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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RCSD1_chr1_167625232_167713696	167630721	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01981.hp1 HG02602.hp1 others(4): Show HG00099.hp1 HG01981.hp1 HG02602.hp1 HG02738.hp2 HG04199.hp2 NA18949.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(4): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0002g0045	7	350	0.0200	15	c.6+3 others(26): Show c.6+310_6+324dupAAAAAAAAAAAAAAA	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCSD1_chr1_167625232_167713696	167701317	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18961.hp2 HG00140.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0049 a0001c0001t0002 a0001c0001t0049	a0001c0001t0002g0209 a0001c0001t0049g0211 a0001c0001t0002g0209 a0001c0001t0049g0211	2	350	0.0057	15	c.121 others(34): Show c.1219-3345_1219-3344insCTTTCTTTCTTTCTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RD3L_chr14_103935426_103947529	103939743	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02602.hp2 HG02615.hp1 others(11): Show HG02040.hp2 HG02602.hp2 HG02615.hp1 HG02818.hp2 HG02976.hp1 NA18612.hp1 NA18747.hp1 NA18952.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA19060.hp1 NA19067.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0009 a0001c0001t0001g0001 a0001c0001t0005g0009	14	440	0.0318	15	c.10 others(26): Show c.1048_*1062dupAAAAAAAAAAAAAAA	RD3L	ENSG00000227729.5	transcript	ENST00000557640.2	protein_coding		682		chr14	TogoVar
RDH13_chr19_55039316_55068148	55063061	A A	AGGCGTCA others(8): Show AGGCGTCAGGCGTCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0187 a0001c0002t0035g0187	1	377	0.0027	15	c.-30 others(22): Show c.-30_-29insCGGACGCCTGACGCC	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding	1/7	30		chr19	TogoVar
RDX_chr11_110224441_110301614	110265097	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0274 a0001c0001t0010g0274	1	376	0.0027	15	c.97- others(28): Show c.97-238_97-224dupAAACAAAAAAAAAAA	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	3/13			chr11	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp1 NA18961.hp1 others(1): Show HG02257.hp1 HG03225.hp1 NA18961.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 others(1): Show a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191	4	376	0.0106	15	c.-65 others(32): Show c.-65+6496_-65+6510dupTTTTTTTTTTTTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
REC114_chr15_73438164_73565013	73462884	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02895.hp2 HG03516.hp2 others(2): Show HG02109.hp2 HG02895.hp2 HG03516.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 others(2): Show a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0002g0162 a0002c0002t0002g0181	5	188	0.0266	15	c.160 others(34): Show c.160-10939_160-10925dupAAAAAAAAAAAAAAA	REC114	ENSG00000183324.11	transcript	ENST00000331090.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
RECK_chr9_36031913_36129455	36082152	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18522.hp2 HG04199.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0321 a0002c0003t0001g0258 a0001c0001t0001g0321 a0002c0003t0001g0258	2	392	0.0051	15	c.440 others(32): Show c.440-1213_440-1212insCTCTCTCTCTCTCTC	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	7/20			chr9	TogoVar
RECK_chr9_36031913_36129455	36104327	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	392	0.0026	15	c.143 others(32): Show c.1436-816_1436-815insATATATATATATATA	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20			chr9	TogoVar
RECQL_chr12_21463910_21506635	21501501	G G	GGTGTCCG others(8): Show GGTGTCCGACTGTCCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0053 a0001c0002t0029g0053	1	404	0.0025	15	c.-39 others(24): Show c.-392_-378dupAGGACAGTCGGACAC	RECQL	ENSG00000004700.16	transcript	ENST00000444129.7	protein_coding	1/15	1932		chr12	TogoVar
