Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RELN_chr7_103466789_103994658	103491848	TCTCTCTC others(5): Show TCTCTCTCTCACA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp2 HG01891.hp2 HG02809.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0002 a0006c0013t0001 a0006c0013t0002	a0006c0013t0001g0126 a0006c0013t0002g0018 a0006c0013t0001g0126 a0006c0013t0002g0018	2	184	0.0109	-12	c.944 others(28): Show c.9443+93_9443+104delTGTGAGAGAGAG		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	58/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103622795	GTCTGGAA others(5): Show GTCTGGAATATTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01928.hp1 HG02293.hp1 others(10): Show HG00438.hp1 HG01928.hp1 HG02293.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18964.hp1 NA18969.hp2 NA19011.hp1 NA19060.hp1 NA19067.hp1 NA19080.hp1 NA19091.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0007 a0001c0022 a0001c0023 others(3): Show a0001c0007 a0001c0022 a0001c0023 a0001c0024 a0003c0075 a0010c0061	a0001c0007t0001 a0001c0007t0003 a0001c0007t0004 others(5): Show a0001c0007t0001 a0001c0007t0003 a0001c0007t0004 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0003c0075t0005 a0010c0061t0001	a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0007t0001g0071 others(10): Show a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0007t0001g0071 a0001c0007t0001g0080 a0001c0007t0003g0172 a0001c0007t0004g0158 a0001c0022t0001g0062 a0001c0022t0001g0077 a0001c0023t0001g0102 a0001c0023t0001g0103 a0001c0024t0001g0134 a0003c0075t0005g0181 a0010c0061t0001g0063	13	184	0.0707	-12	c.270 others(31): Show c.2702+7133_2702+7144delTAATATTCCAGA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	20/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103665354	GTGTGTGT others(5): Show GTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	184	0.0054	-12	c.129 others(31): Show c.1290-3839_1290-3828delTATACACACACA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	11/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103665358	GTGTGTAT others(5): Show GTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19030.hp1 NA18522.hp1 NA19030.hp1	a0011 a0019 a0011 a0019	a0011c0082 a0019c0069 a0011c0082 a0019c0069	a0011c0082t0006 a0019c0069t0001 a0011c0082t0006 a0019c0069t0001	a0011c0082t0006g0151 a0019c0069t0001g0125 a0011c0082t0006g0151 a0019c0069t0001g0125	2	184	0.0109	-12	c.129 others(31): Show c.1290-3843_1290-3832delTATATATACACA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	11/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103675872	TATACAAA others(5): Show TATACAAAAATTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00609.hp1 others(32): Show HG00408.hp2 HG00558.hp2 HG00609.hp1 HG01169.hp2 HG01255.hp2 HG01891.hp2 HG02071.hp2 HG02083.hp2 HG02165.hp1 HG02293.hp2 HG02683.hp2 HG03492.hp2 HG03669.hp2 HG06807.hp2 NA18747.hp2 NA18942.hp2 NA18952.hp2 NA18957.hp1 NA18965.hp2 NA18966.hp1 NA18979.hp2 NA18986.hp1 NA18998.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp2 NA19088.hp1 NA19091.hp2 NA20905.hp1	a0001 a0003 a0006 others(7): Show a0001 a0003 a0006 a0007 a0010 a0020 a0023 a0024 a0025 a0033	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0018 a0001c0037 a0003c0016 a0003c0073 a0006c0013 a0007c0012 a0010c0032 a0020c0031 a0023c0050 a0024c0042 a0025c0039 a0033c0059	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(21): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0004t0001 a0001c0004t0005 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0011t0002 a0001c0018t0001 a0001c0037t0001 a0003c0016t0001 a0003c0073t0002 a0006c0013t0002 a0007c0012t0001 a0010c0032t0001 a0020c0031t0001 a0023c0050t0001 a0024c0042t0001 a0025c0039t0001 a0033c0059t0001	a0001c0001t0001g0084 a0001c0001t0001g0111 a0001c0002t0001g0085 others(32): Show a0001c0001t0001g0084 a0001c0001t0001g0111 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0002g0015 a0001c0003t0001g0093 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0117 a0001c0003t0003g0175 a0001c0003t0005g0180 a0001c0004t0001g0051 a0001c0004t0001g0092 a0001c0004t0005g0179 a0001c0005t0001g0044 a0001c0006t0001g0087 a0001c0008t0001g0114 a0001c0011t0002g0014 a0001c0018t0001g0059 a0001c0037t0001g0078 a0003c0016t0001g0098 a0003c0073t0002g0028 a0006c0013t0002g0018 a0007c0012t0001g0070 a0007c0012t0001g0096 a0010c0032t0001g0089 a0020c0031t0001g0054 a0023c0050t0001g0104 a0024c0042t0001g0043 a0025c0039t0001g0116 a0033c0059t0001g0060	35	184	0.1902	-12	c.128 others(31): Show c.1289+6232_1289+6243delTAATTTTTGTAT		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	11/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103677405	TATAATAA others(5): Show TATAATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp2 HG01928.hp2 others(7): Show HG01192.hp1 HG01891.hp2 HG01928.hp2 HG02615.hp1 HG02615.