST00000275699.3_Silent_p.L96L|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000540573.1_Silent_p.L96L|ASB15_ENST00000451215.1_Silent_p.L96L|ASB15_ENST00000434204.1_Silent_p.L96L|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	96					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGATTGTTCTGGATGGTAAGA	0.338000													9	44					0	0	0.000442599	0	0
LILRB5	10990	broad.mit.edu	37	19	54759385	54759385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:54759385C>T	ENST00000450632.1	-	5	766	c.689G>A	c.(688-690)aGc>aAc	p.S230N	LILRB5_ENST00000345866.6_Missense_Mutation_p.S139N|LILRB5_ENST00000316219.5_Missense_Mutation_p.S239N|LILRB5_ENST00000449561.2_Missense_Mutation_p.S239N			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	239	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGGTCAGGCTGCCTCCGCG	0.617000													13	34					0	0	0.000308642	0	0
GRID2	2895	broad.mit.edu	37	4	94316791	94316791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:94316791G>A	ENST00000282020.4	+	9	1537	c.1279G>A	c.(1279-1281)Ggg>Agg	p.G427R	GRID2_ENST00000510992.1_Missense_Mutation_p.G332R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	427					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGGTCTGAATGGGTCACTGAC	0.433000													6	7					0	0	0.000157383	0	0
OR4A5	81318	broad.mit.edu	37	11	51412063	51412063	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:51412063G>A	ENST00000319760.6	-	1	385	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F111L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCACCAGAAGGAAGACCTCAG	0.453000													4	5					0	0	0.00024832	0	0
CCNA1	8900	broad.mit.edu	37	13	37014171	37014171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr13:37014171G>A	ENST00000418263.1	+	6	1296	c.946G>A	c.(946-948)Gat>Aat	p.D316N	CCNA1_ENST00000449823.1_Missense_Mutation_p.D273N|CCNA1_ENST00000255465.4_Missense_Mutation_p.D317N|CCNA1_ENST00000440264.1_Missense_Mutation_p.D273N	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	317					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TATCACCGATGATACATACAC	0.383000													25	45					0	0	0.000720815	0	0
OR13F1	138805	broad.mit.edu	37	9	107266729	107266729	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:107266729C>T	ENST00000334726.2	+	1	275	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTACCTCTTCCTCAGCAATC	0.478000													40	26					0	0	0.00195071	0	0
SYTL5	94122	broad.mit.edu	37	X	37979616	37979616	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:37979616G>A	ENST00000357972.5	+	14	2148	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	SYTL5_ENST00000456733.2_Silent_p.E556E|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Silent_p.E534E			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	534					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GCCAGGTGGAGTTTGCTCCTG	0.418000													45	48					0	0	0.000781405	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	49					0	0	8.12818e-05	0	0
SLC4A8	9498	broad.mit.edu	37	12	51888839	51888839	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:51888839G>A	ENST00000453097.2	+	21	3097	c.2880G>A	c.(2878-2880)ttG>ttA	p.L960L	SLC4A8_ENST00000358657.3_Silent_p.L987L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	960					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCATCCAGTTGACCTGTCTCG	0.483000													32	16					0	0	0.000692331	0	0
OR2A5	393046	broad.mit.edu	37	7	143747860	143747860	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:143747860G>A	ENST00000408906.2	+	1	400	c.366G>A	c.(364-366)cgG>cgA	p.R122R		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CCTACGATCGGTACATGGCTA	0.473000													184	92					0	0	0.000781405	0	0
SCUBE3	222663	broad.mit.edu	37	6	35212587	35212587	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:35212587G>A	ENST00000274938.7	+	18	2400	c.2401_splice	c.e18+1	p.K800_splice	SCUBE3_ENST00000394681.1_Splice_Site_p.K816_splice	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	800					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCCAATGCAAGAGTACGTGGC	0.577000													24	144					0	0	0.000375601	0	0
TACC2	10579	broad.mit.edu	37	10	123843518	123843518	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:123843518G>A	ENST00000369005.1	+	4	1843	c.1503G>A	c.(1501-1503)ttG>ttA	p.L501L	TACC2_ENST00000453444.2_Silent_p.L501L|TACC2_ENST00000515273.1_Silent_p.L501L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.L501L|TACC2_ENST00000334433.3_Silent_p.L501L|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	501	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAGAGCACTTGAACACGGAGC	0.602000													65	20					0	0	0.000781405	0	0
DNAH9	1770	broad.mit.edu	37	17	11837243	11837243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:11837243G>A	ENST00000262442.3	+	65	12412	c.12344G>A	c.(12343-12345)gGa>gAa	p.G4115E	DNAH9_ENST00000396001.2_Missense_Mutation_p.G427E|DNAH9_ENST00000454412.2_Missense_Mutation_p.G4039E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4115					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCATGTATGGAGGCCATATC	0.493000													25	40					0	0	0.00106085	0	0
TDRD1	56165	broad.mit.edu	37	10	115971703	115971703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:115971703G>A	ENST00000251864.2	+	14	1892	c.1739G>A	c.(1738-1740)gGa>gAa	p.G580E	TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369280.1_Missense_Mutation_p.G580E|TDRD1_ENST00000369282.1_Missense_Mutation_p.G580E	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	580	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GTAGATTATGGAAACTTTGAA	0.403000													15	5					0	0	0.000219431	0	0
OR6K3	391114	broad.mit.edu	37	1	158687162	158687162	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:158687162C>T	ENST00000368146.1	-	1	791	c.792G>A	c.(790-792)ccG>ccA	p.P264P	OR6K3_ENST00000368145.1_Silent_p.P248P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	264			P -> L (in dbSNP:rs28568406).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CAAAGAATATCGGGAAGACCA	0.453000													3	1					0	0	6.4e-05	0	0
SIAH3	283514	broad.mit.edu	37	13	46358066	46358066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr13:46358066G>A	ENST00000400405.2	-	2	368	c.262C>T	c.(262-264)Cac>Tac	p.H88Y		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	88	His-rich.				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						tgaaggtggtgggggtgggcg	0.677000													6	23					0	0	0.00116845	0	0
NPY4R	5540	broad.mit.edu	37	10	47086993	47086993	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:47086993G>A	ENST00000374312.1	+	3	629	c.210G>A	c.(208-210)aaG>aaA	p.K70K	NPY4R_ENST00000395716.1_Silent_p.K70K	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		TGAGGCAGAAGGAGAAAGCCA	0.567000													34	67					0	0	0.000953801	0	0
CPS1	1373	broad.mit.edu	37	2	211542674	211542674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:211542674C>T	ENST00000233072.5	+	38	4664	c.4468C>T	c.(4468-4470)Cac>Tac	p.H1490Y	CPS1_ENST00000451903.2_Missense_Mutation_p.H1039Y|CPS1_ENST00000430249.2_Missense_Mutation_p.H1496Y	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1490					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GAGTCTTTTCCACTACAGGCA	0.448000													60	20					0	0	0.000781405	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347901	38347901	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:38347901C>T	ENST00000273173.4	+	1	475	c.384C>T	c.(382-384)ttC>ttT	p.F128F	SLC22A14_ENST00000448498.1_Silent_p.F128F	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	128						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		ATGGCAGTTTCCTGACATGCT	0.517000													74	74					0	0	0.000781405	0	0
PPIE	10450	broad.mit.edu	37	1	40205917	40205917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:40205917C>T	ENST00000324379.5	+	2	131	c.112C>T	c.(112-114)Cct>Tct	p.P38S	PPIE_ENST00000470213.1_Missense_Mutation_p.P38S|PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000372830.1_Missense_Mutation_p.P38S|PPIE_ENST00000356511.2_Missense_Mutation_p.P38S	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	38	RRM.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TATTCAGATTCCTCTGGATTA	0.403000													16	10					0	0	0.000566183	0	0
ZNF534	147658	broad.mit.edu	37	19	52941172	52941172	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:52941172C>T	ENST00000332323.6	+	4	559	c.498C>T	c.(496-498)ttC>ttT	p.F166F	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Silent_p.F153F	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TAAGTTTTTTCAGTGTCAAAA	0.328000													28	23					0	0	0.00106085	0	0
NID1	4811	broad.mit.edu	37	1	236187465	236187465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:236187465C>T	ENST00000264187.6	-	9	2115	c.2033G>A	c.(2032-2034)gGg>gAg	p.G678E	NID1_ENST00000366595.3_Missense_Mutation_p.G678E	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	678	EGF-like 2.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGTGTCACACCCATGAGTGCC	0.577000													23	23					0	0	0.000375601	0	0
BRWD3	254065	broad.mit.edu	37	X	79932655	79932655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:79932655G>A	ENST00000373275.4	-	41	5078	c.4862C>T	c.(4861-4863)tCt>tTt	p.S1621F		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1621										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTCAGAGTCAGAACCACAGGT	0.368000													11	14					0	0	0.00185496	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709694	128709694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:128709694C>T	ENST00000392665.2	-	2	589	c.445G>A	c.(445-447)Gtt>Att	p.V149I	KCNJ1_ENST00000440599.2_Missense_Mutation_p.V149I|KCNJ1_ENST00000324036.3_Missense_Mutation_p.V149I|KCNJ1_ENST00000392664.2_Missense_Mutation_p.V168I|KCNJ1_ENST00000392666.1_Missense_Mutation_p.V149I	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	168					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TTGATTATAACTCCAAGTATA	0.443000													27	25					0	0	0.000720815	0	0
C16orf78	123970	broad.mit.edu	37	16	49407878	49407878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:49407878G>A	ENST00000299191.3	+	1	145	c.28G>A	c.(28-30)Gat>Aat	p.D10N		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	10										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGACCTGAAGGATTTAATGCC	0.532000													25	24					0	0	0.000720815	0	0
DRP2	1821	broad.mit.edu	37	X	100496794	100496794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:100496794C>T	ENST00000395209.3	+	7	1224	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F	DRP2_ENST00000541709.1_Missense_Mutation_p.L155F|DRP2_ENST00000402866.1_Missense_Mutation_p.L233F|DRP2_ENST00000538510.1_Missense_Mutation_p.L233F	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	233					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TCTGGAGCAGCTCTTGGAGAT	0.562000													10	19					0	0	0.000673444	0	0
ERBB4	2066	broad.mit.edu	37	2	212248745	212248745	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:212248745C>T	ENST00000342788.4	-	28	3832	c.3522G>A	c.(3520-3522)cgG>cgA	p.R1174R	ERBB4_ENST00000436443.1_Silent_p.R1158R|ERBB4_ENST00000402597.1_Silent_p.R1164R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1174					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CATTTTTTCTCCGAGAAACAA	0.403000										TSP Lung(8;0.080)			20	4					0	0	0.000375601	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531956	140531956	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:140531956C>T	ENST00000231136.1	+	1	2118	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F	PCDHB6_ENST00000543635.1_Silent_p.F570F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		706					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.682000													98	88					0	0	0.000781405	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377343	55377343	+	Missense_Mutation	SNP	C	C	T	rs138402445		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:55377343C>T	ENST00000326321.3	+	7	1117	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R362C|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R345C	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	362					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		tctcctTTATCGCTGGTGCTC	0.532000													16	24					0	0	0.00074312	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955651	18955651	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:18955651G>A	ENST00000302797.3	-	1	905	c.681C>T	c.(679-681)ctC>ctT	p.L227L		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	227					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCAGGCCACAGAGGAGGAAGA	0.488000													10	24					0	0	0.000442599	0	0
EPHA2	1969	broad.mit.edu	37	1	16464804	16464804	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:16464804C>T	ENST00000358432.5	-	4	1099	c.945G>A	c.(943-945)cgG>cgA	p.R315R		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	315	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CCTGAGGTGCCCGGAAGAAGC	0.637000													9	2					0	0	0.000442599	0	0
ADH1B	125	broad.mit.edu	37	4	100234992	100234992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:100234992G>A	ENST00000305046.8	-	6	881	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	ADH1B_ENST00000394887.3_Missense_Mutation_p.R232W			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	272					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTGTCAAGCCGACCGATGACT	0.423000													35	99					0	0	0.00195071	0	0
FAM81B	153643	broad.mit.edu	37	5	94727130	94727130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:94727130G>A	ENST00000283357.5	+	1	83	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	13										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GGCTTCCTCAGAAAAAAGAAA	0.373000													18	37					0	0	0.00074312	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126608	32126608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:32126608G>A	ENST00000265070.6	-	4	922	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	203					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TTGGTGAGGGGATGTGTTGTC	0.443000													17	52					0	0	0.00121646	0	0
PLCH1	23007	broad.mit.edu	37	3	155206578	155206578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:155206578C>T	ENST00000460012.1	-	20	2677	c.2320G>A	c.(2320-2322)Gaa>Aaa	p.E774K	PLCH1_ENST00000340059.7_Missense_Mutation_p.E792K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E774K|PLCH1_ENST00000414191.1_Missense_Mutation_p.E774K|PLCH1_ENST00000447496.2_Missense_Mutation_p.E792K|PLCH1_ENST00000494598.1_Missense_Mutation_p.E792K			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	792	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTGTTTCTTCCCACACAGGG	0.433000													19	24					0	0	0.00188189	0	0
GRIN2A	2903	broad.mit.edu	37	16	9928072	9928072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:9928072G>A	ENST00000396573.2	-	9	1976	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F	GRIN2A_ENST00000535259.1_Missense_Mutation_p.S399F|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S556F|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S556F|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S556F|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S556F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	556					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S556Y(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACCCAGACAGAGGCGCTGAA	0.438000													10	13					0	0	0.000442599	0	0
MXRA5	25878	broad.mit.edu	37	X	3238193	3238193	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:3238193T>C	ENST00000217939.6	-	5	5687	c.5533A>G	c.(5533-5535)Aaa>Gaa	p.K1845E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1845						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GACCAGAATTTGGATGCAGGA	0.517000													45	43					0	0	0.000781405	0	0
DMRT2	10655	broad.mit.edu	37	9	1056230	1056230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:1056230C>T	ENST00000382251.3	+	5	972	c.643C>T	c.(643-645)Cca>Tca	p.P215S	DMRT2_ENST00000358146.2_Missense_Mutation_p.P215S|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.P215S|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	215					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TCGCCCCATTCCAGCGGAGAC	0.448000													65	21					0	0	0.000781405	0	0
MEF2B	100271849	broad.mit.edu	37	19	19257566	19257566	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:19257566C>T	ENST00000602424.2	-	8	1386	c.660G>A	c.(658-660)ggG>ggA	p.G220G	MEF2B_ENST00000410050.1_Silent_p.G220G|MEF2B_ENST00000409447.2_Intron|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.G220G|MEF2B_ENST00000424583.2_Silent_p.G220G|MEF2B_ENST00000409224.1_Silent_p.G223G|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.G237G|MEF2B_ENST00000162023.5_Silent_p.G220G	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TGTTTAGTCCCCCTCGGGGCC	0.662000													19	19					0	0	0.00121646	0	0
FRYL	285527	broad.mit.edu	37	4	48525101	48525101	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:48525101G>A	ENST00000537810.1	-	54	7942	c.7338C>T	c.(7336-7338)ttC>ttT	p.F2446F	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.F2446F|FRYL_ENST00000358350.4_Silent_p.F2446F			O94915	FRYL_HUMAN	FRY-like	2446					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTCCCCAGTTGAAATTGTCCA	0.448000													13	9					0	0	0.000308642	0	0
