Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EMILIN2_chr18_2842006_2921003	2858569	A A	ATATATAT others(1): Show ATATATATG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01981.hp2 HG02083.hp1 others(4): Show HG01515.hp1 HG01981.hp2 HG02083.hp1 HG02683.hp2 HG03654.hp1 NA18997.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0011 a0001c0001t0017 a0001c0002t0001 others(3): Show a0001c0001t0011 a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0013t0002	a0001c0001t0011g0323 a0001c0001t0011g0420 a0001c0001t0017g0389 others(4): Show a0001c0001t0011g0323 a0001c0001t0011g0420 a0001c0001t0017g0389 a0001c0002t0001g0218 a0001c0002t0003g0324 a0001c0003t0001g0302 a0001c0013t0002g0009	7	452	0.0155	8	c.257 others(27): Show c.257+10639_257+10640insATATATGT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858569	A A	ATATATGT others(1): Show ATATATGTG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03471.hp2 NA18612.hp1 HG02698.hp1 HG03471.hp2 NA18612.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0020 a0001c0001 a0002c0020	a0001c0001t0001 a0001c0001t0029 a0002c0020t0004 a0001c0001t0001 a0001c0001t0029 a0002c0020t0004	a0001c0001t0001g0382 a0001c0001t0029g0051 a0002c0020t0004g0010 a0001c0001t0001g0382 a0001c0001t0029g0051 a0002c0020t0004g0010	3	452	0.0066	8	c.257 others(27): Show c.257+10639_257+10640insATATGTGT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858581	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG00735.hp1 others(8): Show HG00609.hp1 HG00673.hp1 HG00735.hp1 HG02165.hp2 HG02258.hp1 HG04228.hp1 NA18960.hp2 NA18995.hp2 NA19043.hp2 NA19240.hp2 NA20805.hp2	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0010 a0016c0044	a0001c0001t0003 a0001c0001t0020 a0001c0001t0036 others(6): Show a0001c0001t0003 a0001c0001t0020 a0001c0001t0036 a0001c0001t0041 a0001c0002t0001 a0001c0003t0002 a0001c0004t0003 a0003c0010t0027 a0016c0044t0002	a0001c0001t0003g0273 a0001c0001t0020g0274 a0001c0001t0036g0215 others(8): Show a0001c0001t0003g0273 a0001c0001t0020g0274 a0001c0001t0036g0215 a0001c0001t0041g0126 a0001c0002t0001g0195 a0001c0002t0001g0360 a0001c0003t0002g0199 a0001c0004t0003g0146 a0001c0004t0003g0227 a0003c0010t0027g0275 a0016c0044t0002g0272	11	452	0.0243	8	c.257 others(27): Show c.257+10651_257+10652insATATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858583	G G	GTGTATAT others(1): Show GTGTATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp2 HG03098.hp1 others(1): Show HG00423.hp2 HG01081.hp2 HG03098.hp1 HG03669.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0002 a0001c0001t0006 a0001c0001t0037 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0037 a0004c0011t0002	a0001c0001t0002g0220 a0001c0001t0006g0219 a0001c0001t0037g0426 others(1): Show a0001c0001t0002g0220 a0001c0001t0006g0219 a0001c0001t0037g0426 a0004c0011t0002g0184	4	452	0.0089	8	c.257 others(27): Show c.257+10653_257+10654insGTATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99796186	C C	CAGAGAGA others(1): Show CAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp2 HG02040.hp2 others(7): Show HG00140.hp1 HG01175.hp2 HG02040.hp2 HG02630.hp1 HG02723.hp2 HG02976.hp2 HG03098.hp2 HG06807.hp1 NA18522.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0001 a0001c0003 a0001c0004 a0002c0001	a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 others(3): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0004t0001 a0002c0001t0002 a0002c0001t0003	a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 others(7): Show a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0002g0116 a0001c0003t0007g0117 a0001c0004t0001g0115 a0002c0001t0002g0118 a0002c0001t0002g0151 a0002c0001t0003g0119	10	288	0.0347	8	c.67+ others(23): Show c.67+2681_67+2688dupGAGAGAGA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99838906	T T	TGCGCGCG others(1): Show TGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03471.hp2 NA19005.hp1 HG02559.hp2 HG03471.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0003 a0001c0003t0001 a0002c0001t0003	a0001c0003t0001g0272 a0001c0003t0001g0273 a0002c0001t0003g0189 a0001c0003t0001g0272 a0001c0003t0001g0273 a0002c0001t0003g0189	3	288	0.0104	8	c.68- others(25): Show c.68-11941_68-11934dupCGCGCGCG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99838918	C C	CGCGCGTG others(1): Show CGCGCGTGT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18953.hp1 NA18970.hp2 others(1): Show NA18939.hp1 NA18953.hp1 NA18970.hp2 NA19011.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0056 a0002c0001t0002g0057 a0002c0001t0002g0150 others(1): Show a0002c0001t0002g0056 a0002c0001t0002g0057 a0002c0001t0002g0150 a0002c0001t0002g0151	4	288	0.0139	8	c.68- others(25): Show c.68-11934_68-11933insCGCGTGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99838930	T T	TGTGTGTG others(1): Show TGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp2 HG03041.hp2 others(1): Show HG02630.hp2 HG02818.hp2 HG03041.hp2 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0007 a0001c0003 a0001c0004 a0001c0007	a0001c0003t0002 a0001c0004t0003 a0001c0007t0018 a0001c0003t0002 a0001c0004t0003 a0001c0007t0018	a0001c0003t0002g0105 a0001c0003t0002g0106 a0001c0004t0003g0180 others(1): Show a0001c0003t0002g0105 a0001c0003t0002g0106 a0001c0004t0003g0180 a0001c0007t0018g0241	4	288	0.0139	8	c.68- others(25): Show c.68-11922_68-11921insTGTGTGCG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99919429	C C	CACACACA others(1): Show CACACACAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02083.hp2 HG02622.hp1 others(1): Show HG00609.hp2 HG02083.hp2 HG02622.