Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAMKMT_chr2_44356947_44777592	44589118	C C	CGTCCGGG others(37): Show CGTCCGGGAGGGAGGCGCGAGGGGGGGGGGTCGGCCAGCCGCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	187	0.0053	44	c.377 others(65): Show c.377-115162_377-115161insCGGGAGGGAGGCGCGAGGGGGGGG GGTCGGCCAGCCGCCCTGTC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	13	0.0769	44	c.438 others(63): Show c.438+26678_438+26679insATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(37): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0030 a0001c0002t0004g0030	1	13	0.0769	44	c.438 others(63): Show c.438+26678_438+26679insATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7594117	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02257.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0006 a0001c0002t0003g0025 a0001c0001t0001g0006 a0001c0002t0003g0025	2	47	0.0426	44	c.511 others(63): Show c.511-46259_511-46258insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPG_chr2_85389753_85415366	85397704	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0078 a0003c0006t0001g0078	1	324	0.0031	44	c.892 others(59): Show c.892+315_892+316insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	CAPG	ENSG00000042493.16	transcript	ENST00000263867.9	protein_coding	8/9			chr2	TogoVar
CAPZA1_chr1_112614832_112676616	112643869	C C	CAGTCTCT others(37): Show CAGTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	365	0.0027	44	c.40- others(59): Show c.40-3335_40-3334insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTC	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02273.hp1 HG03041.hp2 others(2): Show HG01943.hp2 HG02273.hp1 HG03041.hp2 HG03516.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0148 a0001c0001t0001g0162 others(2): Show a0001c0001t0001g0131 a0001c0001t0001g0148 a0001c0001t0001g0162 a0001c0001t0001g0180 a0001c0001t0001g0357	5	199	0.0251	44	c.330 others(61): Show c.330-8721_330-8720insATATATATATATATATATATATATATAT ATATATATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366307	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0281 a0001c0002t0003g0281	1	338	0.0030	44	c.330 others(61): Show c.330-8745_330-8744insTTATTTATATATATATATATATATATAT ATATATATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	2909610	T T	TCAGCCTC others(37): Show TCAGCCTCTCACCCCTCTGTCCCTCACCCTCTGCCCCTCACTCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG02647.hp2 others(3): Show HG02055.hp2 HG02630.hp1 HG02647.hp2 HG03195.hp1 HG03516.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0018 a0001c0044 others(2): Show a0001c0003 a0001c0018 a0001c0044 a0003c0035 a0003c0062	a0001c0003t0001 a0001c0018t0001 a0001c0044t0003 others(2): Show a0001c0003t0001 a0001c0018t0001 a0001c0044t0003 a0003c0035t0003 a0003c0062t0003	a0001c0003t0001g0004 a0001c0018t0001g0059 a0001c0018t0001g0060 others(3): Show a0001c0003t0001g0004 a0001c0018t0001g0059 a0001c0018t0001g0060 a0001c0044t0003g0267 a0003c0035t0003g0317 a0003c0062t0003g0312	6	193	0.0311	44	c.326 others(61): Show c.3260+439_3260+440insGGGAGTGAGGGGCAGAGGGTGAGGGACA GAGGGGTGAGAGGCTG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD19_chr9_93091217_93118283	93115799	A A	AGGGGGTG others(37): Show AGGGGGTGAGAGACGGGTGAAGGAGGGAGGGGGTGAGGGAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	352	0.0028	44	c.26 others(55): Show c.2692_*2693insGGGGGTGAGAGACGGGTGAAGGAGGGAGGGGGTG AGGGAGGGGT	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2517		chr9	TogoVar
CARMIL1_chr6_25274374_25625530	25313683	G G	GCATATAT others(37): Show GCATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp2 HG02145.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0018 a0001c0001t0001 a0001c0004t0018	a0001c0001t0001g0087 a0001c0004t0018g0122 a0001c0001t0001g0087 a0001c0004t0018g0122	2	111	0.0180	44	c.138 others(63): Show c.138+28774_138+28775insCATATATATATATATATATATATATA TATATATATATATATATA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCCTCC others(37): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	268	0.0037	44	c.802 others(61): Show c.802-2597_802-2554dupGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(37): Show TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02897.hp2 HG00741.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0236 a0001c0001t0001g0208 a0001c0001t0001g0236	2	269	0.0074	44	c.802 others(61): Show c.802-2554_802-2553insGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(37): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	268	0.0037	44	c.802 others(61): Show c.802-2554_802-2553insGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS1_chr11_2995929_3062423	3032060	C C	CTCCCTCC others(37): Show CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	269	0.0037	44	c.802 others(61): Show c.802-2618_802-2617insAGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CASC3_chr17_40135537_40177171	40140357	C C	CACACACC others(37): Show CACACACCAACACACACACCAACACACACACACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	262	0.0038	44	c.-19 others(53): Show c.-192_-191insACACACCAACACACACACCAACACACACACACACAC ACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		179		chr17	TogoVar