REEP1_chr2_86208993_86342626	86226075	T T	TCACCACC others(8): Show TCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03239.hp2 HG04199.hp1 others(2): Show HG00140.hp1 HG03239.hp2 HG04199.hp1 NA19030.hp1 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0010 a0001c0001 a0001c0002 a0006c0010	a0001c0001t0003 a0001c0001t0031 a0001c0002t0010 others(1): Show a0001c0001t0003 a0001c0001t0031 a0001c0002t0010 a0006c0010t0003	a0001c0001t0003g0139 a0001c0001t0003g0316 a0001c0001t0031g0089 others(2): Show a0001c0001t0003g0139 a0001c0001t0003g0316 a0001c0001t0031g0089 a0001c0002t0010g0232 a0006c0010t0003g0114	5	320	0.0156	15	c.631 others(32): Show c.631+1273_631+1287dupGTGGTGGTGGTGGTG	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	7/8			chr2	TogoVar
REEP1_chr2_86208993_86342626	86342181	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02257.hp1 others(16): Show HG01884.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 NA19030.hp1 NA19043.hp2 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0004c0011	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(6): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0022 a0001c0002t0002 a0003c0005t0006 a0004c0011t0044	a0001c0001t0003g0050 a0001c0001t0003g0056 a0001c0001t0003g0139 others(16): Show a0001c0001t0003g0050 a0001c0001t0003g0056 a0001c0001t0003g0139 a0001c0001t0003g0302 a0001c0001t0006g0046 a0001c0001t0006g0158 a0001c0001t0008g0047 a0001c0001t0009g0280 a0001c0001t0009g0282 a0001c0001t0009g0283 a0001c0001t0009g0285 a0001c0001t0009g0292 a0001c0001t0011g0121 a0001c0001t0022g0048 a0001c0002t0002g0124 a0001c0002t0002g0125 a0003c0005t0006g0154 a0003c0005t0006g0159 a0004c0011t0044g0287	19	320	0.0594	15	c.-46 others(26): Show c.-4672_-4671insAAAAAAAAAAAAAAA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding		4556		chr2	TogoVar
REEP3_chr10_63516401_63630128	63589785	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp1 HG03139.hp1 others(1): Show HG01081.hp1 HG02257.hp1 HG03139.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0038 a0001c0001t0014 a0001c0001t0038	a0001c0001t0014g0001 a0001c0001t0014g0009 a0001c0001t0014g0010 others(1): Show a0001c0001t0014g0001 a0001c0001t0014g0009 a0001c0001t0014g0010 a0001c0001t0038g0001	4	284	0.0141	15	c.106 others(32): Show c.106-4981_106-4967dupTTTTTTTTTTTTTTT	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP3_chr10_63516401_63630128	63622705	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp2 HG03540.hp1 NA18522.hp1 HG01433.hp2 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070	a0001c0001t0068g0091 a0001c0001t0069g0201 a0001c0001t0070g0205 a0001c0001t0068g0091 a0001c0001t0069g0201 a0001c0001t0070g0205	3	284	0.0106	15	c.18 others(26): Show c.1842_*1856dupTTTTTTTTTTTTTTT	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	8/8	1857	INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP4_chr8_22133020_22146907	22139618	A A	ACCCAGCC others(8): Show ACCCAGCCCAGCCCAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	400	0.0025	15	c.304 others(29): Show c.304-104_304-90dupCTGGGCTGGGCTGGG	REEP4	ENSG00000168476.12	transcript	ENST00000306306.8	protein_coding	4/7			chr8	TogoVar
REEP6_chr19_1486181_1502927	1490893	G G	GCCCCCCC others(8): Show GCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA19030.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0056 a0001c0001t0002g0061	2	318	0.0063	15	c.-37 others(24): Show c.-377_-376insCCCCCCCCCCCCCCC	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		287		chr19	TogoVar
RELL1_chr4_37605634_37691376	37612636	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0254 a0001c0001t0037g0254	1	324	0.0031	15	c.69 others(24): Show c.695_*709dupTTTTTTTTTTTTTTT	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	7/7	18751		chr4	TogoVar