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0004 a0001c0004t0005 a0001c0003t0004 a0001c0004t0005	a0001c0003t0004g0027 a0001c0003t0004g0141 a0001c0003t0004g0258 others(1): Show a0001c0003t0004g0027 a0001c0003t0004g0141 a0001c0003t0004g0258 a0001c0004t0005g0249	4	288	0.0139	8	c.182 others(27): Show c.1821-1353_1821-1352insGACACACA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99925189	A A	ACTACCTG others(1): Show ACTACCTGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp2 HG01981.hp2 others(1): Show HG01192.hp2 HG01255.hp2 HG01981.hp2 HG02004.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0002 a0003c0002t0001 a0003c0002t0002	a0003c0002t0001g0044 a0003c0002t0001g0055 a0003c0002t0001g0087 others(1): Show a0003c0002t0001g0044 a0003c0002t0001g0055 a0003c0002t0001g0087 a0003c0002t0002g0222	4	288	0.0139	8	c.190 others(27): Show c.1909+4313_1909+4320dupCTACCTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML2_chr19_45604400_45644397	45628824	A A	AAAGTAAG others(1): Show AAAGTAAGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG02055.hp2 others(11): Show HG01074.hp1 HG01243.hp1 HG02055.hp2 HG02280.hp2 HG02486.hp2 HG02630.hp1 HG02647.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0175 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0175 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230	14	382	0.0367	8	c.606 others(25): Show c.606+1119_606+1126dupACTTACTT	EML2	ENSG00000125746.18	transcript	ENST00000245925.8	protein_coding	7/18			chr19	TogoVar
EML2_chr19_45604400_45644397	45628855	G G	GTAAGTAA others(1): Show GTAAGTAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01891.hp1 HG02258.hp1 others(3): Show HG00408.hp2 HG01891.hp1 HG02258.hp1 HG02258.hp2 HG02818.hp2 NA18612.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0002 a0004c0004 a0006c0006 a0002c0002 a0004c0004 a0006c0006	a0002c0002t0001 a0004c0004t0001 a0004c0004t0002 others(1): Show a0002c0002t0001 a0004c0004t0001 a0004c0004t0002 a0006c0006t0002	a0002c0002t0001g0013 a0004c0004t0001g0204 a0004c0004t0002g0124 others(2): Show a0002c0002t0001g0013 a0004c0004t0001g0204 a0004c0004t0002g0124 a0006c0006t0002g0027 a0006c0006t0002g0028	6	382	0.0157	8	c.606 others(25): Show c.606+1095_606+1096insTTTACTTA	EML2	ENSG00000125746.18	transcript	ENST00000245925.8	protein_coding	7/18			chr19	TogoVar
EML3_chr11_62597218_62617775	62603018	C C	CGAGGGCC others(1): Show CGAGGGCCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00621.hp1 others(54): Show HG00140.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG02004.hp1 HG02083.hp1 HG02293.hp1 HG02300.hp1 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04204.hp2 NA18952.hp1 NA18959.hp2 NA18971.hp2 NA18981.hp2 NA19055.hp1 NA19058.hp1 NA19089.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 others(7): Show a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0003t0004	a0001c0001t0006g0073 a0001c0001t0007g0034 a0001c0002t0001g0016 others(12): Show a0001c0001t0006g0073 a0001c0001t0007g0034 a0001c0002t0001g0016 a0001c0002t0002g0002 a0001c0002t0002g0013 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0004g0007 a0001c0002t0006g0019 a0001c0002t0006g0079 a0001c0002t0007g0064 a0001c0002t0008g0029 a0001c0002t0009g0030 a0001c0003t0004g0028	57	312	0.1827	8	c.235 others(25): Show c.2356+130_2357-129insCGGCCCTC	EML3	ENSG00000149499.12	transcript	ENST00000394773.7	protein_coding	20/21			chr11	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01168.hp2 others(4): Show HG00099.hp1 HG00609.hp1 HG01168.hp2 NA18973.hp1 NA18973.hp2 NA19076.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0002c0002t0001	a0001c0001t0002g0230 a0001c0001t0002g0273 a0001c0001t0003g0151 others(4): Show a0001c0001t0002g0230 a0001c0001t0002g0273 a0001c0001t0003g0151 a0001c0001t0005g0329 a0001c0001t0006g0350 a0001c0001t0011g0185 a0002c0002t0001g0106	7	358	0.0196	8	c.26- others(21): Show c.26-400_26-393dupTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325596	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18747.hp1 NA18940.hp1 others(3): Show HG02922.hp1 NA18747.hp1 NA18940.hp1 NA18963.hp2 NA18971.hp2 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0009 a0002c0002t0016 a0002c0002t0001 a0002c0002t0009 a0002c0002t0016	a0002c0002t0001g0018 a0002c0002t0001g0038 a0002c0002t0001g0095 others(3): Show a0002c0002t0001g0018 a0002c0002t0001g0038 a0002c0002t0001g0095 a0002c0002t0001g0098 a0002c0002t0009g0024 a0002c0002t0016g0074	6	358	0.0168	8	c.224 others(23): Show c.2242+47_2242+48insATATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88707270	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG00741.hp2 others(28): Show HG00438.hp2 HG00642.hp2 HG00741.hp2 HG01168.hp1 HG01257.hp1 HG01433.hp2 HG01891.hp2 HG01952.hp1 HG01975.hp2 HG02004.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03486.hp2 HG03516.hp1 HG03710.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18956.hp1 NA18970.hp1 NA18982.hp1 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(10): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0003c0005t0015	a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 others(28): Show a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0168 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0006g0188 a0001c0001t0006g0208 a0001c0001t0006g0284 a0001c0001t0006g0285 a0001c0001t0006g0287 a0001c0001t0008g0099 a0001c0001t0008g0100 a0001c0001t0011g0213 a0001c0001t0014g0006 a0001c0001t0022g0203 a0001c0001t0022g0204 a0001c0001t0023g0197 a0001c0001t0026g0293 a0001c0001t0026g0294 a0001c0001t0027g0295 a0001c0001t0027g0296 a0001c0001t0034g0198 a0001c0001t0035g0196 a0003c0005t0015g0013	31	332	0.0934	8	c.165 others(25): Show c.1658-852_1658-845dupTAAATAAA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	10/43			chr14	TogoVar
