Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

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)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
ENTREP2_chr15_29115252_29575979	29439284	T T	TACAAACA others(1): Show TACAAACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp2 HG02818.hp2 HG02922.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0007 a0001c0008 a0003c0007	a0001c0008t0007 a0003c0007t0002 a0001c0008t0007 a0003c0007t0002	a0001c0008t0007g0039 a0003c0007t0002g0094 a0001c0008t0007g0039 a0003c0007t0002g0094	2	125	0.0160	8	c.220 others(27): Show c.220-57454_220-57453insGTGTTTGT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29439284	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03486.hp1 HG00099.hp2 HG03486.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0016 a0001c0001 a0005c0016	a0001c0001t0001 a0005c0016t0006 a0001c0001t0001 a0005c0016t0006	a0001c0001t0001g0102 a0005c0016t0006g0032 a0001c0001t0001g0102 a0005c0016t0006g0032	2	125	0.0160	8	c.220 others(27): Show c.220-57461_220-57454dupGTGTGTGT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29472428	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01255.hp1 others(6): Show HG01081.hp1 HG01167.hp2 HG01255.hp1 HG01496.hp2 HG02257.hp2 HG02486.hp1 HG02922.hp2 NA18955.hp1 NA19009.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0019 others(3): Show a0001c0001 a0001c0002 a0001c0019 a0002c0003 a0003c0007 a0004c0020	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0016 a0001c0019t0001 a0002c0003t0035 a0003c0007t0002 a0004c0020t0033	a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0002g0099 others(6): Show a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0002g0099 a0001c0002t0001g0036 a0001c0002t0016g0005 a0001c0019t0001g0033 a0002c0003t0035g0104 a0003c0007t0002g0094 a0004c0020t0033g0071	9	125	0.0720	8	c.220 others(27): Show c.220-90605_220-90598dupGTGTGTGT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29489500	C C	CTTTGATT others(1): Show CTTTGATTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00558.hp1 others(72): Show HG00099.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp1 HG01891.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18962.hp1 NA18983.hp1 NA18990.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19065.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0008 others(27): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0011 a0001c0019 a0001c0024 a0002c0003 a0002c0004 a0002c0005 a0002c0009 a0002c0012 a0002c0015 a0002c0021 a0002c0031 a0003c0006 a0003c0007 a0003c0014 a0003c0030 a0003c0034 a0004c0017 a0004c0020 a0004c0032 a0005c0016 a0005c0018 a0005c0035 a0006c0033 a0006c0037 a0007c0028 a0008c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0004 a0001c0002t0016 a0001c0002t0043 a0001c0008t0007 a0001c0008t0036 a0001c0010t0001 a0001c0011t0010 a0001c0019t0001 a0001c0024t0010 a0002c0003t0005 a0002c0003t0013 a0002c0003t0021 a0002c0003t0027 a0002c0003t0030 a0002c0003t0032 a0002c0003t0034 a0002c0004t0003 a0002c0004t0037 a0002c0004t0048 a0002c0005t0005 a0002c0005t0011 a0002c0009t0003 a0002c0012t0009 a0002c0015t0012 a0002c0021t0003 a0002c0031t0040 a0003c0006t0001 a0003c0006t0002 a0003c0006t0039 a0003c0006t0046 a0003c0007t0002 a0003c0014t0002 a0003c0014t0051 a0003c0030t0047 a0003c0034t0002 a0004c0017t0008 a0004c0017t0014 a0004c0020t0008 a0004c0020t0033 a0004c0032t0014 a0005c0016t0006 a0005c0018t0006 a0005c0035t0019 a0006c0033t0049 a0006c0037t0018 a0007c0028t0017 a0008c0025t0002	a0001c0001t0001g0047 a0001c0001t0001g0068 a0001c0001t0001g0102 others(72): Show a0001c0001t0001g0047 a0001c0001t0001g0068 a0001c0001t0001g0102 a0001c0001t0002g0060 a0001c0001t0004g0024 