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp1 NA19088.hp2 NA21309.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0018 a0026	a0001c0001 a0001c0020 a0001c0025 others(4): Show a0001c0001 a0001c0020 a0001c0025 a0002c0009 a0006c0013 a0018c0068 a0026c0043	a0001c0001t0013 a0001c0020t0004 a0001c0025t0001 others(4): Show a0001c0001t0013 a0001c0020t0004 a0001c0025t0001 a0002c0009t0001 a0006c0013t0002 a0018c0068t0001 a0026c0043t0004	a0001c0001t0013g0164 a0001c0020t0004g0162 a0001c0025t0001g0058 others(7): Show a0001c0001t0013g0164 a0001c0020t0004g0162 a0001c0025t0001g0058 a0001c0025t0001g0072 a0002c0009t0001g0056 a0002c0009t0001g0074 a0002c0009t0001g0131 a0006c0013t0002g0018 a0018c0068t0001g0108 a0026c0043t0004g0161	10	184	0.0544	-12	c.128 others(31): Show c.1289+4699_1289+4710delTATTATTATTAT		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	11/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103759990	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0002 a0001c0027t0001 a0001c0027t0002	a0001c0027t0001g0128 a0001c0027t0002g0016 a0001c0027t0001g0128 a0001c0027t0002g0016	2	184	0.0109	-12	c.545 others(29): Show c.545-6788_545-6777delAAAAAAAAAAAA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	4/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103772312	AAATGAAT others(5): Show AAATGAATGAATG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 homoSapiens_chm13v2.hp1 HG02717.hp2 homoSapiens_chm13v2.hp1	a0001 a0031 a0001 a0031	a0001c0001 a0031c0034 a0001c0001 a0031c0034	a0001c0001t0001 a0031c0034t0001 a0001c0001t0001 a0031c0034t0001	a0001c0001t0001g0130 a0031c0034t0001g0121 a0001c0001t0001g0130 a0031c0034t0001g0121	2	184	0.0109	-12	c.544 others(29): Show c.544+4233_544+4244delCATTCATTCATT		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	4/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103773100	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01070.hp2 HG01071.hp2 others(13): Show HG00609.hp1 HG01070.hp2 HG01071.hp2 HG01255.hp2 HG02083.hp2 HG02109.hp1 HG02630.hp2 HG02735.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp1 NA18747.hp2 NA18942.hp2 NA18952.hp2 NA19011.hp1 NA20129.hp1	a0001 a0002 a0024 others(2): Show a0001 a0002 a0024 a0027 a0033	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0020 a0001c0048 a0002c0029 a0024c0042 a0027c0053 a0033c0059	a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 others(12): Show a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0005 a0001c0005t0002 a0001c0006t0001 a0001c0007t0001 a0001c0008t0002 a0001c0020t0004 a0001c0048t0010 a0002c0029t0002 a0024c0042t0001 a0027c0053t0002 a0033c0059t0001	a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0002t0001g0101 others(13): Show a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0002t0001g0101 a0001c0003t0001g0117 a0001c0004t0001g0051 a0001c0004t0005g0179 a0001c0005t0002g0009 a0001c0006t0001g0082 a0001c0007t0001g0050 a0001c0008t0002g0034 a0001c0020t0004g0162 a0001c0048t0010g0178 a0002c0029t0002g0031 a0024c0042t0001g0043 a0027c0053t0002g0021 a0033c0059t0001g0060	16	184	0.0870	-12	c.544 others(29): Show c.544+3445_544+3456delGAAAGAAAGAAA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	4/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103796891	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp2 HG03540.hp2 HG01891.hp2 HG02717.hp2 HG03540.hp2	a0001 a0006 a0031 a0001 a0006 a0031	a0001c0008 a0006c0013 a0031c0034 a0001c0008 a0006c0013 a0031c0034	a0001c0008t0008 a0006c0013t0002 a0031c0034t0001 a0001c0008t0008 a0006c0013t0002 a0031c0034t0001	a0001c0008t0008g0001 a0006c0013t0002g0018 a0031c0034t0001g0121 a0001c0008t0008g0001 a0006c0013t0002g0018 a0031c0034t0001g0121	3	184	0.0163	-12	c.474 others(31): Show c.474-20276_474-20265delCTTTCTTTCTTT		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	3/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103796899	GAAAGAAA others(5): Show GAAAGAAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19086.hp1 HG03130.hp2 NA19086.