EML5_chr14_88607431_88797953	88745163	G G	GTGTTTGT others(1): Show GTGTTTGTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02145.hp1 HG02559.hp2 others(5): Show HG00642.hp2 HG02145.hp1 HG02559.hp2 HG02886.hp1 HG02922.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 others(2): Show a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035	a0001c0001t0023g0195 a0001c0001t0023g0197 a0001c0001t0026g0293 others(5): Show a0001c0001t0023g0195 a0001c0001t0023g0197 a0001c0001t0026g0293 a0001c0001t0026g0294 a0001c0001t0027g0295 a0001c0001t0027g0296 a0001c0001t0034g0198 a0001c0001t0035g0196	8	332	0.0241	8	c.456 others(25): Show c.456+1021_456+1022insAACAAACA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	3/43			chr14	TogoVar
EML5_chr14_88607431_88797953	88759685	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp2 others(34): Show HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00673.hp1 HG01123.hp2 HG01361.hp2 HG01433.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02523.hp1 HG02602.hp1 HG02630.hp1 HG03041.hp2 HG03516.hp1 HG04115.hp1 NA18612.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18971.hp2 NA18978.hp1 NA18983.hp2 NA19002.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19081.hp1 NA19087.hp1 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0025	a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0095 others(34): Show a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0167 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0175 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0189 a0001c0001t0005g0192 a0001c0001t0006g0188 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0012g0325 a0001c0001t0012g0327 a0001c0001t0025g0191	37	332	0.1115	8	c.198 others(25): Show c.198-5022_198-5015dupTTTTTTTT	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	1/43			chr14	TogoVar
EML6_chr2_54718662_54977025	54744905	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02027.hp1 HG02040.hp1 others(6): Show HG01261.hp2 HG02027.hp1 HG02040.hp1 HG02080.hp1 NA18955.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0048 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0048 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0207 others(6): Show a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0001g0249 a0001c0001t0007g0199 a0001c0001t0048g0069 a0001c0002t0001g0219 a0001c0002t0004g0061	9	264	0.0341	8	c.197 others(27): Show c.197+19698_197+19705dupACACACAC	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54767597	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02647.hp1 others(1): Show HG02109.hp1 HG02559.hp2 HG02647.hp1 HG03471.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0004c0035	a0001c0002t0024 a0001c0004t0016 a0001c0005t0001 others(1): Show a0001c0002t0024 a0001c0004t0016 a0001c0005t0001 a0004c0035t0012	a0001c0002t0024g0073 a0001c0004t0016g0082 a0001c0005t0001g0083 others(1): Show a0001c0002t0024g0073 a0001c0004t0016g0082 a0001c0005t0001g0083 a0004c0035t0012g0013	4	264	0.0152	8	c.197 others(27): Show c.197+42366_197+42373dupGTGTGTGT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54797169	A A	AAAAAAAA others(1): Show AAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02559.hp2 others(10): Show HG02109.hp2 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02976.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp1 HG04204.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0016 a0001c0020	a0001c0001t0014 a0001c0004t0007 a0001c0004t0016 others(6): Show a0001c0001t0014 a0001c0004t0007 a0001c0004t0016 a0001c0004t0040 a0001c0005t0001 a0001c0005t0006 a0001c0007t0052 a0001c0016t0001 a0001c0020t0037	a0001c0001t0014g0059 a0001c0004t0007g0002 a0001c0004t0016g0082 others(10): Show a0001c0001t0014g0059 a0001c0004t0007g0002 a0001c0004t0016g0082 a0001c0004t0040g0094 a0001c0005t0001g0079 a0001c0005t0001g0083 a0001c0005t0001g0088 a0001c0005t0001g0092 a0001c0005t0001g0093 a0001c0005t0006g0089 a0001c0007t0052g0001 a0001c0016t0001g0091 a0001c0020t0037g0014	13	264	0.0492	8	c.198 others(27): Show c.198-16056_198-16055insCAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54806612	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02027.hp1 HG03486.hp2 others(2): Show HG00639.hp2 HG02027.hp1 HG03486.hp2 HG04199.hp1 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0014 a0008c0033 a0001c0001 a0001c0014 a0008c0033	a0001c0001t0001 a0001c0001t0005 a0001c0014t0003 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0014t0003 a0008c0033t0001	a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0005g0215 others(2): Show a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0005g0215 a0001c0014t0003g0128 a0008c0033t0001g0208	5	264	0.0189	8	c.198 others(25): Show c.198-6595_198-6588dupAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54823850	T T	TTCTCTCT others(1): Show TTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01433.hp2 others(2): Show HG01070.hp1 HG01071.hp2 HG01433.hp2 HG03486.