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
RD3L_chr14_103935426_103947529	103939743	G G	GTTTTGTT others(6): Show GTTTTGTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	13	c.10 others(24): Show c.1062_*1063insAAAAAAAACAAAA	RD3L	ENSG00000227729.5	transcript	ENST00000557640.2	protein_coding		682		chr14	TogoVar
RD3L_chr14_103935426_103947529	103939743	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00558.hp1 others(42): Show HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00642.hp2 HG00673.hp2 HG01243.hp1 HG01257.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG02027.hp2 HG02083.hp2 HG02451.hp2 HG02559.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG03041.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18957.hp2 NA18961.hp1 NA18966.hp2 NA18981.hp2 NA18989.hp1 NA18990.hp2 NA19002.hp2 NA19006.hp1 NA19065.hp1 NA19065.hp2 NA19080.hp2 NA19087.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0003c0003t0001g0005 a0001c0001t0001g0001 a0003c0003t0001g0005	45	440	0.1023	13	c.10 others(24): Show c.1050_*1062dupAAAAAAAAAAAAA	RD3L	ENSG00000227729.5	transcript	ENST00000557640.2	protein_coding		682		chr14	TogoVar
RD3L_chr14_103935426_103947529	103939750	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG00140.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	440	0.0046	13	c.10 others(24): Show c.1055_*1056insCAAAAAAAAAAAA	RD3L	ENSG00000227729.5	transcript	ENST00000557640.2	protein_coding		675		chr14	TogoVar
RDH10_chr8_73289602_73330281	73313542	C C	CATGGTAG others(6): Show CATGGTAGTCAAAG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	396	0.0025	13	c.526 others(30): Show c.526-5553_526-5541dupATGGTAGTCAAAG	RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RDH10_chr8_73289602_73330281	73325952	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02647.hp1 HG00438.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0133 a0001c0001t0004g0211 a0001c0001t0002g0133 a0001c0001t0004g0211	2	396	0.0051	13	c.29 others(24): Show c.2916_*2917insTGTGTGTGTGTGT	RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding		672		chr8	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	376	0.0027	13	c.-65 others(30): Show c.-65+6498_-65+6510dupTTTTTTTTTTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
REC114_chr15_73438164_73565013	73462884	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp1 HG01109.hp2 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0105 a0002c0002t0001g0107	2	188	0.0106	13	c.160 others(32): Show c.160-10937_160-10925dupAAAAAAAAAAAAA	REC114	ENSG00000183324.11	transcript	ENST00000331090.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
REC114_chr15_73438164_73565013	73485549	C C	CTTGGTAC others(6): Show CTTGGTACTGTCCT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	188	0.0053	13	c.249 others(32): Show c.249+11630_249+11642dupTGGTACTGTCCTT	REC114	ENSG00000183324.11	transcript	ENST00000331090.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
RECK_chr9_36031913_36129455	36082152	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19005.hp2 NA18989.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0337 a0002c0003t0001g0232 a0001c0001t0001g0337 a0002c0003t0001g0232	2	392	0.0051	13	c.440 others(30): Show c.440-1213_440-1212insCTCTCTCTCTCTC	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	7/20			chr9	TogoVar
RECK_chr9_36031913_36129455	36104326	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0335 a0001c0001t0011g0335	1	392	0.0026	13	c.143 others(30): Show c.1436-816_1436-815insATATATATATTTT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36104327	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	392	0.0026	13	c.143 others(30): Show c.1436-816_1436-815insATATATATATATA	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20			chr9	TogoVar
