Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
C11orf86_chr11_66970304_66982009	66975627	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01358.hp2 HG01433.hp2 others(8): Show HG00642.hp2 HG01358.hp2 HG01433.hp2 HG02523.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG03098.hp1 HG04204.hp2 NA18961.hp2 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0001 a0002c0002t0001g0002	11	326	0.0337	1	c.267 others(4): Show c.267dupG	p.Tyr others(4): Show p.Tyr90fs	C11orf86	ENSG00000173237.5	transcript	ENST00000683896.1	protein_coding	1/2	327/1168	268/351	90/116	INFO_REALIGN_3_PRIME	chr11	TogoVar
C12orf42_chr12_103296955_103500968	103478395	TCCCTTTG others(71): Show TCCCTTTGTTTCATACATATCACTGTAGACATTAATTTGACAAGTTCAAC TCCCTATAAACAAAGAATGGAGAAAGAAG	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG03490.hp1 HG03490.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0008 a0011c0008t0008	a0011c0008t0008g0100 a0011c0008t0008g0100	1	260	0.0038	-78	c.-21 others(87): Show c.-21-26_31delCTTCTTTCTCCATTCTTTGTTTATAGGGAGTTGAAC TTGTCAAATTAATGTCTACAGTGATATGTATGAAACAAAGGG	p.Met others(3): Show p.Met1fs	C12orf42	ENSG00000179088.16	transcript	ENST00000548883.6	protein_coding	2/6	119/1324	1/1083	1/360		chr12	TogoVar
C12orf60_chr12_14798670_14829415	14823061	TACTCAAA others(21): Show TACTCAAATCCTTTTGATGGCTGTGAAAA	T T	frameshift_variant frameshift_variant	HIGH	HG02965.hp2 HG02965.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0001 a0005c0006t0001g0001	1	386	0.0026	-28	c.129 others(35): Show c.129_156delTCAAATCCTTTTGATGGCTGTGAAAAAC	p.Gln others(4): Show p.Gln44fs	C12orf60	ENSG00000182993.5	transcript	ENST00000330828.3	protein_coding	2/2	235/1586	129/738	43/245	INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf60_chr12_14798670_14829415	14823483	CTA CTA	C C	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00609.hp1 others(65): Show HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01081.hp1 HG01109.hp1 HG01257.hp1 HG01891.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18962.hp2 NA18968.hp1 NA18979.hp2 NA18989.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19062.hp2 NA19063.hp1 NA19068.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0012 others(9): Show a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0018 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066	68	386	0.1762	-2	c.550 others(9): Show c.550_551delAT	p.Met others(5): Show p.Met184fs	C12orf60	ENSG00000182993.5	transcript	ENST00000330828.3	protein_coding	2/2	656/1586	550/738	184/245	INFO_REALIGN_3_PRIME	chr12	TogoVar
C16orf54_chr16_29737463_29750990	29744641	GTCAGCAG others(12): Show GTCAGCAGGGGGACCGCAGA	G G	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0024 a0003c0004t0024	a0003c0004t0024g0027 a0003c0004t0024g0027	1	308	0.0032	-19	c.292 others(26): Show c.292_310delTCTGCGGTCCCCCTGCTGA	p.Ser others(4): Show p.Ser98fs	C16orf54	ENSG00000185905.4	transcript	ENST00000329410.4	protein_coding	2/2	390/2569	292/675	98/224		chr16	TogoVar
C16orf96_chr16_4551340_4605758	4575703	GGGACTTA others(10): Show GGGACTTAGGTGTCCTGC	G G	frameshift_variant frameshift_variant	HIGH	NA18981.hp1 NA18981.hp1	a0032 a0032	a0032c0040 a0032c0040	a0032c0040t0003 a0032c0040t0003	a0032c0040t0003g0022 a0032c0040t0003g0022	1	276	0.0036	-17	c.122 others(26): Show c.1226_1242delACTTAGGTGTCCTGCGG	p.Asp others(5): Show p.Asp409fs	C16orf96	ENSG00000205832.8	transcript	ENST00000444310.5	protein_coding	5/16	1376/4017	1226/3426	409/1141	INFO_REALIGN_3_PRIME	chr16	TogoVar
C16orf96_chr16_4551340_4605758	4592333	TCCTGTGA others(4): Show TCCTGTGACCGG	T T	frameshift_variant frameshift_variant	HIGH	NA18906.hp1 NA18906.hp1	a0030 a0030	a0030c0042 a0030c0042	a0030c0042t0004 a0030c0042t0004	a0030c0042t0004g0224 a0030c0042t0004g0224	1	276	0.0036	-11	c.274 others(20): Show c.2747_2757delACCGGCCTGTG	p.Asp others(5): Show p.Asp916fs	C16orf96	ENSG00000205832.8	transcript	ENST00000444310.5	protein_coding	11/16	2897/4017	2747/3426	916/1141	INFO_REALIGN_3_PRIME	chr16	TogoVar