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0020 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0020 a0001c0002t0041	a0001c0001t0001g0076 a0001c0002t0003g0139 a0001c0002t0003g0140 others(2): Show a0001c0001t0001g0076 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0020g0164 a0001c0002t0041g0095	5	264	0.0189	8	c.525 others(25): Show c.525+3408_525+3415dupCTCTCTCT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54843964	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00558.hp2 others(70): Show HG00099.hp2 HG00323.hp2 HG00558.hp2 HG00642.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02040.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02647.hp2 HG02698.hp2 HG03098.hp2 HG03491.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18999.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19085.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0006 a0008 others(1): Show a0001 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0027 a0001c0030 a0001c0034 a0001c0036 a0006c0032 a0008c0033 a0009c0024	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(38): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0034 a0001c0001t0036 a0001c0001t0048 a0001c0001t0055 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0013 a0001c0002t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0027 a0001c0003t0054 a0001c0004t0001 a0001c0004t0003 a0001c0004t0007 a0001c0004t0033 a0001c0005t0001 a0001c0005t0006 a0001c0009t0005 a0001c0009t0008 a0001c0010t0050 a0001c0011t0012 a0001c0012t0045 a0001c0014t0003 a0001c0015t0043 a0001c0027t0030 a0001c0030t0038 a0001c0034t0047 a0001c0036t0006 a0006c0032t0006 a0008c0033t0001 a0009c0024t0003	a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0001g0076 others(70): Show a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0147 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0202 a0001c0001t0003g0105 a0001c0001t0003g0137 a0001c0001t0005g0043 a0001c0001t0005g0078 a0001c0001t0007g0180 a0001c0001t0007g0239 a0001c0001t0008g0112 a0001c0001t0034g0146 a0001c0001t0036g0174 a0001c0001t0048g0069 a0001c0001t0055g0251 a0001c0002t0003g0114 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0004g0028 a0001c0002t0006g0020 a0001c0002t0010g0025 a0001c0002t0013g0022 a0001c0002t0013g0023 a0001c0002t0013g0024 a0001c0002t0020g0164 a0001c0003t0001g0252 a0001c0003t0002g0150 a0001c0003t0002g0151 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0176 a0001c0003t0002g0192 a0001c0003t0002g0240 a0001c0003t0002g0255 a0001c0003t0002g0257 a0001c0003t0004g0196 a0001c0003t0004g0197 a0001c0003t0009g0097 a0001c0003t0009g0100 a0001c0003t0009g0107 a0001c0003t0027g0149 a0001c0003t0054g0166 a0001c0004t0001g0200 a0001c0004t0001g0228 a0001c0004t0003g0130 a0001c0004t0007g0047 a0001c0004t0007g0185 a0001c0004t0007g0191 a0001c0004t0033g0129 a0001c0005t0001g0220 a0001c0005t0006g0089 a0001c0009t0005g0205 a0001c0009t0008g0133 a0001c0010t0050g0226 a0001c0011t0012g0011 a0001c0012t0045g0233 a0001c0014t0003g0124 a0001c0015t0043g0018 a0001c0027t0030g0135 a0001c0030t0038g0074 a0001c0034t0047g0032 a0001c0036t0006g0007 a0006c0032t0006g0005 a0008c0033t0001g0208 a0009c0024t0003g0110	73	264	0.2765	8	c.848 others(21): Show c.848-50_848-43dupTGTGTGTG	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	7/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54905321	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03704.hp1 HG04228.hp2 HG02615.hp2 HG03704.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010	a0001c0002t0003g0114 a0001c0002t0004g0217 a0001c0002t0010g0054 a0001c0002t0003g0114 a0001c0002t0004g0217 a0001c0002t0010g0054	3	264	0.0114	8	c.340 others(27): Show c.3409+1869_3409+1876dupCACACACA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54923367	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01081.hp1 others(6): Show HG00280.hp1 HG00741.hp2 HG01081.hp1 HG01358.hp1 HG01517.hp1 HG02145.hp2 HG02622.hp1 HG03486.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0018 a0001c0001t0055 a0001c0002t0001 a0001c0002t0032 a0001c0002t0041	a0001c0001t0001g0202 a0001c0001t0005g0231 a0001c0001t0005g0241 others(6): Show a0001c0001t0001g0202 a0001c0001t0005g0231 a0001c0001t0005g0241 a0001c0001t0008g0123 a0001c0001t0018g0037 a0001c0001t0055g0251 a0001c0002t0001g0236 a0001c0002t0032g0141 a0001c0002t0041g0095	9	264	0.0341	8	c.367 others(27): Show c.3676-4915_3676-4908dupCACACACA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	26/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP2_chr16_10523422_10585598	10531748	G G	GATGAATG others(1): Show GATGAATGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 NA18967.hp1 NA18979.hp1 HG00621.hp1 NA18967.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0088 a0001c0001t0033 a0001c0001t0088	a0001c0001t0033g0162 a0001c0001t0033g0223 a0001c0001t0088g0164 a0001c0001t0033g0162 a0001c0001t0033g0223 a0001c0001t0088g0164	3	402	0.0075	8	c.11 others(19): Show c.1149_*1156dupTCATTCAT	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	5/5	1156		chr16	TogoVar