GABRA3	2556	broad.mit.edu	37	X	151393274	151393274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:151393274G>A	ENST00000370314.4	-	6	833	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	GABRA3_ENST00000370311.1_Missense_Mutation_p.P199S|GABRA3_ENST00000535043.1_Missense_Mutation_p.P199S	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	199					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACATCCATGGGAAAATCTTCC	0.353000													66	32					0	0	0.000781405	0	0
NLRC3	197358	broad.mit.edu	37	16	3614281	3614281	+	RNA	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:3614281G>A	ENST00000301749.7	-	0	1062				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CATCCAAGCCGTCCAGGATCA	0.637000													5	10					0	0	0.000602214	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:9072091G>A	ENST00000397910.4	-	3	15558	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5121	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTATAGAAGGAAAAATTTCC	0.453000													14	35					0	0	0.00185496	0	0
MYH7B	57644	broad.mit.edu	37	20	33584489	33584489	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:33584489A>T	ENST00000262873.7	+	28	3412	c.3320A>T	c.(3319-3321)gAc>gTc	p.D1107V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1065						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGGAGGGTGACCTGAAGCTG	0.627000													7	26					0	0	0.000157383	0	0
GRIK2	2898	broad.mit.edu	37	6	102372574	102372574	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:102372574T>C	ENST00000369138.1	+	12	2337	c.1847T>C	c.(1846-1848)gTt>gCt	p.V616A	GRIK2_ENST00000413795.1_Missense_Mutation_p.V616A|GRIK2_ENST00000369134.4_Missense_Mutation_p.V567A|GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000421544.1_Missense_Mutation_p.V616A|GRIK2_ENST00000318991.6_Missense_Mutation_p.V616A	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	616					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGGTTTGGAGTTGGAGCTCTC	0.473000													6	4					0	0	8.12818e-05	0	0
OR6X1	390260	broad.mit.edu	37	11	123624487	123624487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:123624487G>A	ENST00000327930.2	-	1	766	c.740C>T	c.(739-741)tCc>tTc	p.S247F		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S247Y(1)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTAGAGCAGGGAGACAACTGT	0.468000													6	27					0	0	8.12818e-05	0	0
CXorf67	340602	broad.mit.edu	37	X	51150785	51150785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:51150785C>T	ENST00000342995.2	+	1	1019	c.917C>T	c.(916-918)tCt>tTt	p.S306F						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GGCCGCGATTCTGCGCCAGGC	0.731000													11	10					0	0	0.000978159	0	0
PAX6	5080	broad.mit.edu	37	11	31815095	31815095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:31815095G>A	ENST00000419022.1	-	12	1433	c.965C>T	c.(964-966)tCc>tTc	p.S322F	PAX6_ENST00000379132.3_Missense_Mutation_p.S308F|PAX6_ENST00000379107.2_Missense_Mutation_p.S322F|PAX6_ENST00000241001.8_Missense_Mutation_p.S308F|PAX6_ENST00000379115.4_Missense_Mutation_p.S322F|PAX6_ENST00000379111.2_Missense_Mutation_p.S308F|PAX6_ENST00000379123.5_Missense_Mutation_p.S308F|PAX6_ENST00000379129.2_Missense_Mutation_p.S322F	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	308	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					AGATGTGAAGGAGGAAACTGA	0.488000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				22	52					0	0	0.00152264	0	0
SYNE1	23345	broad.mit.edu	37	6	152826510	152826510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:152826510C>T	ENST00000367255.5	-	9	1205	c.604G>A	c.(604-606)Gat>Aat	p.D202N	SYNE1_ENST00000448038.1_Missense_Mutation_p.D209N|SYNE1_ENST00000413186.2_Missense_Mutation_p.D202N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D202N|SYNE1_ENST00000466159.2_Missense_Mutation_p.D202N|SYNE1_ENST00000367248.3_Missense_Mutation_p.D209N|SYNE1_ENST00000367253.4_Missense_Mutation_p.D202N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D202N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D209N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	202	Actin-binding.|CH 2.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCCAAAATCTTTTACTTCT	0.403000										HNSCC(10;0.0054)			7	9					0	0	8.12818e-05	0	0
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	7904916	7904916	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:7904916G>A	ENST00000539054.1	-	2	87	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	BLOC1S5-TXNDC5_ENST00000604490.1_5'UTR|TXNDC5_ENST00000379757.4_Silent_p.L102L|TXNDC5_ENST00000473453.1_5'UTR																							TTGTCTCCCAGGTCATTCCAA	0.577000													15	68					0	0	0.000422831	0	0
TNS3	64759	broad.mit.edu	37	7	47384617	47384617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:47384617G>A	ENST00000398879.1	-	19	2837	c.2471C>T	c.(2470-2472)cCc>cTc	p.P824L	TNS3_ENST00000355730.3_Missense_Mutation_p.P584L|TNS3_ENST00000311160.9_Missense_Mutation_p.P824L			Q68CZ2	TENS3_HUMAN	tensin 3	824						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GAGGTCCTGGGGATAGCCAGG	0.502000													18	87					0	0	0.00121646	0	0
ZNF90	7643	broad.mit.edu	37	19	20216075	20216075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:20216075G>A	ENST00000418063.2	+	3	288	c.176G>A	c.(175-177)gGa>gAa	p.G59E	ZNF90_ENST00000474284.1_3'UTR	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	59	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						CTGGAGCAAGGAAAAAAACCC	0.398000													25	68					0	0	0.000720815	0	0
KIAA0556	23247	broad.mit.edu	37	16	27692825	27692825	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:27692825T>C	ENST00000261588.4	+	8	933	c.914T>C	c.(913-915)tTc>tCc	p.F305S	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	305										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCTGCTGTATTCCCAGACCAG	0.567000													51	82					0	0	0.000781405	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901634	2901634	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:2901634G>A	ENST00000254695.8	+	14	1254	c.1164G>A	c.(1162-1164)caG>caA	p.Q388Q	RAP1GAP2_ENST00000540393.2_Silent_p.Q369Q|RAP1GAP2_ENST00000366401.4_Silent_p.Q373Q|RAP1GAP2_ENST00000542807.1_Silent_p.Q388Q	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	388	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TCGTCGTGCAGGTCGAGACCC	0.537000													48	49					0	0	0.000781405	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203664	140203664	+	Silent	SNP	C	C	T	rs149846106		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:140203664C>T	ENST00000529859.1	+	1	2304	c.2304C>T	c.(2302-2304)ctC>ctT	p.L768L	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.L768L|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.L768L|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACAGACCTCATGGCCTTCA	0.522000													14	40					0	0	0.000566183	0	0
SORBS1	10580	broad.mit.edu	37	10	97096854	97096854	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:97096854G>A	ENST00000371247.2	-	30	3252	c.3063C>T	c.(3061-3063)ctC>ctT	p.L1021L	SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371227.4_Silent_p.L975L|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000361941.3_Silent_p.L1021L			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1021					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GTGACAAGGCGAGGTGGTCAG	0.607000													21	10					0	0	0.00188189	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963906	73963906	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:73963906C>T	ENST00000373468.1	-	3	1137	c.486G>A	c.(484-486)ggG>ggA	p.G162G	KIAA2022_ENST00000055682.5_Silent_p.G162G			Q5QGS0	K2022_HUMAN	KIAA2022	162					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCAGACTGATCCCTGGCTCAG	0.448000													7	25					0	0	8.12818e-05	0	0
PATZ1	23598	broad.mit.edu	37	22	31740335	31740335	+	Silent	SNP	A	A	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr22:31740335A>G	ENST00000266269.5	-	1	1883	c.1254T>C	c.(1252-1254)tgT>tgC	p.C418C	PATZ1_ENST00000405309.3_Silent_p.C418C|PATZ1_ENST00000351933.4_Silent_p.C418C|PATZ1_ENST00000215919.3_Silent_p.C418C	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	418					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						AGCCTTTCCCACAGCTCTGGC	0.577000													12	44					0	0	0.000219431	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19511354	19511354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:19511354C>T	ENST00000538714.1	+	23	3011	c.3007C>T	c.(3007-3009)Cca>Tca	p.P1003S	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.P934S|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.P703S|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.P945S|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.P889S|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.P1003S|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.P927S|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.P1008S|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.P1111S	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	945							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGGGATAATCCATTTAGGAC	0.363000													24	8					0	0	0.00127121	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133963531	133963531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:133963531G>A	ENST00000298622.4	+	15	2131	c.1993G>A	c.(1993-1995)Gat>Aat	p.D665N	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CATCCTGGGCGATAACGCCGT	0.627000													5	7					0	0	8.12818e-05	0	0
KRT12	3859	broad.mit.edu	37	17	39023211	39023211	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:39023211G>A	ENST00000251643.4	-	1	251	c.228C>T	c.(226-228)tcC>tcT	p.S76S		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	76	Gly-rich.|Head.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CTCCTGCCATGGAACTTCCGG	0.612000													50	49					0	0	0.000781405	0	0
PCDH15	65217	broad.mit.edu	37	10	56077033	56077033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:56077033G>A	ENST00000373965.2	-	8	1268	c.874C>T	c.(874-876)Ccg>Tcg	p.P292S	PCDH15_ENST00000437009.1_Missense_Mutation_p.P292S|PCDH15_ENST00000373957.3_Missense_Mutation_p.P270S|PCDH15_ENST00000395430.1_Missense_Mutation_p.P292S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.P292S|PCDH15_ENST00000395432.2_Missense_Mutation_p.P255S|PCDH15_ENST00000395433.1_Missense_Mutation_p.P270S|PCDH15_ENST00000373955.1_Missense_Mutation_p.P292S|PCDH15_ENST00000414778.1_Missense_Mutation_p.P297S|PCDH15_ENST00000395445.1_Missense_Mutation_p.P292S|PCDH15_ENST00000395440.1_Missense_Mutation_p.P292S|PCDH15_ENST00000320301.6_Missense_Mutation_p.P292S|PCDH15_ENST00000395446.1_Missense_Mutation_p.P292S|PCDH15_ENST00000361849.3_Missense_Mutation_p.P292S|PCDH15_ENST00000395438.1_Missense_Mutation_p.P292S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	292	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATATTTACCGGAGTTCTCAAC	0.373000										HNSCC(58;0.16)			6	1					0	0	8.12818e-05	0	0
TRIM9	114088	broad.mit.edu	37	14	51560982	51560982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:51560982C>T	ENST00000298355.3	-	1	1797	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	TRIM9_ENST00000338969.5_Missense_Mutation_p.V226I|TRIM9_ENST00000360392.4_Missense_Mutation_p.V226I	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	226					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CAGGTGGAGACCTTGCGTGGG	0.677000													21	9					0	0	0.00152264	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911566	100911566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:100911566C>T	ENST00000328766.5	-	5	1462	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	ARMCX2_ENST00000330154.2_Missense_Mutation_p.D337N|ARMCX2_ENST00000356824.4_Missense_Mutation_p.D337N	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	337						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCCTCAGAATCAGGGACCTCT	0.607000													36	50					0	0	0.000814825	0	0
DSCAM	1826	broad.mit.edu	37	21	42080452	42080452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:42080452C>T	ENST00000400454.1	-	2	766	c.289G>A	c.(289-291)Gat>Aat	p.D97N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	97	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TAAGTATTATCATGGATTAAG	0.473000													30	41					0	0	0.001512	0	0
SYBU	55638	broad.mit.edu	37	8	110655054	110655054	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:110655054G>A	ENST00000399066.3	-	1	850	c.123C>T	c.(121-123)gcC>gcT	p.A41A	SYBU_ENST00000528647.1_Silent_p.A43A|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000424158.2_Silent_p.A49A|SYBU_ENST00000533171.1_Silent_p.A44A|SYBU_ENST00000533895.1_Silent_p.A43A|SYBU_ENST00000433638.1_Silent_p.A44A|SYBU_ENST00000419099.1_Silent_p.A43A|SYBU_ENST00000276646.9_Silent_p.A44A|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000440310.1_Silent_p.A44A|SYBU_ENST00000446070.2_Silent_p.A43A|SYBU_ENST00000422135.1_Silent_p.A44A|SYBU_ENST00000408908.2_Silent_p.A44A	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	44	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GAGACTCAGAGGCTGGGGACA	0.547000													17	64					0	0	0.000958276	0	0
ELFN2	114794	broad.mit.edu	37	22	37771217	37771217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr22:37771217C>T	ENST00000402918.1	-	3	1143	c.358G>A	c.(358-360)Gag>Aag	p.E120K	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.E120K	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	120						cell surface|integral to membrane		p.E120K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGCATGCCCTCCGTCAGGTTG	0.622000													20	62					0	0	0.00121646	0	0
SLC4A8	9498	broad.mit.edu	37	12	51883516	51883516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:51883516G>A	ENST00000453097.2	+	19	2698	c.2481G>A	c.(2479-2481)atG>atA	p.M827I	SLC4A8_ENST00000358657.3_Missense_Mutation_p.M854I	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	827					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ACCTACTGATGGTGGCCATCA	0.517000													47	8					0	0	0.000781405	0	0
POLR2H	5437	broad.mit.edu	37	3	184086028	184086028	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:184086028T>A	ENST00000456318.1	+	6	1448	c.399T>A	c.(397-399)caT>caA	p.H133Q	POLR2H_ENST00000429568.1_Missense_Mutation_p.W155R|POLR2H_ENST00000438240.1_Missense_Mutation_p.H97Q|POLR2H_ENST00000452961.1_Missense_Mutation_p.H97Q|POLR2H_ENST00000296223.3_Missense_Mutation_p.H133Q|POLR2H_ENST00000443489.1_Missense_Mutation_p.H69Q|POLR2H_ENST00000430783.1_Missense_Mutation_p.H105Q|EIF2B5_ENST00000444495.1_Intron	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	133					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAACCTGCATGGATTCGAGG	0.567000													64	52					0	0	0.000781405	0	0
MEP1A	4224	broad.mit.edu	37	6	46761430	46761430	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:46761430A>T	ENST00000230588.4	+	3	131	c.122A>T	c.(121-123)aAg>aTg	p.K41M		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	41					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GGTGAACAGAAGGATATTTCA	0.323000													5	16					0	0	0.000274275	0	0
PDE4B	5142	broad.mit.edu	37	1	66713297	66713297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:66713297C>T	ENST00000423207.2	+	2	876	c.391C>T	c.(391-393)Cca>Tca	p.P131S	PDE4B_ENST00000329654.4_Missense_Mutation_p.P146S|PDE4B_ENST00000371049.3_Missense_Mutation_p.P146S	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	146					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGACTTGTCACCAAAGGCGAT	0.517000													34	10					0	0	0.000814825	0	0
TFE3	7030	broad.mit.edu	37	X	48896763	48896763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:48896763C>T	ENST00000315869.7	-	3	662	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	135					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GCGGCCTGTTCCCGACGCTCA	0.662000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								6	10					0	0	8.12818e-05	0	0
NMD3	51068	broad.mit.edu	37	3	160939835	160939835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:160939835C>T	ENST00000460469.1	+	1	489	c.34C>T	c.(34-36)Cct>Tct	p.P12S	NMD3_ENST00000351193.2_Missense_Mutation_p.P12S|NMD3_ENST00000472947.1_Missense_Mutation_p.P12S			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	12					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CGACCGCAGCCCTGGACACAT	0.423000													33	37					0	0	0.000953801	0	0
GPR112	139378	broad.mit.edu	37	X	135428847	135428847	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:135428847C>T	ENST00000394143.1	+	6	3273	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	GPR112_ENST00000412101.1_Silent_p.I789I|GPR112_ENST00000394141.1_Silent_p.I789I|GPR112_ENST00000370652.1_Silent_p.I994I|GPR112_ENST00000287534.4_Silent_p.I931I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	994					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGATGGTATCTTACCTCCAC	0.502000													11	19					0	0	0.000673444	0	0
ANGPTL7	10218	broad.mit.edu	37	1	11253759	11253759	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:11253759G>A	ENST00000376819.3	+	3	839	c.600G>A	c.(598-600)ggG>ggA	p.G200G	ANGPTL7_ENST00000476934.1_3'UTR|MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	200	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GCATCCGTGGGGACTTCTGGC	0.602000													29	7					0	0	0.000339439	0	0