RELN_chr7_103466789_103994658	103518505	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA20300.hp1 HG03471.hp1 NA20300.hp1	a0004 a0038 a0004 a0038	a0004c0017 a0038c0075 a0004c0017 a0038c0075	a0004c0017t0001 a0038c0075t0001 a0004c0017t0001 a0038c0075t0001	a0004c0017t0001g0122 a0038c0075t0001g0127 a0004c0017t0001g0122 a0038c0075t0001g0127	2	184	0.0109	15	c.786 others(32): Show c.7862+817_7862+818insAAAAAAAAAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	49/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103694467	A A	AGATGATG others(8): Show AGATGATGATGATGAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02896.hp1 HG03041.hp2 others(2): Show HG01891.hp1 HG02896.hp1 HG03041.hp2 HG03098.hp1 HG03579.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0021 a0024	a0001c0020 a0002c0010 a0005c0081 others(2): Show a0001c0020 a0002c0010 a0005c0081 a0021c0083 a0024c0037	a0001c0020t0001 a0002c0010t0009 a0005c0081t0001 others(2): Show a0001c0020t0001 a0002c0010t0009 a0005c0081t0001 a0021c0083t0014 a0024c0037t0006	a0001c0020t0001g0068 a0002c0010t0009g0184 a0005c0081t0001g0157 others(2): Show a0001c0020t0001g0068 a0002c0010t0009g0184 a0005c0081t0001g0157 a0021c0083t0014g0152 a0024c0037t0006g0107	5	184	0.0272	15	c.114 others(34): Show c.1143+3371_1143+3385dupATCATCATCATCATC	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	10/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103898634	A A	AAGATGTA others(8): Show AAGATGTAACAGACAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0002 a0001c0068t0002	a0001c0068t0002g0025 a0001c0068t0002g0025	1	184	0.0054	15	c.337 others(34): Show c.337+18440_337+18441insCTGTCTGTTACATCT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	2/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103989356	T T	TGCCGCCG others(8): Show TGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG01070.hp2 others(8): Show HG00438.hp2 HG00609.hp2 HG01070.hp2 HG01071.hp2 HG02273.hp1 HG02523.hp2 NA18942.hp1 NA19068.hp2 NA19085.hp2 NA19086.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0052 a0002c0015	a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 others(5): Show a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 a0001c0004t0003 a0001c0006t0003 a0001c0007t0003 a0001c0052t0003 a0002c0015t0003	a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0002t0003g0167 others(8): Show a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0002t0003g0167 a0001c0003t0003g0171 a0001c0003t0003g0175 a0001c0004t0003g0166 a0001c0006t0003g0174 a0001c0006t0003g0176 a0001c0007t0003g0172 a0001c0052t0003g0168 a0002c0015t0003g0173	11	184	0.0598	15	c.-15 others(21): Show c.-15_-1dupGGCGGCGGCGGCGGC	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/65	1		chr7	TogoVar
RELT_chr11_73371399_73402474	73401080	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01884.hp1 HG01106.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0105 a0001c0001t0003g0106	2	340	0.0059	15	c.55 others(26): Show c.5589_*5590insTTATTATTATTATTA	RELT	ENSG00000054967.13	transcript	ENST00000064780.7	protein_coding		3607		chr11	TogoVar
REM2_chr14_22878222_22892678	22888841	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	392	0.0026	15	c.19 others(26): Show c.1932_*1933insAAAAAAAAAAAAAAA	REM2	ENSG00000139890.10	transcript	ENST00000267396.9	protein_coding		1164		chr14	TogoVar
REM2_chr14_22878222_22892678	22888998	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp1 others(44): Show HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG01109.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01952.hp1 HG02027.hp1 HG02056.hp1 HG02129.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02818.hp1 HG04184.hp2 HG06807.hp2 NA18939.hp1 NA18944.hp2 NA18953.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp2 NA18981.hp1 NA18986.hp2 NA18990.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19064.hp1 NA19078.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0002g0009 a0001c0001t0004g0001 a0001c0009t0001g0001 a0002c0002t0001g0002	47	392	0.1199	15	c.20 others(26): Show c.2089_*2090insAAAAAAAAAAAAAAA	REM2	ENSG00000139890.10	transcript	ENST00000267396.9	protein_coding		1321		chr14	TogoVar
REPS1_chr6_138898493_138993253	138907313	A A	AAGTGTGT others(8): Show AAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01515.hp2 HG02165.hp1 others(14): Show HG00741.hp2 HG01515.hp2 HG02165.hp1 HG02257.hp1 HG02451.hp1 HG03139.hp2 NA18942.hp1 NA18951.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18965.hp1 NA18968.hp2 NA19005.hp2 NA19056.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0023 a0002c0003t0004	a0001c0001t0002g0051 a0001c0001t0002g0067 a0001c0001t0002g0071 others(14): Show a0001c0001t0002g0051 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0083 a0001c0001t0002g0089 a0001c0001t0002g0097 a0001c0001t0006g0010 a0001c0001t0008g0090 a0001c0001t0023g0099 a0002c0003t0004g0024 a0002c0003t0004g0030 a0002c0003t0004g0032 a0002c0003t0004g0034 a0002c0003t0004g0035 a0002c0003t0004g0040	17	390	0.0436	15	c.232 others(32): Show c.2322+181_2322+182insACACACACACACACT	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	19/19			chr6	TogoVar
