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	distance	status	chr	external
C12orf56_chr12_64259762_64395758	64366859	T T	TTATATAT others(22): Show TTATATATAACATACAGTTTATATATATTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0003 a0002c0002t0010g0003	1	243	0.0041	29	c.253 others(48): Show c.253-13804_253-13803insTAATATATATAAACTGTATGTTATAT ATA		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12						chr12	TogoVar
C13orf46_chr13_113948705_113979076	113958745	T T	TAACACCA others(22): Show TAACACCAAAAAACACACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0095 a0001c0001t0005g0095	1	412	0.0024	29	c.573 others(46): Show c.573-1907_573-1906insGTTTTTTTTTTTGTGTGTTTTTTGGTGT T		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	6/6						chr13	TogoVar
C15orf39_chr15_75196882_75217169	75202621	G G	GCCGCCCC others(22): Show GCCGCCCCTGTTCCGGGACCTCCCGCCGGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01891.hp2 HG02109.hp1 others(2): Show HG01255.hp1 HG01891.hp2 HG02109.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	5	344	0.0145	29	c.-51 others(44): Show c.-51+567_-51+595dupCCCTGTTCCGGGACCTCCCGCCGGTCCGC		C15orf39	ENSG00000167173.19	transcript	ENST00000394987.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr15	TogoVar
C16orf46_chr16_81055980_81082238	81080667	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02109.hp2 HG01081.hp1 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0030 a0002c0002t0001g0009 a0002c0002t0001g0030	2	326	0.0061	29	c.-36 others(40): Show c.-3660_-3659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		C16orf46	ENSG00000166455.14	transcript	ENST00000299578.10	protein_coding					3430		chr16	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTTTATAT others(22): Show TTTTATATATATATATATTATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18991.hp1 NA18999.hp2 others(4): Show NA18953.hp1 NA18991.hp1 NA18999.hp2 NA19001.hp2 NA19072.hp2 NA19078.hp2 NA19080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0019 a0003c0003t0001g0182 others(2): Show a0003c0003t0001g0002 a0003c0003t0001g0019 a0003c0003t0001g0182 a0003c0003t0001g0186 a0003c0003t0001g0187	7	288	0.0243	29	c.750 others(44): Show c.750+943_750+944insTTATATATATATATATTATATATATATAT		C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6					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
C17orf98_chr17_38830086_38846438	38845112	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	50	0.0200	29	c.-37 others(40): Show c.-3724_-3723insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		C17orf98	ENSG00000275489.2	transcript	ENST00000614158.2	protein_coding					3675		chr17	TogoVar
C19orf38_chr19_10843415_10874790	10870933	T T	TGGCCCAC others(22): Show TGGCCCACGCCCTTTCCCCCGCCCAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	382	0.0026	29	c.15 others(40): Show c.1566_*1567insGGCCCACGCCCTTTCCCCCGCCCAATCCC		C19orf38	ENSG00000214212.9	transcript	ENST00000397820.5	protein_coding					1144		chr19	TogoVar
C1QTNF1_chr17_79019169_79054788	79043227	T T	TGTGTGCA others(22): Show TGTGTGCATGTGAGTGTGGATTGCATGTAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02109.hp1 HG02258.hp1 others(10): Show HG01106.hp1 HG02109.hp1 HG02258.hp1 HG02572.hp1 HG02886.hp1 HG02895.hp2 HG02976.hp2 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 others(1): Show a0001c0001 a0001c0004 a0001c0008 a0001c0015	a0001c0001t0001 a0001c0004t0008 a0001c0008t0001 others(2): Show a0001c0001t0001 a0001c0004t0008 a0001c0008t0001 a0001c0008t0016 a0001c0015t0005	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(8): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0004t0008g0022 a0001c0004t0008g0023 a0001c0004t0008g0075 a0001c0004t0008g0077 a0001c0008t0001g0073 a0001c0008t0016g0069 a0001c0008t0016g0076 a0001c0015t0005g0074	13	390	0.0333	29	c.-14 others(44): Show c.-14-716_-14-715insGTGTGGATTGCATGTAAGTGTGCATGTGA		C1QTNF1	ENSG00000173918.15	transcript	ENST00000579760.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
C1QTNF9_chr13_24304580_24327531	24309283	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	119	0.0084	29	c.-35 others(38): Show c.-356_-355insATATATATATATATATATATATATATATA		C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding					296		chr13	TogoVar