C17orf107_chr17_4894536_4907934	4900042	AACCGAAG AACCGAAG	A A	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00558.hp2 HG02071.hp1 others(11): Show HG00408.hp1 HG00558.hp2 HG02071.hp1 HG02074.hp1 HG02165.hp2 NA18942.hp1 NA18947.hp1 NA18955.hp1 NA18972.hp2 NA18992.hp1 NA18993.hp1 NA19002.hp2 NA19065.hp2 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0008 a0003c0003t0001 a0003c0003t0008	a0003c0003t0001g0001 a0003c0003t0008g0001 a0003c0003t0001g0001 a0003c0003t0008g0001	14	440	0.0318	-7	c.175 others(14): Show c.175_181delCCGAAGA	p.Pro others(4): Show p.Pro59fs	C17orf107	ENSG00000205710.4	transcript	ENST00000381365.4	protein_coding	2/3	402/3201	175/573	59/190	INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf50_chr17_35755887_35770079	35764504	CGA CGA	C C	frameshift_variant frameshift_variant	HIGH	NA18951.hp2 NA18964.hp1 NA18980.hp1 others(3): Show NA18951.hp2 NA18964.hp1 NA18980.hp1 NA19068.hp1 NA19072.hp2 NA19078.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0113 others(1): Show a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0113 a0003c0003t0001g0114	6	406	0.0148	-2	c.413 others(9): Show c.413_414delAG	p.Glu others(5): Show p.Glu138fs	C17orf50	ENSG00000270806.2	transcript	ENST00000605587.2	protein_coding	3/3	468/1041	413/525	138/174	INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf80_chr17_73227433_73253959	73235569	G G	GATGATAG others(22): Show GATGATAGGACCAACCATACCTACTGATCA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19072.hp2 NA19072.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0129 a0011c0019t0001g0129	1	382	0.0026	29	c.89_ others(35): Show c.89_117dupTGATAGGACCAACCATACCTACTGATCAA	p.Lys others(4): Show p.Lys40fs	C17orf80	ENSG00000141219.16	transcript	ENST00000535032.7	protein_coding	3/6	288/3618	118/1830	40/609	INFO_REALIGN_3_PRIME	chr17	TogoVar
C1QTNF12_chr1_1237453_1251722	1242514	GGCGGCAG others(36): Show GGCGGCAGCTCCTCGCCAGCCCCCCTGGGCGCCCTCACGTGCCC	G G	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG04115.hp1 HG04115.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0004 a0011c0022t0004	a0011c0022t0004g0034 a0011c0022t0004g0034	1	326	0.0031	-43	c.900 others(50): Show c.900_*33delGGGCACGTGAGGGCGCCCAGGGGGGCTGGCGAGGAGCT GCCGC	p.Leu others(5): Show p.Leu300fs	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	8/8	974/1036	900/909	300/302		chr1	TogoVar
C1QTNF4_chr11_47584667_47599411	47590762	GGGCCCAG others(19): Show GGGCCCAGCAGGCCGCTGGGCCCAGCA	G G	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00423.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0031 a0003c0005t0001g0031	1	406	0.0025	-26	c.23_ others(31): Show c.23_48delTGCTGGGCCCAGCGGCCTGCTGGGCC	p.Leu others(3): Show p.Leu8fs	C1QTNF4	ENSG00000172247.4	transcript	ENST00000302514.4	protein_coding	2/2	317/1413	23/990	8/329		chr11	TogoVar
C1QTNF5_chr11_119333942_119345883	119340275	ATGGTGGC others(124): Show ATGGTGGCCCGGCGTGCCTGGAAGGCCGGGGTGCCCCGGGCAGAGGCTGG GGATCTTGTTGTCGTCCAGTGGGGGCGAGCCGGCCGCCAGGCCCAGGAGC AGCAGGACGAGGAGTGGCCTCATAGCGCTGGC	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	NA18967.hp2 NA18967.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0013 a0004c0004t0007g0013	1	386	0.0026	-131	c.-9_ others(6): Show c.-9_122del	p.Met others(3): Show p.Met1fs	C1QTNF5	ENSG00000223953.6	transcript	ENST00000528368.3	protein_coding	2/3	354/1353	1/732	1/243		chr11	TogoVar
C1QTNF8_chr16_1083226_1101244	1093978	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01109.hp2 HG01243.hp2 HG02647.hp2 others(6): Show HG01109.hp2 HG01243.hp2 HG02647.hp2 HG02970.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 NA19030.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0007 a0002c0002t0009g0110 a0002c0002t0009g0007 a0002c0002t0009g0110	9	394	0.0228	1	c.281 others(4): Show c.281dupG	p.Leu others(4): Show p.Leu95fs	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/5	555/3406	281/759	94/252		chr16	TogoVar
C1orf167_chr1_11757193_11794585	11767056	GAC GAC	G G	frameshift_variant frameshift_variant	HIGH	HG02258.hp1 HG02280.hp1 HG03516.hp1 others(1): Show HG02258.hp1 HG02280.hp1 HG03516.hp1 HG03579.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0017 a0014c0015t0001g0115 a0014c0015t0001g0116 others(1): Show a0014c0015t0001g0017 a0014c0015t0001g0115 a0014c0015t0001g0116 a0014c0015t0001g0133	4	348	0.0115	-2	c.127 others(11): Show c.1274_1275delCA	p.Thr others(5): Show p.Thr425fs	C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding	3/21	1457/4672	1274/4350	425/1449	INFO_REALIGN_3_PRIME	chr1	TogoVar
C20orf204_chr20_64031182_64044001	64037971	G G	GGGGACCG others(22): Show GGGGACCGCGCCAAGCCGCGCCTATTCCCC	frameshift_variant frameshift_variant	HIGH	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0002 a0003c0004t0002g0002	1	390	0.0026	29	c.51_ others(34): Show c.51_79dupGACCGCGCCAAGCCGCGCCTATTCCCCGG	p.Ala others(4): Show p.Ala27fs	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding	2/4	222/954	80/570	27/189	INFO_REALIGN_3_PRIME	chr20	TogoVar