REPS1_chr6_138898493_138993253	138935856	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03942.hp1 NA19057.hp1 HG02615.hp1 HG03942.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0327 a0001c0002t0003g0361 a0001c0002t0003g0367 a0001c0002t0003g0327 a0001c0002t0003g0361 a0001c0002t0003g0367	3	390	0.0077	15	c.113 others(34): Show c.1135+5478_1135+5479insCCCCCCCCCCCCCCC	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	8/19			chr6	TogoVar
REPS1_chr6_138898493_138993253	138935870	G G	GGGGGGGG others(8): Show GGGGGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0368 a0001c0002t0003g0368	1	390	0.0026	15	c.113 others(34): Show c.1135+5464_1135+5465insGCCCCCCCCCCCCCC	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	8/19			chr6	TogoVar
REPS1_chr6_138898493_138993253	138955457	A A	AAGTGTGT others(8): Show AAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00609.hp2 others(34): Show HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG01106.hp2 HG01243.hp2 HG01358.hp1 HG02004.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG03098.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18945.hp1 NA18947.hp2 NA18953.hp2 NA18964.hp1 NA18967.hp1 NA18982.hp1 NA19043.hp2 NA19070.hp1 NA19080.hp2 NA19083.hp2 NA19091.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0003 a0004c0006 others(1): Show a0001c0001 a0002c0003 a0004c0006 a0006c0012	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0024 a0002c0003t0004 a0004c0006t0001 a0006c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0127 a0001c0001t0001g0132 others(33): Show a0001c0001t0001g0002 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0275 a0001c0001t0001g0287 a0001c0001t0009g0163 a0001c0001t0011g0217 a0001c0001t0024g0262 a0002c0003t0004g0020 a0002c0003t0004g0021 a0002c0003t0004g0025 a0004c0006t0001g0290 a0006c0012t0001g0298	37	390	0.0949	15	c.154 others(32): Show c.154-7545_154-7544insACACACACACACACT	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19			chr6	TogoVar
REPS1_chr6_138898493_138993253	138969269	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00673.hp1 others(10): Show HG00423.hp1 HG00438.hp2 HG00673.hp1 HG01257.hp1 HG01258.hp2 NA18946.hp2 NA18967.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA19004.hp1 NA19068.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 others(10): Show a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299	13	390	0.0333	15	c.153 others(34): Show c.153+18246_153+18260dupAAAAAAAAAAAAAAA	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19			chr6	TogoVar
REPS2_chrX_16941658_17158272	16951559	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02132.hp1 HG01256.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0025 a0001c0001t0023g0026 a0001c0001t0001g0025 a0001c0001t0023g0026	2	166	0.0121	15	c.273 others(32): Show c.273+4426_273+4427insACACACACACACACC	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17012380	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG06807.hp1 HG02258.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0139 a0001c0001t0010g0140 a0001c0001t0010g0139 a0001c0001t0010g0140	2	166	0.0121	15	c.397 others(32): Show c.397+6057_397+6071dupCAACAACAACAACAA	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17093200	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02922.hp1 others(3): Show HG02055.hp1 HG02572.hp1 HG02922.hp1 HG03471.hp1 NA19030.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0020	a0001c0001t0001g0056 a0001c0001t0001g0083 a0001c0001t0001g0091 others(3): Show a0001c0001t0001g0056 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0002g0131 a0001c0001t0018g0057 a0001c0001t0020g0045	6	166	0.0361	15	c.151 others(36): Show c.1517-10518_1517-10517insTATATATATATATAT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	13/17			chrX	TogoVar