REEP1_chr2_86208993_86342626	86217666	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0012	1	320	0.0031	13	c.784 others(28): Show c.784-569_784-557dupAAAAAAAAAAAAA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	8/8			chr2	TogoVar
REEP1_chr2_86208993_86342626	86334266	T T	TGTCAGGA others(6): Show TGTCAGGATTCATC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	320	0.0031	13	c.32+ others(28): Show c.32+3212_32+3213insGATGAATCCTGAC	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	1/8			chr2	TogoVar
REEP1_chr2_86208993_86342626	86342181	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01070.hp2 HG01071.hp2 others(40): Show HG00423.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18982.hp1 NA19003.hp1 NA19011.hp1 NA19012.hp2 NA19067.hp1 NA19074.hp1 NA19085.hp1 NA19088.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(14): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0035 a0001c0001t0036 a0001c0002t0001 a0001c0002t0006 a0001c0002t0020	a0001c0001t0003g0153 a0001c0001t0003g0290 a0001c0001t0005g0001 others(39): Show a0001c0001t0003g0153 a0001c0001t0003g0290 a0001c0001t0005g0001 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0037 a0001c0001t0005g0041 a0001c0001t0007g0006 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0009g0286 a0001c0001t0011g0314 a0001c0001t0013g0025 a0001c0001t0013g0033 a0001c0001t0015g0016 a0001c0001t0016g0039 a0001c0001t0016g0040 a0001c0001t0021g0075 a0001c0001t0022g0058 a0001c0001t0023g0019 a0001c0001t0025g0018 a0001c0001t0035g0288 a0001c0001t0036g0070 a0001c0002t0001g0022 a0001c0002t0001g0026 a0001c0002t0006g0298 a0001c0002t0006g0299 a0001c0002t0006g0300 a0001c0002t0006g0301 a0001c0002t0006g0303 a0001c0002t0020g0306	43	320	0.1344	13	c.-46 others(24): Show c.-4672_-4671insAAAAAAAAAAAAA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding		4556		chr2	TogoVar
REEP3_chr10_63516401_63630128	63622705	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01884.hp2 HG02109.hp2 others(7): Show HG01106.hp2 HG01884.hp2 HG02109.hp2 HG02572.hp2 HG02622.hp1 HG02717.hp2 HG02809.hp1 HG03130.hp1 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 others(3): Show a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063	a0001c0001t0017g0084 a0001c0001t0017g0085 a0001c0001t0017g0086 others(7): Show a0001c0001t0017g0084 a0001c0001t0017g0085 a0001c0001t0017g0086 a0001c0001t0028g0093 a0001c0001t0028g0272 a0001c0001t0029g0203 a0001c0001t0029g0204 a0001c0001t0061g0130 a0001c0001t0062g0270 a0001c0001t0063g0016	10	284	0.0352	13	c.18 others(24): Show c.1844_*1856dupTTTTTTTTTTTTT	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	8/8	1857	INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP5_chr5_112871385_112927227	112895237	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG02886.hp2 others(3): Show HG02145.hp2 HG02615.hp1 HG02886.hp2 HG03453.hp1 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0063 a0001c0001t0007 a0001c0001t0063	a0001c0001t0007g0261 a0001c0001t0007g0262 a0001c0001t0007g0279 others(3): Show a0001c0001t0007g0261 a0001c0001t0007g0262 a0001c0001t0007g0279 a0001c0001t0007g0280 a0001c0001t0007g0281 a0001c0001t0063g0282	6	340	0.0177	13	c.351 others(30): Show c.351+7130_351+7142dupTTTTTTTTTTTTT	REEP5	ENSG00000129625.13	transcript	ENST00000379638.9	protein_coding	3/4			chr5	TogoVar
REEP6_chr19_1486181_1502927	1490893	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02723.hp2 HG03225.hp1 others(2): Show HG01106.hp2 HG02723.hp2 HG03225.hp1 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0024 a0001c0001t0002g0055 a0001c0001t0002g0067 others(1): Show a0001c0001t0001g0024 a0001c0001t0002g0055 a0001c0001t0002g0067 a0001c0003t0002g0012	5	318	0.0157	13	c.-37 others(22): Show c.-377_-376insCCCCCCCCCCCCC	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		287		chr19	TogoVar