CASR_chr3_122178668_122296629	122252407	G G	GTAGGAAG others(37): Show GTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02647.hp2 HG03490.hp1 HG02148.hp1 HG02647.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0030 a0001c0001t0003g0120 a0001c0001t0005g0133 a0001c0001t0003g0030 a0001c0001t0003g0120 a0001c0001t0005g0133	3	232	0.0129	44	c.-24 others(63): Show c.-242-1541_-242-1540insTAGGAAGGAAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAAAA others(37): Show AGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAACAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0270 a0001c0001t0013g0270	1	39	0.0256	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGAAAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAACAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(37): Show AGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0279 a0002c0002t0002g0279	1	39	0.0256	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGAAGGAAAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAAAAGAAAGAAAGAAAAAGAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0244 a0002c0002t0002g0244	1	39	0.0256	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGAAGGAAGGAAAAAGAAAGAAAGAA AAAGAAAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0227 a0002c0002t0002g0227	1	39	0.0256	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAAAAGAAAGAA AGAAAAAGAAAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0240 a0002c0002t0002g0240	1	39	0.0256	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAGGAAAAAGAA AGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(37): Show AGGAAGGAAGGTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02622.hp1 HG02818.hp1 HG01256.hp2 HG02622.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0117 a0001c0001t0003g0266 a0001c0001t0007g0174 a0001c0001t0001g0117 a0001c0001t0003g0266 a0001c0001t0007g0174	3	41	0.0732	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGAAGGAAGGTAGGAAGGAAAAAGAA AGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGT others(37): Show AGGAAGGTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01256.hp1 HG01258.hp2 others(1): Show HG00733.hp1 HG01256.hp1 HG01258.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0137 a0001c0001t0003g0016 a0001c0001t0013g0004 a0001c0001t0001g0137 a0001c0001t0003g0016 a0001c0001t0013g0004	4	42	0.0952	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGAAGGTAGGAAGGAAAAAGAAAGAA AGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGTAGGA others(37): Show AGGTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02074.hp2 HG02723.hp1 others(2): Show HG00642.hp2 HG02074.hp2 HG02723.hp1 HG03831.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0037 others(1): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0037 a0001c0001t0040	a0001c0001t0010g0132 a0001c0001t0013g0126 a0001c0001t0013g0127 others(2): Show a0001c0001t0010g0132 a0001c0001t0013g0126 a0001c0001t0013g0127 a0001c0001t0037g0136 a0001c0001t0040g0265	5	43	0.1163	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGTAGGAAGGAAAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(37): Show ACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp2 HG03041.hp2 HG02622.hp2 HG02886.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0087 a0001c0001t0019 a0001c0001t0087	a0001c0001t0019g0026 a0001c0001t0019g0027 a0001c0001t0087g0024 a0001c0001t0019g0026 a0001c0001t0019g0027 a0001c0001t0087g0024	3	89	0.0337	44	c.113 others(59): Show c.113+785_113+786insACACACACACTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACTC others(37): Show ACACACTCACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 NA19030.hp1 HG01891.hp1 HG02109.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0031 a0001c0001t0003 a0001c0001t0031	a0001c0001t0003g0163 a0001c0001t0003g0166 a0001c0001t0031g0167 a0001c0001t0003g0163 a0001c0001t0003g0166 a0001c0001t0031g0167	3	89	0.0337	44	c.113 others(59): Show c.113+785_113+786insACACTCACTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTGTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACTCAC others(37): Show ACACTCACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0080 a0001c0001t0078g0080	1	87	0.0115	44	c.113 others(59): Show c.113+785_113+786insACTCACTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTGTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965885	C C	CACTCTCT others(37): Show CACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01257.hp2 HG01496.hp2 others(6): Show HG00609.hp1 HG01257.hp2 HG01496.hp2 HG02040.hp1 HG02055.hp1 HG03831.hp1 NA18612.hp1 NA19066.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0062 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0062 a0001c0001t0068	a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0120 others(6): Show a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0148 a0001c0001t0002g0109 a0001c0001t0002g0152 a0001c0001t0062g0141 a0001c0001t0068g0124	9	105	0.0857	44	c.113 others(59): Show c.113+787_113+788insACTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTGTCTG	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8			chr7	TogoVar