C1orf127_chr1_10941475_10987076	10951745	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0013 a0005c0008t0004g0013	1	210	0.0048	29	c.110 others(48): Show c.1100-1932_1100-1931insATATATATATATATATATATATTTTT TTT		C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding	10/12						chr1	TogoVar
C1orf159_chr1_1076823_1121089	1076879	G G	GGGGGGAG others(22): Show GGGGGGAGGCTGAGGCTATGGGGACTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	275	0.0036	29	c.60 others(40): Show c.6013_*6014insACGGAGTCCCCATAGCCTCAGCCTCCCCC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4943		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077658	T T	TGCCGGGA others(22): Show TGCCGGGAGGCTGAGGCTATGGGGACTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01074.hp2 HG00673.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0243 a0001c0001t0001g0158 a0001c0001t0001g0243	2	324	0.0062	29	c.52 others(40): Show c.5234_*5235insCGGAGTCCCCATAGCCTCAGCCTCCCGGC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4164		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077868	T T	TGCCGGGA others(22): Show TGCCGGGAGGCTGAGGCTATGGGGACTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02895.hp1 HG03688.hp1 HG00544.hp2 HG02895.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0254 a0001c0001t0001g0308 a0001c0001t0001g0024 a0001c0001t0001g0254 a0001c0001t0001g0308	3	324	0.0093	29	c.50 others(40): Show c.5024_*5025insCGGAGTCCCCATAGCCTCAGCCTCCCGGC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					3954		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077899	G G	GGGGGGAG others(22): Show GGGGGGAGGCTGAGGCTATGGGGACTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	301	0.0033	29	c.49 others(40): Show c.4993_*4994insACGGAGTCCCCATAGCCTCAGCCTCCCCC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					3923		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078681	C C	CGGGAGGC others(22): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	107	0.0093	29	c.42 others(40): Show c.4211_*4212insCCACGGAGTCCCCATAGCCTCAGCCTCCC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					3141		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078919	G G	GGGGGGTG others(22): Show GGGGGGTGGCTGAGGCTATGGGGACTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	322	0.0031	29	c.39 others(40): Show c.3973_*3974insACGGAGTCCCCATAGCCTCAGCCACCCCC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					2903		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1108917	G G	GTTCACCA others(22): Show GTTCACCACAGCCACCATGTCTCAGCACCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0286 a0001c0001t0003g0286	1	324	0.0031	29	c.-13 others(48): Show c.-136+7142_-136+7143insTGGTGCTGAGACATGGTGGCTGTGGT GAA		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	1/9						chr1	TogoVar
C1orf167_chr1_11757193_11794585	11772904	A A	ATTATTAT others(22): Show ATTATTATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00558.hp2 others(75): Show HG00140.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG01081.hp2 HG01099.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03688.hp1 HG04184.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18961.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19010.hp1 NA19057.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19088.hp1 NA20129.hp2	a0001 a0008 a0010 others(11): Show a0001 a0008 a0010 a0011 a0015 a0016 a0017 a0026 a0033 a0034 a0038 a0040 a0043 a0044	a0001c0001 a0001c0045 a0001c0052 others(14): Show a0001c0001 a0001c0045 a0001c0052 a0008c0006 a0010c0011 a0010c0037 a0011c0064 a0015c0012 a0016c0018 a0017c0021 a0026c0027 a0033c0056 a0034c0030 a0038c0034 a0040c0063 a0043c0041 a0044c0055	a0001c0001t0001 a0001c0045t0001 a0001c0052t0001 others(14): Show a0001c0001t0001 a0001c0045t0001 a0001c0052t0001 a0008c0006t0001 a0010c0011t0001 a0010c0037t0001 a0011c0064t0001 a0015c0012t0001 a0016c0018t0001 a0017c0021t0001 a0026c0027t0001 a0033c0056t0001 a0034c0030t0001 a0038c0034t0001 a0040c0063t0001 a0043c0041t0001 a0044c0055t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(69): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0161 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0324 a0001c0045t0001g0249 a0001c0052t0001g0086 a0008c0006t0001g0055 a0008c0006t0001g0078 a0008c0006t0001g0106 a0008c0006t0001g0186 a0008c0006t0001g0206 a0008c0006t0001g0209 a0010c0011t0001g0034 a0010c0011t0001g0135 a0010c0037t0001g0036 