C2CD4C_chr19_400445_414147	407718	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG00735.hp1 HG01099.hp1 others(10): Show HG00642.hp2 HG00735.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp1 HG01952.hp2 HG01993.hp2 HG02258.hp1 NA19060.hp2 NA19063.hp2 NA19081.hp1 NA19090.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0017 a0002c0003 a0003c0017	a0002c0003t0001 a0002c0003t0005 a0002c0003t0008 others(6): Show a0002c0003t0001 a0002c0003t0005 a0002c0003t0008 a0002c0003t0013 a0002c0003t0021 a0002c0003t0023 a0002c0003t0036 a0002c0003t0095 a0003c0017t0005	a0002c0003t0001g0023 a0002c0003t0005g0043 a0002c0003t0008g0115 others(7): Show a0002c0003t0001g0023 a0002c0003t0005g0043 a0002c0003t0008g0115 a0002c0003t0008g0167 a0002c0003t0013g0118 a0002c0003t0021g0120 a0002c0003t0023g0117 a0002c0003t0036g0119 a0002c0003t0095g0116 a0003c0017t0005g0170	13	320	0.0406	1	c.643 others(4): Show c.643dupG	p.Glu others(5): Show p.Glu215fs	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding	2/2	825/3099	643/1266	215/421		chr19	TogoVar
C2CD4C_chr19_400445_414147	408312	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00639.hp1 HG01175.hp1 HG01884.hp2 others(5): Show HG00639.hp1 HG01175.hp1 HG01884.hp2 HG02647.hp2 NA18944.hp1 NA18967.hp2 NA19063.hp2 NA19067.hp2	a0003 a0003	a0003c0005 a0003c0017 a0003c0018 a0003c0005 a0003c0017 a0003c0018	a0003c0005t0001 a0003c0005t0006 a0003c0005t0023 others(5): Show a0003c0005t0001 a0003c0005t0006 a0003c0005t0023 a0003c0005t0035 a0003c0005t0057 a0003c0005t0073 a0003c0017t0005 a0003c0018t0007	a0003c0005t0001g0147 a0003c0005t0006g0169 a0003c0005t0023g0145 others(5): Show a0003c0005t0001g0147 a0003c0005t0006g0169 a0003c0005t0023g0145 a0003c0005t0035g0146 a0003c0005t0057g0144 a0003c0005t0073g0175 a0003c0017t0005g0170 a0003c0018t0007g0148	8	320	0.0250	1	c.49d others(3): Show c.49dupG	p.Glu others(4): Show p.Glu17fs	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding	2/2	231/3099	49/1266	17/421		chr19	TogoVar
C2orf42_chr2_70144885_70196019	70165549	G G	GT GT	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG00741.hp1 HG01109.hp1 others(12): Show HG00597.hp2 HG00741.hp1 HG01109.hp1 HG01433.hp2 HG01496.hp2 HG02080.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18985.hp1 NA18987.hp2 NA18992.hp1 NA19010.hp1 NA19030.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0003c0007 a0005c0009 a0003c0003 a0003c0007 a0005c0009	a0003c0003t0001 a0003c0007t0001 a0005c0009t0001 a0003c0003t0001 a0003c0007t0001 a0005c0009t0001	a0003c0003t0001g0016 a0003c0003t0001g0060 a0003c0003t0001g0077 others(12): Show a0003c0003t0001g0016 a0003c0003t0001g0060 a0003c0003t0001g0077 a0003c0003t0001g0148 a0003c0003t0001g0160 a0003c0003t0001g0200 a0003c0003t0001g0203 a0003c0003t0001g0216 a0003c0003t0001g0261 a0003c0003t0001g0289 a0003c0003t0001g0294 a0003c0003t0001g0316 a0003c0007t0001g0187 a0003c0007t0001g0226 a0005c0009t0001g0035	15	344	0.0436	1	c.123 others(5): Show c.1230dupA	p.Arg others(5): Show p.Arg411fs	C2orf42	ENSG00000115998.8	transcript	ENST00000264434.7	protein_coding	7/10	1558/2524	1230/1725	410/574		chr2	TogoVar
C2orf50_chr2_11128128_11156317	11133332	A A	AC AC	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00438.hp1 HG00609.hp1 HG00639.hp2 others(74): Show HG00438.hp1 HG00609.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18962.hp2 NA18970.hp1 NA18972.hp1 NA18987.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0005 a0001c0001 a0002c0003 a0005c0005	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(32): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0002c0003t0034 a0005c0005t0039	a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 others(59): Show a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0182 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0007g0010 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0183 a0001c0001t0007g0185 a0001c0001t0007g0199 a0001c0001t0007g0204 a0001c0001t0011g0004 a0001c0001t0011g0010 a0001c0001t0011g0040 a0001c0001t0011g0184 a0001c0001t0013g0019 a0001c0001t0013g0210 a0001c0001t0014g0035 a0001c0001t0014g0178 a0001c0001t0014g0201 a0001c0001t0019g0010 a0001c0001t0019g0039 a0001c0001t0019g0187 a0001c0001t0019g0205 a0001c0001t0021g0004 a0001c0001t0021g0010 a0001c0001t0021g0014 a0001c0001t0022g0018 a0001c0001t0024g0208 a0001c0001t0024g0209 a0001c0001t0025g0181 a0001c0001t0025g0202 a0001c0001t0033g0207 a0001c0001t0035g0180 a0001c0001t0036g0206 a0001c0001t0037g0179 a0001c0001t0038g0203 a0001c0001t0043g0036 a0001c0001t0044g0036 a0001c0001t0045g0211 a0001c0001t0047g0037 a0001c0001t0048g0192 a0001c0001t0049g0038 a0001c0001t0050g0190 a0001c0001t0051g0014 a0001c0001t0052g0194 a0001c0001t0053g0191 a0001c0001t0054g0188 a0001c0001t0055g0189 a0001c0001t0056g0014 a0001c0001t0057g0193 a0001c0001t0058g0186 a0001c0001t0059g0014 a0001c0001t0060g0198 a0001c0001t0061g0212 a0002c0003t0034g0046 a0005c0005t0039g0045	77	378	0.2037	1	c.