TP63	8626	broad.mit.edu	37	3	189455644	189455644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:189455644G>A	ENST00000264731.3	+	2	267	c.178G>A	c.(178-180)Gat>Aat	p.D60N	TP63_ENST00000418709.2_Missense_Mutation_p.D60N|TP63_ENST00000382063.4_Missense_Mutation_p.D60N|TP63_ENST00000320472.5_Missense_Mutation_p.D60N|TP63_ENST00000440651.2_Missense_Mutation_p.D60N|TP63_ENST00000392460.3_Missense_Mutation_p.D60N	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	60	Transcription activation.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCATATCTGGGATTTTCTGGA	0.388000										HNSCC(45;0.13)			7	25					0	0	0.000157383	0	0
ATP1A3	478	broad.mit.edu	37	19	42482129	42482129	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:42482129G>A	ENST00000545399.1	-	14	2094	c.1941C>T	c.(1939-1941)atC>atT	p.I647I	ATP1A3_ENST00000602133.1_Silent_p.I604I|ATP1A3_ENST00000302102.5_Silent_p.I634I|ATP1A3_ENST00000543770.1_Silent_p.I645I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	634					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCCGGGCGGCGATGTCCTCCA	0.632000													23	60					0	0	0.00047179	0	0
PARK2	5071	broad.mit.edu	37	6	162864403	162864403	+	Missense_Mutation	SNP	G	G	A	rs148990138	byFrequency	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:162864403G>A	ENST00000366898.1	-	2	212	c.110C>T	c.(109-111)cCg>cTg	p.P37L	PARK2_ENST00000366896.1_Missense_Mutation_p.P37L|PARK2_ENST00000366897.1_Missense_Mutation_p.P37L|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366892.1_Missense_Mutation_p.P37L|PARK2_ENST00000366894.1_5'UTR	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	37	Ubiquitin-like.		P -> L (in PARK2).		aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTGGTCAGCCGGAACCCCCTG	0.572000													4	36					0	0	0.000602214	0	0
SNHG14	104472715	broad.mit.edu	37	15	25425552	25425552	+	RNA	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr15:25425552C>T	ENST00000441592.2	+	0	540																											AAGCTCAGGCCCTTCCTGGCA	0.612000													41	5					0	0	0.00111076	0	0
SDE2	163859	broad.mit.edu	37	1	226175730	226175730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:226175730G>A	ENST00000272091.7	-	6	1019	c.1001C>T	c.(1000-1002)cCc>cTc	p.P334L	SDE2_ENST00000366817.1_Missense_Mutation_p.P239L	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		AGCCCCAGTGGGCTCCTCTTC	0.493000													74	49					0	0	0.000781405	0	0
RNF10	9921	broad.mit.edu	37	12	120990331	120990331	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:120990331C>T	ENST00000325954.4	+	3	845	c.384C>T	c.(382-384)agC>agT	p.S128S	RNF10_ENST00000413266.2_Silent_p.S128S	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	128	Interaction with MEOX2.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGAGTTTAGCCCTGCCCAGT	0.453000													33	11					0	0	0.00128727	0	0
NSDHL	50814	broad.mit.edu	37	X	152037581	152037581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:152037581G>A	ENST00000370274.3	+	8	1237	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	NSDHL_ENST00000440023.1_Missense_Mutation_p.G348D	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	348					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AAGGCCATGGGCTACCAGCCA	0.597000													23	34					0	0	0.000375601	0	0
TGM3	7053	broad.mit.edu	37	20	2293587	2293587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:2293587G>A	ENST00000381458.5	+	5	647	c.584G>A	c.(583-585)aGg>aAg	p.R195K		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	195					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ATCTTGGATAGGAGTCTGAAT	0.468000													28	86					0	0	0.00127121	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817403	45817403	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:45817403G>A	ENST00000358525.4	-	4	547	c.432C>T	c.(430-432)tcC>tcT	p.S144S	SLC6A20_ENST00000353278.4_Silent_p.S144S|SLC6A20_ENST00000456124.2_Silent_p.S144S	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	144					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGTACTGTGTGGAGGACGCCT	0.592000													40	116					0	0	0.000437636	0	0
ZNF521	25925	broad.mit.edu	37	18	22807111	22807111	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:22807111G>A	ENST00000361524.3	-	4	919	c.771C>T	c.(769-771)ttC>ttT	p.F257F	ZNF521_ENST00000538137.2_Silent_p.F257F|ZNF521_ENST00000584787.1_Silent_p.F37F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	257					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGTCTTCCGGGAAGTCAAAGC	0.557000			T	PAX5	ALL								31	8					0	0	0.000491102	0	0
CYP4A11	1579	broad.mit.edu	37	1	47401203	47401203	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:47401203C>T	ENST00000310638.4	-	5	658	c.627G>A	c.(625-627)caG>caA	p.Q209Q	CYP4A11_ENST00000371905.1_Silent_p.Q209Q|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Silent_p.Q105Q|CYP4A11_ENST00000371904.4_Silent_p.Q209Q	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	209					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ACCTGTCCACCTGGATGCTGC	0.582000													38	7					0	0	0.000680045	0	0
C8orf47	203111	broad.mit.edu	37	8	99101579	99101579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:99101579G>A	ENST00000318528.3	+	2	693	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	112										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GGGACTGGAGGAATCTGGGCC	0.582000													13	33					0	0	0.00185496	0	0
CSMD1	64478	broad.mit.edu	37	8	3046514	3046514	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:3046514G>A	ENST00000520002.1	-	36	5976	c.5421C>T	c.(5419-5421)ttC>ttT	p.F1807F	CSMD1_ENST00000542608.1_Silent_p.F1806F|CSMD1_ENST00000537824.1_Silent_p.F1806F|CSMD1_ENST00000602557.1_Silent_p.F1807F|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Silent_p.F1807F|CSMD1_ENST00000539096.1_Silent_p.F1806F|CSMD1_ENST00000602723.1_Silent_p.F1807F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1807	CUB 11.					integral to membrane		p.F1535F(1)|p.F1806F(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCGTTGAGTGAAATTGCCAC	0.458000													19	15					0	0	0.00188189	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22880653	22880653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:22880653G>A	ENST00000376573.4	-	4	625	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.R74C|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	133	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GTGTGAAAACGAGCTCCACTG	0.532000													27	9					0	0	0.000720815	0	0
FOXD4	2298	broad.mit.edu	37	9	117498	117498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:117498C>T	ENST00000382500.2	-	1	919	c.622G>A	c.(622-624)Gga>Aga	p.G208R		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	208	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AGGTGGGCTCCCGGGGTCGGT	0.701000													53	40					0	0	0.000781405	0	0
MAST3	23031	broad.mit.edu	37	19	18249889	18249889	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:18249889C>T	ENST00000262811.5	+	19	2073	c.2073C>T	c.(2071-2073)tcC>tcT	p.S691S		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	691	AGC-kinase C-terminal.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						AAGAATCGTCCACAGAGATCC	0.597000													3	8					0	0	0.00024832	0	0
KIAA1217	56243	broad.mit.edu	37	10	24817015	24817015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:24817015G>A	ENST00000376451.2	+	9	2358	c.2098G>A	c.(2098-2100)Gga>Aga	p.G700R	KIAA1217_ENST00000376452.3_Missense_Mutation_p.G982R|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G1017R|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G700R|KIAA1217_ENST00000376462.1_Missense_Mutation_p.G937R|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G982R|KIAA1217_ENST00000307544.6_Missense_Mutation_p.G700R|KIAA1217_ENST00000396446.1_Missense_Mutation_p.G700R			Q5T5P2	SKT_HUMAN	KIAA1217	1017					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACTGCCAAGGGGAGATGCCCC	0.512000													34	9					0	0	0.000491102	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5232487	5232487	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:5232487C>G	ENST00000274181.7	+	12	1846	c.1708C>G	c.(1708-1710)Cgg>Ggg	p.R570G		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	570	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TTAGTGGTGCCGGGGAGGACA	0.507000													21	36					0	0	0.000295444	0	0
SLC6A20	54716	broad.mit.edu	37	3	45807066	45807066	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:45807066C>T	ENST00000358525.4	-	8	1381	c.1266G>A	c.(1264-1266)aaG>aaA	p.K422K	SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000353278.4_Silent_p.K385K|SLC6A20_ENST00000456124.2_Silent_p.K422K	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	422					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TGGAGATGATCTTGCTGTCTG	0.627000													16	7					0	0	0.000308642	0	0
CRHR1	1394	broad.mit.edu	37	17	43884400	43884400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:43884400C>T	ENST00000314537.5	+	2	283	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	CRHR1_ENST00000339069.5_5'UTR|RP11-105N13.4_ENST00000587305.1_RNA|CRHR1_ENST00000577353.1_Missense_Mutation_p.P20S|CRHR1_ENST00000398285.3_Missense_Mutation_p.P20S|CRHR1_ENST00000352855.5_Missense_Mutation_p.P20S|CRHR1_ENST00000293493.7_5'UTR	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	20					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGGGCTGAACCCCGTCTCTGC	0.607000													20	18					0	0	0.000586117	0	0
SAMSN1	64092	broad.mit.edu	37	21	15870784	15870784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:15870784C>T	ENST00000285670.2	-	8	1276	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.E132K|SAMSN1_ENST00000400566.1_Missense_Mutation_p.E300K	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	300					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		AGGAAGTTTTCAGCAGCTGAT	0.338000													16	48					0	0	0.000958276	0	0
BRCA2	675	broad.mit.edu	37	13	32907491	32907491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr13:32907491G>A	ENST00000544455.1	+	10	2103	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E626K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	626					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAATGCTTTTGAAGCACCACT	0.318000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			11	42					0	0	0.000308642	0	0
MUC16	94025	broad.mit.edu	37	19	9046211	9046211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:9046211C>T	ENST00000397910.4	-	5	35623	c.35420G>A	c.(35419-35421)gGt>gAt	p.G11807D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11809	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCTCTGCACCAGGTCTAAT	0.473000													19	15					0	0	0.00188189	0	0
TTN	7273	broad.mit.edu	37	2	179430378	179430378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:179430378C>T	ENST00000589042.1	-	326	80705	c.80481G>A	c.(80479-80481)tgG>tgA	p.W26827*	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W25186*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W17762*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W17954*|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W17887*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W24259*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25186	Fibronectin type-III 95.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACAATGCTCCATTTTTCAG	0.443000													32	7					0	0	0.000409698	0	0
ABCA8	10351	broad.mit.edu	37	17	66878810	66878810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:66878810C>T	ENST00000269080.2	-	28	3775	c.3638G>A	c.(3637-3639)gGa>gAa	p.G1213E	ABCA8_ENST00000430352.2_Missense_Mutation_p.G1253E|ABCA8_ENST00000586539.1_Missense_Mutation_p.G1253E	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1213						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTCATCCTCTCCTTCTGGTTC	0.338000													21	53					0	0	0.00152264	0	0
TTC39C	125488	broad.mit.edu	37	18	21712461	21712461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:21712461G>A	ENST00000540918.2	+	9	1004	c.754G>A	c.(754-756)Ggc>Agc	p.G252S	TTC39C_ENST00000304621.6_Missense_Mutation_p.G498S|TTC39C_ENST00000317571.3_Missense_Mutation_p.G559S			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	559							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GGATTTCTCTGGCTACGACTT	0.463000													19	12					0	0	0.00188189	0	0
TAF1L	138474	broad.mit.edu	37	9	32630827	32630827	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:32630827C>A	ENST00000242310.4	-	1	4840	c.4751G>T	c.(4750-4752)cGg>cTg	p.R1584L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1584	Bromo 2.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAAACTCTCCCGACTCTGATA	0.378000													19	32					4.96729e-08	4.11426e-07	0.00121646	1	0
OR2J3	442186	broad.mit.edu	37	6	29080273	29080273	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:29080273C>T	ENST00000377169.1	+	1	606	c.606C>T	c.(604-606)ctC>ctT	p.L202L		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AGCTGACCCTCATGATCACAA	0.463000													21	31					0	0	0.00188189	0	0
BAI3	577	broad.mit.edu	37	6	69785900	69785900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:69785900C>T	ENST00000370598.1	+	17	3271	c.2450C>T	c.(2449-2451)cCc>cTc	p.P817L		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	817	GPS.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACTTTGAATCCCTATTGTGTA	0.333000													15	18					0	0	0.000958276	0	0
OR51S1	119692	broad.mit.edu	37	11	4870293	4870293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:4870293C>T	ENST00000322101.2	-	1	221	c.146G>A	c.(145-147)gGa>gAa	p.G49E	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGCCATTTCCCAGTGCAGA	0.567000													19	20					0	0	0.000958276	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858383	9858383	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:9858383C>T	ENST00000396573.2	-	14	3327	c.3018G>A	c.(3016-3018)gcG>gcA	p.A1006A	GRIN2A_ENST00000535259.1_Silent_p.A849A|GRIN2A_ENST00000562109.1_Silent_p.A1006A|GRIN2A_ENST00000404927.2_Silent_p.A1006A|GRIN2A_ENST00000330684.3_Silent_p.A1006A|GRIN2A_ENST00000396575.2_Silent_p.A1006A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1006					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.A1006A(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCTAGAGTTCGCTTTGGATT	0.507000													21	23					0	0	0.00152264	0	0
HCK	3055	broad.mit.edu	37	20	30662496	30662496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:30662496G>A	ENST00000534862.1	+	6	703	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	HCK_ENST00000518730.1_Missense_Mutation_p.A112T|HCK_ENST00000520553.1_Missense_Mutation_p.A113T|HCK_ENST00000538448.1_Missense_Mutation_p.A113T|HCK_ENST00000375862.2_Missense_Mutation_p.A133T|HCK_ENST00000375852.2_Missense_Mutation_p.A134T	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	134	SH3.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAACTATGTCGCCCGCGTTGA	0.547000													33	104					0	0	0.000814825	0	0
THBS2	7058	broad.mit.edu	37	6	169640626	169640626	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:169640626G>C	ENST00000366787.3	-	7	1202	c.953C>G	c.(952-954)tCa>tGa	p.S318*		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	318	VWFC.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCAGCAAGCTGACATGTTCCT	0.498000													21	17					0	0	0.00047179	0	0
RBBP4	5928	broad.mit.edu	37	1	33138102	33138102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:33138102C>T	ENST00000373493.5	+	9	1177	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	RBBP4_ENST00000458695.2_Missense_Mutation_p.R305C|RBBP4_ENST00000373485.1_Missense_Mutation_p.R340C|RBBP4_ENST00000414241.3_Missense_Mutation_p.R339C|RBBP4_ENST00000544435.1_Missense_Mutation_p.R88C	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	340					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TGGTACTGATCGCAGACTGAA	0.358000													59	16					0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196749357	196749357	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:196749357G>A	ENST00000312428.6	-	35	5815	c.5715C>T	c.(5713-5715)gtC>gtT	p.V1905V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1905					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGGAAATGGGACAGTTAGTG	0.408000													38	14					0	0	0.000509022	0	0
PRKAA2	5563	broad.mit.edu	37	1	57171824	57171824	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:57171824G>A	ENST00000371244.4	+	8	1419	c.1353G>A	c.(1351-1353)gtG>gtA	p.V451V		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	451					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GCAATTACGTGAAAATGAGCT	0.338000													29	21					0	0	0.001512	0	0
SORCS3	22986	broad.mit.edu	37	10	106983007	106983007	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:106983007G>A	ENST00000369701.3	+	20	3095	c.2868_splice	c.e20+1	p.K956_splice	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	956						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATAGCACAAAGGTTTGGCCCT	0.453000													29	28					0	0	0.000409698	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129668810	129668810	+	Missense_Mutation	SNP	G	G	A	rs143076145	byFrequency	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:129668810G>A	ENST00000358303.4	-	5	637	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R164C|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.R185C|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R185C	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	185	F-box-like.				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CTTTGAAAACGATCTAGGAAT	0.443000													56	30					0	0	0.000781405	0	0