a0011c0064t0001g0170 a0015c0012t0001g0018 a0015c0012t0001g0094 a0015c0012t0001g0327 a0015c0012t0001g0328 a0016c0018t0001g0028 a0016c0018t0001g0051 a0016c0018t0001g0155 a0017c0021t0001g0052 a0017c0021t0001g0146 a0017c0021t0001g0154 a0026c0027t0001g0004 a0033c0056t0001g0085 a0034c0030t0001g0076 a0038c0034t0001g0322 a0040c0063t0001g0004 a0043c0041t0001g0288 a0044c0055t0001g0024	78	238	0.3277	29	c.198 others(46): Show c.1988+656_1988+657insATTATTATTATTATTATTTTATTATTAT T		C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding	8/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf50_chr1_42762249_42784491	42775762	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0025 a0001c0001t0048g0025	1	143	0.0070	29	c.36 others(38): Show c.368_*369insATATATATATATATATATATATATATATA		C1orf50	ENSG00000164008.17	transcript	ENST00000372525.7	protein_coding	5/5				369		chr1	TogoVar
C20orf203_chr20_32626625_32678941	32666825	A A	ATATATAT others(22): Show ATATATATATATATATATATATATAGTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0016 a0001c0002t0004g0016	2	358	0.0056	29	c.-26 others(48): Show c.-264+6806_-264+6807insAAAACTATATATATATATATATATAT ATA		C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	1/5						chr20	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
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA19089.hp2 NA18969.hp1 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0205 a0002c0002t0001g0169 a0002c0002t0001g0205	2	172	0.0116	29	c.35 others(40): Show c.3564_*3565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding					2695		chr21	TogoVar
C22orf42_chr22_32144006_32164303	32146653	A A	ATAGATTA others(22): Show ATAGATTATATATAGTATATAATATAGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0033 a0003c0003t0002g0033	1	391	0.0026	29	c.28 others(40): Show c.2886_*2887insAATCTATATTATATACTATATATAATCTA		C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding					2352		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0008 a0002c0004t0003g0008	1	114	0.0088	29	c.16 others(40): Show c.1637_*1638insAAATATATATATATATATATATATATATA		C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding					1103		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02683.hp1 NA19002.hp2 HG02622.hp2 HG02683.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0018 a0001c0001 a0001c0002 a0002c0018	a0001c0001t0002 a0001c0002t0003 a0002c0018t0005 a0001c0001t0002 a0001c0002t0003 a0002c0018t0005	a0001c0001t0002g0296 a0001c0002t0003g0014 a0002c0018t0005g0252 a0001c0001t0002g0296 a0001c0002t0003g0014 a0002c0018t0005g0252	3	241	0.0124	29	c.280 others(46): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAGAGA G		C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13						chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCC others(22): Show TTCTCTCCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0136 a0001c0002t0002g0136	1	239	0.0042	29	c.280 others(46): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGGAGAG A		C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13						chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01978.hp1 HG02895.hp2 others(1): Show HG01099.hp2 HG01978.hp1 HG02895.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 a0001c0014t0005	a0001c0001t0036g0356 a0001c0002t0001g0120 a0001c0002t0002g0013 others(1): Show a0001c0001t0036g0356 a0001c0002t0001g0120 a0001c0002t0002g0013 a0001c0014t0005g0243	4	119	0.0336	29	c.280 others(46): Show c.280-4893_280-4892insGAGAGAGAGAGAGAGAGAGAGAGAGAGA G		C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13						chr21	TogoVar
C2CD4C_chr19_400445_414147	400497	C C	CCCCAGGC others(22): Show CCCCAGGCCCACCCTCACTCTTCCAGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp2 HG02886.hp1 others(3): Show HG01981.hp1 HG01981.hp2 HG02886.hp1 HG03139.hp2 NA19064.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0036 a0001c0001t0042 others(2): Show a0001c0001t0015 a0001c0001t0036 a0001c0001t0042 a0001c0001t0135 a0001c0001t0137	a0001c0001t0015g0010 a0001c0001t0036g0086 a0001c0001t0042g0035 others(2): Show a0001c0001t0015g0010 a0001c0001t0036g0086 a0001c0001t0042g0035 a0001c0001t0135g0108 a0001c0001t0137g0110	6	241	0.0249	29	c.65 others(40): Show c.6598_*6599insAACCCTGGAAGAGTGAGGGTGGGCCTGGG		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					4947		chr19	TogoVar