CASZ1_chr1_10631604_10801646	10743417	A A	AGGAGAGC others(37): Show AGGAGAGCCCTGGGAGAGCCCTGGGAGAGCCCTGGGAGAGCCCTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	227	0.0044	44	c.-77 others(63): Show c.-77+17283_-77+17284insCAGGGCTCTCCCAGGGCTCTCCCAGG GCTCTCCCAGGGCTCTCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744731	C C	CACCACGA others(37): Show CACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG01891.hp2 others(9): Show HG00735.hp1 HG01884.hp2 HG01891.hp2 HG02717.hp2 HG02970.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG04115.hp2 NA18966.hp2 NA19043.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0004c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0001c0002t0024 a0001c0002t0025 a0001c0002t0028 a0001c0003t0002 a0001c0003t0004 a0001c0012t0001 a0004c0005t0001	a0001c0001t0001g0141 a0001c0001t0007g0221 a0001c0001t0008g0037 others(9): Show a0001c0001t0001g0141 a0001c0001t0007g0221 a0001c0001t0008g0037 a0001c0002t0002g0140 a0001c0002t0004g0150 a0001c0002t0024g0156 a0001c0002t0025g0147 a0001c0002t0028g0012 a0001c0003t0002g0229 a0001c0003t0004g0168 a0001c0012t0001g0172 a0004c0005t0001g0146	12	197	0.0609	44	c.-77 others(63): Show c.-77+15969_-77+15970insAGGACATGCCTGCTCGTGGTGCCCAG GACATGCCTGCTCGTGGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CATSPER4_chr1_26185602_26207964	26206481	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG01123.hp1 others(13): Show HG00621.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG02040.hp1 HG02155.hp1 HG02717.hp1 HG02886.hp2 HG02922.hp1 NA18612.hp2 NA18979.hp2 NA19002.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0010 a0002c0002 others(1): Show a0001c0001 a0001c0010 a0002c0002 a0007c0012	a0001c0001t0002 a0001c0010t0002 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0010t0002 a0002c0002t0002 a0002c0002t0006 a0007c0012t0001	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0007 others(8): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0039 a0001c0001t0002g0137 a0001c0001t0002g0149 a0001c0010t0002g0005 a0002c0002t0002g0003 a0002c0002t0002g0012 a0002c0002t0006g0129 a0007c0012t0001g0028	16	208	0.0769	44	c.39 others(55): Show c.3939_*3940insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		3518		chr1	TogoVar
CATSPERD_chr19_5715637_5783734	5733307	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	316	0.0032	44	c.277 others(59): Show c.277-521_277-520insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	46	0.0217	44	c.142 others(63): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT ATATATATTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBARP_chr19_1223287_1243005	1234183	G G	GGCGAGGA others(37): Show GGCGAGGAGCCTTCTAGACACGCACCTCCTTTTCTCTGCAAACCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp1 HG02896.hp1	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0002 a0012c0028t0002	a0012c0028t0002g0079 a0012c0028t0002g0079	1	406	0.0025	44	c.768 others(55): Show c.768+7_768+8insGGGTTTGCAGAGAAAAGGAGGTGCGTGTCTAGAA GGCTCCTCGC	CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	7/9			chr19	TogoVar
CBFA2T2_chr20_33485096_33655030	33545439	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0012	1	176	0.0057	44	c.34+ others(61): Show c.34+55172_34+55173insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88932156	G G	GCCCCTCA others(37): Show GCCCCTCACACGGCCCCCGCTTCCCCCTCACACGGCCCCCGCTTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02886.hp2 HG03098.hp1 HG01123.hp1 HG02886.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0164 a0001c0002t0001g0102 a0001c0002t0001g0114 a0001c0001t0001g0164 a0001c0002t0001g0102 a0001c0002t0001g0114	3	261	0.0115	44	c.152 others(63): Show c.152-30501_152-30500insGAAGCGGGGGCCGTGTGAGGGGGAAG CGGGGGCCGTGTGAGGGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88932166	C C	CGGCCCCC others(37): Show CGGCCCCCGCTTCCCCCTCACACGGCCCCCGCTTCCCCCTCACAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	282	0.0035	44	c.152 others(63): Show c.152-30511_152-30510insATGTGAGGGGGAAGCGGGGGCCGTGT GAGGGGGAAGCGGGGGCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBR1_chr21_36065024_36078164	36074903	A A	AGGGGGGG others(37): Show AGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	44	c.20 others(55): Show c.2021_*2022insGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGG GGGGGGGGGG	CBR1	ENSG00000159228.13	transcript	ENST00000290349.11	protein_coding		1740		chr21	TogoVar