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0006t0001 a0001c0005t0001 a0001c0006t0001	a0001c0005t0001g0037 a0001c0006t0001g0047 a0001c0005t0001g0037 a0001c0006t0001g0047	2	184	0.0109	-12	c.474 others(31): Show c.474-20284_474-20273delTTCTTTTTCTTT		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	3/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103824627	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02723.hp2 HG03453.hp1 others(5): Show HG01175.hp1 HG02723.hp2 HG03453.hp1 HG03516.hp2 NA19043.hp1 NA19062.hp2 NA19091.hp2 NA20300.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0015 a0034	a0001c0003 a0001c0011 a0001c0019 others(5): Show a0001c0003 a0001c0011 a0001c0019 a0001c0037 a0002c0029 a0004c0017 a0015c0076 a0034c0072	a0001c0003t0001 a0001c0011t0001 a0001c0019t0001 others(5): Show a0001c0003t0001 a0001c0011t0001 a0001c0019t0001 a0001c0037t0001 a0002c0029t0002 a0004c0017t0004 a0015c0076t0015 a0034c0072t0001	a0001c0003t0001g0105 a0001c0011t0001g0119 a0001c0019t0001g0069 others(5): Show a0001c0003t0001g0105 a0001c0011t0001g0119 a0001c0019t0001g0069 a0001c0037t0001g0078 a0002c0029t0002g0031 a0004c0017t0004g0163 a0015c0076t0015g0150 a0034c0072t0001g0127	8	184	0.0435	-12	c.473 others(29): Show c.473+8898_473+8909delACACACACACAC		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	3/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103862409	TTCTATCT others(5): Show TTCTATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG03453.hp2 others(2): Show HG02717.hp2 HG02723.hp2 HG03453.hp2 HG03492.hp1 NA19076.hp1	a0001 a0002 a0015 others(1): Show a0001 a0002 a0015 a0031	a0001c0002 a0001c0005 a0002c0021 others(2): Show a0001c0002 a0001c0005 a0002c0021 a0015c0076 a0031c0034	a0001c0002t0005 a0001c0005t0002 a0002c0021t0001 others(2): Show a0001c0002t0005 a0001c0005t0002 a0002c0021t0001 a0015c0076t0015 a0031c0034t0001	a0001c0002t0005g0183 a0001c0005t0002g0032 a0002c0021t0001g0140 others(2): Show a0001c0002t0005g0183 a0001c0005t0002g0032 a0002c0021t0001g0140 a0015c0076t0015g0150 a0031c0034t0001g0121	5	184	0.0272	-12	c.338 others(31): Show c.338-28749_338-28738delTAGATAGATAGA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	2/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103924985	TACACATA others(5): Show TACACATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01928.hp2 HG06807.hp2 others(1): Show HG01169.hp2 HG01928.hp2 HG06807.hp2 NA18965.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0011 a0002c0009 others(1): Show a0001c0001 a0001c0011 a0002c0009 a0003c0016	a0001c0001t0001 a0001c0011t0002 a0002c0009t0001 others(1): Show a0001c0001t0001 a0001c0011t0002 a0002c0009t0001 a0003c0016t0001	a0001c0001t0001g0111 a0001c0011t0002g0014 a0002c0009t0001g0074 others(1): Show a0001c0001t0001g0111 a0001c0011t0002g0014 a0002c0009t0001g0074 a0003c0016t0001g0098	4	184	0.0217	-12	c.227 others(29): Show c.227-7812_227-7801delGTGTGTATGTGT		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103930721	CCTCCCCA others(5): Show CCTCCCCAAAGTA	C C	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18957.hp2 NA18952.hp1 NA18957.hp2	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0001 a0003c0028t0001	a0003c0028t0001g0095 a0003c0028t0001g0146 a0003c0028t0001g0095 a0003c0028t0001g0146	2	184	0.0109	-12	c.227 others(31): Show c.227-13548_227-13537delTACTTTGGGGAG		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103930868	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02970.hp2 HG02615.hp2 HG02970.hp2	a0001 a0022 a0001 a0022	a0001c0025 a0022c0033 a0001c0025 a0022c0033	a0001c0025t0001 a0022c0033t0001 a0001c0025t0001 a0022c0033t0001	a0001c0025t0001g0072 a0022c0033t0001g0148 a0001c0025t0001g0072 a0022c0033t0001g0148	2	184	0.0109	-12	c.227 others(31): Show c.227-13695_227-13684delCACACACACACA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103986930	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03130.hp2 HG03453.hp1 others(2): Show HG02717.hp1 HG03130.hp2 HG03453.hp1 HG03540.hp1 NA18747.