RELCH_chr18_62182255_62315249	62260193	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG04204.hp2 HG00741.hp2 HG04204.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0048 a0001c0005t0008 a0001c0005t0048	a0001c0005t0008g0306 a0001c0005t0048g0303 a0001c0005t0008g0306 a0001c0005t0048g0303	2	340	0.0059	13	c.220 others(32): Show c.2203-1306_2203-1305insAAAAAAAAAAAAA	RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding	15/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
RELL1_chr4_37605634_37691376	37612636	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0293 a0001c0001t0036g0293	1	324	0.0031	13	c.69 others(22): Show c.697_*709dupTTTTTTTTTTTTT	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	7/7	18751		chr4	TogoVar
RELL1_chr4_37605634_37691376	37653370	A A	ACAAGTAT others(6): Show ACAAGTATTGAAAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01069.hp2 others(39): Show HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG02027.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA18964.hp1 NA19043.hp1 NA19043.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007	a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 others(10): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0027 a0001c0001t0042 a0001c0001t0057 a0001c0002t0005 a0001c0002t0011 a0001c0002t0051 a0001c0006t0025 a0001c0007t0030	a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0056 others(36): Show a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0004g0085 a0001c0001t0004g0089 a0001c0001t0004g0110 a0001c0001t0004g0123 a0001c0001t0004g0129 a0001c0001t0004g0144 a0001c0001t0004g0165 a0001c0001t0004g0191 a0001c0001t0004g0195 a0001c0001t0004g0207 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0295 a0001c0001t0010g0149 a0001c0001t0013g0116 a0001c0001t0014g0003 a0001c0001t0014g0153 a0001c0001t0018g0002 a0001c0001t0018g0025 a0001c0001t0027g0247 a0001c0001t0042g0211 a0001c0001t0057g0121 a0001c0002t0005g0064 a0001c0002t0011g0001 a0001c0002t0011g0065 a0001c0002t0011g0067 a0001c0002t0051g0066 a0001c0006t0025g0023 a0001c0006t0025g0252 a0001c0007t0030g0090	42	324	0.1296	13	c.89- others(28): Show c.89-3871_89-3870insGTTTCAATACTTG	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
RELN_chr7_103466789_103994658	103494365	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0014 a0001c0011t0002g0014	1	184	0.0054	13	c.936 others(32): Show c.9369+1357_9369+1358insCACACACACACAC	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	57/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103518505	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01106.hp1 HG02523.hp2 others(19): Show HG01070.hp1 HG01106.hp1 HG02523.hp2 HG02615.hp2 HG02630.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03492.hp1 HG03579.hp1 NA18906.hp1 NA18964.hp2 NA19011.hp2 NA19086.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0020 a0023	a0001c0001 a0001c0006 a0001c0008 others(11): Show a0001c0001 a0001c0006 a0001c0008 a0001c0023 a0001c0024 a0001c0026 a0001c0050 a0001c0051 a0001c0070 a0001c0073 a0002c0021 a0005c0082 a0020c0074 a0023c0035	a0001c0001t0004 a0001c0006t0001 a0001c0006t0002 others(14): Show a0001c0001t0004 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0008t0002 a0001c0023t0001 a0001c0024t0001 a0001c0026t0001 a0001c0026t0002 a0001c0050t0002 a0001c0051t0010 a0001c0070t0017 a0001c0073t0001 a0002c0021t0001 a0005c0082t0001 a0020c0074t0002 a0023c0035t0001	a0001c0001t0004g0160 a0001c0006t0001g0047 a0001c0006t0001g0082 others(19): Show a0001c0001t0004g0160 a0001c0006t0001g0047 a0001c0006t0001g0082 a0001c0006t0001g0087 a0001c0006t0001g0097 a0001c0006t0001g0141 a0001c0006t0002g0027 a0001c0006t0003g0174 a0001c0008t0002g0034 a0001c0023t0001g0110 a0001c0024t0001g0058 a0001c0024t0001g0072 a0001c0026t0001g0128 a0001c0026t0002g0016 a0001c0050t0002g0003 a0001c0051t0010g0178 a0001c0070t0017g0024 a0001c0073t0001g0120 a0002c0021t0001g0140 a0005c0082t0001g0156 a0020c0074t0002g0026 a0023c0035t0001g0148	22	184	0.1196	13	c.786 others(30): Show c.7862+805_7862+817dupAAAAAAAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	49/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103708464	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03471.hp1 HG02735.hp2 HG03471.