EMP2_chr16_10523422_10585598	10540507	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp1 others(60): Show HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG01099.hp1 HG01109.hp2 HG01169.hp2 HG01256.hp1 HG01258.hp1 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02165.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02738.hp1 HG02818.hp1 HG03017.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18954.hp1 NA18963.hp2 NA18969.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA19003.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19060.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0051 a0001c0001t0063 a0001c0001t0077 a0001c0001t0088 a0001c0001t0089 a0001c0001t0093 a0001c0001t0097 a0001c0001t0112 a0001c0001t0113 a0001c0001t0118 a0001c0001t0134 a0001c0002t0001 a0001c0002t0005 a0001c0002t0071	a0001c0001t0001g0227 a0001c0001t0001g0312 a0001c0001t0001g0316 others(60): Show a0001c0001t0001g0227 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0002g0161 a0001c0001t0002g0271 a0001c0001t0003g0309 a0001c0001t0004g0107 a0001c0001t0004g0122 a0001c0001t0004g0236 a0001c0001t0004g0288 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0005g0133 a0001c0001t0005g0285 a0001c0001t0005g0301 a0001c0001t0005g0321 a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0005g0365 a0001c0001t0007g0015 a0001c0001t0007g0146 a0001c0001t0007g0383 a0001c0001t0010g0023 a0001c0001t0013g0057 a0001c0001t0013g0061 a0001c0001t0013g0065 a0001c0001t0013g0284 a0001c0001t0013g0307 a0001c0001t0013g0355 a0001c0001t0014g0193 a0001c0001t0014g0354 a0001c0001t0018g0041 a0001c0001t0020g0336 a0001c0001t0023g0053 a0001c0001t0023g0102 a0001c0001t0025g0139 a0001c0001t0027g0191 a0001c0001t0027g0295 a0001c0001t0028g0153 a0001c0001t0030g0279 a0001c0001t0030g0282 a0001c0001t0033g0223 a0001c0001t0035g0123 a0001c0001t0035g0124 a0001c0001t0036g0315 a0001c0001t0037g0294 a0001c0001t0051g0275 a0001c0001t0063g0325 a0001c0001t0077g0034 a0001c0001t0088g0164 a0001c0001t0089g0270 a0001c0001t0093g0320 a0001c0001t0097g0039 a0001c0001t0112g0115 a0001c0001t0113g0228 a0001c0001t0118g0241 a0001c0001t0134g0291 a0001c0002t0001g0126 a0001c0002t0001g0292 a0001c0002t0005g0317 a0001c0002t0005g0319 a0001c0002t0071g0272	63	402	0.1567	8	c.170 others(25): Show c.170-2441_170-2434dupATTTATTT	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	3/4			chr16	TogoVar
EMP2_chr16_10523422_10585598	10549729	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp2 HG02818.hp2 others(3): Show HG01884.hp2 HG02622.hp2 HG02818.hp2 HG03098.hp1 HG03195.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0045 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0045 a0001c0002t0002 a0001c0002t0034 a0001c0002t0095	a0001c0001t0004g0398 a0001c0001t0007g0212 a0001c0001t0045g0380 others(3): Show a0001c0001t0004g0398 a0001c0001t0007g0212 a0001c0001t0045g0380 a0001c0002t0002g0400 a0001c0002t0034g0253 a0001c0002t0095g0018	6	402	0.0149	8	c.-60 others(25): Show c.-60-2060_-60-2053dupTGTGTGTG	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
EMP2_chr16_10523422_10585598	10562336	T T	TTCTCTCT others(1): Show TTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02083.hp2 HG02135.hp2 others(19): Show HG02015.hp1 HG02083.hp2 HG02135.hp2 HG02523.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02922.hp2 HG03486.hp2 HG03579.hp1 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp2 NA18940.hp2 NA18964.hp1 NA19010.hp1 NA19043.hp1 NA19081.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0027 a0001c0001t0081 a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 a0001c0002t0017 a0001c0002t0031 a0001c0002t0050 a0001c0007t0105 a0002c0003t0010	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0348 others(19): Show a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0348 a0001c0001t0003g0183 a0001c0001t0003g0379 a0001c0001t0006g0216 a0001c0001t0006g0358 a0001c0001t0014g0354 a0001c0001t0015g0382 a0001c0001t0015g0384 a0001c0001t0015g0385 a0001c0001t0022g0269 a0001c0001t0027g0196 a0001c0001t0081g0205 a0001c0002t0002g0356 a0001c0002t0005g0317 a0001c0002t0012g0391 a0001c0002t0017g0213 a0001c0002t0031g0093 a0001c0002t0050g0339 a0001c0007t0105g0323 a0002c0003t0010g0110	22	402	0.0547	8	c.-60 others(27): Show c.-60-14667_-60-14660dupGAGAGAGA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
EMP2_chr16_10523422_10585598	10575237	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01175.hp1 others(6): Show HG01070.hp1 HG01071.hp1 HG01175.hp1 HG01258.hp2 HG02055.hp2 HG02109.hp2 NA18980.hp1 NA18994.hp2 NA19058.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 a0001c0001t0070 a0001c0001t0116 a0001c0002t0002 a0001c0002t0012 a0001c0002t0132 a0003c0005t0012	a0001c0001t0001g0143 a0001c0001t0003g0337 a0001c0001t0023g0102 others(6): Show a0001c0001t0001g0143 a0001c0001t0003g0337 a0001c0001t0023g0102 a0001c0001t0070g0338 a0001c0001t0116g0375 a0001c0002t0002g0045 a0001c0002t0012g0101 a0001c0002t0132g0100 a0003c0005t0012g0257	9	402	0.0224	8	c.-61 others(25): Show c.-61+5304_-61+5311dupAAAAAAAA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