REPS2_chrX_16941658_17158272	17119868	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp1 HG02258.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0009 a0001c0001t0010	a0001c0001t0009g0141 a0001c0001t0010g0140 a0001c0001t0009g0141 a0001c0001t0010g0140	2	166	0.0121	15	c.157 others(36): Show c.1579-13944_1579-13930dupTTTTTTTTTTTTTTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RER1_chr1_2386841_2410436	2401381	C C	CCTCCTCC others(8): Show CCTCCTCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(99): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02965.hp2 HG03130.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18952.hp1 NA18967.hp1 NA18975.hp2 NA18980.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19067.hp1 NA19070.hp1 NA19085.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0025 a0001c0001t0028 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(68): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0079 a0001c0001t0001g0095 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0006g0004 a0001c0001t0006g0010 a0001c0001t0006g0013 a0001c0001t0006g0038 a0001c0001t0006g0042 a0001c0001t0006g0168 a0001c0001t0010g0181 a0001c0001t0010g0190 a0001c0001t0010g0204 a0001c0001t0011g0005 a0001c0001t0015g0002 a0001c0001t0015g0060 a0001c0001t0016g0014 a0001c0001t0016g0048 a0001c0001t0020g0062 a0001c0001t0025g0161 a0001c0001t0028g0018 a0001c0001t0031g0038 a0001c0001t0034g0018 a0001c0001t0035g0002	102	354	0.2881	15	c.365 others(30): Show c.365+446_365+447insCTCCTCCTCCCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6			chr1	TogoVar
RERE_chr1_8347404_8822640	8383865	T T	TAAATAAA others(8): Show TAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG06807.hp1 HG02145.hp1 HG02970.hp2 HG06807.hp1	a0001 a0011 a0001 a0011	a0001c0004 a0001c0009 a0011c0024 a0001c0004 a0001c0009 a0011c0024	a0001c0004t0040 a0001c0009t0041 a0011c0024t0039 a0001c0004t0040 a0001c0009t0041 a0011c0024t0039	a0001c0004t0040g0199 a0001c0009t0041g0198 a0011c0024t0039g0197 a0001c0004t0040g0199 a0001c0009t0041g0198 a0011c0024t0039g0197	3	204	0.0147	15	c.128 others(36): Show c.1285-17906_1285-17892dupTATTTTATTTTATTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8385993	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0113 a0001c0001t0023g0113	1	204	0.0049	15	c.128 others(36): Show c.1285-20020_1285-20019insATATATATATATATT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8385993	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0155 a0001c0002t0032g0155	1	204	0.0049	15	c.128 others(36): Show c.1285-20020_1285-20019insATATATATATATATA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8401038	C C	CCATATAT others(8): Show CCATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0085 a0001c0003t0008g0085	1	204	0.0049	15	c.128 others(36): Show c.1284+21688_1284+21689insATATATATATATATG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8507737	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	204	0.0049	15	c.879 others(30): Show c.879+875_879+889dupAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8512014	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02683.hp1 HG04184.hp2 others(1): Show HG00609.hp2 HG02683.hp1 HG04184.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0001t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0075 a0001c0001t0003g0141 a0001c0004t0001g0003 others(1): Show a0001c0001t0001g0075 a0001c0001t0003g0141 a0001c0004t0001g0003 a0001c0004t0001g0049	4	204	0.0196	15	c.831 others(32): Show c.831-3354_831-3340dupAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8529287	C C	CTTCTTTT others(8): Show CTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0110 a0001c0002t0005g0110	1	204	0.0049	15	c.830 others(34): Show c.830+11926_830+11927insAAAAAAAAAAAAGAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8545982	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp1 HG02257.hp2 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0010 a0001c0005 a0001c0010	a0001c0005t0009 a0001c0010t0007 a0001c0005t0009 a0001c0010t0007	a0001c0005t0009g0201 a0001c0010t0007g0034 a0001c0005t0009g0201 a0001c0010t0007g0034	