MFSD9	84804	broad.mit.edu	37	2	103340158	103340158	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:103340158C>T	ENST00000258436.5	-	5	681		c.e5+1			NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9						transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TGTCAACTTACCAGCATTGAG	0.383000													26	7					0	0	0.000878237	0	0
RLIM	51132	broad.mit.edu	37	X	73812706	73812706	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:73812706C>T	ENST00000332687.6	-	4	662	c.444G>A	c.(442-444)ggG>ggA	p.G148G	RLIM_ENST00000349225.2_Silent_p.G148G	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	148					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATTTTGGCTCCCATTATTAC	0.418000													61	91					0	0	0.000781405	0	0
ARSJ	79642	broad.mit.edu	37	4	114823685	114823685	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:114823685G>A	ENST00000315366.7	-	2	2411	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	ARSJ_ENST00000541197.1_Silent_p.I515I	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	515						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GCTTCTTCACGATTCCTGGAT	0.502000													11	40					0	0	0.000978159	0	0
ITGAE	3682	broad.mit.edu	37	17	3680914	3680914	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:3680914C>T	ENST00000263087.4	-	2	173	c.75G>A	c.(73-75)cgG>cgA	p.R25R		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	25					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGAGCCAGGGCCGGGCCACAT	0.597000													23	56					0	0	0.000720815	0	0
CAMK1	8536	broad.mit.edu	37	3	9799267	9799267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:9799267C>T	ENST00000256460.3	-	12	1246	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	357					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GTGCCCGGCTCCACGCAGCAG	0.687000													23	21					0	0	0.00047179	0	0
JAM2	58494	broad.mit.edu	37	21	27074551	27074551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:27074551C>T	ENST00000480456.1	+	6	1217	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	JAM2_ENST00000312957.5_Missense_Mutation_p.R223C|JAM2_ENST00000425221.2_Missense_Mutation_p.R187C|JAM2_ENST00000400532.1_Missense_Mutation_p.R223C	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	223	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TGTTGGATATCGCAGGTGTCC	0.398000													6	23					0	0	0.000157383	0	0
COL1A1	1277	broad.mit.edu	37	17	48266125	48266125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:48266125C>T	ENST00000225964.5	-	42	3195	c.3077G>A	c.(3076-3078)cGa>cAa	p.R1026Q		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1026	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGAACCGTCTCGTCCAGGGGA	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						27	32					0	0	0.00127121	0	0
FSCN1	6624	broad.mit.edu	37	7	5643196	5643196	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:5643196G>C	ENST00000382361.3	+	3	1173	c.1059G>C	c.(1057-1059)aaG>aaC	p.K353N	FSCN1_ENST00000340250.6_Missense_Mutation_p.K332N	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	353					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CCAATGGCAAGTTTGTGACCT	0.622000													16	119					0	0	0.000422831	0	0
ZNF556	80032	broad.mit.edu	37	19	2877583	2877583	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:2877583G>A	ENST00000586426.1	+	4	711	c.624G>A	c.(622-624)ggG>ggA	p.G208G	ZNF556_ENST00000307635.2_Silent_p.G209G			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		AATCTTGCGGGAAGACATTTC	0.488000													17	60					0	0	0.00074312	0	0
GPR98	84059	broad.mit.edu	37	5	89979463	89979463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:89979463C>T	ENST00000405460.2	+	28	5821	c.5725C>T	c.(5725-5727)Cct>Tct	p.P1909S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1909					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGACTCTGATCCTGATGGTGA	0.413000													4	7					0	0	0.00024832	0	0
SCN11A	11280	broad.mit.edu	37	3	38938701	38938701	+	Silent	SNP	A	A	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:38938701A>G	ENST00000302328.3	-	14	2236	c.2038T>C	c.(2038-2040)Tta>Cta	p.L680L	SCN11A_ENST00000456224.3_Silent_p.L680L|SCN11A_ENST00000444237.2_Silent_p.L680L|SCN11A_ENST00000450244.1_Silent_p.L680L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	680					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GATTTGGCTAACTTGAAGACC	0.418000													17	10					0	0	0.00121646	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296465	39296465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:39296465G>A	ENST00000345847.4	-	1	274	c.275C>T	c.(274-276)cCc>cTc	p.P92L		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	88	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GCAGCACTGGGGTCTGCAGCA	0.657000													11	42					0	0	0.000978159	0	0
EVC	2121	broad.mit.edu	37	4	5747008	5747008	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:5747008C>T	ENST00000382674.2	+	7	1063	c.879C>T	c.(877-879)taC>taT	p.Y293Y	EVC_ENST00000509451.1_Silent_p.Y293Y|EVC_ENST00000264956.6_Silent_p.Y293Y			P57679	EVC_HUMAN	Ellis van Creveld syndrome	293					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACTCTGAGTACATCACCCTGG	0.428000													27	24					0	0	0.00127121	0	0
GRK7	131890	broad.mit.edu	37	3	141535598	141535598	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:141535598G>A	ENST00000264952.2	+	4	1505	c.1368G>A	c.(1366-1368)acG>acA	p.T456T		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	456	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TCTTTAAAACGATCAACTTTC	0.423000													17	54					0	0	0.000422831	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103027443	103027443	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:103027443C>T	ENST00000375735.2	+	26	4215	c.4071C>T	c.(4069-4071)ggC>ggT	p.G1357G	DYNC2H1_ENST00000398093.3_Silent_p.G1357G|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1357	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCATTTTCGGCCGTGGAGCAT	0.363000													12	21					0	0	0.00136819	0	0
SMC1B	27127	broad.mit.edu	37	22	45802514	45802514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr22:45802514G>A	ENST00000357450.4	-	4	441	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	SMC1B_ENST00000404354.3_Missense_Mutation_p.P148S	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	148					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTTTCTTTGGGTTTCTTCACT	0.328000													31	40					0	0	0.000814825	0	0
TMEM106A	113277	broad.mit.edu	37	17	41365228	41365228	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:41365228C>T	ENST00000331615.3	+	3	405	c.168C>T	c.(166-168)ttC>ttT	p.F56F	TMEM106A_ENST00000588659.1_Silent_p.F56F|TMEM106A_ENST00000541594.1_Silent_p.F8F|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000536052.1_Silent_p.F56F	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	56						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		ATGCCAGCTTCGTGACTTGTC	0.542000													105	89					0	0	0.000781405	0	0
NES	10763	broad.mit.edu	37	1	156639485	156639485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:156639485C>T	ENST00000368223.3	-	4	4627	c.4495G>A	c.(4495-4497)Gag>Aag	p.E1499K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1499	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACTCTTCCTCTGAGCCAGAA	0.612000													27	34					0	0	0.00058488	0	0
TMC5	79838	broad.mit.edu	37	16	19452005	19452005	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:19452005C>T	ENST00000396229.2	+	3	1394	c.645C>T	c.(643-645)aaC>aaT	p.N215N	TMC5_ENST00000541464.1_Silent_p.N215N|TMC5_ENST00000381414.4_Silent_p.N215N|TMC5_ENST00000542583.2_Silent_p.N215N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	215						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTCAACCTAACTCTCCACCCT	0.458000													20	26					0	0	0.00188189	0	0
WDR62	284403	broad.mit.edu	37	19	36592210	36592210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:36592210C>T	ENST00000401500.2	+	24	2997	c.2962C>T	c.(2962-2964)Ccg>Tcg	p.P988S	WDR62_ENST00000270301.7_Missense_Mutation_p.P988S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	988					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGACCAGAGCCCGCCTGAGGG	0.637000													10	9					0	0	0.00136819	0	0
FLNC	2318	broad.mit.edu	37	7	128490469	128490469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:128490469C>T	ENST00000325888.8	+	32	5591	c.5330C>T	c.(5329-5331)cCa>cTa	p.P1777L	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.P1744L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1777					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCTGTGGAGCCAATGGAGTCC	0.607000													37	192					0	0	0.000589545	0	0
CDCP1	64866	broad.mit.edu	37	3	45127476	45127476	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:45127476A>C	ENST00000296129.1	-	9	2299	c.2165T>G	c.(2164-2166)tTt>tGt	p.F722C		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	722						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CCCTTTCTGAAACTTTTTTGG	0.473000													143	112					0	0	0.000781405	0	0
UNC45B	146862	broad.mit.edu	37	17	33504046	33504046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:33504046C>T	ENST00000268876.5	+	16	2139	c.2042C>T	c.(2041-2043)cCc>cTc	p.P681L	UNC45B_ENST00000378449.1_Missense_Mutation_p.P600L|UNC45B_ENST00000591048.1_Missense_Mutation_p.P600L|UNC45B_ENST00000433649.1_Missense_Mutation_p.P679L|UNC45B_ENST00000394570.2_Missense_Mutation_p.P679L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	681					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCCCTGATTCCCCTGGCTTTG	0.567000													47	31					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9068621	9068621	+	Silent	SNP	T	T	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:9068621T>A	ENST00000397910.4	-	3	19028	c.18825A>T	c.(18823-18825)tcA>tcT	p.S6275S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6277	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AATTTTGAGGTGAACGAGTCA	0.483000													28	28					0	0	0.00106085	0	0
FMO3	2328	broad.mit.edu	37	1	171083218	171083218	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:171083218A>C	ENST00000367755.4	+	7	1010	c.899A>C	c.(898-900)aAg>aCg	p.K300T	FMO3_ENST00000392085.2_Missense_Mutation_p.K300T|FMO3_ENST00000542847.1_Missense_Mutation_p.K280T|FMO3_ENST00000538429.1_Missense_Mutation_p.K237T	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	300					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGTCCGTAAAGCCTAACGTG	0.438000													7	4					0	0	0.000274275	0	0
ZCCHC3	85364	broad.mit.edu	37	20	279320	279320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:279320C>T	ENST00000382352.3	+	1	1584	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	365							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCACCTGAGCCCTTACTGCCG	0.612000													19	42					0	0	0.00188189	0	0
GNAI1	2770	broad.mit.edu	37	7	79818515	79818515	+	Silent	SNP	T	T	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:79818515T>C	ENST00000351004.3	+	3	644	c.271T>C	c.(271-273)Ttg>Ctg	p.L91L	GNAI1_ENST00000457358.2_Silent_p.L39L|GNAI1_ENST00000490206.1_3'UTR	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	91					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TATGGGGAGGTTGAAGATAGA	0.408000													13	15					0	0	0.00074312	0	0
TEX15	56154	broad.mit.edu	37	8	30704622	30704622	+	Silent	SNP	A	A	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:30704622A>G	ENST00000256246.2	-	1	1986	c.1912T>C	c.(1912-1914)Tta>Cta	p.L638L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	638										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGTTTTACTAACAAACCAAAA	0.323000													9	36					0	0	0.000442599	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726520	25726520	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:25726520A>T	ENST00000297012.3	-	1	270	c.236T>A	c.(235-237)aTt>aAt	p.I79N		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	79					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GCGGGGAATAATGCGAGTTTT	0.532000													74	44					0	0	0.000781405	0	0
CTDP1	9150	broad.mit.edu	37	18	77475254	77475254	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:77475254C>T	ENST00000299543.7	+	8	1941	c.1794C>T	c.(1792-1794)gtC>gtT	p.V598V	CTDP1_ENST00000075430.7_Silent_p.V598V	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	598					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGATCCTGGTCCGTGTACACA	0.587000													10	2					0	0	0.000673444	0	0
MGAM	8972	broad.mit.edu	37	7	141754560	141754560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:141754560G>A	ENST00000475668.2	+	27	3220	c.3166G>A	c.(3166-3168)Gat>Aat	p.D1056N	MGAM_ENST00000549489.2_Missense_Mutation_p.D1056N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1056					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTAGATTTATGATCCCAACAA	0.418000													73	26					0	0	0.000781405	0	0
SIGLEC6	946	broad.mit.edu	37	19	52031506	52031506	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:52031506C>T	ENST00000346477.3	-	5	1034	c.964_splice	c.e5-1	p.W322_splice	SIGLEC6_ENST00000425629.3_Splice_Site_p.W338_splice|SIGLEC6_ENST00000436458.1_Splice_Site_p.W286_splice|SIGLEC6_ENST00000359982.4_Splice_Site_p.W349_splice|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000343300.4_Intron	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	338	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CTTCTGGTTTCCCTATAATTT	0.498000													18	24					0	0	0.00121646	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48602382	48602382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:48602382C>T	ENST00000323776.5	+	13	2071	c.1909C>T	c.(1909-1911)Ccg>Tcg	p.P637S	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.P600S	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	600					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAGAAATCCTCCGGTGAGGCC	0.662000													37	35					0	0	0.00170553	0	0
PLAA	9373	broad.mit.edu	37	9	26925929	26925929	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:26925929G>A	ENST00000397292.3	-	6	1180	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	PLAA_ENST00000520884.1_Silent_p.L255L	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	255					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CAGATTCTCAGAGATCTGTCC	0.383000													21	7					0	0	0.000375601	0	0
DNAH9	1770	broad.mit.edu	37	17	11778270	11778270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:11778270C>T	ENST00000262442.3	+	53	10315	c.10247C>T	c.(10246-10248)cCc>cTc	p.P3416L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3416L|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3416					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CACCAGACTCCCATTCCAGTC	0.557000													23	69					0	0	0.000720815	0	0
ALDH3A1	218	broad.mit.edu	37	17	19648410	19648410	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:19648410G>A	ENST00000457500.2	-	1	362	c.33C>T	c.(31-33)gcC>gcT	p.A11A	ALDH3A1_ENST00000225740.6_Silent_p.A11A|ALDH3A1_ENST00000494157.2_Intron|ALDH3A1_ENST00000485231.1_Intron|ALDH3A1_ENST00000444455.1_Silent_p.A11A|ALDH3A1_ENST00000395555.3_Silent_p.A11A	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	11					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	AGGCGGCGCGGGCGCGCTTCA	0.711000													14	12					0	0	0.000566183	0	0
SLC28A2	9153	broad.mit.edu	37	15	45556157	45556157	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr15:45556157C>T	ENST00000347644.3	+	6	590	c.525C>T	c.(523-525)atC>atT	p.I175I	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	175					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGCAGCTGATCCCCTTTGCAG	0.502000													25	8					0	0	0.00047179	0	0
DNAH9	1770	broad.mit.edu	37	17	11515152	11515152	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:11515152G>A	ENST00000579828.1	+	4	988	c.959G>A	c.(958-960)tGa>tAa	p.*320*	DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000262442.3_Intron|DNAH9_ENST00000579406.1_Intron			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	0	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCGTCGAATGATGCATTCAC	0.438000													19	14					0	0	0.000958276	0	0
MYO1C	4641	broad.mit.edu	37	17	1384095	1384095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:1384095G>A	ENST00000359786.5	-	6	1036	c.712C>T	c.(712-714)Cac>Tac	p.H238Y	MYO1C_ENST00000438665.2_Missense_Mutation_p.H219Y|MYO1C_ENST00000361007.2_Missense_Mutation_p.H203Y|MYO1C_ENST00000545534.2_Missense_Mutation_p.H214Y|MYO1C_ENST00000575158.1_Missense_Mutation_p.H203Y|MYO1C_ENST00000573198.1_5'UTR	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	238	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TAGAAGATGTGGAAGTTCCGC	0.612000													40	47					0	0	0.00148497	0	0
MIR520A	574467	broad.mit.edu	37	19	54194157	54194157	+	RNA	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:54194157G>A	ENST00000384862.1	+	0	23					NR_030189.1																						CCCTCCAGAGGGAAGTACTTT	0.423000													28	90					0	0	0.000409698	0	0
TECTA	7007	broad.mit.edu	37	11	121016263	121016263	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:121016263G>A	ENST00000392793.1	+	12	3814		c.e12-1		TECTA_ENST00000478058.1_Splice_Site|TECTA_ENST00000264037.2_Splice_Site			O75443	TECTA_HUMAN	tectorin alpha						cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCCTCTTACAGGTCAACAGTG	0.498000													71	194					0	0	0.000781405	0	0