a0001c0001t0004g0026 a0001c0002t0001g0041 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0075 a0001c0002t0001g0082 a0001c0002t0004g0002 a0001c0002t0016g0012 a0001c0002t0043g0113 a0001c0008t0007g0039 a0001c0008t0007g0064 a0001c0008t0007g0106 a0001c0008t0007g0115 a0001c0008t0036g0045 a0001c0010t0001g0088 a0001c0011t0010g0053 a0001c0019t0001g0033 a0001c0024t0010g0062 a0002c0003t0005g0063 a0002c0003t0013g0017 a0002c0003t0013g0019 a0002c0003t0021g0016 a0002c0003t0027g0003 a0002c0003t0030g0097 a0002c0003t0032g0109 a0002c0003t0034g0059 a0002c0004t0003g0048 a0002c0004t0003g0052 a0002c0004t0003g0101 a0002c0004t0037g0066 a0002c0004t0048g0122 a0002c0005t0005g0057 a0002c0005t0005g0095 a0002c0005t0005g0100 a0002c0005t0011g0020 a0002c0005t0011g0023 a0002c0009t0003g0044 a0002c0012t0009g0061 a0002c0012t0009g0091 a0002c0012t0009g0092 a0002c0015t0012g0008 a0002c0021t0003g0085 a0002c0021t0003g0086 a0002c0031t0040g0080 a0003c0006t0001g0108 a0003c0006t0002g0065 a0003c0006t0002g0081 a0003c0006t0002g0107 a0003c0006t0039g0105 a0003c0006t0046g0037 a0003c0007t0002g0087 a0003c0014t0002g0067 a0003c0014t0002g0103 a0003c0014t0051g0124 a0003c0030t0047g0120 a0003c0034t0002g0046 a0004c0017t0008g0014 a0004c0017t0014g0013 a0004c0020t0008g0009 a0004c0020t0033g0071 a0004c0032t0014g0021 a0005c0016t0006g0032 a0005c0016t0006g0079 a0005c0018t0006g0084 a0005c0018t0006g0110 a0005c0035t0019g0006 a0006c0033t0049g0123 a0006c0037t0018g0004 a0007c0028t0017g0089 a0008c0025t0002g0090	75	125	0.6000	8	c.219 others(27): Show c.219+81004_219+81005insAAATCAAA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29563842	T T	TATAAATA others(1): Show TATAAATAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00558.hp1 others(40): Show HG00099.hp1 HG00423.hp1 HG00558.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp1 HG01257.hp2 HG01496.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp2 HG02155.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 NA18906.hp1 NA18955.hp2 NA18962.hp2 NA18983.hp1 NA18983.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19065.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010	a0001c0001 a0001c0002 a0001c0008 others(21): Show a0001c0001 a0001c0002 a0001c0008 a0001c0011 a0001c0019 a0001c0039 a0002c0003 a0002c0004 a0002c0005 a0002c0009 a0002c0012 a0002c0015 a0002c0031 a0003c0006 a0003c0007 a0003c0014 a0004c0013 a0004c0020 a0005c0018 a0005c0038 a0006c0029 a0006c0037 a0008c0025 a0010c0036	a0001c0001t0001 a0001c0001t0045 a0001c0002t0001 others(27): Show a0001c0001t0001 a0001c0001t0045 a0001c0002t0001 a0001c0002t0002 a0001c0002t0043 a0001c0008t0007 a0001c0011t0010 a0001c0019t0001 a0001c0039t0038 a0002c0003t0030 a0002c0004t0003 a0002c0005t0011 a0002c0009t0003 a0002c0012t0009 a0002c0015t0005 a0002c0015t0044 a0002c0031t0040 a0003c0006t0002 a0003c0006t0039 a0003c0007t0002 a0003c0007t0042 a0003c0014t0002 a0004c0013t0001 a0004c0020t0033 a0005c0018t0006 a0005c0038t0006 a0006c0029t0029 a0006c0037t0018 a0008c0025t0002 a0010c0036t0041	a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0068 others(40): Show a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0068 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0045g0034 a0001c0002t0001g0041 a0001c0002t0001g0075 a0001c0002t0001g0082 a0001c0002t0002g0040 a0001c0002t0043g0113 a0001c0008t0007g0039 a0001c0008t0007g0115 a0001c0011t0010g0053 a0001c0011t0010g0116 a0001c0019t0001g0033 a0001c0039t0038g0049 a0002c0003t0030g0097 a0002c0004t0003g0048 a0002c0004t0003g0101 a0002c0005t0011g0023 a0002c0009t0003g0050 a0002c0012t0009g0061 a0002c0012t0009g0091 a0002c0012t0009g0092 a0002c0015t0005g0070 a0002c0015t0044g0083 a0002c0031t0040g0080 a0003c0006t0002g0081 a0003c0006t0039g0105 a0003c0007t0002g0074 a0003c0007t0002g0094 a0003c0007t0042g0038 a0003c0014t0002g0103 a0004c0013t0001g0114 a0004c0020t0033g0071 a0005c0018t0006g0110 a0005c0038t0006g0117 a0006c0029t0029g0093 a0006c0037t0018g0004 a0008c0025t0002g0090 a0010c0036t0041g0051	43	125	0.3440	8	c.219 others(25): Show c.219+6662_219+6663insTTATTTAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29566846	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00642.hp2 others(17): Show HG00099.