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0004c0017 a0001c0006 a0004c0017	a0001c0006t0001 a0004c0017t0001 a0001c0006t0001 a0004c0017t0001	a0001c0006t0001g0082 a0004c0017t0001g0122 a0001c0006t0001g0082 a0004c0017t0001g0122	2	184	0.0109	13	c.806 others(30): Show c.806-7471_806-7459dupAAAAAAAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	8/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103725467	C C	CTGAGGTG others(6): Show CTGAGGTGGGAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(127): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18979.hp1 NA18979.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18998.hp2 NA19002.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0027 a0028 a0030 a0032 a0033 a0034 a0035 a0036 a0037 a0038	a0001c0001 a0001c0002 a0001c0003 others(67): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0018 a0001c0019 a0001c0020 a0001c0022 a0001c0023 a0001c0026 a0001c0039 a0001c0041 a0001c0043 a0001c0044 a0001c0048 a0001c0052 a0001c0057 a0001c0066 a0001c0067 a0001c0069 a0001c0070 a0001c0073 a0002c0009 a0002c0010 a0002c0014 a0002c0015 a0002c0021 a0002c0030 a0002c0031 a0002c0060 a0003c0016 a0003c0078 a0004c0017 a0004c0064 a0004c0065 a0005c0081 a0005c0084 a0006c0013 a0007c0012 a0008c0047 a0008c0058 a0009c0025 a0010c0063 a0012c0056 a0013c0054 a0015c0071 a0016c0062 a0017c0036 a0018c0079 a0019c0059 a0020c0074 a0021c0083 a0022c0046 a0023c0035 a0024c0037 a0027c0072 a0028c0032 a0030c0077 a0032c0055 a0033c0085 a0034c0080 a0035c0029 a0036c0038 a0037c0028 a0038c0075	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(92): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0007t0001 a0001c0007t0003 a0001c0007t0004 a0001c0008t0001 a0001c0008t0002 a0001c0008t0004 a0001c0008t0008 a0001c0011t0001 a0001c0018t0001 a0001c0019t0002 a0001c0020t0001 a0001c0020t0004 a0001c0022t0001 a0001c0023t0001 a0001c0026t0001 a0001c0026t0002 a0001c0039t0005 a0001c0041t0001 a0001c0043t0001 a0001c0044t0016 a0001c0048t0012 a0001c0052t0003 a0001c0057t0001 a0001c0066t0001 a0001c0067t0002 a0001c0069t0007 a0001c0070t0017 a0001c0073t0001 a0002c0009t0001 a0002c0010t0001 a0002c0010t0002 a0002c0010t0009 a0002c0014t0001 a0002c0015t0001 a0002c0015t0002 a0002c0015t0003 a0002c0021t0001 a0002c0030t0002 a0002c0031t0001 a0002c0060t0001 a0003c0016t0001 a0003c0078t0005 a0004c0017t0004 a0004c0064t0002 a0004c0065t0001 a0005c0081t0001 a0005c0084t0001 a0006c0013t0002 a0007c0012t0001 a0008c0047t0008 a0008c0058t0002 a0009c0025t0006 a0010c0063t0001 a0012c0056t0002 a0013c0054t0001 a0015c0071t0001 a0016c0062t0002 a0017c0036t0001 a0018c0079t0015 a0019c0059t0001 a0020c0074t0002 a0021c0083t0014 a0022c0046t0004 a0023c0035t0001 a0024c0037t0006 a0027c0072t0001 a0028c0032t0001 a0030c0077t0001 a0032c0055t0001 a0033c0085t0006 a0034c0080t0001 a0035c0029t0001 a0036c0038t0005 a0037c0028t0001 a0038c0075t0001	a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0001g0073 others(127): Show a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0090 a0001c0001t0001g0111 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0004g0160 a0001c0001t0013g0164 a0001c0002t0001g0041 a0001c0002t0001g0083 a0001c0002t0001g0094 a0001c0002t0002g0005 a0001c0002t0003g0167 a0001c0002t0011g0177 a0001c0003t0001g0038 a0001c0003t0001g0124 a0001c0003t0002g0017 