TLR4	7099	broad.mit.edu	37	9	120474949	120474949	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:120474949C>T	ENST00000355622.6	+	3	644	c.543C>T	c.(541-543)gaC>gaT	p.D181D	TLR4_ENST00000394487.4_Silent_p.D141D|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	181					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGCACTTGGACCTTTCCAGCA	0.383000													14	6					0	0	0.000219431	0	0
TET1	80312	broad.mit.edu	37	10	70404931	70404931	+	Silent	SNP	T	T	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:70404931T>C	ENST00000373644.4	+	4	2654	c.2445T>C	c.(2443-2445)caT>caC	p.H815H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	815					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTTGTGATCATCTCAAGGGGA	0.388000													49	22					0	0	0.000781405	0	0
MYOM1	8736	broad.mit.edu	37	18	3188889	3188889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:3188889C>T	ENST00000400569.3	-	4	961	c.628G>A	c.(628-630)Gca>Aca	p.A210T	MYOM1_ENST00000261606.7_Missense_Mutation_p.A210T|MYOM1_ENST00000356443.4_Missense_Mutation_p.A210T			P52179	MYOM1_HUMAN	myomesin 1	210	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCCTGGATGCCGTGGACTGC	0.522000													33	9					0	0	0.000692331	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	14					0	0	0.00178596	0	0
ASB15	142685	broad.mit.edu	37	7	123264737	123264737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:123264737G>A	ENST00000451558.1	+	10	1087	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	ASB15_ENST00000275699.3_Missense_Mutation_p.R189Q|RP11-390E23.3_ENST00000429396.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.R189Q|ASB15_ENST00000451215.1_Missense_Mutation_p.R189Q|RP11-390E23.3_ENST00000451016.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.R189Q|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	189					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AAGCAAGGCCGAAAAGATATC	0.512000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	85					0	0	0.00152264	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751618	33751618	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:33751618G>A	ENST00000504830.1	-	3	860	c.525C>T	c.(523-525)ttC>ttT	p.F175F	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.F175F|ADAMTS12_ENST00000515401.1_Silent_p.F175F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	175					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CGGGTTCAATGAAAAAGTCTC	0.418000										HNSCC(64;0.19)			23	22					0	0	0.000720815	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20442053	20442053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:20442053C>T	ENST00000375105.3	-	3	297	c.239G>A	c.(238-240)aGc>aAc	p.S80N		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	80			S -> G (in dbSNP:rs584367).		inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGTAGATGCTGCACCCCTG	0.582000										Multiple Myeloma(11;0.12)			52	21					0	0	0.000781405	0	0
FAM9A	171482	broad.mit.edu	37	X	8768137	8768137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:8768137C>T	ENST00000543214.1	-	2	211	c.76G>A	c.(76-78)Ggg>Agg	p.G26R	FAM9A_ENST00000381003.3_Missense_Mutation_p.G26R	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	26						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				TTCGTGGCCCCCTGGGCGGCC	0.632000													18	31					0	0	0.00188189	0	0
C1orf106	55765	broad.mit.edu	37	1	200880585	200880585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:200880585G>A	ENST00000367342.4	+	9	1419	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	C1orf106_ENST00000413687.2_Missense_Mutation_p.D322N	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	407										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTTCAGGGTGGATTCCTTCCG	0.632000													93	91					0	0	0.000781405	0	0
AZGP1	563	broad.mit.edu	37	7	99564768	99564768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:99564768C>T	ENST00000292401.4	-	4	891	c.755G>A	c.(754-756)gGa>gAa	p.G252E	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	252	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AAGAACATCTCCCCGTAACTC	0.582000													8	44					0	0	0.000673444	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110397839	110397839	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:110397839G>A	ENST00000378402.5	+	6	653	c.549G>A	c.(547-549)ggG>ggA	p.G183G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	183	IPT/TIG 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCTCAAATGGGAAAAATGTTA	0.299000										HNSCC(38;0.096)			16	22					0	0	0.00074312	0	0
ABCA11P	79963	broad.mit.edu	37	4	420497	420497	+	RNA	SNP	G	G	A	rs139749429		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:420497G>A	ENST00000451020.2	-	0	541					NR_002451.2																						AACACAAAACGAAACATTTCT	0.383000													18	17					0	0	0.00121646	0	0
DPPA2	151871	broad.mit.edu	37	3	109019282	109019282	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:109019282C>T	ENST00000478945.1	-	8	1101	c.854_splice	c.e8-1	p.R285_splice		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	285						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTTCTTATTCCTGTAAGGCA	0.343000													32	84					0	0	0.000814825	0	0
AP1B1	162	broad.mit.edu	37	22	29750755	29750755	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr22:29750755C>T	ENST00000357586.2	-	7	1008	c.822G>A	c.(820-822)ttG>ttA	p.L274L	AP1B1_ENST00000415447.1_Silent_p.L274L|AP1B1_ENST00000405198.1_Silent_p.L274L|AP1B1_ENST00000402502.1_Silent_p.L274L|AP1B1_ENST00000432560.2_Silent_p.L274L|AP1B1_ENST00000356015.2_Silent_p.L274L|AP1B1_ENST00000317368.7_Silent_p.L274L	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	274					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CGTAGTAGTCCAAGTCCTTAG	0.582000													17	43					0	0	0.000958276	0	0
PDS5A	23244	broad.mit.edu	37	4	39881417	39881417	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:39881417C>T	ENST00000303538.8	-	18	2462	c.1923G>A	c.(1921-1923)ggG>ggA	p.G641G		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	641					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CATCTGCTGTCCCCTCTATTG	0.358000													23	44					0	0	0.000409698	0	0
LINGO4	339398	broad.mit.edu	37	1	151774583	151774583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:151774583G>A	ENST00000368820.3	-	2	1535	c.598C>T	c.(598-600)Ctt>Ttt	p.L200F		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	200						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGACGGGCAAGGGCTAGGCCA	0.647000													17	51					0	0	0.00121646	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987748	154987748	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:154987748C>T	ENST00000368426.3	+	3	749	c.612C>T	c.(610-612)ccC>ccT	p.P204P	ZBTB7B_ENST00000292176.2_Silent_p.P204P|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Silent_p.P204P|ZBTB7B_ENST00000417934.2_Silent_p.P238P	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	204					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCGCAAGCCCCGGAAAGCTT	0.652000													18	20					0	0	0.000295444	0	0
NELL1	4745	broad.mit.edu	37	11	20968909	20968909	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:20968909A>T	ENST00000298925.5	+	12	1336	c.1183A>T	c.(1183-1185)Atg>Ttg	p.M395L	NELL1_ENST00000532434.1_Missense_Mutation_p.M367L|NELL1_ENST00000325319.5_Missense_Mutation_p.M310L|NELL1_ENST00000357134.5_Missense_Mutation_p.M367L			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	367	EGF-like 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AATTACAGAAATGTGTCCTCC	0.408000													20	47					0	0	0.00121646	0	0
ZEB2	9839	broad.mit.edu	37	2	145157015	145157015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:145157015G>A	ENST00000558170.2	-	8	2923	c.1739C>T	c.(1738-1740)cCa>cTa	p.P580L	ZEB2_ENST00000409487.3_Missense_Mutation_p.P580L|ZEB2_ENST00000303660.4_Missense_Mutation_p.P580L|ZEB2_ENST00000539609.3_Missense_Mutation_p.P556L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	580						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCATGAAAATGGAGTGGATAT	0.393000													46	17					0	0	0.000781405	0	0
FAM83B	222584	broad.mit.edu	37	6	54735239	54735239	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:54735239G>A	ENST00000306858.7	+	2	311	c.195G>A	c.(193-195)ttG>ttA	p.L65L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	65										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATTATATTTTGAAAAATGTCC	0.393000													15	31					0	0	0.000219431	0	0
SCGB1D1	10648	broad.mit.edu	37	11	61959560	61959560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:61959560G>A	ENST00000306238.3	+	2	157	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	30						extracellular space	binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						TCTTGGTTCTGAAATCACAGG	0.423000													26	15					0	0	0.001512	0	0
PHKB	5257	broad.mit.edu	37	16	47644739	47644739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:47644739G>A	ENST00000455779.1	+	15	1530	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	PHKB_ENST00000323584.5_Missense_Mutation_p.D456N|PHKB_ENST00000299167.8_Missense_Mutation_p.D456N|PHKB_ENST00000566044.1_Missense_Mutation_p.D449N			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	456					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTTTTCAGCTGATGAACTTAT	0.363000													6	11					0	0	8.12818e-05	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481216	140481216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:140481216C>T	ENST00000231130.2	+	1	983	c.983C>T	c.(982-984)tCc>tTc	p.S328F	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		328	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGCCTATCCGGAAAGTCT	0.453000													26	66					0	0	0.000878237	0	0
FAM107A	11170	broad.mit.edu	37	3	58555568	58555568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:58555568C>T	ENST00000394481.1	-	3	578	c.20G>A	c.(19-21)aGg>aAg	p.R7K	FAM107A_ENST00000447756.2_Missense_Mutation_p.R35K|FAM107A_ENST00000474531.1_Missense_Mutation_p.R38K|FAM107A_ENST00000464064.1_Missense_Mutation_p.R7K|FAM107A_ENST00000360997.2_Missense_Mutation_p.R7K	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	7					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		TGCCCGCTCCCTCTGGATCTC	0.592000													30	36					0	0	0.000692331	0	0
MYO15A	51168	broad.mit.edu	37	17	18065952	18065952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:18065952C>T	ENST00000205890.5	+	58	9909	c.9571C>T	c.(9571-9573)Cgt>Tgt	p.R3191C	MYO15A_ENST00000418233.3_Missense_Mutation_p.R455C|MYO15A_ENST00000451725.2_Missense_Mutation_p.R83C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3191	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTCGGAGGTCGTCTGGAGCT	0.607000													8	27					0	0	0.00136819	0	0
ZNF335	63925	broad.mit.edu	37	20	44589153	44589153	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:44589153G>A	ENST00000322927.2	-	13	1894	c.1794C>T	c.(1792-1794)tcC>tcT	p.S598S	ZNF335_ENST00000426788.1_Silent_p.S443S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCTTCTTAAAGGACTTTCCAC	0.617000													16	41					0	0	0.000308642	0	0
HYAL4	23553	broad.mit.edu	37	7	123516965	123516965	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:123516965A>G	ENST00000223026.4	+	5	1840	c.1202A>G	c.(1201-1203)aAc>aGc	p.N401S	HYAL4_ENST00000476325.1_Missense_Mutation_p.N401S	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	401					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CTTCACTTGAACCCTGCAAGT	0.502000													14	71					0	0	0.000566183	0	0
DSCAM	1826	broad.mit.edu	37	21	42080678	42080678	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:42080678G>A	ENST00000400454.1	-	2	540	c.63C>T	c.(61-63)caC>caT	p.H21H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	21					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGAGGCTGGAGTGTAGGTCTT	0.512000													26	50					0	0	0.000586117	0	0
CHD3	1107	broad.mit.edu	37	17	7810332	7810332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:7810332C>T	ENST00000380358.4	+	30	4827	c.4826C>T	c.(4825-4827)cCc>cTc	p.P1609L	CHD3_ENST00000358181.4_Missense_Mutation_p.P1550L|CHD3_ENST00000330494.7_Missense_Mutation_p.P1550L	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1550	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACCAACAGTCCCTGCACCTCT	0.562000													51	174					0	0	0.000781405	0	0
PCNT	5116	broad.mit.edu	37	21	47810612	47810612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:47810612C>T	ENST00000359568.5	+	20	3975	c.3868C>T	c.(3868-3870)Cgt>Tgt	p.R1290C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1290					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AATTCATTCTCGTTTTGAAAA	0.413000													16	42					0	0	0.000422831	0	0
OR4C12	283093	broad.mit.edu	37	11	50003708	50003708	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:50003708G>A	ENST00000335238.4	-	1	363	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGCAGGATGATCTCAGTAG	0.458000													45	36					0	0	0.000781405	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790092	133790092	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:133790092C>T	ENST00000321016.8	-	18	3758	c.3528G>A	c.(3526-3528)cgG>cgA	p.R1176R	IGSF9B_ENST00000533871.2_Silent_p.R1176R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1176	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TAGGCCGGGGCCGGGGCTGGG	0.701000													23	38					0	0	0.000295444	0	0
RHCG	51458	broad.mit.edu	37	15	90021159	90021159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr15:90021159G>A	ENST00000268122.4	-	6	952	c.884C>T	c.(883-885)aCc>aTc	p.T295I	RHCG_ENST00000544600.1_Missense_Mutation_p.T295I	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	295					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CTCAGCAGCGGTACCCACGGC	0.617000													20	7					0	0	0.00121646	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37356868	37356868	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:37356868A>G	ENST00000336755.5	+	9	1341	c.1235A>G	c.(1234-1236)aAg>aGg	p.K412R	ZCCHC7_ENST00000534928.1_Missense_Mutation_p.K122R|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	412							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GAGCCATCCAAGCTACCTTAT	0.403000													13	4					0	0	0.00185496	0	0
MYL9	10398	broad.mit.edu	37	20	35173374	35173374	+	Silent	SNP	C	C	T	rs150788040	by1000genomes	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:35173374C>T	ENST00000279022.2	+	2	191	c.87C>T	c.(85-87)tcC>tcT	p.S29S	MYL9_ENST00000346786.2_Silent_p.S29S|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	29	EF-hand 1.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TTGACCAGTCCCAGATCCAGG	0.552000													20	47					0	0	0.00121646	0	0
PCDH19	57526	broad.mit.edu	37	X	99551284	99551284	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:99551284G>A	ENST00000373034.4	-	6	5113	c.3438C>T	c.(3436-3438)atC>atT	p.I1146I	PCDH19_ENST00000464981.1_5'UTR|PCDH19_ENST00000420881.2_Silent_p.I1098I|PCDH19_ENST00000255531.7_Silent_p.I1099I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1146					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TTTAGAGAACGATATCCTTCA	0.483000													44	84					0	0	0.000680045	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806419	97806419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:97806419C>T	ENST00000358642.2	+	1	403	c.403C>T	c.(403-405)Cca>Tca	p.P135S		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTTGCTTTATCCAGTGATGAT	0.423000													45	132					0	0	0.000781405	0	0
RUVBL2	10856	broad.mit.edu	37	19	49510598	49510598	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:49510598C>T	ENST00000413176.2	+	6	1448	c.300C>T	c.(298-300)atC>atT	p.I100I	RUVBL2_ENST00000595090.1_Silent_p.I145I|RUVBL2_ENST00000601968.1_Silent_p.I100I			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	145					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TGGTGGAGATCCAGATTGATC	0.577000													30	22					0	0	0.000814825	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250914	142250914	+	RNA	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:142250914C>T	ENST00000390360.3	-	0	153																											TGTCTCATATCCTGGGTACAT	0.498000													55	25					0	0	0.000781405	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													4	46					0	0	0.00024832	0	0
C1orf65	164127	broad.mit.edu	37	1	223568027	223568027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:223568027G>A	ENST00000366875.3	+	1	1313	c.1210G>A	c.(1210-1212)Gcc>Acc	p.A404T		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	404										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCTGGTGGAAGCCTGTCGCAA	0.622000													9	14					0	0	0.000442599	0	0
EPHA2	1969	broad.mit.edu	37	1	16464803	16464803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:16464803C>T	ENST00000358432.5	-	4	1100	c.946G>A	c.(946-948)Gca>Aca	p.A316T		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	316	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCCTGAGGTGCCCGGAAGAAG	0.637000													9	2					0	0	0.000442599	0	0
ABCC3	8714	broad.mit.edu	37	17	48741203	48741203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:48741203G>A	ENST00000285238.8	+	9	1240	c.1160G>A	c.(1159-1161)gGt>gAt	p.G387D	ABCC3_ENST00000427699.1_Missense_Mutation_p.G387D	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	387	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGGATCATGGGTGTCATCTAC	0.547000													26	23					0	0	0.000878237	0	0