EMP2_chr16_10523422_10585598	10579708	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG01074.hp2 others(29): Show HG00323.hp2 HG00597.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02155.hp1 HG02293.hp2 HG02559.hp1 HG02602.hp1 HG02738.hp1 HG02965.hp2 HG03225.hp1 HG03491.hp2 HG03834.hp1 HG04204.hp2 NA18945.hp2 NA18947.hp1 NA18953.hp2 NA18977.hp1 NA19011.hp2 NA19043.hp1 NA19057.hp1 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0001t0029 a0001c0001t0032 a0001c0001t0036 a0001c0001t0055 a0001c0001t0056 a0001c0001t0063 a0001c0001t0091 a0001c0001t0093 a0001c0001t0104 a0001c0001t0107 a0001c0001t0111 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0047 a0001c0007t0105	a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0316 others(29): Show a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0003g0309 a0001c0001t0003g0328 a0001c0001t0005g0321 a0001c0001t0005g0327 a0001c0001t0007g0390 a0001c0001t0008g0329 a0001c0001t0009g0313 a0001c0001t0019g0326 a0001c0001t0029g0150 a0001c0001t0032g0308 a0001c0001t0036g0315 a0001c0001t0055g0211 a0001c0001t0056g0210 a0001c0001t0063g0325 a0001c0001t0091g0322 a0001c0001t0093g0320 a0001c0001t0104g0324 a0001c0001t0107g0389 a0001c0001t0111g0151 a0001c0002t0001g0331 a0001c0002t0003g0310 a0001c0002t0004g0314 a0001c0002t0005g0317 a0001c0002t0005g0319 a0001c0002t0012g0391 a0001c0002t0047g0318 a0001c0007t0105g0323	32	402	0.0796	8	c.-61 others(23): Show c.-61+833_-61+840dupTGTGTGTG	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
EMP2_chr16_10523422_10585598	10581290	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02630.hp1 HG03195.hp1 others(2): Show HG02486.hp1 HG02630.hp1 HG03195.hp1 NA18977.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0002t0002 a0001c0002t0017	a0001c0001t0003g0328 a0001c0001t0005g0327 a0001c0001t0007g0212 others(2): Show a0001c0001t0003g0328 a0001c0001t0005g0327 a0001c0001t0007g0212 a0001c0002t0002g0206 a0001c0002t0017g0213	5	402	0.0124	8	c.-80 others(17): Show c.-803_-802insGTGTGTGT	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding		693		chr16	TogoVar
EMP2_chr16_10523422_10585598	10581967	T T	TTGTGTGT others(1): Show TTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01884.hp2 others(11): Show HG00735.hp1 HG00735.hp2 HG01884.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03453.hp2 HG03540.hp2 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 others(9): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0052 a0001c0001t0098 a0001c0001t0114 a0001c0001t0121 a0001c0002t0001 a0001c0002t0011 a0001c0002t0054 a0001c0002t0095 a0002c0003t0007	a0001c0001t0004g0185 a0001c0001t0007g0007 a0001c0001t0007g0013 others(11): Show a0001c0001t0004g0185 a0001c0001t0007g0007 a0001c0001t0007g0013 a0001c0001t0010g0010 a0001c0001t0052g0022 a0001c0001t0098g0190 a0001c0001t0114g0005 a0001c0001t0121g0016 a0001c0002t0001g0189 a0001c0002t0011g0011 a0001c0002t0011g0019 a0001c0002t0054g0021 a0001c0002t0095g0018 a0002c0003t0007g0147	14	402	0.0348	8	c.-14 others(19): Show c.-1480_-1479insCACACACA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding		1370		chr16	TogoVar
EMP3_chr19_48320552_48335553	48331198	C C	CTCTTTTT others(1): Show CTCTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG01256.hp2 others(21): Show HG00423.hp1 HG00673.hp2 HG01256.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG02129.hp1 HG03017.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2 NA18945.hp1 NA18946.hp1 NA18951.hp1 NA18953.hp1 NA18971.hp1 NA18982.hp1 NA19012.hp1 NA19055.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19091.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0025 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0025 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0039	24	376	0.0638	8	c.72 others(17): Show c.728_*729insTCTTTTTT	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding		646		chr19	TogoVar
EMP3_chr19_48320552_48335553	48334416	C C	CTCTTTCT others(1): Show CTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01361.hp2 HG02602.hp2 others(2): Show HG01258.hp2 HG01361.hp2 HG02602.hp2 NA18964.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0001c0001t0001 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0060 a0001c0001t0001g0064 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0006g0004 a0002c0002t0001g0001	5	376	0.0133	8	c.39 others(19): Show c.3946_*3947insTCTTTCTT	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding		3864		chr19	TogoVar
EMSY_chr11_76440018_76558031	76446349	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG02922.hp1 others(3): Show HG02630.hp2 HG02717.hp1 HG02922.hp1 HG03195.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 others(3): Show a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0356	6	360	0.0167	8	c.-39 others(23): Show c.-39-545_-39-538dupATATATAT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
EMSY_chr11_76440018_76558031	76518684	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01952.hp1 HG02004.hp2 others(15): Show HG01175.hp1 HG01952.hp1 HG02004.hp2 HG02273.hp1 HG02523.hp1 NA18942.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18973.hp2 NA18984.hp2 NA18988.hp2 NA18990.hp2 NA19003.hp2 NA19009.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0123 others(15): Show a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0123 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0153 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0007g0124 a0001c0001t0007g0126 a0001c0001t0007g0129 a0001c0001t0007g0130	18	360	0.0500	8	c.172 others(27): Show c.1729+2385_1729+2392dupATATATAT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