-1d others(3): Show c.-1dupC	p.Met others(3): Show p.Met1fs	C2orf50	ENSG00000150873.12	transcript	ENST00000381585.8	protein_coding	1/3	208/7902	1/489	1/162	INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf73_chr2_54325884_54366581	54360200	CAG CAG	C C	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG01884.hp2 HG02451.hp2 HG02965.hp2 others(2): Show HG01884.hp2 HG02451.hp2 HG02965.hp2 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0022 a0001c0001t0001g0036	5	412	0.0121	-2	c.506 others(9): Show c.506_507delGA	p.Arg others(5): Show p.Arg169fs	C2orf73	ENSG00000177994.16	transcript	ENST00000398634.7	protein_coding	5/5	598/1975	506/864	169/287	INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf92_chr2_97664713_97708066	97701148	ATTTAGAT others(31): Show ATTTAGATGCTCACTTTAGGACTATGCCCTGCGGGCAGC	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG02895.hp1 HG02895.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0171 a0006c0011t0002g0171	1	308	0.0032	-38	c.515 others(47): Show c.515-3_549delTAGATGCTCACTTTAGGACTATGCCCTGCGGGCAGC TT	p.Asp others(5): Show p.Asp172fs	C2orf92	ENSG00000228486.11	transcript	ENST00000627399.4	protein_coding	7/8		515/798	172/265	INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf92_chr2_97664713_97708066	97702739	GA GA	G G	frameshift_variant frameshift_variant	HIGH	HG01243.hp1 HG01358.hp1 HG02451.hp1 others(12): Show HG01243.hp1 HG01358.hp1 HG02451.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp2	a0004 a0010 a0004 a0010	a0004c0004 a0010c0010 a0004c0004 a0010c0010	a0004c0004t0001 a0010c0010t0001 a0004c0004t0001 a0010c0010t0001	a0004c0004t0001g0020 a0004c0004t0001g0079 a0004c0004t0001g0080 others(11): Show a0004c0004t0001g0020 a0004c0004t0001g0079 a0004c0004t0001g0080 a0004c0004t0001g0081 a0004c0004t0001g0082 a0004c0004t0001g0083 a0004c0004t0001g0084 a0004c0004t0001g0085 a0004c0004t0001g0086 a0004c0004t0001g0087 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0092 a0010c0010t0001g0088	15	308	0.0487	-1	c.743 others(4): Show c.743delA	p.Asn others(5): Show p.Asn248fs	C2orf92	ENSG00000228486.11	transcript	ENST00000627399.4	protein_coding	8/8	819/1139	743/798	248/265	INFO_REALIGN_3_PRIME	chr2	TogoVar
C3orf49_chr3_63814299_63853636	63831135	C C	CACACT CACACT	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG00673.hp2 HG02027.hp2 others(17): Show HG00621.hp2 HG00673.hp2 HG02027.hp2 HG02132.hp1 HG02165.hp2 NA18973.hp2 NA18986.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19070.hp1 NA19074.hp2 NA19082.hp1 NA19087.hp1 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0027 a0003c0003t0001g0043 others(11): Show a0003c0003t0001g0003 a0003c0003t0001g0027 a0003c0003t0001g0043 a0003c0003t0001g0105 a0003c0003t0001g0108 a0003c0003t0001g0119 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0128 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0138 a0003c0003t0001g0154 a0003c0003t0001g0155	20	386	0.0518	5	c.597 others(12): Show c.597_601dupACACT	p.Phe others(5): Show p.Phe201fs	C3orf49	ENSG00000163632.15	transcript	ENST00000295896.13	protein_coding	4/7	775/1355	602/879	201/292	INFO_REALIGN_3_PRIME	chr3	TogoVar
C8orf34_chr8_68325955_68824023	68331068	TCCGGCTC others(7): Show TCCGGCTCTCAGCGC	T T	frameshift_variant frameshift_variant	HIGH	HG02109.hp1 HG02717.hp2 HG03453.hp1 others(1): Show HG02109.hp1 HG02717.hp2 HG03453.hp1 HG03540.hp2	a0003 a0003	a0003c0006 a0003c0008 a0003c0006 a0003c0008	a0003c0006t0001 a0003c0006t0004 a0003c0008t0001 a0003c0006t0001 a0003c0006t0004 a0003c0008t0001	a0003c0006t0001g0122 a0003c0006t0001g0125 a0003c0006t0004g0124 others(1): Show a0003c0006t0001g0122 a0003c0006t0001g0125 a0003c0006t0004g0124 a0003c0008t0001g0123	4	126	0.0317	-14	c.59_ others(19): Show c.59_72delGGCTCTCAGCGCCC	p.Arg others(4): Show p.Arg20fs	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	1/14	117/2452	59/1617	20/538	INFO_REALIGN_3_PRIME	chr8	TogoVar