C2CD4C_chr19_400445_414147	400522	G G	GCGGTTCC others(22): Show GCGGTTCCCAGGCCCACCCTCACTCTTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0067 a0001c0002t0067	a0001c0002t0067g0128 a0001c0002t0067g0128	1	319	0.0031	29	c.65 others(40): Show c.6573_*6574insTGGAAGAGTGAGGGTGGGCCTGGGAACCG		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					4922		chr19	TogoVar
C2CD4C_chr19_400445_414147	400549	C C	CCAGGGTT others(22): Show CCAGGGTTCCCAGGCCCACCCTCACTCTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0026 a0001c0002t0019g0026	1	312	0.0032	29	c.65 others(40): Show c.6546_*6547insCAAGAGTGAGGGTGGGCCTGGGAACCCTG		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					4895		chr19	TogoVar
C2CD4C_chr19_400445_414147	400860	C C	CCACCCTC others(22): Show CCACCCTCACTCTTCCAGGGTTCCCAGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0095 a0001c0001t0116g0095	1	228	0.0044	29	c.62 others(40): Show c.6235_*6236insTGCCTGGGAACCCTGGAAGAGTGAGGGTG		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					4584		chr19	TogoVar
C2CD4C_chr19_400445_414147	404348	G G	GGGGGGAC others(22): Show GGGGGGACGGGGTCCTGCCCTGAGGGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0098 a0001c0001t0019g0098	1	305	0.0033	29	c.27 others(40): Show c.2747_*2748insACACCCCTCAGGGCAGGACCCCGTCCCCC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1096		chr19	TogoVar
C2CD4C_chr19_400445_414147	404898	G G	GGGGGGAC others(22): Show GGGGGGACGGGGTCCTGCCCTGAGGGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0165 a0001c0001t0117g0165	1	270	0.0037	29	c.21 others(40): Show c.2197_*2198insACACCCCTCAGGGCAGGACCCCGTCCCCC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					546		chr19	TogoVar
C2CD4C_chr19_400445_414147	404993	G G	GGGGGGAC others(22): Show GGGGGGACGGGGTCCTGCCCTGAGGGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02895.hp2 NA20129.hp2 HG02630.hp2 HG02895.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0019 a0001c0001t0019 a0001c0002t0019	a0001c0001t0019g0098 a0001c0002t0019g0026 a0001c0001t0019g0098 a0001c0002t0019g0026	3	298	0.0101	29	c.21 others(40): Show c.2102_*2103insACACCCCTCAGGGCAGGACCCCGTCCCCC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					451		chr19	TogoVar
C2orf50_chr2_11128128_11156317	11155285	G G	GGGGGCGG others(22): Show GGGGGCGGGGCGGGCCCGGGCGGGAGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02080.hp2 HG02257.hp1 others(11): Show HG00639.hp2 HG02080.hp2 HG02257.hp1 HG02257.hp2 HG02818.hp1 HG02965.hp1 HG03041.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0047 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0003c0002t0064 a0003c0002t0065 a0003c0002t0066	a0001c0001t0001g0003 a0001c0001t0007g0010 a0001c0001t0007g0037 others(11): Show a0001c0001t0001g0003 a0001c0001t0007g0010 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0183 a0001c0001t0007g0185 a0001c0001t0007g0199 a0001c0001t0007g0204 a0001c0001t0047g0037 a0001c0001t0048g0192 a0001c0001t0049g0038 a0003c0002t0064g0062 a0003c0002t0065g0061 a0003c0002t0066g0063	14	328	0.0427	29	c.11 others(42): Show c.11174_*11175insGGGGCGGGGCGGGCCCGGGCGGGAGGGGC		C2orf50	ENSG00000150873.12	transcript	ENST00000381585.8	protein_coding					3969		chr2	TogoVar
C2orf69_chr2_199906293_199933273	199922031	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0194 a0003c0004t0007g0194	1	63	0.0159	29	c.334 others(46): Show c.334-3031_334-3030insATATATATATATATATATATATATATAT A		C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1						chr2	TogoVar
C3orf70_chr3_185071838_185158060	185073970	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0212 a0001c0001t0008g0212	1	125	0.0080	29	c.90 others(40): Show c.9036_*9037insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding					2867		chr3	TogoVar
C3orf70_chr3_185071838_185158060	185146025	A A	ATCTCTGG others(22): Show ATCTCTGGAAGAACCTATCAGCTTTCTCTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0360 a0001c0001t0089g0360	1	386	0.0026	29	c.196 others(46): Show c.196+6574_196+6602dupCAGAGAAAGCTGATAGGTTCTTCCAGAG A		C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1						chr3	TogoVar