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01261.hp2 HG02630.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03453.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0008 others(9): Show a0001c0001 a0001c0002 a0001c0008 a0001c0011 a0001c0019 a0002c0003 a0002c0004 a0002c0005 a0003c0006 a0003c0034 a0004c0013 a0005c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0008t0007 a0001c0011t0010 a0001c0011t0031 a0001c0019t0001 a0002c0003t0005 a0002c0003t0032 a0002c0003t0034 a0002c0004t0048 a0002c0005t0005 a0003c0006t0002 a0003c0006t0046 a0003c0034t0002 a0004c0013t0001 a0005c0016t0006	a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0102 others(17): Show a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0102 a0001c0001t0002g0060 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0008t0007g0064 a0001c0011t0010g0053 a0001c0011t0031g0035 a0001c0019t0001g0058 a0002c0003t0005g0063 a0002c0003t0032g0109 a0002c0003t0034g0059 a0002c0004t0048g0122 a0002c0005t0005g0057 a0003c0006t0002g0065 a0003c0006t0046g0037 a0003c0034t0002g0046 a0004c0013t0001g0118 a0005c0016t0006g0079	20	125	0.1600	8	c.219 others(25): Show c.219+3651_219+3658dupGTGTGTGT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENY2_chr8_109329347_109350954	109347520	A A	AACACACA others(1): Show AACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02080.hp1 HG02109.hp2 others(16): Show HG01167.hp1 HG02080.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02886.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0060 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0002g0003 a0001c0001t0006g0030 a0001c0001t0006g0058	19	428	0.0444	8	c.40 others(19): Show c.4039_*4040insACACACAC	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		1567		chr8	TogoVar
EOGT_chr3_68970225_69018684	68976641	C C	CGTGTGTG others(1): Show CGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG01167.hp1 others(30): Show HG00733.hp2 HG00735.hp2 HG01167.hp1 HG01169.hp1 HG01884.hp1 HG01952.hp1 HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18963.hp1 NA18988.hp1 NA19043.hp2 NA19068.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0016 a0003c0008	a0001c0001t0005 a0001c0001t0024 a0001c0001t0027 others(7): Show a0001c0001t0005 a0001c0001t0024 a0001c0001t0027 a0001c0002t0005 a0001c0002t0024 a0001c0002t0048 a0001c0007t0017 a0001c0016t0005 a0003c0008t0005 a0003c0008t0063	a0001c0001t0005g0070 a0001c0001t0005g0170 a0001c0001t0005g0176 others(28): Show a0001c0001t0005g0070 a0001c0001t0005g0170 a0001c0001t0005g0176 a0001c0001t0005g0182 a0001c0001t0005g0211 a0001c0001t0005g0221 a0001c0001t0005g0232 a0001c0001t0005g0242 a0001c0001t0005g0246 a0001c0001t0005g0255 a0001c0001t0024g0186 a0001c0001t0024g0266 a0001c0001t0027g0006 a0001c0002t0005g0271 a0001c0002t0005g0274 a0001c0002t0005g0275 a0001c0002t0005g0276 a0001c0002t0005g0277 a0001c0002t0005g0278 a0001c0002t0005g0311 a0001c0002t0005g0322 a0001c0002t0024g0338 a0001c0002t0048g0049 a0001c0007t0017g0052 a0001c0007t0017g0073 a0001c0007t0017g0075 a0001c0007t0017g0076 a0001c0007t0017g0099 a0001c0016t0005g0287 a0003c0008t0005g0033 a0003c0008t0063g0393	33	444	0.0743	8	c.96 others(17): Show c.969_*976dupACACACAC	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	18/18	976		chr3	TogoVar