CAB39L_chr13_49303650_49449064	49331951	A A	AAAGACAT others(27): Show AAAGACATGGGGGGGGGGGGGGGGGGGGGGGGGGG	frameshift_variant frameshift_variant	HIGH	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0244 a0002c0003t0002g0244	1	322	0.0031	34	c.829 others(41): Show c.829_830insCCCCCCCCCCCCCCCCCCCCCCCCCCCATGTCTT	p.Phe others(5): Show p.Phe277fs	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/11	1153/3502	829/1014	277/337		chr13	TogoVar
CABIN1_chr22_24006304_24183628	24113620	ACTTCTTT others(6): Show ACTTCTTTAATGAG	A A	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0173 a0015c0021t0001g0173	1	266	0.0038	-13	c.417 others(22): Show c.4174_4186delTTCTTTAATGAGC	p.Phe others(6): Show p.Phe1392fs	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	27/37	4312/7233	4174/6663	1392/2220	INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES2_chr20_62383634_62412285	62406982	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01952.hp1 HG02155.hp1 others(6): Show HG00735.hp2 HG01952.hp1 HG02155.hp1 HG02486.hp1 HG02738.hp1 HG03098.hp1 NA18987.hp1 NA19062.hp1 NA19062.hp2	a0005 a0010 a0005 a0010	a0005c0009 a0005c0012 a0005c0013 others(2): Show a0005c0009 a0005c0012 a0005c0013 a0005c0014 a0010c0018	a0005c0009t0001 a0005c0009t0023 a0005c0012t0002 others(3): Show a0005c0009t0001 a0005c0009t0023 a0005c0012t0002 a0005c0013t0029 a0005c0014t0015 a0010c0018t0002	a0005c0009t0001g0055 a0005c0009t0001g0057 a0005c0009t0001g0058 others(6): Show a0005c0009t0001g0055 a0005c0009t0001g0057 a0005c0009t0001g0058 a0005c0009t0001g0059 a0005c0009t0023g0060 a0005c0012t0002g0061 a0005c0013t0029g0056 a0005c0014t0015g0062 a0010c0018t0002g0215	9	398	0.0226	1	c.294 others(4): Show c.294dupC	p.Ala others(4): Show p.Ala99fs	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/10	303/3783	294/1437	98/478		chr20	TogoVar
CABYR_chr18_24134062_24166600	24160067	CTG CTG	C C	frameshift_variant others(2): Show frameshift_variant stop_lost splice_region_variant	HIGH	HG01884.hp2 HG02559.hp1 HG02723.hp2 others(7): Show HG01884.hp2 HG02559.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0015 a0001c0001t0002g0103 a0001c0001t0002g0104 others(5): Show a0001c0001t0002g0015 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0002t0002g0125	10	406	0.0246	-2	c.113 others(11): Show c.1138_1139delTG	p.Ter others(5): Show p.Ter380fs	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding	5/6	1219/1305	1138/1140	380/379		chr18	TogoVar
CACNA1A_chr19_13201442_13511479	13207516	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01106.hp1 HG01109.hp1 HG01255.hp2 others(15): Show HG01106.hp1 HG01109.hp1 HG01255.hp2 HG01261.hp1 HG02056.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG03471.hp2 HG03669.hp1 HG03942.hp2 NA18946.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1	a0009 a0010 a0013 others(5): Show a0009 a0010 a0013 a0022 a0025 a0026 a0036 a0041	a0009c0014 a0009c0051 a0009c0076 others(13): Show a0009c0014 a0009c0051 a0009c0076 a0010c0053 a0010c0083 a0010c0107 a0010c0128 a0013c0048 a0013c0111 a0013c0115 a0022c0079 a0022c0109 a0025c0064 a0026c0041 a0036c0069 a0041c0063	a0009c0014t0002 a0009c0014t0020 a0009c0051t0002 others(14): Show a0009c0014t0002 a0009c0014t0020 a0009c0051t0002 a0009c0076t0002 a0010c0053t0002 a0010c0083t0004 a0010c0107t0007 a0010c0128t0001 a0013c0048t0001 a0013c0111t0001 a0013c0115t0001 a0022c0079t0002 a0022c0109t0001 a0025c0064t0001 a0026c0041t0001 a0036c0069t0004 a0041c0063t0002	a0009c0014t0002g0048 a0009c0014t0002g0195 a0009c0014t0020g0175 others(15): Show a0009c0014t0002g0048 a0009c0014t0002g0195 a0009c0014t0020g0175 a0009c0051t0002g0177 a0009c0076t0002g0109 a0010c0053t0002g0190 a0010c0083t0004g0159 a0010c0107t0007g0004 a0010c0128t0001g0139 a0013c0048t0001g0140 a0013c0111t0001g0209 a0013c0115t0001g0068 a0022c0079t0002g0059 a0022c0109t0001g0198 a0025c0064t0001g0100 a0026c0041t0001g0107 a0036c0069t0004g0026 a0041c0063t0002g0196	18	216	0.0833	1	c.731 others(5): Show c.7317dupC	p.Val others(6): Show p.Val2440fs	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7572/8647	7317/7521	2439/2506		chr19	TogoVar