C4orf19_chr4_37448925_37598510	37508683	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01192.hp1 HG01346.hp1 others(12): Show HG01168.hp1 HG01192.hp1 HG01346.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp1 HG02148.hp1 HG02165.hp1 HG03490.hp1 NA18968.hp1 NA18978.hp1 NA18992.hp1 NA19080.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0002c0002t0004	a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0025 others(12): Show a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0097 a0001c0001t0002g0074 a0001c0001t0003g0084 a0001c0001t0006g0061 a0001c0001t0006g0063 a0001c0001t0006g0283 a0002c0002t0004g0023 a0002c0002t0004g0167 a0002c0002t0004g0214	15	154	0.0974	29	c.-72 others(48): Show c.-72-49336_-72-49335insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585271	G G	GAGGAGGG others(22): Show GAGGAGGGGAGATCAGAGGTGTTGAGGGAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03491.hp2 HG02723.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0006 a0001c0001t0013	a0001c0001t0006g0038 a0001c0001t0013g0051 a0001c0001t0006g0038 a0001c0001t0013g0051	2	350	0.0057	29	c.-22 others(46): Show c.-22-3575_-22-3574insAGGAGGGGAGATCAGAGGTGTTGAGGGA A		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3						chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585378	G G	GTTGAGGG others(22): Show GTTGAGGGAGGGGAGGGTAGAGGAGAGGTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0054 a0001c0001t0009g0054	1	320	0.0031	29	c.-22 others(46): Show c.-22-3452_-22-3451insTAGAGGAGAGGTATTGAGGGAGGGGAGG G		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585402	G G	GAGATGTT others(22): Show GAGATGTTGAGGGAGGGGAGGGGAGAGGAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	300	0.0033	29	c.-22 others(46): Show c.-22-3442_-22-3441insATGTTGAGGGAGGGGAGGGGAGAGGAAA G		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585445	G G	GAGGAGGG others(22): Show GAGGAGGGGAGATCAGAGGTGTTGAGGGAA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0318 a0001c0001t0007g0318	1	297	0.0034	29	c.-22 others(46): Show c.-22-3401_-22-3400insAGGAGGGGAGATCAGAGGTGTTGAGGGA A		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3						chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585460	G G	GAGATGTT others(22): Show GAGATGTTGAGGGAGGGGAGGGGAGAGGAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	341	0.0029	29	c.-22 others(46): Show c.-22-3384_-22-3383insATGTTGAGGGAGGGGAGGGGAGAGGAAA G		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585467	T T	TGAGGGAG others(22): Show TGAGGGAGGGGAGGGGAGAGGAGAGACATC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0219 a0001c0001t0006g0219	1	325	0.0031	29	c.-22 others(46): Show c.-22-3365_-22-3364insGAGAGGAGAGACATCGAGGGAGGGGAGG G		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585489	G G	GAGATGTT others(22): Show GAGATGTTGAGGGAGGGGAGGGGAGAGGAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	294	0.0034	29	c.-22 others(46): Show c.-22-3355_-22-3354insATGTTGAGGGAGGGGAGGGGAGAGGAAA G		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585492	G G	ATGTTGAG others(22): Show ATGTTGAGGGAGGGGAGGGGAGAGGAAAGG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0215 a0003c0003t0005g0215	1	334	0.0030	29	c.-22 others(46): Show c.-22-3355_-22-3354insATGTTGAGGGAGGGGAGGGGAGAGGAAA G		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3						chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585505	G G	GGAGGGGA others(22): Show GGAGGGGAGAGGAGAGGTGTTGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0087 a0001c0001t0001g0088	2	343	0.0058	29	c.-22 others(46): Show c.-22-3327_-22-3326insGGTGTTGAGGAAGGAGAGGGGAGAGGAG A		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585521	A A	ATATCGAG others(22): Show ATATCGAGGGAGGGGAGGGGAGAGGAGAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02165.hp2 NA18952.hp2 others(6): Show HG00408.hp1 HG02165.hp2 NA18952.hp2 NA18977.hp1 NA18983.hp1 NA18995.hp1 NA19070.hp1 NA19070.hp2 NA19083.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0004 a0002c0002t0045 others(2): Show a0001c0001t0001 a0002c0002t0004 a0002c0002t0045 a0003c0003t0005 a0003c0003t0029	a0001c0001t0001g0044 a0001c0001t0001g0134 a0001c0001t0001g0229 others(6): Show a0001c0001t0001g0044 a0001c0001t0001g0134 a0001c0001t0001g0229 a0002c0002t0004g0316 a0002c0002t0004g0329 a0002c0002t0045g0143 a0003c0003t0005g0154 a0003c0003t0005g0199 a0003c0003t0029g0200	9	150	0.0600	29	c.-22 others(46): Show c.-22-3324_-22-3323insATCGAGGGAGGGGAGGGGAGAGGAGAGG T		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr4	TogoVar

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