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0005 a0002c0029 others(1): Show a0001c0002 a0001c0005 a0002c0029 a0008c0026	a0001c0002t0001 a0001c0005t0001 a0002c0029t0002 others(1): Show a0001c0002t0001 a0001c0005t0001 a0002c0029t0002 a0008c0026t0006	a0001c0002t0001g0101 a0001c0005t0001g0037 a0002c0029t0002g0031 others(2): Show a0001c0002t0001g0101 a0001c0005t0001g0037 a0002c0029t0002g0031 a0008c0026t0006g0039 a0008c0026t0006g0040	5	184	0.0272	-12	c.226 others(29): Show c.226+2189_226+2200delCACACACACACA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64						chr7	TogoVar
REL_chr2_60876574_60936612	60906845	GTGTGTGT others(5): Show GTGTGTGTATGTA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02486.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0181 a0001c0001t0006g0182	2	276	0.0073	-12	c.394 others(29): Show c.394+5770_394+5781delATGTATGTGTGT		REL	ENSG00000162924.16	transcript	ENST00000394479.4	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
REM1_chr20_31470288_31489895	31480188	AAGATAGA others(5): Show AAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01123.hp1 HG01192.hp2 others(12): Show HG00323.hp2 HG01123.hp1 HG01192.hp2 HG01257.hp2 HG01346.hp2 HG01433.hp2 HG02109.hp1 HG02523.hp1 HG03139.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA19043.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005	a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0042 others(5): Show a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0004g0089 a0002c0002t0005g0022	15	344	0.0436	-12	c.424 others(29): Show c.424-2067_424-2056delTAGATAGATAGA		REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
REM1_chr20_31470288_31489895	31480236	TACATACA others(5): Show TACATACATACAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp2 NA18522.hp2 HG03139.hp2 HG03225.hp2 NA18522.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0001 a0007c0008t0001 a0002c0002t0001 a0007c0008t0001	a0002c0002t0001g0045 a0002c0002t0001g0104 a0007c0008t0001g0108 a0002c0002t0001g0045 a0002c0002t0001g0104 a0007c0008t0001g0108	3	344	0.0087	-12	c.424 others(29): Show c.424-2039_424-2028delCACATACATACA		REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
REM1_chr20_31470288_31489895	31486407	CAGAGAGA others(5): Show CAGAGAGAGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01099.hp1 others(14): Show HG00597.hp1 HG00597.hp2 HG01099.hp1 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01433.hp1 HG01928.hp1 HG01978.hp2 HG02040.hp1 HG02293.hp1 HG02559.hp2 HG03669.hp2 NA18955.hp1 NA18970.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0060 a0001c0001t0001g0083 a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0003t0001g0054 a0002c0003t0002g0006 a0002c0003t0002g0009 a0002c0003t0002g0056	17	344	0.0494	-12	c.19 others(23): Show c.1978_*1989delAGAGAGAGAGAG		REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding					1513		chr20	TogoVar
REM2_chr14_22878222_22892678	22883255	TGCACACG others(5): Show TGCACACGCACAC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01175.hp2 HG02056.hp2 others(5): Show HG01069.hp2 HG01175.hp2 HG02056.hp2 HG02071.hp1 NA18974.hp1 NA18982.hp2 NA18998.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0010	8	392	0.0204	-12	c.-14 others(18): Show c.-14_-3delGCACACGCACAC		REM2	ENSG00000139890.10	transcript	ENST00000267396.9	protein_coding	1/5				3	INFO_REALIGN_3_PRIME	chr14	TogoVar
RENBP_chrX_153930269_153949643	153937197	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG03130.hp1 others(2): Show HG01884.hp2 HG02622.hp1 HG03130.hp1 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0074 a0001c0001t0001g0009 a0001c0001t0001g0074	5	297	0.0168	-12	c.107 others(31): Show c.1078-1633_1078-1622delATTTATTTATTT		RENBP	ENSG00000102032.13	transcript	ENST00000393700.8	protein_coding	9/10						chrX	TogoVar
REN_chr1_204149819_204171337	204152092	CCCGGCCC others(5): Show CCCGGCCCGCGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	432	0.0023	-12	c.29 others(23): Show c.2912_*2923delCCCGCGGGCCGG		REN	ENSG00000143839.15	transcript	ENST00000272190.9	protein_coding					2726		chr1	TogoVar