EOGT_chr3_68970225_69018684	69007511	G G	GGGGGGGG others(1): Show GGGGGGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01069.hp2 others(21): Show HG00099.hp1 HG01069.hp1 HG01069.hp2 HG01952.hp2 HG02683.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp2 NA18747.hp2 NA18942.hp1 NA18948.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18968.hp2 NA18977.hp1 NA18986.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19085.hp2 NA19087.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0029 a0001c0002t0001 a0001c0002t0002 others(7): Show a0001c0001t0029 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0018 a0001c0002t0037 a0002c0006t0010	a0001c0001t0029g0044 a0001c0002t0001g0028 a0001c0002t0001g0304 others(19): Show a0001c0001t0029g0044 a0001c0002t0001g0028 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0326 a0001c0002t0001g0330 a0001c0002t0001g0363 a0001c0002t0001g0364 a0001c0002t0001g0375 a0001c0002t0001g0384 a0001c0002t0002g0280 a0001c0002t0003g0376 a0001c0002t0004g0029 a0001c0002t0004g0307 a0001c0002t0006g0306 a0001c0002t0008g0320 a0001c0002t0018g0365 a0001c0002t0018g0366 a0001c0002t0037g0031 a0002c0006t0010g0321	24	444	0.0541	8	c.420 others(23): Show c.420+201_420+202insGCCCCCCC	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	6/17			chr3	TogoVar
EOGT_chr3_68970225_69018684	69016256	G G	GGTTTGTG others(1): Show GGTTTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02615.hp2 others(3): Show HG02257.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 NA18994.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0042 a0001c0001t0064 a0001c0002t0001 others(2): Show a0001c0001t0042 a0001c0001t0064 a0001c0002t0001 a0001c0002t0023 a0001c0002t0052	a0001c0001t0042g0050 a0001c0001t0064g0270 a0001c0002t0001g0353 others(3): Show a0001c0001t0042g0050 a0001c0001t0064g0270 a0001c0002t0001g0353 a0001c0002t0023g0043 a0001c0002t0023g0046 a0001c0002t0052g0045	6	444	0.0135	8	c.-30 others(19): Show c.-3039_-3038insACACAAAC	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding		2573		chr3	TogoVar
EOGT_chr3_68970225_69018684	69016283	G G	GTGTGTGT others(1): Show GTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00544.hp2 others(6): Show HG00140.hp2 HG00423.hp2 HG00544.hp2 HG02280.hp2 HG02895.hp1 NA18978.hp1 NA18984.hp2 NA18988.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0029 a0001c0001t0032	a0001c0001t0001g0195 a0001c0001t0001g0235 a0001c0001t0001g0240 others(6): Show a0001c0001t0001g0195 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0021g0234 a0001c0001t0029g0044 a0001c0001t0032g0244	9	444	0.0203	8	c.-30 others(19): Show c.-3066_-3065insTACACACA	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding		2600		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711284	T T	TTATATAT others(1): Show TTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(8): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG01070.hp2 HG01123.hp2 HG01934.hp1 HG03669.hp2 HG03831.hp2 HG03942.hp2 NA18998.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0079 a0002c0002t0001g0007 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0008g0060	11	400	0.0275	8	c.57 others(19): Show c.5785_*5786insTATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4668		chr3	TogoVar