a0001c0003t0003g0171 a0001c0004t0001g0052 a0001c0004t0001g0065 a0001c0004t0001g0091 a0001c0004t0001g0100 a0001c0004t0001g0137 a0001c0004t0003g0166 a0001c0005t0001g0037 a0001c0005t0001g0144 a0001c0005t0002g0007 a0001c0005t0002g0032 a0001c0005t0007g0109 a0001c0006t0001g0047 a0001c0006t0001g0097 a0001c0006t0001g0141 a0001c0006t0002g0027 a0001c0006t0003g0174 a0001c0006t0003g0176 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0007t0001g0071 a0001c0007t0001g0080 a0001c0007t0001g0115 a0001c0007t0003g0172 a0001c0007t0004g0158 a0001c0008t0001g0138 a0001c0008t0002g0034 a0001c0008t0004g0159 a0001c0008t0008g0001 a0001c0011t0001g0119 a0001c0011t0001g0142 a0001c0018t0001g0081 a0001c0019t0002g0011 a0001c0020t0001g0068 a0001c0020t0004g0162 a0001c0022t0001g0102 a0001c0022t0001g0103 a0001c0023t0001g0110 a0001c0023t0001g0134 a0001c0026t0001g0128 a0001c0026t0002g0016 a0001c0039t0005g0182 a0001c0041t0001g0075 a0001c0043t0001g0061 a0001c0044t0016g0035 a0001c0048t0012g0165 a0001c0052t0003g0168 a0001c0057t0001g0112 a0001c0066t0001g0062 a0001c0067t0002g0008 a0001c0069t0007g0123 a0001c0070t0017g0024 a0001c0073t0001g0120 a0002c0009t0001g0056 a0002c0009t0001g0057 a0002c0009t0001g0074 a0002c0009t0001g0131 a0002c0010t0001g0133 a0002c0010t0002g0019 a0002c0010t0009g0184 a0002c0014t0001g0064 a0002c0014t0001g0088 a0002c0014t0001g0143 a0002c0015t0001g0055 a0002c0015t0002g0013 a0002c0015t0003g0173 a0002c0021t0001g0113 a0002c0021t0001g0140 a0002c0030t0002g0031 a0002c0031t0001g0046 a0002c0060t0001g0067 a0003c0016t0001g0053 a0003c0078t0005g0181 a0004c0017t0004g0163 a0004c0064t0002g0004 a0004c0065t0001g0147 a0005c0081t0001g0157 a0005c0084t0001g0153 a0006c0013t0002g0018 a0007c0012t0001g0096 a0008c0047t0008g0002 a0008c0058t0002g0020 a0009c0025t0006g0039 a0009c0025t0006g0040 a0010c0063t0001g0063 a0012c0056t0002g0021 a0013c0054t0001g0149 a0015c0071t0001g0108 a0016c0062t0002g0029 a0017c0036t0001g0121 a0018c0079t0015g0150 a0019c0059t0001g0036 a0020c0074t0002g0026 a0021c0083t0014g0152 a0022c0046t0004g0161 a0023c0035t0001g0148 a0024c0037t0006g0107 a0027c0072t0001g0125 a0028c0032t0001g0076 a0030c0077t0001g0048 a0032c0055t0001g0079 a0033c0085t0006g0151 a0034c0080t0001g0155 a0035c0029t0001g0077 a0036c0038t0005g0183 a0037c0028t0001g0042 a0038c0075t0001g0127	130	184	0.7065	13	c.754 others(30): Show c.754-2277_754-2276insTCCTCCCACCTCA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	7/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103920593	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0069 a0001c0019t0001g0069	1	184	0.0054	13	c.227 others(30): Show c.227-3409_227-3408insTCAAAAAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64			chr7	TogoVar
REM2_chr14_22878222_22892678	22888998	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00639.hp2 others(33): Show HG00423.hp1 HG00597.hp1 HG00639.hp2 HG01123.hp1 HG01175.hp2 HG01975.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp1 HG02886.hp1 HG02965.hp2 HG03098.hp2 HG03927.hp2 HG04228.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18990.hp1 NA18999.hp1 NA19007.hp2 NA19057.hp1 NA19070.hp1 NA19074.hp2 NA19086.hp1 NA19091.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0007g0002 a0002c0002t0001g0001 a0002c0002t0001g0002	36	392	0.0918	13	c.20 others(24): Show c.2089_*2090insAAAAAAAAAAAAA	REM2	ENSG00000139890.10	transcript	ENST00000267396.9	protein_coding		1321		chr14	TogoVar