REPIN1_chr7_150363822_150379039	150366875	AAAATAAA others(5): Show AAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01515.hp1 HG00280.hp1 HG00280.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	400	0.0075	-12	c.-21 others(23): Show c.-2107_-2096delAAATAAATAAAT		REPIN1	ENSG00000214022.12	transcript	ENST00000489432.7	protein_coding					1946		chr7	TogoVar
REPIN1_chr7_150363822_150379039	150372306	GCCGCCAG others(5): Show GCCGCCAGGGGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00597.hp1 HG00735.hp2 HG01243.hp2 others(58): Show HG00597.hp1 HG00735.hp2 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG02055.hp1 HG02109.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp1 NA18965.hp1 NA18973.hp2 NA18994.hp2 NA19030.hp2 NA19043.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp2	a0003 a0004 a0008 others(1): Show a0003 a0004 a0008 a0009	a0003c0003 a0004c0004 a0004c0014 others(2): Show a0003c0003 a0004c0004 a0004c0014 a0008c0010 a0009c0008	a0003c0003t0002 a0003c0003t0011 a0003c0003t0013 others(8): Show a0003c0003t0002 a0003c0003t0011 a0003c0003t0013 a0004c0004t0002 a0004c0004t0003 a0004c0004t0005 a0004c0004t0006 a0004c0004t0017 a0004c0014t0003 a0008c0010t0003 a0009c0008t0002	a0003c0003t0002g0002 a0003c0003t0011g0002 a0003c0003t0013g0002 others(8): Show a0003c0003t0002g0002 a0003c0003t0011g0002 a0003c0003t0013g0002 a0004c0004t0002g0004 a0004c0004t0003g0001 a0004c0004t0005g0001 a0004c0004t0006g0005 a0004c0004t0017g0001 a0004c0014t0003g0001 a0008c0010t0003g0001 a0009c0008t0002g0004	61	400	0.1525	-12	c.124 others(21): Show c.1244_1255delGGGCCCCGCCAG	p.Gly others(13): Show p.Gly415_Pro418del	REPIN1	ENSG00000214022.12	transcript	ENST00000489432.7	protein_coding	3/3	1405/3130	1244/1875	415/624		INFO_REALIGN_3_PRIME	chr7	TogoVar
REPS1_chr6_138898493_138993253	138916218	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03516.hp1 HG03225.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0129 a0001c0013t0001g0130 a0001c0001t0001g0129 a0001c0013t0001g0130	2	390	0.0051	-12	c.160 others(29): Show c.1602-254_1602-243delAAAAAAAAAAAA		REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	13/19						chr6	TogoVar
REPS1_chr6_138898493_138993253	138947035	GCTCTCTC others(5): Show GCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02723.hp2 others(3): Show HG02630.hp1 HG02717.hp2 HG02723.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0014 a0001c0002t0015 a0001c0001t0001 a0001c0002t0014 a0001c0002t0015	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0002t0014g0385 others(3): Show a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0002t0014g0385 a0001c0002t0014g0386 a0001c0002t0015g0383 a0001c0002t0015g0384	6	390	0.0154	-12	c.277 others(27): Show c.277+743_277+754delAGAGAGAGAGAG		REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	2/19						chr6	TogoVar
REPS1_chr6_138898493_138993253	138955457	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA20300.hp2 HG02922.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0023 a0001c0001t0022 a0001c0001t0023	a0001c0001t0022g0099 a0001c0001t0023g0098 a0001c0001t0022g0099 a0001c0001t0023g0098	2	390	0.0051	-12	c.154 others(29): Show c.154-7556_154-7545delACACACACACAC		REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19						chr6	TogoVar
REPS1_chr6_138898493_138993253	138987932	ACGGCTCC others(5): Show ACGGCTCCGGCTC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00738.hp2 others(68): Show HG00423.hp2 HG00438.hp1 HG00738.hp2 HG00741.hp1 HG01891.hp1 HG02040.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03927.hp1 HG03942.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18946.hp1 NA18951.hp1 NA18955.hp1 NA18959.hp2 NA18965.hp2 NA18969.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA18998.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19079.hp2 NA19082.