EP300_chr22_41087592_41185077	41167584	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02071.hp2 HG02818.hp2 others(1): Show HG01070.hp2 HG02071.hp2 HG02818.hp2 HG03491.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0008 a0001c0001t0024 a0002c0003t0001 others(1): Show a0001c0001t0008 a0001c0001t0024 a0002c0003t0001 a0002c0003t0018	a0001c0001t0008g0274 a0001c0001t0024g0277 a0002c0003t0001g0155 others(1): Show a0001c0001t0008g0274 a0001c0001t0024g0277 a0002c0003t0001g0155 a0002c0003t0018g0145	4	300	0.0133	8	c.387 others(25): Show c.3875-820_3875-813dupTATATATA	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167584	G G	GTGTATAT others(1): Show GTGTATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp1 HG01169.hp2 HG00280.hp2 HG01167.hp1 HG01169.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0004g0258 a0001c0001t0004g0264 a0002c0003t0001g0170 a0001c0001t0004g0258 a0001c0001t0004g0264 a0002c0003t0001g0170	3	300	0.0100	8	c.387 others(25): Show c.3875-864_3875-863insGTATATAT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP400_chr12_131944942_132085460	132073459	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01099.hp2 HG01123.hp2 others(30): Show HG00280.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01261.hp2 HG01433.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02896.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG04199.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0007 a0008 a0012 a0013 a0018 a0025 a0027 a0028	a0001c0002 a0001c0006 a0001c0046 others(16): Show a0001c0002 a0001c0006 a0001c0046 a0001c0056 a0001c0057 a0002c0001 a0003c0008 a0003c0013 a0005c0007 a0007c0012 a0007c0055 a0008c0017 a0008c0050 a0012c0054 a0013c0019 a0018c0038 a0025c0070 a0027c0031 a0028c0072	a0001c0002t0001 a0001c0006t0001 a0001c0046t0001 others(17): Show a0001c0002t0001 a0001c0006t0001 a0001c0046t0001 a0001c0056t0001 a0001c0057t0012 a0002c0001t0003 a0003c0008t0001 a0003c0008t0011 a0003c0013t0001 a0005c0007t0003 a0007c0012t0001 a0007c0055t0001 a0008c0017t0001 a0008c0050t0001 a0012c0054t0001 a0013c0019t0001 a0018c0038t0001 a0025c0070t0001 a0027c0031t0001 a0028c0072t0001	a0001c0002t0001g0140 a0001c0006t0001g0169 a0001c0006t0001g0170 others(30): Show a0001c0002t0001g0140 a0001c0006t0001g0169 a0001c0006t0001g0170 a0001c0006t0001g0173 a0001c0006t0001g0175 a0001c0006t0001g0178 a0001c0006t0001g0196 a0001c0046t0001g0159 a0001c0056t0001g0172 a0001c0057t0012g0171 a0002c0001t0003g0133 a0003c0008t0001g0158 a0003c0008t0001g0162 a0003c0008t0001g0166 a0003c0008t0001g0194 a0003c0008t0011g0167 a0003c0013t0001g0141 a0005c0007t0003g0134 a0005c0007t0003g0135 a0005c0007t0003g0136 a0007c0012t0001g0030 a0007c0012t0001g0031 a0007c0012t0001g0032 a0007c0055t0001g0033 a0008c0017t0001g0168 a0008c0017t0001g0176 a0008c0050t0001g0177 a0012c0054t0001g0026 a0013c0019t0001g0127 a0018c0038t0001g0096 a0025c0070t0001g0197 a0027c0031t0001g0072 a0028c0072t0001g0161	33	208	0.1587	8	c.902 others(27): Show c.9022-3050_9022-3043dupTTTTTTTT	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	51/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EPAS1_chr2_46292407_46391697	46302118	C C	CTCTGTGT others(1): Show CTCTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01257.hp1 HG01516.hp1 others(2): Show HG00735.hp1 HG01257.hp1 HG01516.hp1 HG02602.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0035 a0001c0001t0001 a0001c0001t0002 a0001c0001t0035	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0002g0126 a0001c0001t0035g0064	5	326	0.0153	8	c.26+ others(23): Show c.26+4182_26+4183insCTGTGTGT	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPAS1_chr2_46292407_46391697	46313438	G G	GTTATTTA others(1): Show GTTATTTAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01346.hp2 others(6): Show HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp2 HG01516.hp1 HG01978.hp1 HG02056.hp1 NA19009.