CACNA1I_chr22_39565753_39694735	39679394	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01099.hp1 HG01255.hp2 others(8): Show HG00642.hp2 HG01099.hp1 HG01255.hp2 HG01261.hp1 HG01496.hp1 HG01934.hp2 HG02071.hp2 HG02615.hp2 HG02698.hp2 HG02738.hp1 HG04184.hp2	a0006 a0009 a0020 a0006 a0009 a0020	a0006c0012 a0006c0015 a0009c0028 others(2): Show a0006c0012 a0006c0015 a0009c0028 a0009c0041 a0020c0043	a0006c0012t0003 a0006c0012t0004 a0006c0012t0005 others(6): Show a0006c0012t0003 a0006c0012t0004 a0006c0012t0005 a0006c0012t0008 a0006c0015t0002 a0009c0028t0004 a0009c0028t0013 a0009c0041t0001 a0020c0043t0007	a0006c0012t0003g0013 a0006c0012t0004g0031 a0006c0012t0005g0120 others(8): Show a0006c0012t0003g0013 a0006c0012t0004g0031 a0006c0012t0005g0120 a0006c0012t0008g0143 a0006c0015t0002g0189 a0006c0015t0002g0224 a0006c0015t0002g0225 a0009c0028t0004g0035 a0009c0028t0013g0052 a0009c0041t0001g0037 a0020c0043t0007g0149	11	234	0.0470	1	c.534 others(5): Show c.5348dupG	p.Asp others(6): Show p.Asp1784fs	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	32/37	5349/10002	5349/6672	1783/2223	INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1S_chr1_201034512_201117426	201112283	TGGCTTCT others(7): Show TGGCTTCTTGGGCTG	T T	frameshift_variant frameshift_variant	HIGH	NA19065.hp1 NA19065.hp1	a0033 a0033	a0033c0040 a0033c0040	a0033c0040t0001 a0033c0040t0001	a0033c0040t0001g0008 a0033c0040t0001g0008	1	312	0.0032	-14	c.43_ others(19): Show c.43_56delCAGCCCAAGAAGCC	p.Gln others(4): Show p.Gln15fs	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	1/44	143/6028	43/5622	15/1873		chr1	TogoVar
CACNB2_chr10_18135424_18548557	18533990	C C	CTCACCTT others(84): Show CTCACCTTTCTGTTGAAGAAACAGTATACCATTTTACTTTATCTTAAAAA TACTGCACTTTAACTGAATTGTTTCGCCCTTTACAGCGGAAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	200	0.0050	91	c.105 others(103): Show c.1055-84_1061dupCACCTTTCTGTTGAAGAAACAGTATACCATTTT ACTTTATCTTAAAAATACTGCACTTTAACTGAATTGTTTCGCCCTTTACA GCGGAAGT	p.Gln others(5): Show p.Gln355fs	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	11/14	1375/6129	1062/1983	354/660	INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18533990	C C	CTCACCTT others(84): Show CTCACCTTTCTGTTGAAGAAACAGTATACCATTTTACTTTATCTTAAAAA TACTGCACTTTAACTGAATTGTTTCGCCCTTTACAGCGGAAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0026 a0001c0001t0010g0026	1	300	0.0033	91	c.893 others(101): Show c.893-84_899dupCACCTTTCTGTTGAAGAAACAGTATACCATTTTAC TTTATCTTAAAAATACTGCACTTTAACTGAATTGTTTCGCCCTTTACAGC GGAAGT	p.Gln others(5): Show p.Gln301fs	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	10/13	1118/5872	900/1821	300/606	INFO_REALIGN_3_PRIME	chr10	TogoVar
CALCOCO2_chr17_48826035_48870245	48852915	T T	TTTTTGTG others(13): Show TTTTTGTGCAGAGGAAGGACC	frameshift_variant frameshift_variant	HIGH	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0044 a0002c0003t0001g0044	1	326	0.0031	20	c.826 others(30): Show c.826-10_835dupTTTTGTGCAGAGGAAGGACC	p.Gln others(5): Show p.Gln279fs	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/13	890/3635	836/1341	279/446	INFO_REALIGN_3_PRIME	chr17	TogoVar
CAMK2B_chr7_44212154_44330594	44325325	CCGGCCCA others(71): Show CCGGCCCAGCCCGCGCGCGCCGCTGCTCTTACTTGCCAATATCCTCGTAG AGCTGGTACTCGTCGGTGAAGCGGGTGCA	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01074.hp2 HG01074.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0004 a0004c0016t0004	a0004c0016t0004g0008 a0004c0016t0004g0008	1	240	0.0042	-78	c.19_ others(86): Show c.19_65+31delTGCACCCGCTTCACCGACGAGTACCAGCTCTACGAGG ATATTGGCAAGTAAGAGCAGCGGCGCGCGCGGGCTGGGCCG	p.Cys others(3): Show p.Cys7fs	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	1/24		19/2001	7/666		chr7	TogoVar
CAPN11_chr6_44153820_44189401	44172317	T T	TGGCTGCC TGGCTGCC	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG01167.hp1 HG01167.hp2 others(18): Show HG00323.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01934.hp1 HG02055.hp1 HG02647.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0003g0009 a0001c0001t0003g0037 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0004	21	458	0.0459	7	c.426 others(14): Show c.426_432dupGGCTGCC	p.Ile others(5): Show p.Ile145fs	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	5/23	462/2718	433/2220	145/739	INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38734364	TCTGGGGG others(18): Show TCTGGGGGTGGAGGTATGGGCCCTGG	T T	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG03490.hp2 HG03490.hp2	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0001 a0016c0021t0001	a0016c0021t0001g0144 a0016c0021t0001g0144	1	340	0.0029	-25	c.174 others(34): Show c.1745_1769delCCAGGGCCCATACCTCCACCCCCAG	p.Ala others(5): Show p.Ala582fs	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	16/21	2078/3129	1745/2160	582/719		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736154	