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0005c0005	a0001c0001t0003 a0001c0001t0026 a0001c0002t0003 others(6): Show a0001c0001t0003 a0001c0001t0026 a0001c0002t0003 a0001c0002t0014 a0001c0002t0015 a0001c0002t0027 a0001c0002t0028 a0003c0004t0003 a0005c0005t0003	a0001c0001t0003g0324 a0001c0001t0026g0306 a0001c0002t0003g0318 others(68): Show a0001c0001t0003g0324 a0001c0001t0026g0306 a0001c0002t0003g0318 a0001c0002t0003g0319 a0001c0002t0003g0320 a0001c0002t0003g0321 a0001c0002t0003g0325 a0001c0002t0003g0326 a0001c0002t0003g0327 a0001c0002t0003g0328 a0001c0002t0003g0329 a0001c0002t0003g0330 a0001c0002t0003g0331 a0001c0002t0003g0332 a0001c0002t0003g0333 a0001c0002t0003g0334 a0001c0002t0003g0335 a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0003g0338 a0001c0002t0003g0339 a0001c0002t0003g0340 a0001c0002t0003g0341 a0001c0002t0003g0342 a0001c0002t0003g0343 a0001c0002t0003g0344 a0001c0002t0003g0345 a0001c0002t0003g0346 a0001c0002t0003g0347 a0001c0002t0003g0348 a0001c0002t0003g0349 a0001c0002t0003g0350 a0001c0002t0003g0352 a0001c0002t0003g0353 a0001c0002t0003g0354 a0001c0002t0003g0355 a0001c0002t0003g0356 a0001c0002t0003g0357 a0001c0002t0003g0358 a0001c0002t0003g0359 a0001c0002t0003g0360 a0001c0002t0003g0361 a0001c0002t0003g0362 a0001c0002t0003g0363 a0001c0002t0003g0364 a0001c0002t0003g0365 a0001c0002t0003g0366 a0001c0002t0003g0367 a0001c0002t0003g0368 a0001c0002t0003g0369 a0001c0002t0003g0370 a0001c0002t0003g0371 a0001c0002t0003g0372 a0001c0002t0003g0373 a0001c0002t0003g0374 a0001c0002t0003g0375 a0001c0002t0003g0376 a0001c0002t0003g0377 a0001c0002t0003g0378 a0001c0002t0003g0379 a0001c0002t0014g0385 a0001c0002t0014g0386 a0001c0002t0015g0383 a0001c0002t0015g0384 a0001c0002t0027g0309 a0001c0002t0028g0351 a0003c0004t0003g0315 a0003c0004t0003g0316 a0003c0004t0003g0317 a0005c0005t0003g0322 a0005c0005t0003g0323	71	390	0.1821	-12	c.-26 others(21): Show c.-262_-251delGAGCCGGAGCCG		REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/20				251		chr6	TogoVar
REPS1_chr6_138898493_138993253	138992178	TACACACA others(5): Show TACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp2 others(101): Show HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02165.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02735.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18982.hp1 NA18984.hp2 NA18988.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19010.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0007 a0008 others(1): Show a0001 a0007 a0008 a0009	a0001c0001 a0007c0009 a0008c0010 others(1): Show a0001c0001 a0007c0009 a0008c0010 a0009c0008	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0025 a0007c0009t0001 a0008c0010t0001 a0009c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0132 others(99): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0265 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0010g0007 a0001c0001t0010g0008 a0001c0001t0011g0216 a0001c0001t0013g0380 a0001c0001t0013g0381 a0001c0001t0016g0005 a0001c0001t0019g0013 a0001c0001t0025g0217 a0007c0009t0001g0303 a0008c0010t0001g0171 a0009c0008t0001g0138	104	390	0.2667	-12	c.-45 others(23): Show c.-4508_-4497delGTGTGTGTGTGT		REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding					3926		chr6	TogoVar
REPS2_chrX_16941658_17158272	16951549	ACACACAC others(5): Show ACACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01074.hp1 HG03710.hp1 HG00438.hp2 HG01074.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106	3	166	0.0181	-12	c.273 others(29): Show c.273+4417_273+4428delACACACACACCC		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	16953100	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02738.hp1 HG02922.hp1 others(5): Show HG02258.hp1 HG02738.hp1 HG02922.hp1 HG02922.hp2 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018	a0001c0001t0001g0031 a0001c0001t0002g0112 a0001c0001t0002g0128 others(5): Show a0001c0001t0001g0031 a0001c0001t0002g0112 a0001c0001t0002g0128 a0001c0001t0009g0136 a0001c0001t0009g0141 a0001c0001t0010g0139 a0001c0001t0010g0140 a0001c0001t0018g0057	8	166	0.0482	-12	c.273 others(29): Show c.273+6000_273+6011delCACACACACACA		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	16962276	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19030.hp1 HG02257.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0056 a0001c0001t0027g0115 a0001c0001t0001g0056 a0001c0001t0027g0115	2	166	0.0121	-12	c.273 others(31): Show c.273+15180_273+15191delCACACACACACA		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17087924	CGATAGAT others(5): Show CGATAGATAGATA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01934.hp1 HG02015.hp1 others(8): Show HG00735.hp2 HG01934.hp1 HG02015.hp1 HG02027.hp1 HG03486.hp1 NA18944.hp1 NA18946.hp2 NA18965.hp1 NA18982.hp1 NA19005.