EMSY_chr11_76440018_76558031	76518703	A A	ATATATAT others(1): Show ATATATATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01099.hp2 HG01346.hp2 others(36): Show HG00408.hp2 HG01099.hp2 HG01346.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp2 HG02293.hp1 HG02738.hp1 HG03017.hp1 HG03453.hp1 HG03704.hp2 HG03927.hp1 HG04115.hp1 HG04228.hp1 NA18939.hp2 NA18940.hp1 NA18950.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18982.hp1 NA18997.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19057.hp2 NA19077.hp1 NA19079.hp2 NA19083.hp1 NA19086.hp1 NA19089.hp2 NA19090.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0004c0007t0002	a0001c0001t0002g0008 a0001c0001t0002g0093 a0001c0001t0002g0106 others(36): Show a0001c0001t0002g0008 a0001c0001t0002g0093 a0001c0001t0002g0106 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0122 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0245 a0001c0001t0007g0128 a0001c0001t0013g0320 a0004c0007t0002g0121	39	360	0.1083	8	c.172 others(27): Show c.1729+2392_1729+2393insATATATTT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
EMSY_chr11_76440018_76558031	76518703	A A	ATATATTT others(1): Show ATATATTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01993.hp2 HG02300.hp2 others(8): Show HG01192.hp2 HG01993.hp2 HG02300.hp2 HG03834.hp1 NA18966.hp1 NA18983.hp1 NA18993.hp2 NA18994.hp1 NA19006.hp1 NA19060.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0116 others(8): Show a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0278 a0001c0001t0003g0223	11	360	0.0306	8	c.172 others(27): Show c.1729+2392_1729+2393insATATTTTT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
EMX1_chr2_72912519_72939891	72919180	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02630.hp2 HG02970.hp2 others(4): Show HG01975.hp2 HG02630.hp2 HG02970.hp2 HG03491.hp1 NA18959.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0052 a0001c0001t0002g0022 a0001c0001t0002g0051 others(3): Show a0001c0001t0001g0052 a0001c0001t0002g0022 a0001c0001t0002g0051 a0001c0001t0002g0119 a0001c0001t0005g0040 a0001c0001t0006g0041	7	306	0.0229	8	c.520 others(23): Show c.520+839_520+846dupACACACAC	EMX1	ENSG00000135638.14	transcript	ENST00000258106.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
EN1_chr2_118837171_118852648	118847726	G G	GGTTTTTT others(1): Show GGTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01257.hp2 others(1): Show HG00099.hp2 HG00280.hp1 HG01257.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0003 a0001c0001t0001g0027	4	442	0.0091	8	c.-56 others(17): Show c.-560_-559insAAAAAAAC	EN1	ENSG00000163064.7	transcript	ENST00000295206.7	protein_coding		79		chr2	TogoVar
EN1_chr2_118837171_118852648	118851472	T T	TTGTGTGT others(1): Show TTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01069.hp2 others(33): Show HG00099.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01192.hp1 HG01361.hp2 HG01433.hp2 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG02055.hp2 HG02148.hp2 HG02257.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02970.hp2 HG03516.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp2 NA18947.hp1 NA18949.hp1 NA18967.hp1 NA18974.hp1 NA18983.hp1 NA18992.hp2 NA19000.hp1 NA19006.hp1 NA19066.hp2 NA19078.hp2 NA19090.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0043 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0002g0029 a0001c0001t0005g0016 a0001c0002t0001g0004 a0001c0002t0006g0014 a0001c0003t0001g0018	36	442	0.0815	8	c.-43 others(19): Show c.-4306_-4305insCACACACA	EN1	ENSG00000163064.7	transcript	ENST00000295206.7	protein_coding		3825		chr2	TogoVar
ENAH_chr1_225481829_225658123	225520922	A A	AAGGGAGG others(1): Show AAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG03491.hp1 others(3): Show HG00621.hp2 HG00642.hp1 HG03491.hp1 HG03492.hp1 NA19062.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0027 others(2): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0027 a0001c0001t0040 a0001c0001t0096	a0001c0001t0003g0070 a0001c0001t0019g0063 a0001c0001t0027g0238 others(3): Show a0001c0001t0003g0070 a0001c0001t0019g0063 a0001c0001t0027g0238 a0001c0001t0040g0183 a0001c0001t0040g0187 a0001c0001t0096g0301	6	308	0.0195	8	c.435 others(25): Show c.435-1365_435-1358dupCCCTCCCT	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	4/13			chr1	TogoVar
ENAH_chr1_225481829_225658123	225566263	T T	TTTTGTTT others(1): Show TTTTGTTTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01192.hp2 others(6): Show HG01070.hp1 HG01071.hp1 HG01192.hp2 HG01516.hp1 HG01517.hp2 HG02735.hp1 HG03688.hp2 HG04199.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0034 a0001c0001t0004 a0001c0001t0034	a0001c0001t0004g0015 a0001c0001t0004g0245 a0001c0001t0004g0249 others(6): Show a0001c0001t0004g0015 a0001c0001t0004g0245 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0264 a0001c0001t0034g0247 a0001c0001t0034g0248	9	308	0.0292	8	c.171 others(23): Show c.171+978_171+985dupCAAACAAA	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	2/13			chr1	TogoVar
ENAH_chr1_225481829_225658123	225639705	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp1 HG01168.hp2 others(23): Show HG01074.hp2 HG01109.hp1 HG01168.hp2 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG02055.hp1 HG02080.hp1 HG02258.hp2 HG02486.hp2 HG02615.hp2 HG02965.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp2 NA18959.hp2 NA18970.hp1 NA19030.hp1 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0058 a0001c0001t0076 a0001c0001t0078 a0001c0003t0014 a0001c0003t0107 a0001c0003t0110 a0001c0011t0105 a0003c0004t0037	a0001c0001t0001g0269 a0001c0001t0003g0010 a0001c0001t0003g0011 others(23): Show a0001c0001t0001g0269 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0006g0120 a0001c0001t0007g0293 a0001c0001t0012g0223 a0001c0001t0012g0224 a0001c0001t0015g0002 a0001c0001t0015g0003 a0001c0001t0015g0004 a0001c0001t0015g0007 a0001c0001t0019g0167 a0001c0001t0043g0006 a0001c0001t0044g0005 a0001c0001t0048g0060 a0001c0001t0058g0086 a0001c0001t0076g0085 a0001c0001t0078g0241 a0001c0003t0014g0022 a0001c0003t0014g0025 a0001c0003t0107g0023 a0001c0003t0110g0058 a0001c0011t0105g0195 a0003c0004t0037g0192	26	308	0.0844	8	c.5+1 others(23): Show c.5+12973_5+12980dupGTGTGTGT	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13			chr1	TogoVar