AGCCTCGT others(51): Show AGCCTCGTCGCCGGCGTGGGCGGTGCTCGGCACCACCAGGTAGTGGCCTG GACGCAGGC	A A	frameshift_variant frameshift_variant	HIGH	HG01346.hp1 HG01346.hp1	a0011 a0011	a0011c0034 a0011c0034	a0011c0034t0002 a0011c0034t0002	a0011c0034t0002g0196 a0011c0034t0002g0196	1	340	0.0029	-58	c.148 others(67): Show c.1481_1538delGCCTGCGTCCAGGCCACTACCTGGTGGTGCCGAGCA CCGCCCACGCCGGCGACGAGGC	p.Cys others(5): Show p.Cys494fs	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/21	1847/3129	1481/2160	494/719		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38737261	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01099.hp1 HG02056.hp2 HG02145.hp2 others(12): Show HG01099.hp1 HG02056.hp2 HG02145.hp2 HG02523.hp1 HG03098.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG04184.hp2 NA18987.hp1 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19083.hp1 NA19090.hp1	a0004 a0010 a0021 a0004 a0010 a0021	a0004c0008 a0004c0010 a0004c0026 others(3): Show a0004c0008 a0004c0010 a0004c0026 a0004c0036 a0010c0018 a0021c0017	a0004c0008t0001 a0004c0008t0003 a0004c0008t0005 others(6): Show a0004c0008t0001 a0004c0008t0003 a0004c0008t0005 a0004c0008t0008 a0004c0010t0002 a0004c0026t0001 a0004c0036t0002 a0010c0018t0004 a0021c0017t0003	a0004c0008t0001g0131 a0004c0008t0001g0142 a0004c0008t0001g0143 others(12): Show a0004c0008t0001g0131 a0004c0008t0001g0142 a0004c0008t0001g0143 a0004c0008t0001g0147 a0004c0008t0003g0270 a0004c0008t0005g0276 a0004c0008t0008g0246 a0004c0010t0002g0197 a0004c0010t0002g0198 a0004c0010t0002g0206 a0004c0010t0002g0207 a0004c0026t0001g0091 a0004c0036t0002g0212 a0010c0018t0004g0040 a0021c0017t0003g0262	15	338	0.0444	1	c.125 others(5): Show c.1256dupG	p.Arg others(5): Show p.Arg420fs	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	10/21	1565/3129	1256/2160	419/719		chr19	TogoVar
CAPN15_chr16_522712_559636	552143	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00735.hp1 HG00738.hp2 HG01099.hp1 others(21): Show HG00735.hp1 HG00738.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp1 HG01928.hp1 HG02027.hp2 HG02148.hp2 HG02257.hp1 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02738.hp1 HG02970.hp2 HG03098.hp2 HG03688.hp1 NA18954.hp1 NA18955.hp1 NA18966.hp2 NA18994.hp1 NA19000.hp2 NA19009.hp1 NA19077.hp2 NA19091.hp2	a0002 a0005 a0012 others(2): Show a0002 a0005 a0012 a0017 a0021	a0002c0012 a0002c0014 a0002c0015 others(12): Show a0002c0012 a0002c0014 a0002c0015 a0002c0016 a0002c0047 a0002c0048 a0002c0049 a0002c0059 a0002c0069 a0005c0034 a0005c0036 a0005c0038 a0012c0076 a0017c0079 a0021c0030	a0002c0012t0001 a0002c0012t0002 a0002c0014t0001 others(18): Show a0002c0012t0001 a0002c0012t0002 a0002c0014t0001 a0002c0014t0002 a0002c0015t0001 a0002c0015t0002 a0002c0015t0004 a0002c0016t0001 a0002c0016t0002 a0002c0016t0003 a0002c0047t0001 a0002c0048t0001 a0002c0049t0002 a0002c0059t0002 a0002c0069t0001 a0005c0034t0001 a0005c0036t0001 a0005c0038t0001 a0012c0076t0003 a0017c0079t0002 a0021c0030t0002	a0002c0012t0001g0260 a0002c0012t0002g0061 a0002c0012t0002g0259 others(21): Show a0002c0012t0001g0260 a0002c0012t0002g0061 a0002c0012t0002g0259 a0002c0012t0002g0266 a0002c0014t0001g0319 a0002c0014t0001g0329 a0002c0014t0002g0098 a0002c0015t0001g0020 a0002c0015t0002g0154 a0002c0015t0004g0252 a0002c0016t0001g0201 a0002c0016t0002g0223 a0002c0016t0003g0118 a0002c0047t0001g0371 a0002c0048t0001g0226 a0002c0049t0002g0384 a0002c0059t0002g0065 a0002c0069t0001g0204 a0005c0034t0001g0398 a0005c0036t0001g0391 a0005c0038t0001g0035 a0012c0076t0003g0287 a0017c0079t0002g0097 a0021c0030t0002g0056	24	408	0.0588	1	c.244 others(5): Show c.2443dupG	p.Val others(5): Show p.Val815fs	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	10/14	2951/4888	2444/3261	815/1086	INFO_REALIGN_3_PRIME	chr16	TogoVar
CARD19_chr9_93091217_93118283	93111869	TTGTTTCC others(19): Show TTGTTTCCAGAGAACTCAGATTGCACA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18972.hp2 NA18972.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0054 a0006c0010t0002g0054	1	356	0.0028	-26	c.305 others(35): Show c.305-9_321delTGTTTCCAGAGAACTCAGATTGCACA	p.Gln others(5): Show p.Gln102fs	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding	4/6		305/552	102/183		chr9	TogoVar