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0019 a0001c0001t0028	a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0076 others(8): Show a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0095 a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0013g0030 a0001c0001t0019g0101 a0001c0001t0028g0135	11	166	0.0663	-12	c.151 others(33): Show c.1516+10562_1516+10573delGATAGATAGATA		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	13/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17140735	ATATTATT others(5): Show ATATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0057 a0001c0001t0018g0057	1	166	0.0060	-12	c.191 others(31): Show c.1914+1815_1914+1826delATTATTATTATT		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	17/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8372265	AGAAGCTG others(5): Show AGAAGCTGACATG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	204	0.0049	-12	c.128 others(31): Show c.1285-6303_1285-6292delCATGTCAGCTTC		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8386022	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0002 a0001c0004t0010 a0001c0005t0009 a0001c0002t0002 a0001c0004t0010 a0001c0005t0009	a0001c0002t0002g0179 a0001c0004t0010g0142 a0001c0005t0009g0200 a0001c0002t0002g0179 a0001c0004t0010g0142 a0001c0005t0009g0200	3	204	0.0147	-12	c.128 others(33): Show c.1285-20060_1285-20049delAAAAAAAAAAAA		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8401034	AAACCATA others(5): Show AAACCATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG06807.hp1 HG02145.hp1 HG06807.hp1	a0001 a0007 a0001 a0007	a0001c0009 a0007c0020 a0001c0009 a0007c0020	a0001c0009t0041 a0007c0020t0039 a0001c0009t0041 a0007c0020t0039	a0001c0009t0041g0198 a0007c0020t0039g0197 a0001c0009t0041g0198 a0007c0020t0039g0197	2	204	0.0098	-12	c.128 others(33): Show c.1284+21681_1284+21692delATATATATGGTT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8401038	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02818.hp1 others(6): Show HG02109.hp1 HG02257.hp2 HG02818.hp1 HG02965.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03516.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0019 a0001c0004 a0001c0005 a0001c0019	a0001c0004t0014 a0001c0005t0009 a0001c0005t0019 others(2): Show a0001c0004t0014 a0001c0005t0009 a0001c0005t0019 a0001c0005t0026 a0001c0019t0014	a0001c0004t0014g0126 a0001c0005t0009g0200 a0001c0005t0009g0201 others(6): Show a0001c0004t0014g0126 a0001c0005t0009g0200 a0001c0005t0009g0201 a0001c0005t0009g0202 a0001c0005t0009g0203 a0001c0005t0009g0204 a0001c0005t0019g0030 a0001c0005t0026g0127 a0001c0019t0014g0119	9	204	0.0441	-12	c.128 others(33): Show c.1284+21677_1284+21688delATATATATATAT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8498732	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0186 a0001c0002t0033g0186	1	204	0.0049	-12	c.880 others(29): Show c.880-1215_880-1204delGTGTGTGTGTGT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8499473	CCAGGGAA others(5): Show CCAGGGAATGCTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02723.hp2 HG02280.hp1 HG02451.hp2 HG02723.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0007 a0001c0011t0007	a0001c0011t0007g0027 a0001c0011t0007g0028 a0001c0011t0007g0029 a0001c0011t0007g0027 a0001c0011t0007g0028 a0001c0011t0007g0029	3	204	0.0147	-12	c.880 others(29): Show c.880-1956_880-1945delCAGCATTCCCTG		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8531007	TTCTATCT others(5): Show TTCTATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02004.hp2 HG02647.hp2 others(3): Show HG01167.hp1 HG02004.hp2 HG02647.hp2 HG03225.hp1 HG03225.