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0079 a0001c0001t0002g0038 a0001c0001t0002g0039 others(6): Show a0001c0001t0001g0079 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0116 a0001c0001t0002g0126 a0001c0001t0002g0198 a0001c0001t0005g0187 a0001c0001t0007g0074 a0001c0001t0007g0130	9	326	0.0276	8	c.26+ others(25): Show c.26+15524_26+15531dupATTTATTT	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPAS1_chr2_46292407_46391697	46318181	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(76): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp2 HG02602.hp2 HG02735.hp1 HG02809.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18952.hp1 NA18956.hp1 NA18960.hp2 NA18979.hp2 NA18985.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19067.hp1 NA19081.hp2 NA19088.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0011 others(2): Show a0001c0001 a0001c0005 a0001c0011 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0025 a0001c0001t0027 a0001c0001t0035 a0001c0005t0001 a0001c0011t0001 a0002c0002t0001 a0003c0003t0006	a0001c0001t0001g0002 a0001c0001t0001g0061 a0001c0001t0001g0062 others(75): Show a0001c0001t0001g0002 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0255 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0108 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0198 a0001c0001t0007g0074 a0001c0001t0007g0130 a0001c0001t0012g0094 a0001c0001t0012g0109 a0001c0001t0016g0125 a0001c0001t0025g0096 a0001c0001t0027g0084 a0001c0001t0035g0064 a0001c0005t0001g0071 a0001c0011t0001g0105 a0002c0002t0001g0058 a0002c0002t0001g0101 a0002c0002t0001g0124 a0003c0003t0006g0069	79	326	0.2423	8	c.26+ others(25): Show c.26+20254_26+20261dupCACACACA	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPAS1_chr2_46292407_46391697	46332332	G G	GTGTATAT others(1): Show GTGTATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG02451.hp1 others(6): Show HG00738.hp1 HG01884.hp1 HG02451.hp1 HG02486.hp1 HG02886.hp2 HG03130.hp1 HG03139.hp2 HG06807.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0016 a0002c0002 a0001c0001 a0001c0016 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0016t0005 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0016t0005 a0002c0002t0005 a0002c0002t0019 a0002c0002t0020	a0001c0001t0001g0140 a0001c0001t0005g0028 a0001c0001t0005g0029 others(6): Show a0001c0001t0001g0140 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0016t0005g0030 a0002c0002t0005g0014 a0002c0002t0005g0034 a0002c0002t0019g0017 a0002c0002t0019g0027 a0002c0002t0020g0031	9	326	0.0276	8	c.27- others(25): Show c.27-14540_27-14539insGTATATAT	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPAS1_chr2_46292407_46391697	46332332	G G	GTGTGTGT others(1): Show GTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG01433.hp1 others(13): Show HG00621.hp1 HG00673.hp2 HG01433.hp1 HG02080.hp1 HG02129.hp2 HG03942.hp2 NA18747.hp1 NA18747.hp2 NA18960.hp2 NA18964.hp2 NA19060.hp1 NA19066.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA20805.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0011 a0002c0002 others(1): Show a0001c0001 a0001c0011 a0002c0002 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0022 a0001c0001t0036 a0001c0011t0001 a0002c0002t0001 a0002c0002t0003 a0006c0009t0004	a0001c0001t0001g0078 a0001c0001t0001g0106 a0001c0001t0001g0269 others(13): Show a0001c0001t0001g0078 a0001c0001t0001g0106 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0003g0263 a0001c0001t0003g0301 a0001c0001t0010g0191 a0001c0001t0022g0192 a0001c0001t0036g0186 a0001c0011t0001g0105 a0002c0002t0001g0298 a0002c0002t0003g0250 a0006c0009t0004g0223	16	326	0.0491	8	c.27- others(25): Show c.27-14540_27-14539insGTGTGTAT	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPAS1_chr2_46292407_46391697	46386917	T T	TTCTATCT others(1): Show TTCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02886.hp1 others(1): Show HG02280.hp2 HG02630.hp2 HG02886.hp1 HG02976.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0004 a0004c0007 a0002c0002 a0003c0004 a0004c0007	a0002c0002t0043 a0003c0004t0008 a0004c0007t0013 a0002c0002t0043 a0003c0004t0008 a0004c0007t0013	a0002c0002t0043g0037 a0003c0004t0008g0218 a0004c0007t0013g0055 others(1): Show a0002c0002t0043g0037 a0003c0004t0008g0218 a0004c0007t0013g0055 a0004c0007t0013g0172	4	326	0.0123	8	c.22 others(19): Show c.2257_*2258insTCTATCTA	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding		221		chr2	TogoVar