CARD6_chr5_40836367_40860354	40841469	CTT CTT	C C	frameshift_variant frameshift_variant	HIGH	HG01074.hp2 HG01081.hp1 HG01256.hp1 others(2): Show HG01074.hp2 HG01081.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0003 a0005c0006t0002g0021 a0005c0006t0002g0084 a0005c0006t0002g0003 a0005c0006t0002g0021 a0005c0006t0002g0084	5	438	0.0114	-2	c.88_ others(7): Show c.88_89delTT	p.Leu others(4): Show p.Leu30fs	CARD6	ENSG00000132357.14	transcript	ENST00000254691.10	protein_coding	1/3	104/4038	88/3114	30/1037		chr5	TogoVar
CARD8_chr19_48203086_48260912	48231760	C C	CTT CTT	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01109.hp1 HG02135.hp2 others(16): Show HG00642.hp2 HG01109.hp1 HG02135.hp2 HG02738.hp2 HG03239.hp1 HG03831.hp2 HG04204.hp2 NA18947.hp1 NA18961.hp2 NA18972.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19067.hp1 NA19070.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0003 a0003	a0003c0006 a0003c0009 a0003c0019 a0003c0006 a0003c0009 a0003c0019	a0003c0006t0003 a0003c0006t0007 a0003c0006t0016 others(3): Show a0003c0006t0003 a0003c0006t0007 a0003c0006t0016 a0003c0006t0043 a0003c0009t0002 a0003c0019t0007	a0003c0006t0003g0051 a0003c0006t0003g0055 a0003c0006t0003g0152 others(16): Show a0003c0006t0003g0051 a0003c0006t0003g0055 a0003c0006t0003g0152 a0003c0006t0003g0172 a0003c0006t0003g0173 a0003c0006t0003g0174 a0003c0006t0003g0175 a0003c0006t0003g0176 a0003c0006t0003g0180 a0003c0006t0007g0057 a0003c0006t0016g0248 a0003c0006t0016g0279 a0003c0006t0043g0056 a0003c0009t0002g0131 a0003c0009t0002g0132 a0003c0009t0002g0133 a0003c0009t0002g0142 a0003c0009t0002g0171 a0003c0019t0007g0136	19	360	0.0528	2	c.440 others(9): Show c.440_441dupAA	p.Val others(5): Show p.Val148fs	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	8/14	813/5610	441/1614	147/537		chr19	TogoVar
CASKIN1_chr16_2172180_2201605	2183700	GATCTTCT others(3): Show GATCTTCTTCC	G G	frameshift_variant frameshift_variant	HIGH	NA18969.hp2 NA18969.hp2	a0029 a0029	a0029c0022 a0029c0022	a0029c0022t0001 a0029c0022t0001	a0029c0022t0001g0162 a0029c0022t0001g0162	1	348	0.0029	-10	c.156 others(19): Show c.1565_1574delGGAAGAAGAT	p.Arg others(5): Show p.Arg522fs	CASKIN1	ENSG00000167971.16	transcript	ENST00000343516.8	protein_coding	16/20	1747/5839	1565/4296	522/1431		chr16	TogoVar
CASP5_chr11_104989243_105028168	105008883	TAGCATGT others(25): Show TAGCATGTGGTTTATCACGAAGTTATCCAATCC	T T	frameshift_variant frameshift_variant	HIGH	HG03704.hp2 HG03704.hp2	a0019 a0019	a0019c0021 a0019c0021	a0019c0021t0001 a0019c0021t0001	a0019c0021t0001g0216 a0019c0021t0001g0216	1	394	0.0025	-32	c.73_ others(38): Show c.73_104delGGATTGGATAACTTCGTGATAAACCACATGCT	p.Gly others(4): Show p.Gly25fs	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	2/10	136/1446	73/1305	25/434		chr11	TogoVar
CATSPER1_chr11_66011752_66031479	66021479	GAGCCGTG others(26): Show GAGCCGTGGCCACTGACCTGAGCCTCCGCAGGAC	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19003.hp2 NA19003.hp2	a0018 a0018	a0018c0025 a0018c0025	a0018c0025t0001 a0018c0025t0001	a0018c0025t0001g0134 a0018c0025t0001g0134	1	406	0.0025	-33	c.167 others(45): Show c.1675_1691+16delGTCCTGCGGAGGCTCAGGTCAGTGGCCACGGCT	p.Val others(5): Show p.Val559fs	CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding	4/12		1675/2343	559/780		chr11	TogoVar
CATSPERG_chr19_38330830_38375943	38337293	AGGTGCTG others(12): Show AGGTGCTGTGGGCCCTGCTG	A A	frameshift_variant frameshift_variant	HIGH	HG01258.hp1 HG01258.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0264 a0008c0014t0001g0264	1	374	0.0027	-19	c.61_ others(24): Show c.61_79delGTGCTGTGGGCCCTGCTGG	p.Val others(4): Show p.Val21fs	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	2/29	121/3691	61/3480	21/1159	INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38362379	T T	TACTACTT others(22): Show TACTACTTCTTCTTGGCGAGCAATTGGCGA	frameshift_variant frameshift_variant	HIGH	NA18977.hp1 NA18977.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0195 a0015c0020t0001g0195	1	374	0.0027	29	c.216 others(38): Show c.2163_2191dupCTACTTCTTCTTGGCGAGCAATTGGCGAA	p.Ser others(5): Show p.Ser731fs	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	19/29	2252/3691	2192/3480	731/1159	INFO_REALIGN_3_PRIME	chr19	TogoVar
CAVIN3_chr11_6313946_6325501	6320408	C C	CTCAAAAA others(3): Show CTCAAAAAAGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01243.hp2 HG01243.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0016 a0008c0011t0001g0016	1	424	0.0024	10	c.68_ others(15): Show c.68_69insCCTTTTTTGA	p.Thr others(4): Show p.Thr24fs	CAVIN3	ENSG00000170955.10	transcript	ENST00000303927.4	protein_coding	1/2	93/1028	68/786	23/261		chr11	TogoVar

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