REPS1_chr6_138898493_138993253	138907313	A A	AAGTGTGT others(6): Show AAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01069.hp1 others(53): Show HG00639.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02056.hp1 HG02258.hp2 HG02293.hp2 HG02559.hp1 HG02602.hp1 HG02698.hp2 HG02717.hp1 HG02922.hp1 HG03453.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04228.hp2 NA18941.hp2 NA18943.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18973.hp2 NA19000.hp2 NA19058.hp1 NA19070.hp2 NA19082.hp2 NA19085.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018 a0001c0001t0022 a0002c0003t0004 a0002c0003t0012	a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 others(53): Show a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0006g0009 a0001c0001t0006g0011 a0001c0001t0007g0086 a0001c0001t0018g0012 a0001c0001t0022g0100 a0002c0003t0004g0017 a0002c0003t0004g0018 a0002c0003t0004g0027 a0002c0003t0004g0028 a0002c0003t0004g0029 a0002c0003t0004g0031 a0002c0003t0004g0036 a0002c0003t0004g0038 a0002c0003t0012g0307 a0002c0003t0012g0308	56	390	0.1436	13	c.232 others(30): Show c.2322+181_2322+182insACACACACACACT	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	19/19			chr6	TogoVar
REPS1_chr6_138898493_138993253	138935856	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02055.hp2 NA18995.hp1 HG02040.hp2 HG02055.hp2 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0318 a0001c0002t0003g0369 a0001c0002t0003g0372 a0001c0002t0003g0318 a0001c0002t0003g0369 a0001c0002t0003g0372	3	390	0.0077	13	c.113 others(32): Show c.1135+5478_1135+5479insCCCCCCCCCCCCC	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	8/19			chr6	TogoVar
REPS1_chr6_138898493_138993253	138935870	G G	GGGGGGGG others(6): Show GGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0379 a0001c0002t0003g0379	1	390	0.0026	13	c.113 others(32): Show c.1135+5464_1135+5465insACCCCCCCCCCCC	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	8/19			chr6	TogoVar
REPS1_chr6_138898493_138993253	138955457	A A	AAGTGTGT others(6): Show AAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00733.hp1 others(40): Show HG00558.hp1 HG00621.hp2 HG00733.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01515.hp1 HG01516.hp1 HG01934.hp2 HG01943.hp1 HG02074.hp1 HG02109.hp1 HG02280.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18974.hp2 NA18986.hp2 NA19000.hp1 NA19012.hp2 NA19060.hp1 NA19079.hp1 NA19083.hp1 NA19090.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0026 a0001c0001t0029	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0133 others(40): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0010g0008 a0001c0001t0026g0306 a0001c0001t0029g0382	43	390	0.1103	13	c.154 others(30): Show c.154-7545_154-7544insACACACACACACT	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19			chr6	TogoVar
REPS1_chr6_138898493_138993253	138969269	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02074.hp1 HG02293.hp1 others(13): Show HG02015.hp1 HG02074.hp1 HG02293.hp1 HG02735.hp1 HG03491.hp2 HG03492.hp1 HG03834.hp1 NA18948.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp2 NA18974.hp2 NA18980.hp1 NA19006.hp1 NA19060.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0154 others(13): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0252 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0276 a0001c0001t0001g0287 a0001c0001t0001g0294	16	390	0.0410	13	c.153 others(32): Show c.153+18248_153+18260dupAAAAAAAAAAAAA	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19			chr6	TogoVar
REPS2_chrX_16941658_17158272	16951559	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	166	0.0060	13	c.273 others(30): Show c.273+4426_273+4427insACACACACACACC	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	16951559	A A	ACACACAC others(6): Show ACACACACACACCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0029 a0001c0001t0005g0029	1	166	0.0060	13	c.273 others(30): Show c.273+4426_273+4427insACACACACACCCC	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050196	T T	TTTCTTTT others(6): Show TTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0006 a0006	a0006c0002 a0006c0002	a0006c0002t0001 a0006c0002t0001	a0006c0002t0001g0038 a0006c0002t0001g0038	1	166	0.0060	13	c.908 others(30): Show c.908-2184_908-2183insCTTTTCTTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050197	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	166	0.0060	13	c.908 others(30): Show c.908-2185_908-2184insCTTTCTTTCTTTC	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17			chrX	TogoVar