DSCAM	1826	broad.mit.edu	37	21	41414575	41414575	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:41414575G>A	ENST00000400454.1	-	32	5886	c.5409C>T	c.(5407-5409)tcC>tcT	p.S1803S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1803					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACTTTCTGTGGAGACCATGC	0.537000													13	19					0	0	0.000219431	0	0
KLHDC10	23008	broad.mit.edu	37	7	129736814	129736814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:129736814C>T	ENST00000335420.5	+	2	354	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	74										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TCAGTCCTGTCCCATCATAAG	0.408000													24	93					0	0	0.00127121	0	0
OPRM1	4988	broad.mit.edu	37	6	154412478	154412478	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:154412478C>T	ENST00000414028.2	+	3	1085	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	OPRM1_ENST00000419506.2_Silent_p.F345F|OPRM1_ENST00000229768.5_Silent_p.F345F|OPRM1_ENST00000518759.1_Silent_p.F264F|OPRM1_ENST00000428397.2_Silent_p.F345F|OPRM1_ENST00000337049.4_Silent_p.F345F|OPRM1_ENST00000522236.1_Silent_p.F245F|OPRM1_ENST00000360422.4_Silent_p.F345F|OPRM1_ENST00000522555.1_Silent_p.F245F|OPRM1_ENST00000434900.2_Silent_p.F438F|OPRM1_ENST00000435918.2_Silent_p.F345F|OPRM1_ENST00000330432.7_Silent_p.F345F|OPRM1_ENST00000520708.1_Silent_p.F245F|OPRM1_ENST00000524163.1_Silent_p.F345F|OPRM1_ENST00000452687.2_Silent_p.F345F	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	345					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ATGAAAACTTCAAACGATGCT	0.458000													19	7					0	0	0.000958276	0	0
ZP2	7783	broad.mit.edu	37	16	21213314	21213314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:21213314C>T	ENST00000574002.1	-	13	1800	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	ZP2_ENST00000219593.4_Missense_Mutation_p.E440K|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.E440K			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	440	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GCATGTATTTCGTTTTCATAG	0.393000													18	24					0	0	0.00152264	0	0
TRPM2	7226	broad.mit.edu	37	21	45802643	45802643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:45802643C>T	ENST00000397928.1	+	9	1703	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.R420W|TRPM2_ENST00000300481.9_Missense_Mutation_p.R420W|TRPM2_ENST00000300482.5_Missense_Mutation_p.R420W	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	420						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GACTGTCTTCCGGGAAGGCAA	0.577000													10	20					0	0	0.000673444	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213341253	213341253	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:213341253C>T	ENST00000366960.3	+	7	1038	c.888C>T	c.(886-888)taC>taT	p.Y296Y	RPS6KC1_ENST00000543470.1_Silent_p.Y115Y|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Silent_p.Y284Y	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	296	MIT.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CAGCCGAGTACCTCATGCGGG	0.403000													14	18					0	0	0.000308642	0	0
MXRA5	25878	broad.mit.edu	37	X	3227976	3227976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:3227976C>T	ENST00000217939.6	-	7	8422	c.8268G>A	c.(8266-8268)atG>atA	p.M2756I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2756	Ig-like C2-type 12.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCCCATAGCCATGCAGTTCA	0.567000													51	78					0	0	0.000781405	0	0
EPPK1	83481	broad.mit.edu	37	8	144940456	144940456	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:144940456G>A	ENST00000525985.1	-	2	7037	c.6966C>T	c.(6964-6966)ttC>ttT	p.F2322F				P58107	EPIPL_HUMAN	epiplakin 1	2322						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATGGCCTGGAAGAGGGAGA	0.701000													8	244					0	0	0.000274275	0	0
FMNL3	91010	broad.mit.edu	37	12	50044652	50044652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:50044652G>A	ENST00000335154.5	-	17	2040	c.1807C>T	c.(1807-1809)Ctt>Ttt	p.L603F	FMNL3_ENST00000550488.1_Missense_Mutation_p.L603F|FMNL3_ENST00000352151.5_Missense_Mutation_p.L552F|FMNL3_ENST00000293590.5_Missense_Mutation_p.L603F	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	603	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						AACTTATCAAGATCCAGGTCC	0.512000													34	7					0	0	0.000953801	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635000	122635000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:122635000G>A	ENST00000249284.2	-	1	754	c.689C>T	c.(688-690)gCc>gTc	p.A230V		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	230					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAATAAGACGGCAAGGGACCT	0.433000													21	11					0	0	0.00188189	0	0
OR5L2	26338	broad.mit.edu	37	11	55595541	55595541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:55595541C>T	ENST00000378397.1	+	1	847	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AGTTGTGATTCCCATGCTGAA	0.453000										HNSCC(27;0.073)			8	8					0	0	0.000157383	0	0
PEG3	5178	broad.mit.edu	37	19	57327355	57327355	+	Missense_Mutation	SNP	G	G	A	rs143073381		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:57327355G>A	ENST00000326441.9	-	10	2818	c.2455C>T	c.(2455-2457)Cgt>Tgt	p.R819C	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R693C|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R695C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R819C	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	819					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R819C(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTCCAGCACGAACTCTCTGA	0.458000													10	46					0	0	0.000442599	0	0
CACNA1C	775	broad.mit.edu	37	12	2693745	2693745	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:2693745G>A	ENST00000399655.1	+	16	2566	c.2301G>A	c.(2299-2301)aaG>aaA	p.K767K	CACNA1C_ENST00000399591.1_Silent_p.K767K|CACNA1C_ENST00000399595.1_Silent_p.K767K|CACNA1C_ENST00000406454.3_Silent_p.K767K|CACNA1C_ENST00000399637.1_Silent_p.K767K|CACNA1C_ENST00000399606.1_Silent_p.K767K|CACNA1C_ENST00000399601.1_Silent_p.K767K|CACNA1C_ENST00000399621.1_Silent_p.K767K|CACNA1C_ENST00000402845.3_Silent_p.K767K|CACNA1C_ENST00000399641.1_Silent_p.K767K|CACNA1C_ENST00000327702.7_Silent_p.K767K|CACNA1C_ENST00000399617.1_Silent_p.K767K|CACNA1C_ENST00000399603.1_Silent_p.K767K|CACNA1C_ENST00000399644.1_Silent_p.K767K|CACNA1C_ENST00000344100.3_Silent_p.K767K|CACNA1C_ENST00000347598.4_Silent_p.K767K|CACNA1C_ENST00000399638.1_Silent_p.K767K|CACNA1C_ENST00000399634.1_Silent_p.K767K|CACNA1C_ENST00000399597.1_Silent_p.K767K|CACNA1C_ENST00000480911.1_Silent_p.K767K|CACNA1C_ENST00000399649.1_Silent_p.K767K|CACNA1C_ENST00000399629.1_Silent_p.K767K|CACNA1C_ENST00000335762.5_Silent_p.K792K	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	767					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTGCCCaaaaggaggaggaag	0.517000													31	14					0	0	0.000339439	0	0
TAGAP	117289	broad.mit.edu	37	6	159462447	159462447	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:159462447T>C	ENST00000367066.3	-	6	747	c.416A>G	c.(415-417)aAc>aGc	p.N139S	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000338313.5_Missense_Mutation_p.N139S|TAGAP_ENST00000326965.6_5'UTR|RP1-111C20.4_ENST00000606466.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	139	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ATCCCCAGAGTTGAGCTCCTC	0.537000													17	10					0	0	0.000566183	0	0
KLHL13	90293	broad.mit.edu	37	X	117053493	117053493	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:117053493G>A	ENST00000371876.1	-	3	2829	c.408C>T	c.(406-408)ctC>ctT	p.L136L	KLHL13_ENST00000262820.3_Silent_p.L187L|KLHL13_ENST00000545703.1_Silent_p.L145L|KLHL13_ENST00000541812.1_Silent_p.L171L|KLHL13_ENST00000469946.1_Silent_p.L136L|KLHL13_ENST00000371878.1_Silent_p.L136L|KLHL13_ENST00000371882.1_Silent_p.L136L|KLHL13_ENST00000539496.1_Silent_p.L190L|KLHL13_ENST00000540167.1_Silent_p.L171L			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	187	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCCCAGATATGAGAAACACTT	0.413000													57	80					0	0	0.000781405	0	0
HOXB8	3218	broad.mit.edu	37	17	46691956	46691956	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:46691956G>A	ENST00000239144.4	-	1	345	c.111C>T	c.(109-111)acC>acT	p.T37T	HOXB7_ENST00000567101.1_Intron|HOXB8_ENST00000576562.1_Silent_p.T37T	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	37						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CGTACACCACGGTGGGTCGGC	0.622000													10	4					0	0	0.00136819	0	0
SCMH1	22955	broad.mit.edu	37	1	41540948	41540948	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:41540948G>A	ENST00000402904.2	-	9	1259	c.891C>T	c.(889-891)tcC>tcT	p.S297S	SCMH1_ENST00000361191.5_Silent_p.S236S|SCMH1_ENST00000337495.5_Silent_p.S307S|SCMH1_ENST00000326197.7_Silent_p.S297S|SCMH1_ENST00000372596.1_Silent_p.S236S|SCMH1_ENST00000456518.2_Silent_p.S139S|SCMH1_ENST00000397171.2_Silent_p.S236S|SCMH1_ENST00000397174.2_Silent_p.S277S|SCMH1_ENST00000372595.1_Silent_p.S236S|SCMH1_ENST00000372597.1_Silent_p.S250S|SCMH1_ENST00000361705.3_Silent_p.S250S	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	297					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CAGCTGTCTTGGATGGGGCAG	0.507000													85	27					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179526499	179526499	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:179526499G>A	ENST00000589042.1	-	180	37496	c.37272C>T	c.(37270-37272)gtC>gtT	p.V12424V	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10614							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACAGGTGGGACTTCAGGCT	0.353000													8	6					0	0	0.000978159	0	0
PTRH1	138428	broad.mit.edu	37	9	130476437	130476437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:130476437G>A	ENST00000419060.1	-	6	2043	c.587C>T	c.(586-588)aCc>aTc	p.T196I	C9orf117_ENST00000464092.1_3'UTR|PTRH1_ENST00000423807.1_Missense_Mutation_p.P181S|PTRH1_ENST00000543175.1_Missense_Mutation_p.T196I|C9orf117_ENST00000373293.5_Intron			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	196					translation		aminoacyl-tRNA hydrolase activity|protein binding			NS(1)	1						GATCAGGTCGGTGGCTCGATC	0.662000													8	2					0	0	0.000274275	0	0
KCNV1	27012	broad.mit.edu	37	8	110980573	110980573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:110980573C>T	ENST00000524391.1	-	4	2279	c.1247G>A	c.(1246-1248)gGa>gAa	p.G416E	KCNV1_ENST00000297404.1_Missense_Mutation_p.G416E			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	416						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GACAAGAATTCCCGATAATAT	0.473000													23	92					0	0	0.00047179	0	0
NELL2	4753	broad.mit.edu	37	12	44913970	44913970	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:44913970C>T	ENST00000429094.2	-	19	2722	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	NELL2_ENST00000395487.2_Missense_Mutation_p.E739K|NELL2_ENST00000549027.1_Missense_Mutation_p.E739K|NELL2_ENST00000333837.4_Missense_Mutation_p.E763K|NELL2_ENST00000452445.2_Missense_Mutation_p.E740K|NELL2_ENST00000437801.2_Missense_Mutation_p.E790K|NELL2_ENST00000551601.1_Missense_Mutation_p.E692K	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	740	VWFC 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AATTCACACTCCACATCTGGG	0.557000													10	0					0	0	0.000673444	0	0
KIAA1598	57698	broad.mit.edu	37	10	118711438	118711438	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:118711438G>A	ENST00000355371.4	-	6	1013	c.516C>T	c.(514-516)ctC>ctT	p.L172L	KIAA1598_ENST00000392901.4_Silent_p.L112L|KIAA1598_ENST00000260777.10_Silent_p.L172L|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Silent_p.L172L	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	172					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TTACTTCTACGAGTTTGCTCT	0.348000													16	6					0	0	0.000566183	0	0
HIF3A	64344	broad.mit.edu	37	19	46811951	46811951	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:46811951G>A	ENST00000339613.2	+	5	567	c.312G>A	c.(310-312)acG>acA	p.T104T	HIF3A_ENST00000600383.1_Silent_p.T91T|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000244303.6_Silent_p.T91T|HIF3A_ENST00000420102.2_Silent_p.T109T|HIF3A_ENST00000377670.4_Silent_p.T160T|HIF3A_ENST00000300862.3_Silent_p.T158T|HIF3A_ENST00000472815.1_Silent_p.T91T			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	160	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGGCCCCCACGGAGCGGTGCT	0.711000													8	8					0	0	0.000274275	0	0
MEFV	4210	broad.mit.edu	37	16	3297184	3297184	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:3297184C>T	ENST00000219596.1	-	5	1458	c.1419G>A	c.(1417-1419)ctG>ctA	p.L473L	MEFV_ENST00000339854.4_Silent_p.L293L|MEFV_ENST00000541159.1_Silent_p.L262L|MEFV_ENST00000536379.1_Silent_p.L262L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	473					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CTTGCTGCTCCAGGAAGTAGT	0.577000													40	59					0	0	0.000781405	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912113	101912113	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:101912113T>C	ENST00000537097.1	+	6	4085	c.3272T>C	c.(3271-3273)cTt>cCt	p.L1091P	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.L1091P|GPRASP1_ENST00000361600.5_Missense_Mutation_p.L1091P|GPRASP1_ENST00000415986.1_Missense_Mutation_p.L1091P	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1091	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AACATGGTACTTAGCCCAGAA	0.483000													110	181					0	0	0.000781405	0	0
PMPCB	9512	broad.mit.edu	37	7	102937950	102937950	+	Missense_Mutation	SNP	G	G	A	rs1060201		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:102937950G>A	ENST00000249269.4	+	1	82	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	PMPCB_ENST00000420236.2_5'UTR|PMPCB_ENST00000428154.1_Missense_Mutation_p.R15Q	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	15					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCGCGGCGCGGCGGCGGCTC	0.647000											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	89	34					0	0	0.000781405	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658002	46658002	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr22:46658002C>T	ENST00000253255.5	-	1	1217	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	406	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGGGCCATTTCAGATTGGCCT	0.512000													74	75					0	0	0.000781405	0	0
CATSPERB	79820	broad.mit.edu	37	14	92174546	92174546	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:92174546G>A	ENST00000256343.3	-	6	561	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	135					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GATGTAAAGTGATTCTTACTA	0.308000													15	11					0	0	0.000958276	0	0
RNF152	220441	broad.mit.edu	37	18	59483343	59483343	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:59483343G>A	ENST00000312828.3	-	2	1453	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	118					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GCAGGCGGCAGCCCATGTCTC	0.657000													27	10					0	0	0.00178596	0	0
PKD1L2	114780	broad.mit.edu	37	16	81171071	81171071	+	RNA	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:81171071G>A	ENST00000533478.1	-	0	3745				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGCAGCGGGGCCACAGTATC	0.602000													5	5					0	0	0.00116845	0	0
GRM8	2918	broad.mit.edu	37	7	126883108	126883108	+	Missense_Mutation	SNP	G	G	A	rs149971619		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:126883108G>A	ENST00000339582.2	-	2	959	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	GRM8_ENST00000444921.2_Missense_Mutation_p.L51F|GRM8_ENST00000358373.3_Missense_Mutation_p.L51F|GRM8_ENST00000405249.1_Missense_Mutation_p.L51F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	51					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACAGGGAAGAGACCCCCCAAA	0.522000										HNSCC(24;0.065)			11	50					0	0	0.000978159	0	0
FAT4	79633	broad.mit.edu	37	4	126240396	126240396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:126240396G>A	ENST00000394329.3	+	1	2843	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	944	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCTATCAATGAAAAGAATGG	0.483000													40	24					0	0	0.00111076	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746445	77746445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:77746445C>T	ENST00000409088.3	-	3	964	c.550G>A	c.(550-552)Gat>Aat	p.D184N	LRRTM4_ENST00000409093.1_Missense_Mutation_p.D184N|LRRTM4_ENST00000409884.1_Missense_Mutation_p.D184N|LRRTM4_ENST00000409282.1_Missense_Mutation_p.D185N|LRRTM4_ENST00000409911.1_Missense_Mutation_p.D185N	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	184						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCCAAAAAATCAAGATTCCGA	0.418000													6	4					0	0	0.000157383	0	0
LPHN1	22859	broad.mit.edu	37	19	14271494	14271494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:14271494G>A	ENST00000340736.6	-	8	1837	c.1540C>T	c.(1540-1542)Cag>Tag	p.Q514*	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Nonsense_Mutation_p.Q509*	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	514					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTAGACACTGGAAGGAGGCA	0.602000													14	18					0	0	0.000308642	0	0