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0001t0006 a0001c0002t0005 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0005 a0001c0002t0028 a0001c0004t0010 a0001c0010t0007	a0001c0001t0001g0039 a0001c0001t0006g0153 a0001c0002t0005g0129 others(3): Show a0001c0001t0001g0039 a0001c0001t0006g0153 a0001c0002t0005g0129 a0001c0002t0028g0133 a0001c0004t0010g0120 a0001c0010t0007g0026	6	204	0.0294	-12	c.830 others(31): Show c.830+10195_830+10206delTAGATAGATAGA		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8531060	TCTATCTA others(5): Show TCTATCTATCTAA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0021 a0005c0013t0021	a0005c0013t0021g0023 a0005c0013t0021g0023	1	204	0.0049	-12	c.830 others(31): Show c.830+10142_830+10153delTTAGATAGATAG		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8564826	ATGTGTAT others(5): Show ATGTGTATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp2 NA21309.hp1 HG02559.hp1 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0018 a0001c0004t0010 a0001c0005t0026 a0001c0002t0018 a0001c0004t0010 a0001c0005t0026	a0001c0002t0018g0002 a0001c0004t0010g0142 a0001c0005t0026g0127 a0001c0002t0018g0002 a0001c0004t0010g0142 a0001c0005t0026g0127	3	204	0.0147	-12	c.523 others(29): Show c.523-7315_523-7304delCACACATACACA		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8593490	GCTCCTTA others(5): Show GCTCCTTATTTGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG01496.hp1 others(23): Show HG00280.hp2 HG00609.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG02074.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG03491.hp1 HG03688.hp2 HG04115.hp1 NA18944.hp2 NA18964.hp1 NA18983.hp1 NA18985.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19074.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0022 a0002c0006 a0008c0017 a0010c0027	a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 others(11): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0030 a0001c0001t0037 a0001c0001t0038 a0001c0002t0006 a0001c0003t0011 a0001c0007t0003 a0001c0022t0008 a0002c0006t0003 a0002c0006t0024 a0008c0017t0003 a0010c0027t0003	a0001c0001t0003g0088 a0001c0001t0003g0093 a0001c0001t0003g0095 others(23): Show a0001c0001t0003g0088 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0006g0181 a0001c0001t0016g0054 a0001c0001t0030g0143 a0001c0001t0037g0196 a0001c0001t0038g0195 a0001c0002t0006g0145 a0001c0003t0011g0096 a0001c0007t0003g0084 a0001c0007t0003g0098 a0001c0007t0003g0099 a0001c0022t0008g0082 a0002c0006t0003g0089 a0002c0006t0003g0090 a0002c0006t0003g0091 a0002c0006t0003g0094 a0002c0006t0003g0097 a0002c0006t0024g0081 a0008c0017t0003g0101 a0010c0027t0003g0086	26	204	0.1275	-12	c.522 others(31): Show c.522+21059_522+21070delGCAAATAAGGAG		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8601736	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02976.hp2 HG03139.hp1 others(2): Show HG02602.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0019 others(1): Show a0001c0001 a0001c0004 a0001c0019 a0004c0012	a0001c0001t0001 a0001c0004t0005 a0001c0019t0014 others(1): Show a0001c0001t0001 a0001c0004t0005 a0001c0019t0014 a0004c0012t0008	a0001c0001t0001g0073 a0001c0004t0005g0123 a0001c0019t0014g0119 others(2): Show a0001c0001t0001g0073 a0001c0004t0005g0123 a0001c0019t0014g0119 a0004c0012t0008g0137 a0004c0012t0008g0138	5	204	0.0245	-12	c.522 others(31): Show c.522+12813_522+12824delGTGTGTGTGTGT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8604594	AAGGAAGG others(5): Show AAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03491.hp1 HG02723.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0006 a0001c0002t0005 a0001c0002t0006	a0001c0002t0005g0110 a0001c0002t0006g0145 a0001c0002t0005g0110 a0001c0002t0006g0145	2	204	0.0098	-12	c.522 others(29): Show c.522+9955_522+9966delCCCTCCCTTCCT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8604614	GAGGGAGG others(5): Show GAGGGAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0035 a0001c0003t0004g0035	1	204	0.0049	-12	c.522 others(29): Show c.522+9935_522+9946delTCCTCCCTCCCT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8604618	GAGGGAGG others(5): Show GAGGGAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02896.hp1 HG01517.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0037 a0001c0015t0001 a0001c0001t0037 a0001c0015t0001	a0001c0001t0037g0196 a0001c0015t0001g0009 a0001c0001t0037g0196 a0001c0015t0001g0009	2	204	0.0098	-12	c.522 others(29): Show c.522+9931_522+9942delTCCTTCCTCCCT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22						chr1	TogoVar

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