2	204	0.0098	15	c.726 others(32): Show c.726-4679_726-4665dupAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	6/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8556609	T T	TTTCCCAA others(8): Show TTTCCCAAAACAAGTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0007 a0001c0011t0007	a0001c0011t0007g0029 a0001c0011t0007g0029	1	204	0.0049	15	c.629 others(28): Show c.629-53_629-39dupTACTTGTTTTGGGAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	5/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02080.hp1 HG02258.hp1 others(10): Show HG00597.hp1 HG02080.hp1 HG02258.hp1 HG03195.hp2 HG03471.hp2 HG04115.hp1 NA18964.hp1 NA18973.hp2 NA18985.hp1 NA19005.hp1 NA19074.hp2 NA19090.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0023 others(2): Show a0001c0001 a0001c0002 a0001c0023 a0002c0006 a0002c0033	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0005 a0001c0023t0014 a0002c0006t0003 a0002c0033t0003	a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0001g0065 others(10): Show a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0006g0181 a0001c0002t0005g0131 a0001c0023t0014g0119 a0002c0006t0003g0094 a0002c0033t0003g0086	13	204	0.0637	15	c.523 others(32): Show c.523-1772_523-1758dupTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559296	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0121 a0001c0004t0022g0121	1	204	0.0049	15	c.523 others(32): Show c.523-1774_523-1773insGTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559304	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02074.hp2 HG02027.hp1 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0066 a0001c0001t0001g0043 a0001c0001t0001g0066	2	204	0.0098	15	c.523 others(32): Show c.523-1782_523-1781insGTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8605845	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp1 HG03579.hp1 HG02622.hp1 HG03130.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0002t0032 a0001c0005t0034 a0001c0002t0002 a0001c0002t0032 a0001c0005t0034	a0001c0002t0002g0157 a0001c0002t0032g0155 a0001c0005t0034g0156 a0001c0002t0002g0157 a0001c0002t0032g0155 a0001c0005t0034g0156	3	204	0.0147	15	c.522 others(32): Show c.522+8701_522+8715dupAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8607534	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02896.hp1 HG00639.hp2 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0004 a0001c0015t0001 a0001c0003t0004 a0001c0015t0001	a0001c0003t0004g0035 a0001c0015t0001g0009 a0001c0003t0004g0035 a0001c0015t0001g0009	2	204	0.0098	15	c.522 others(32): Show c.522+7012_522+7026dupAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8617343	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG01255.hp1 others(15): Show HG01192.hp1 HG01192.hp2 HG01255.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02683.hp1 HG02723.hp2 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03453.hp1 HG04115.hp2 NA18973.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0011 a0001c0015 a0005c0012	a0001c0001t0001 a0001c0001t0003 a0001c0002t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0005 a0001c0003t0004 a0001c0003t0012 a0001c0003t0017 a0001c0009t0004 a0001c0011t0007 a0001c0015t0001 a0005c0012t0008	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0040 others(15): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0074 a0001c0001t0003g0141 a0001c0002t0005g0125 a0001c0003t0004g0010 a0001c0003t0004g0019 a0001c0003t0004g0021 a0001c0003t0004g0068 a0001c0003t0012g0022 a0001c0003t0017g0032 a0001c0009t0004g0016 a0001c0011t0007g0027 a0001c0011t0007g0028 a0001c0011t0007g0029 a0001c0015t0001g0009 a0005c0012t0008g0138	18	204	0.0882	15	c.397 others(32): Show c.397-2658_397-2657insTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	3/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8635977	C C	CTTATCTT others(8): Show CTTATCTTATCTTATT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0126 a0001c0004t0014g0126	1	204	0.0049	15	c.326 others(34): Show c.326-11598_326-11597insAATAAGATAAGATAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	2/22			chr1	TogoVar

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