OTOF	9381	broad.mit.edu	37	2	26712547	26712547	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:26712547G>A	ENST00000272371.2	-	10	1085	c.960_splice	c.e10+1	p.S320_splice	OTOF_ENST00000403946.3_Splice_Site_p.S320_splice	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	320	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCACTCACCGAAATCTTGAT	0.567000													28	7					0	0	0.000339439	0	0
DGKI	9162	broad.mit.edu	37	7	137150748	137150748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:137150748C>T	ENST00000453654.1	-	27	2211	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	DGKI_ENST00000288490.5_Missense_Mutation_p.D848N|DGKI_ENST00000424189.2_Missense_Mutation_p.D861N|DGKI_ENST00000446122.1_Missense_Mutation_p.D830N			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	848					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AAAATCTCATCTTGGGAAATC	0.473000													14	99					0	0	0.00074312	0	0
ZNF275	10838	broad.mit.edu	37	X	152612965	152612965	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:152612965C>T	ENST00000421401.3	+	4	999	c.822C>T	c.(820-822)ttC>ttT	p.F274F	ZNF275_ENST00000370251.2_Silent_p.F274F|ZNF275_ENST00000440091.1_Silent_p.F304F|ZNF275_ENST00000370249.2_Silent_p.F221F	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	274						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGTCCTTCCGAGGGGTCA	0.652000													19	26					0	0	0.00188189	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213341254	213341254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:213341254C>T	ENST00000366960.3	+	7	1039	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L116F|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L285F	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	297	MIT.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGCCGAGTACCTCATGCGGGC	0.403000													14	18					0	0	0.000308642	0	0
DNAH8	1769	broad.mit.edu	37	6	38828393	38828393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:38828393C>T	ENST00000359357.3	+	41	5722	c.5468C>T	c.(5467-5469)cCa>cTa	p.P1823L	DNAH8_ENST00000449981.2_Missense_Mutation_p.P2040L|DNAH8_ENST00000441566.1_Missense_Mutation_p.P1823L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTTATCACTCCATTAACAGAT	0.284000													11	74					0	0	0.00136819	0	0
AGTR2	186	broad.mit.edu	37	X	115303711	115303711	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:115303711C>T	ENST00000371906.4	+	3	368	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	60					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						AATTGGATTTCTGGTCAATAT	0.363000													14	23					0	0	0.00185496	0	0
TUBBP1	92755	broad.mit.edu	37	8	30209743	30209743	+	RNA	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:30209743G>A	ENST00000518096.1	+	0	355																											TGGGACCATGGACTCTGTTCG	0.522000													31	85					0	0	0.000692331	0	0
PIGO	84720	broad.mit.edu	37	9	35091877	35091877	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:35091877C>A	ENST00000378617.3	-	7	2401	c.2007G>T	c.(2005-2007)tgG>tgT	p.W669C	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.W669C|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	669					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAGCTCCATACCACAAATTCT	0.587000													23	5					0.000295444	0.00243569	0.000295444	1	0
SPOCK1	6695	broad.mit.edu	37	5	136324265	136324265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:136324265C>T	ENST00000394945.1	-	8	943	c.774G>A	c.(772-774)atG>atA	p.M258I	SPOCK1_ENST00000282223.7_Missense_Mutation_p.M258I|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	258					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTCATAGTTCATGTCCAACT	0.498000													11	39					0	0	0.000673444	0	0
CSE1L	1434	broad.mit.edu	37	20	47695115	47695115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:47695115C>T	ENST00000262982.2	+	14	1561	c.1438C>T	c.(1438-1440)Ctt>Ttt	p.L480F	CSE1L_ENST00000542325.1_Missense_Mutation_p.L263F|CSE1L_ENST00000396192.3_Missense_Mutation_p.L424F	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	480					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ATTTCCTGTCCTTAAAGCTGA	0.289000													45	70					0	0	0.000781405	0	0
SLC26A3	1811	broad.mit.edu	37	7	107415259	107415259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:107415259C>T	ENST00000340010.5	-	16	1920	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R544Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	579	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CTGCAGTTTTCGGATTTTCCT	0.408000													36	14					0	0	0.00111076	0	0
EPB42	2038	broad.mit.edu	37	15	43494124	43494124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr15:43494124G>A	ENST00000300215.3	-	12	2378	c.1921C>T	c.(1921-1923)Cag>Tag	p.Q641*	EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000441366.2_Nonsense_Mutation_p.Q611*|EPB42_ENST00000540029.1_Nonsense_Mutation_p.Q533*			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	611					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	p.Q641*(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AGGGAGTTCTGGAGGCTGACT	0.562000													58	14					0	0	0.000781405	0	0
TDP2	51567	broad.mit.edu	37	6	24653343	24653343	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:24653343G>A	ENST00000341060.3	-	5	896	c.501C>T	c.(499-501)tcC>tcT	p.S167S	TDP2_ENST00000378198.4_Silent_p.S225S|TDP2_ENST00000545995.1_Silent_p.S255S			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	225					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TCTCCAAATGGGATGTCATAA	0.403000								Direct reversal of damage					63	338					0	0	0.000781405	0	0
POLQ	10721	broad.mit.edu	37	3	121251895	121251895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:121251895G>A	ENST00000264233.5	-	6	1030	c.902C>T	c.(901-903)tCc>tTc	p.S301F	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	301					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTCATATATGGAATTTCCAAC	0.398000								DNA polymerases (catalytic subunits)					13	47					0	0	0.000308642	0	0
KIAA0232	9778	broad.mit.edu	37	4	6864330	6864330	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:6864330G>T	ENST00000307659.5	+	7	2676	c.2221G>T	c.(2221-2223)Gat>Tat	p.D741Y	KIAA0232_ENST00000425103.1_Missense_Mutation_p.D741Y	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	741							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TAATGCCGAAGATATTAATTA	0.338000													6	25					5.9392e-07	4.9078e-06	0.00116845	1	0
TGM7	116179	broad.mit.edu	37	15	43577045	43577045	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr15:43577045T>G	ENST00000452443.2	-	7	975	c.971A>C	c.(970-972)gAg>gCg	p.E324A		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	324					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TGACAGCATCTCGGCATTTCG	0.483000													90	29					0	0	0.000781405	0	0
JAM2	58494	broad.mit.edu	37	21	27071055	27071055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr21:27071055G>A	ENST00000480456.1	+	5	1011	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	JAM2_ENST00000312957.5_Missense_Mutation_p.R154Q|JAM2_ENST00000425221.2_Missense_Mutation_p.R118Q|JAM2_ENST00000400532.1_Missense_Mutation_p.R154Q	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	154	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GTAGAGCTACGATGTCAAGAC	0.448000													13	16					0	0	0.000308642	0	0
TMC5	79838	broad.mit.edu	37	16	19492699	19492699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:19492699G>A	ENST00000396229.2	+	15	3024	c.2275G>A	c.(2275-2277)Ggg>Agg	p.G759R	TMC5_ENST00000541464.1_Missense_Mutation_p.G707R|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000219821.5_Missense_Mutation_p.G513R|TMC5_ENST00000381414.4_Missense_Mutation_p.G759R|TMC5_ENST00000561503.1_Missense_Mutation_p.G400R|TMC5_ENST00000542583.2_Missense_Mutation_p.G759R|TMC5_ENST00000564959.1_Missense_Mutation_p.G442R	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	759						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGAATCATTGGGATGCAACT	0.438000													17	28					0	0	0.000958276	0	0
PROS1	5627	broad.mit.edu	37	3	93611809	93611809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:93611809C>T	ENST00000394236.3	-	10	1439	c.1123G>A	c.(1123-1125)Ggt>Agt	p.G375S	PROS1_ENST00000407433.1_Missense_Mutation_p.G244S	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	375	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ATAACATCACCTCCAGTTGTG	0.358000													18	25					0	0	0.000295444	0	0
ACTA2	59	broad.mit.edu	37	10	90697976	90697976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:90697976C>T	ENST00000458208.1	-	8	1306	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	ACTA2_ENST00000224784.6_Missense_Mutation_p.E278K|STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000437930.3_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	278					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TAGGTGGTTTCATGGATGCCA	0.483000													20	9					0	0	0.000295444	0	0
SLC9A6	10479	broad.mit.edu	37	X	135106572	135106572	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:135106572C>T	ENST00000370695.4	+	12	1581	c.1546C>T	c.(1546-1548)Ctg>Ttg	p.L516L	SLC9A6_ENST00000370701.1_Silent_p.L464L|SLC9A6_ENST00000370698.3_Silent_p.L484L	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	484					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCACGCTTCTGATTGTGTT	0.468000													24	65					0	0	0.000720815	0	0
FOXD4	2298	broad.mit.edu	37	9	117497	117497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:117497C>T	ENST00000382500.2	-	1	920	c.623G>A	c.(622-624)gGa>gAa	p.G208E		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	208	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CAGGTGGGCTCCCGGGGTCGG	0.697000													52	40					0	0	0.000781405	0	0
SLC22A23	63027	broad.mit.edu	37	6	3287256	3287256	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:3287256G>A	ENST00000436008.2	-	7	1845	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L	PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000406686.3_Silent_p.L461L|SLC22A23_ENST00000380302.4_Silent_p.L180L|SLC22A23_ENST00000490273.1_Silent_p.L180L			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	461					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				AGTTCTCCAGGAGCGGCACCT	0.632000													13	46					0	0	0.000422831	0	0
LMBRD2	92255	broad.mit.edu	37	5	36116632	36116632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:36116632G>A	ENST00000296603.4	-	11	1828	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	456						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAAATACACGAATCCTGAAC	0.348000													15	39					0	0	0.000566183	0	0
TXNDC15	79770	broad.mit.edu	37	5	134223431	134223431	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:134223431C>T	ENST00000358387.4	+	2	775	c.150C>T	c.(148-150)caC>caT	p.H50H	TXNDC15_ENST00000546290.1_Silent_p.H27H	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	50					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCCTGCTCACCCTCTCCAGG	0.562000													7	40					0	0	0.000157383	0	0
RAD9A	5883	broad.mit.edu	37	11	67163818	67163818	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:67163818G>A	ENST00000307980.2	+	9	912	c.819G>A	c.(817-819)caG>caA	p.Q273Q	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	273	Sufficient for interaction with ABL1.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CGCACTCCCAGGACCTGGGCT	0.637000								Other conserved DNA damage response genes					62	65					0	0	0.000781405	0	0
ZNF425	155054	broad.mit.edu	37	7	148801551	148801551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:148801551G>A	ENST00000378061.2	-	4	1544	c.1412C>T	c.(1411-1413)cCc>cTc	p.P471L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	471					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTCGGCGCAGGGGAAGGGCTT	0.667000													18	81					0	0	0.00074312	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421366	134421366	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:134421366G>A	ENST00000370766.3	-	7	3945	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	ZNF75D_ENST00000370764.1_Silent_p.F317F|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	412					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GATGGGTCATGAAGTGCTTAT	0.378000													36	60					0	0	0.000437636	0	0
CFAP54	144535	broad.mit.edu	37	12	97051808	97051808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr12:97051808C>T	ENST00000524981.3	+	4	602	c.602C>T	c.(601-603)tCt>tTt	p.S201F				Q6ZTY8	CL063_HUMAN		175										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GTATTAAAATCTCTGGAAGTT	0.353000													41	21					0	0	0.000437636	0	0
PRSS21	10942	broad.mit.edu	37	16	2871404	2871404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr16:2871404G>A	ENST00000455114.1	+	6	843	c.737G>A	c.(736-738)gGa>gAa	p.G246E	PRSS21_ENST00000005995.3_Missense_Mutation_p.G248E|PRSS21_ENST00000450020.3_Missense_Mutation_p.G234E|PRSS21_ENST00000575739.1_Intron	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	248	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						AACAAGAATGGACTGTGGTAT	0.617000													8	18					0	0	0.000157383	0	0
SLC27A4	10999	broad.mit.edu	37	9	131115808	131115808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:131115808C>T	ENST00000300456.3	+	9	1429	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	438					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CGTCTGCATTCCCTGCCAGCC	0.627000													38	9					0	0	0.00170553	0	0
FOXH1	8928	broad.mit.edu	37	8	145699638	145699638	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr8:145699638A>T	ENST00000377317.4	-	3	1659	c.1081T>A	c.(1081-1083)Tcc>Acc	p.S361T		NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	361					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTGCACCAGGAGAGCAGCCAG	0.662000													9	17					0	0	0.000442599	0	0
PRKG2	5593	broad.mit.edu	37	4	82125774	82125774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:82125774G>A	ENST00000395578.1	-	2	544	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PRKG2_ENST00000264399.1_Missense_Mutation_p.S143F|PRKG2_ENST00000418486.2_Missense_Mutation_p.S143F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	143					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCTCAAAGGAAAATTCAGG	0.453000													43	66					0	0	0.000781405	0	0
SPTLC2	9517	broad.mit.edu	37	14	77987881	77987881	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:77987881G>A	ENST00000216484.2	-	10	1540	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	449				KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5).		integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGCGTCTCCTGAAATACCTGG	0.408000													14	8					0	0	0.000219431	0	0
BCL9L	283149	broad.mit.edu	37	11	118769362	118769362	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:118769362A>G	ENST00000334801.3	-	8	5226	c.4262T>C	c.(4261-4263)aTg>aCg	p.M1421T	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1421					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGAGGGGACATGACCCCCTG	0.642000													19	18					0	0	0.00188189	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764262	109764262	+	RNA	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:109764262C>T	ENST00000602699.1	+	0	723					NR_002718.2																						TTGCCATTTTCGCTTTAGGAG	0.448000													15	18					0	0	0.000422831	0	0
NLRP11	204801	broad.mit.edu	37	19	56321567	56321567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:56321567C>T	ENST00000443188.1	-	5	1119	c.409G>A	c.(409-411)Gat>Aat	p.D137N	NLRP11_ENST00000360133.3_Missense_Mutation_p.D137N|NLRP11_ENST00000589824.2_Missense_Mutation_p.D137N|NLRP11_ENST00000589093.1_Missense_Mutation_p.D137N|NLRP11_ENST00000592953.1_Missense_Mutation_p.D38N	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	137							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTGGTAGAATCATAGGCTAAT	0.363000													8	16					0	0	0.000442599	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30688467	30688467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr22:30688467G>A	ENST00000215790.7	-	9	1588	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	TBC1D10A_ENST00000403477.3_Missense_Mutation_p.A482V|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.A387V	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	475						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GTCCTTGGGGGCTGAGTCCTT	0.632000													76	57					0	0	0.000781405	0	0
ZBED1	9189	broad.mit.edu	37	X	2406968	2406968	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:2406968A>G	ENST00000381223.4	-	2	1996	c.1793T>C	c.(1792-1794)tTc>tCc	p.F598S	ZBED1_ENST00000381218.3_Missense_Mutation_p.F598S|RP11-325D5.3_ENST00000515319.1_RNA|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.F598S	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	598						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGCAGGGGGAAGAGGGCCAG	0.652000													66	115					0	0	0.000781405	0	0
AGPAT1	10554	broad.mit.edu	37	6	32137188	32137188	+	Silent	SNP	C	C	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:32137188C>A	ENST00000395499.1	-	7	1296	c.717G>T	c.(715-717)acG>acT	p.T239T	AGPAT1_ENST00000336984.6_Silent_p.T239T|AGPAT1_ENST00000375104.2_Silent_p.T239T|AGPAT1_ENST00000395496.1_Silent_p.T239T|AGPAT1_ENST00000395497.1_Silent_p.T239T|AGPAT1_ENST00000375107.3_Silent_p.T239T|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000412465.2_Silent_p.T127T|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	239					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.T239T(1)		central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						TCAGCCCTTCCGTGGGCACTG	0.637000													11	769					0.000673444	0.00552629	0.000673444	1	0