REPS2_chrX_16941658_17158272	17093200	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA20905.hp1 HG02145.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0130 a0001c0001t0004g0100 a0001c0001t0002g0130 a0001c0001t0004g0100	2	166	0.0121	13	c.151 others(34): Show c.1517-10518_1517-10517insTATATATATATAT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	13/17			chrX	TogoVar
RER1_chr1_2386841_2410436	2401252	T T	TTCCTCCC others(6): Show TTCCTCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(124): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03225.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18975.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033	a0001c0001t0001g0134 a0001c0001t0001g0201 a0001c0001t0002g0001 others(76): Show a0001c0001t0001g0134 a0001c0001t0001g0201 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0160 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0188 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0005g0006 a0001c0001t0005g0015 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0164 a0001c0001t0005g0203 a0001c0001t0005g0208 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0008g0001 a0001c0001t0008g0030 a0001c0001t0008g0065 a0001c0001t0008g0178 a0001c0001t0008g0228 a0001c0001t0009g0016 a0001c0001t0012g0043 a0001c0001t0017g0158 a0001c0001t0017g0207 a0001c0001t0018g0007 a0001c0001t0018g0012 a0001c0001t0022g0006 a0001c0001t0029g0068 a0001c0001t0030g0087 a0001c0001t0033g0129	127	354	0.3588	13	c.365 others(28): Show c.365+318_365+330dupTCCTCCCTCCTCC	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RERE_chr1_8347404_8822640	8372543	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0149	1	204	0.0049	13	c.128 others(32): Show c.1285-6570_1285-6569insCACACACACACAC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8403825	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	204	0.0049	13	c.128 others(34): Show c.1284+18889_1284+18901dupAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8507737	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03516.hp2 HG03209.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0177 a0001c0002t0002g0179	2	204	0.0098	13	c.879 others(28): Show c.879+877_879+889dupAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8512014	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02886.hp1 others(4): Show HG01884.hp1 HG02109.hp2 HG02886.hp1 HG03471.hp2 NA18939.hp1 NA18964.hp2 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 a0001c0002 a0001c0003 a0001c0007	a0001c0002t0005 a0001c0003t0004 a0001c0007t0004 a0001c0002t0005 a0001c0003t0004 a0001c0007t0004	a0001c0002t0005g0128 a0001c0002t0005g0131 a0001c0002t0005g0132 others(4): Show a0001c0002t0005g0128 a0001c0002t0005g0131 a0001c0002t0005g0132 a0001c0002t0005g0136 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0007t0004g0044	7	204	0.0343	13	c.831 others(30): Show c.831-3352_831-3340dupAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02622.hp1 HG03041.hp1 others(1): Show HG02004.hp1 HG02622.hp1 HG03041.hp1 HG03471.