CCBE1_chr18_59425939_59702423	59573284	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19083.hp1 HG02165.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0031 a0001c0003t0001g0157 a0001c0001t0001g0031 a0001c0003t0001g0157	2	36	0.0556	44	c.213 others(63): Show c.213-93047_213-93046insATATATATATATATATATATATATAT ATATATATATATATATAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC105_chr19_15005726_15028276	15018732	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01099.hp2 others(12): Show HG00140.hp2 HG00741.hp1 HG01099.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01981.hp1 HG02109.hp1 HG02165.hp1 HG02717.hp2 HG03139.hp2 HG03688.hp1 NA18612.hp2 NA18974.hp1 NA19054.hp1	a0001 a0005 a0007 others(2): Show a0001 a0005 a0007 a0009 a0010	a0001c0001 a0001c0004 a0005c0005 others(3): Show a0001c0001 a0001c0004 a0005c0005 a0007c0009 a0009c0010 a0010c0013	a0001c0001t0001 a0001c0004t0001 a0005c0005t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0005c0005t0001 a0007c0009t0001 a0009c0010t0001 a0010c0013t0001	a0001c0001t0001g0047 a0001c0001t0001g0277 a0001c0001t0001g0285 others(12): Show a0001c0001t0001g0047 a0001c0001t0001g0277 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0004t0001g0055 a0001c0004t0001g0073 a0001c0004t0001g0082 a0001c0004t0001g0083 a0001c0004t0001g0092 a0001c0004t0001g0102 a0005c0005t0001g0047 a0007c0009t0001g0137 a0009c0010t0001g0180 a0009c0010t0001g0181 a0010c0013t0001g0226	15	310	0.0484	44	c.676 others(61): Show c.676-1729_676-1728insTATATATATATATATATATATATATATA TATATATATATATATT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6			chr19	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	43	0.0233	44	c.97- others(61): Show c.97-10734_97-10733insATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	43	0.0233	44	c.97- others(61): Show c.97-10734_97-10733insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC13_chr3_42700756_42778253	42743600	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA20300.hp2 HG02886.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0010 a0001c0005t0018g0010	2	200	0.0100	44	c.826 others(59): Show c.826-544_826-543insGTATGTATATATATATATATATATATATAT ATATATATATATAT	CCDC13	ENSG00000244607.7	transcript	ENST00000310232.11	protein_coding	7/15			chr3	TogoVar
CCDC141_chr2_178824757_179055137	179015338	T T	TCATATAT others(37): Show TCATATATGTATCATACATATCTCATATATGTATCATACATATCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0005 a0007c0015t0005	a0007c0015t0005g0239 a0007c0015t0005g0239	1	266	0.0038	44	c.225 others(63): Show c.225+31945_225+31946insGGATATGTATGATACATATATGAGAT ATGTATGATACATATATG	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC141_chr2_178824757_179055137	179015558	C C	CTCATATA others(37): Show CTCATATATATGATATATATATCTCATATATCTCATATATATGAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0153 a0001c0001t0057g0153	1	218	0.0046	44	c.225 others(63): Show c.225+31725_225+31726insATCATATATATGAGATATATGAGATA TATATATCATATATATGA	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158433091	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0249 a0001c0010t0005g0249	1	66	0.0152	44	c.25+ others(61): Show c.25+23323_25+23324insATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158433091	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	66	0.0152	44	c.25+ others(61): Show c.25+23323_25+23324insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158433261	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	201	0.0050	44	c.25+ others(61): Show c.25+23153_25+23154insATATATATATATATATATATATATATAT ATATATATATATATAT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC150_chr2_196634715_196737801	196721361	T T	TATATATG others(37): Show TATATATGTGTATATATATATATATATATATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01069.hp1 others(22): Show HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01891.hp2 HG02451.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp2 HG03225.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 NA18939.hp2 NA18946.hp2 NA18981.hp2 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 others(18): Show a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047	25	82	0.3049	44	c.226 others(61): Show c.2260-155_2260-154insGTGTATATATATATATATATATATATAT ACATATATACATATAT	CCDC150	ENSG00000144395.18	transcript	ENST00000389175.9	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr2	TogoVar

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