C2CD2L	9854	broad.mit.edu	37	11	118981290	118981290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:118981290C>T	ENST00000336702.3	+	3	829	c.470C>T	c.(469-471)tCt>tTt	p.S157F		NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	157						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TGCCAGCTCTCTGCTGAGGAG	0.612000													8	8					0	0	0.000274275	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645996	51645996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:51645996C>T	ENST00000317643.6	+	1	439	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	SIGLEC7_ENST00000600577.1_Missense_Mutation_p.R124C|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.R124C	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	124					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.R124C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ATACTTCTTTCGTATGGAGAA	0.478000													27	59					0	0	0.000878237	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529150	5529150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:5529150G>A	ENST00000311659.4	-	2	1786	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	547										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTAGGCAAGGCATGAACCAG	0.567000													14	22					0	0	0.000219431	0	0
TOB2	10766	broad.mit.edu	37	22	41833051	41833051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr22:41833051G>A	ENST00000327492.3	-	2	1005	c.299C>T	c.(298-300)tCc>tTc	p.S100F		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	100					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						AATCTGGTAGGACACCTCAAA	0.587000													34	31					0	0	0.000814825	0	0
PROKR2	128674	broad.mit.edu	37	20	5283124	5283124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:5283124C>T	ENST00000546004.1	-	3	963	c.717G>A	c.(715-717)atG>atA	p.M239I	PROKR2_ENST00000217270.3_Missense_Mutation_p.M239I			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	239						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGCACAGGGTCATGGTGACCA	0.582000										HNSCC(71;0.22)			40	36					0	0	0.00148497	0	0
DSG1	1828	broad.mit.edu	37	18	28926126	28926126	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr18:28926126C>T	ENST00000257192.4	+	14	2277	c.2065C>T	c.(2065-2067)Ctg>Ttg	p.L689L	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_Silent_p.L48L	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	689					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGAAGGAGGTCTGAATATGAA	0.428000													12	4					0	0	0.000219431	0	0
SNHG14	104472715	broad.mit.edu	37	15	25470404	25470404	+	RNA	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr15:25470404C>T	ENST00000453082.2	+	0	1061				SNORD115-30_ENST00000364117.1_RNA	NR_003343.1																						ATTTAAAAATCATGCTCAATA	0.498000													132	53					0	0	0.000781405	0	0
FUT5	2527	broad.mit.edu	37	19	5867302	5867302	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:5867302C>T	ENST00000252675.5	-	5	997	c.435G>A	c.(433-435)tgG>tgA	p.W145*	FUT5_ENST00000588525.1_Nonsense_Mutation_p.W145*			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	145					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TGAACCAGATCCAGCGCTGCC	0.622000													23	17					0	0	0.000586117	0	0
GON4L	54856	broad.mit.edu	37	1	155735878	155735878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:155735878G>A	ENST00000437809.1	-	21	3508	c.3386C>T	c.(3385-3387)cCc>cTc	p.P1129L	GON4L_ENST00000368331.1_Missense_Mutation_p.P1129L|GON4L_ENST00000361040.5_Missense_Mutation_p.P1129L|GON4L_ENST00000271883.5_Missense_Mutation_p.P1129L|GON4L_ENST00000471341.1_5'UTR			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1129					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTCATACAGGGAGAGGCCTT	0.527000													11	66					0	0	0.00185496	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145969654	145969654	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:145969654C>T	ENST00000394413.3	-	9	1758	c.1188G>A	c.(1186-1188)ggG>ggA	p.G396G	CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Silent_p.G396G|PPP2R2B_ENST00000453001.1_Silent_p.G396G|PPP2R2B_ENST00000508545.2_Silent_p.G385G|PPP2R2B_ENST00000394414.1_Silent_p.G462G|PPP2R2B_ENST00000394409.3_Silent_p.G454G|PPP2R2B_ENST00000504198.1_Silent_p.G402G|PPP2R2B_ENST00000394411.4_Silent_p.G396G|PPP2R2B_ENST00000336640.6_Silent_p.G399G|PPP2R2B_ENST00000394410.2_Silent_p.G385G			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	396					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.G454G(1)|p.G399G(1)|p.G396G(1)|p.G385G(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGCTTGCCCCCCACACACA	0.498000													43	29					0	0	0.000680045	0	0
OR10X1	128367	broad.mit.edu	37	1	158549379	158549379	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:158549379T>C	ENST00000368150.1	-	1	310	c.311A>G	c.(310-312)aAg>aGg	p.K104R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GCTTCTGTCCTTGGCCAGTAG	0.478000													13	9					0	0	0.00185496	0	0
SLC4A10	57282	broad.mit.edu	37	2	162813650	162813650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr2:162813650G>A	ENST00000375514.5	+	20	2923	c.2636G>A	c.(2635-2637)gGa>gAa	p.G879E	SLC4A10_ENST00000446997.1_Missense_Mutation_p.G898E|SLC4A10_ENST00000421911.1_Missense_Mutation_p.G898E|SLC4A10_ENST00000415876.2_Missense_Mutation_p.G868E|SLC4A10_ENST00000272716.5_Missense_Mutation_p.G868E	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	898					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCAGCTCCAGGAGAACAACCC	0.458000													4	0					0	0	0.00116845	0	0
PROKR2	128674	broad.mit.edu	37	20	5282770	5282770	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr20:5282770C>T	ENST00000546004.1	-	3	1317	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R	PROKR2_ENST00000217270.3_Silent_p.R357R			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	357						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ACTTGCTCCCCCGCTGGGAGG	0.557000										HNSCC(71;0.22)			36	34					0	0	0.000491102	0	0
PGRMC1	10857	broad.mit.edu	37	X	118370369	118370369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:118370369G>A	ENST00000217971.7	+	1	154	c.43G>A	c.(43-45)Gat>Aat	p.D15N	PGRMC1_ENST00000535419.1_Missense_Mutation_p.D15N	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	15						cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						CGACCCAAGCGATCTGGAGAG	0.617000													27	36					0	0	0.000339439	0	0
FHL3	2275	broad.mit.edu	37	1	38463446	38463446	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:38463446A>G	ENST00000373016.3	-	5	766	c.598T>C	c.(598-600)Ttc>Ctc	p.F200L	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	200	LIM zinc-binding 3.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGGGAGGTGAACTGCTGCCCT	0.582000													30	13					0	0	0.00178596	0	0
NOS3	4846	broad.mit.edu	37	7	150697640	150697640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:150697640G>A	ENST00000297494.3	+	10	1543	c.1186G>A	c.(1186-1188)Gac>Aac	p.D396N	NOS3_ENST00000461406.1_Missense_Mutation_p.D190N|NOS3_ENST00000484524.1_Missense_Mutation_p.D396N|NOS3_ENST00000467517.1_Missense_Mutation_p.D396N	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	396	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCTGTGGAAAGACAAGGCAGC	0.602000													8	58					0	0	0.000274275	0	0
CD47	961	broad.mit.edu	37	3	107779599	107779599	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr3:107779599G>A	ENST00000355354.7	-	4	707	c.591C>T	c.(589-591)ttC>ttT	p.F197F	CD47_ENST00000361309.5_Silent_p.F197F	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	CD47 molecule	197					blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			TACCTGGGACGAAAAGAATGG	0.458000													7	16					0	0	0.000157383	0	0
UNC5A	90249	broad.mit.edu	37	5	176301536	176301536	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr5:176301536C>T	ENST00000329542.4	+	8	1621	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	UNC5A_ENST00000261961.3_Silent_p.F409F	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	449	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTTCAACTTCCTCGGGGGCC	0.632000													50	49					0	0	0.000781405	0	0
GDA	9615	broad.mit.edu	37	9	74828861	74828861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr9:74828861C>T	ENST00000358399.3	+	5	625	c.532C>T	c.(532-534)Cca>Tca	p.P178S	GDA_ENST00000376986.1_Missense_Mutation_p.P136S|GDA_ENST00000376989.3_Missense_Mutation_p.P153S|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.P178S|GDA_ENST00000545168.1_Missense_Mutation_p.P104S	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	178					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TGACACTTTTCCAGAATACAA	0.398000													24	10					0	0	0.00178596	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146119	31146119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:31146119G>A	ENST00000304166.4	+	16	1517	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.E389K|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.E466K|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.E438K	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	410					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGTACAAGCGGAGATCAAGCG	0.617000													36	21					0	0	0.00148497	0	0
ZFP42	132625	broad.mit.edu	37	4	188924639	188924639	+	Silent	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:188924639C>T	ENST00000326866.4	+	4	1086	c.678C>T	c.(676-678)ttC>ttT	p.F226F	ZFP42_ENST00000509524.1_Silent_p.F226F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	226					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGAAAGCGTTCGTTGAGAGCT	0.507000													25	63					0	0	0.00106085	0	0
MYH13	8735	broad.mit.edu	37	17	10219099	10219099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:10219099C>T	ENST00000418404.3	-	28	4058	c.3895G>A	c.(3895-3897)Gag>Aag	p.E1299K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1299K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1299K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1299					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATCAGAGACTCCTTCTCTTCC	0.547000													21	27					0	0	0.00121646	0	0
OR4K5	79317	broad.mit.edu	37	14	20389203	20389203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:20389203G>A	ENST00000315915.4	+	1	463	c.438G>A	c.(436-438)atG>atA	p.M146I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTGGTAATGATCTCCTGGG	0.438000													32	10					0	0	0.00178596	0	0
STYX	6815	broad.mit.edu	37	14	53223298	53223298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr14:53223298C>T	ENST00000354586.4	+	5	565	c.272C>T	c.(271-273)cCa>cTa	p.P91L	STYX_ENST00000556861.1_Intron|STYX_ENST00000442123.2_Missense_Mutation_p.P91L	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	91					protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					GCAGATAATCCAGTTGAAAAT	0.254000													32	11					0	0	0.000953801	0	0
GABRA4	2557	broad.mit.edu	37	4	46976321	46976321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr4:46976321C>T	ENST00000264318.3	-	6	1631	c.649G>A	c.(649-651)Gag>Aag	p.E217K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	217					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGGAAGACTCCTTCGGAACT	0.403000													5	0					0	0	0.000602214	0	0
MAP7D3	79649	broad.mit.edu	37	X	135313883	135313883	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:135313883C>G	ENST00000316077.9	-	8	1453	c.1233G>C	c.(1231-1233)gaG>gaC	p.E411D	MAP7D3_ENST00000370663.5_Missense_Mutation_p.E393D|MAP7D3_ENST00000370661.1_Missense_Mutation_p.E376D	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	411						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CCAGGCTCCCCTCTGGGGCTG	0.627000													23	92					0	0	0.000586117	0	0
MCF2	4168	broad.mit.edu	37	X	138668615	138668615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:138668615C>T	ENST00000520602.1	-	26	3019	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	MCF2_ENST00000338585.6_Missense_Mutation_p.E868K|MCF2_ENST00000370576.4_Missense_Mutation_p.E852K|MCF2_ENST00000414978.1_Missense_Mutation_p.E912K|MCF2_ENST00000370573.4_Intron|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000370578.4_Missense_Mutation_p.E997K|MCF2_ENST00000519895.1_Missense_Mutation_p.E928K			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	852					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AATTCAGTTTCCTCAGTACTT	0.388000													3	5					0	0	0.00024832	0	0
MRC2	9902	broad.mit.edu	37	17	60767563	60767563	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:60767563G>A	ENST00000303375.5	+	26	4191	c.3789G>A	c.(3787-3789)caG>caA	p.Q1263Q	MRC2_ENST00000446119.2_Silent_p.Q129Q	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1263					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCTGTCCCCAGGGACTGGCAG	0.637000													18	8					0	0	0.00074312	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717103	142717103	+	Silent	SNP	G	G	T			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:142717103G>T	ENST00000381779.4	-	2	2047	c.1822C>A	c.(1822-1824)Cga>Aga	p.R608R	SLITRK4_ENST00000338017.4_Silent_p.R608R|SLITRK4_ENST00000356928.1_Silent_p.R608R	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	608						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGACTTCGAATGGGACCC	0.423000													42	71					1.62957e-23	1.35289e-22	0.00195071	1	0
GPR158	57512	broad.mit.edu	37	10	25886796	25886796	+	Silent	SNP	G	G	A			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr10:25886796G>A	ENST00000376351.3	+	11	2600	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	747						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGTGCTCGAAGAAGGGCCTAG	0.512000													13	4					0	0	0.000422831	0	0
FLG	2312	broad.mit.edu	37	1	152282785	152282785	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr1:152282785delC	ENST00000368799.1	-	3	4612	c.4577delG	c.(4576-4578)gafs	p.G1526fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1526	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCAGACCTTCCCTGGGGTGT	0.572									Ichthyosis				287	98	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)agfs	p.K1138fs	TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													7	1169	---	---	---	---					
C6orf223	221416	broad.mit.edu	37	6	43970504	43970509	+	In_Frame_Del	DEL	GCGGCG	GCGGCG	-	rs72369323		TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr6:43970504_43970509delGCGGCG	ENST00000336600.5	+	4	390_395	c.370_375delGCGGCG	c.(370-375)del	p.AA130del	RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_3'UTR|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	130	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GGTAGAGCGCgcggcggcggcggcgg	0.772													5	7	---	---	---	---					
POM121	9883	broad.mit.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	-	CTC	rs67569765	byFrequency	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr7:72413723_72413724insCTC	ENST00000395270.1	+	14	3437_3438	c.2396_2397insCTC	c.(2395-2397)ttt>tCTCtt	p.799_799F>SL	POM121_ENST00000358357.3_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000446813.1_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000257622.4_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000434423.2_In_Frame_Ins_p.1064_1064F>SL	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1064	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663													13	95	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)del	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													8	53	---	---	---	---					
KRTAP9-1	728318	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr17:39346425_39346427delGTG	ENST00000398470.1	+	1	287_289	c.287_289delGTG	c.(286-291)tgc>t	p.CG96del	KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	96	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606													4	9	---	---	---	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctt>ct	p.LL23del		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													7	145	---	---	---	---					
RAI2	10742	broad.mit.edu	37	X	17818550	17818550	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:17818550delA	ENST00000545871.1	-	3	2041	c.1581delT	c.(1579-1581)ttfs	p.F527fs	RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	527					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTTTCTTGGAAAAAAGGTGG	0.333													8	1083	---	---	---	---					
BRCC3	79184	broad.mit.edu	37	X	154344998	154344998	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MK-06A-11D-A196-08	TCGA-EE-A2MK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0ad57ac-586d-456a-a71e-6b4b9e0a885f	8b4304b3-7a86-4439-9afa-33d978b6d336	g.chrX:154344998delG	ENST00000369462.1	+	10	793	c.768delG	c.(766-768)ctfs	p.L256fs	BRCC3_ENST00000399042.1_Frame_Shift_Del_p.L256fs|BRCC3_ENST00000369459.2_Frame_Shift_Del_p.L187fs|BRCC3_ENST00000340647.4_Frame_Shift_Del_p.L232fs|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Frame_Shift_Del_p.L231fs	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	256					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTACACATCTGGACTCAGTAA	0.398													2	4	---	---	---	---