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0005 a0006c0013 a0001c0002 a0001c0005 a0006c0013	a0001c0002t0005 a0001c0005t0034 a0006c0013t0021 others(1): Show a0001c0002t0005 a0001c0005t0034 a0006c0013t0021 a0006c0013t0029	a0001c0002t0005g0114 a0001c0005t0034g0156 a0006c0013t0021g0023 others(1): Show a0001c0002t0005g0114 a0001c0005t0034g0156 a0006c0013t0021g0023 a0006c0013t0029g0111	4	204	0.0196	13	c.831 others(30): Show c.831-7565_831-7553dupTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GGAAAAAA others(6): Show GGAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	204	0.0049	13	c.831 others(30): Show c.831-7553_831-7552insTTTTTTTTTTTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8521176	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0126 a0001c0004t0014g0126	1	204	0.0049	13	c.831 others(32): Show c.831-12514_831-12502dupTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8545982	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp1 HG02109.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0202 a0001c0005t0009g0203 a0001c0005t0009g0202 a0001c0005t0009g0203	2	204	0.0098	13	c.726 others(30): Show c.726-4677_726-4665dupAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	6/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01167.hp1 HG02559.hp1 others(6): Show HG00544.hp2 HG01167.hp1 HG02559.hp1 HG02698.hp1 HG02735.hp2 HG03491.hp1 NA18939.hp1 NA18973.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0004c0017	a0001c0002t0006 a0001c0002t0018 a0001c0003t0004 others(3): Show a0001c0002t0006 a0001c0002t0018 a0001c0003t0004 a0001c0004t0005 a0001c0004t0010 a0004c0017t0004	a0001c0002t0006g0145 a0001c0002t0018g0002 a0001c0003t0004g0010 others(6): Show a0001c0002t0006g0145 a0001c0002t0018g0002 a0001c0003t0004g0010 a0001c0003t0004g0019 a0001c0003t0004g0036 a0001c0003t0004g0041 a0001c0004t0005g0079 a0001c0004t0010g0120 a0004c0017t0004g0012	9	204	0.0441	13	c.523 others(30): Show c.523-1770_523-1758dupTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8605745	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03139.hp1 HG03041.hp2 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0073 a0003c0008t0001g0071 a0001c0001t0001g0073 a0003c0008t0001g0071	2	204	0.0098	13	c.522 others(30): Show c.522+8803_522+8815dupTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8607534	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0006 a0003c0008t0001g0006	1	204	0.0049	13	c.522 others(30): Show c.522+7014_522+7026dupAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8617343	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00597.hp2 others(34): Show HG00140.hp2 HG00280.hp1 HG00597.hp2 HG00609.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp1 HG01433.hp1 HG02027.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02165.hp2 HG02486.hp2 HG02523.hp1 HG02647.hp2 HG02698.hp1 HG02809.hp2 HG03130.hp2 HG03139.hp1 HG03491.hp2 HG03688.hp1 HG04184.hp2 HG04199.hp2 NA18944.hp1 NA18964.hp2 NA18967.hp1 NA18983.hp2 NA18985.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19070.hp2 NA19074.hp1 NA19085.hp2 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0019 a0009c0031	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0036 a0001c0003t0004 a0001c0004t0001 a0001c0004t0003 a0001c0005t0019 a0001c0007t0004 a0001c0009t0004 a0001c0010t0007 a0001c0019t0001 a0009c0031t0007	a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0043 others(34): Show a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0003g0124 a0001c0001t0006g0184 a0001c0001t0036g0194 a0001c0003t0004g0036 a0001c0004t0001g0003 a0001c0004t0001g0049 a0001c0004t0003g0092 a0001c0005t0019g0030 a0001c0007t0004g0044 a0001c0007t0004g0047 a0001c0009t0004g0020 a0001c0010t0007g0026 a0001c0019t0001g0005 a0009c0031t0007g0025	37	204	0.1814	13	c.397 others(30): Show c.397-2670_397-2658dupTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	3/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8669077	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	204	0.0049	13	c.-14 others(34): Show c.-144-12637_-144-12636insCACACACACACAC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar

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