ENAH_chr1_225481829_225658123	225654926	A A	AAAATAAA others(1): Show AAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01074.hp1 others(46): Show HG00099.hp2 HG00140.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01517.hp1 HG01993.hp1 HG02055.hp2 HG02074.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp2 HG02622.hp2 HG02647.hp1 HG02735.hp1 HG02886.hp1 HG02922.hp2 HG03453.hp1 HG03516.hp1 HG03669.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18969.hp1 NA18970.hp2 NA18975.hp1 NA18991.hp1 NA18994.hp1 NA19003.hp1 NA19007.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19081.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0022 a0001c0001t0028 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0042 a0001c0001t0054 a0001c0001t0059 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0089 a0001c0001t0099 a0001c0001t0116 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0017 a0002c0002t0028 a0002c0002t0056 a0003c0004t0004 a0003c0004t0011 a0006c0009t0004	a0001c0001t0001g0231 a0001c0001t0002g0017 a0001c0001t0002g0090 others(46): Show a0001c0001t0001g0231 a0001c0001t0002g0017 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0102 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0303 a0001c0001t0003g0257 a0001c0001t0003g0274 a0001c0001t0003g0284 a0001c0001t0003g0289 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0277 a0001c0001t0017g0196 a0001c0001t0017g0259 a0001c0001t0017g0262 a0001c0001t0022g0093 a0001c0001t0028g0067 a0001c0001t0028g0068 a0001c0001t0033g0254 a0001c0001t0034g0248 a0001c0001t0039g0206 a0001c0001t0042g0001 a0001c0001t0054g0199 a0001c0001t0059g0285 a0001c0001t0068g0159 a0001c0001t0069g0098 a0001c0001t0070g0101 a0001c0001t0089g0151 a0001c0001t0099g0088 a0001c0001t0116g0308 a0002c0002t0002g0191 a0002c0002t0002g0198 a0002c0002t0003g0273 a0002c0002t0004g0256 a0002c0002t0004g0287 a0002c0002t0004g0288 a0002c0002t0017g0291 a0002c0002t0028g0066 a0002c0002t0056g0242 a0003c0004t0004g0258 a0003c0004t0011g0197 a0006c0009t0004g0283	49	308	0.1591	8	c.-22 others(19): Show c.-2237_-2236insATTTATTT	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding		1804		chr1	TogoVar
ENDOD1_chr11_95084846_95137645	95103096	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18943.hp2 NA18991.hp1 others(2): Show HG00323.hp1 NA18943.hp2 NA18991.hp1 NA19077.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0015 a0003c0003t0003 a0001c0001t0015 a0003c0003t0003	a0001c0001t0015g0061 a0003c0003t0003g0067 a0003c0003t0003g0072 others(2): Show a0001c0001t0015g0061 a0003c0003t0003g0067 a0003c0003t0003g0072 a0003c0003t0003g0073 a0003c0003t0003g0076	5	368	0.0136	8	c.300 others(27): Show c.300+12872_300+12873insTGTGTGTG	ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENDOD1_chr11_95084846_95137645	95103100	G G	GGGGTGTG others(1): Show GGGGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01261.hp2 HG02280.hp2 others(4): Show HG01106.hp2 HG01261.hp2 HG02280.hp2 HG02300.hp2 HG02602.hp2 HG03834.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0003c0003t0003	a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0004g0301 others(4): Show a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0004g0301 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0196 a0003c0003t0003g0191	7	368	0.0190	8	c.300 others(27): Show c.300+12874_300+12875insGGTGTGTG	ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENDOD1_chr11_95084846_95137645	95122589	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00741.hp2 others(31): Show HG00280.hp2 HG00323.hp2 HG00741.hp2 HG01074.hp1 HG01261.hp1 HG02129.hp2 HG02148.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02698.hp2 HG02717.hp2 HG03209.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG04184.hp1 NA18942.hp1 NA18947.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18968.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19065.hp2 NA19074.hp2 NA19075.hp1 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0007t0009 a0002c0002t0002 a0003c0003t0003	a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0039 others(29): Show a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0106 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0260 a0001c0001t0001g0282 a0001c0001t0004g0217 a0001c0001t0004g0251 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0188 a0001c0001t0006g0206 a0001c0001t0006g0209 a0001c0001t0006g0300 a0001c0001t0009g0019 a0001c0001t0009g0094 a0001c0001t0010g0177 a0001c0007t0009g0227 a0001c0007t0009g0228 a0002c0002t0002g0107 a0002c0002t0002g0216 a0002c0002t0002g0224 a0002c0002t0002g0263 a0002c0002t0002g0278 a0002c0002t0002g0319 a0003c0003t0003g0231	34	368	0.0924	8	c.301 others(25): Show c.301-5760_301-5753dupCACACACA	ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar

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