EPB41L1_chr20_36149740_36237799	36188581	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02145.hp1 HG02896.hp1 others(2): Show HG01070.hp2 HG02145.hp1 HG02896.hp1 HG03516.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 a0001c0001 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0003t0006 a0001c0012t0011	a0001c0001t0001g0141 a0001c0001t0002g0094 a0001c0001t0020g0199 others(2): Show a0001c0001t0001g0141 a0001c0001t0002g0094 a0001c0001t0020g0199 a0001c0003t0006g0201 a0001c0012t0011g0034	5	236	0.0212	8	c.102 others(25): Show c.1026+136_1026+143dupCACACACA	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L1_chr20_36149740_36237799	36232816	C C	CCTCTCTC others(1): Show CCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02897.hp1 others(5): Show HG02280.hp1 HG02451.hp1 HG02897.hp1 HG02965.hp2 HG03130.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0002t0011 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0011 a0001c0002t0012 a0001c0003t0006 a0001c0007t0008	a0001c0001t0002g0112 a0001c0001t0003g0205 a0001c0002t0011g0033 others(5): Show a0001c0001t0002g0112 a0001c0001t0003g0205 a0001c0002t0011g0033 a0001c0002t0012g0132 a0001c0003t0006g0200 a0001c0003t0006g0201 a0001c0003t0006g0208 a0001c0007t0008g0030	8	236	0.0339	8	c.34 others(19): Show c.3476_*3477insCTCTCTCT	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding		18		chr20	TogoVar
EPB41L2_chr6_130834347_131068245	130848182	G G	GTCTCTGT others(1): Show GTCTCTGTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01168.hp2 HG02040.hp2 HG00735.hp1 HG01168.hp2 HG02040.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0172 a0001c0001t0001g0277 a0005c0006t0001g0156 a0001c0001t0001g0172 a0001c0001t0001g0277 a0005c0006t0001g0156	3	356	0.0084	8	c.6- others(23): Show c.6-7585_*6-7584insGACAGAGA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	19/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130848197	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19056.hp1 NA19077.hp1 NA18946.hp2 NA19056.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0055	3	356	0.0084	8	c.6- others(23): Show c.6-7600_*6-7599insTGTGTGTG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	19/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130848199	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18962.hp1 NA19081.hp2 others(1): Show HG02723.hp2 NA18962.hp1 NA19081.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0193 a0001c0001t0003g0200 a0001c0001t0003g0202 others(1): Show a0001c0001t0003g0193 a0001c0001t0003g0200 a0001c0001t0003g0202 a0001c0001t0005g0133	4	356	0.0112	8	c.6- others(23): Show c.6-7609_*6-7602dupTGTGTGTG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	19/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130848199	T T	TCTCACAC others(1): Show TCTCACACA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18945.hp2 NA19056.hp2 NA18941.hp1 NA18945.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0301	3	356	0.0084	8	c.6- others(23): Show c.6-7602_*6-7601insTGTGTGAG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	19/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130848199	T T	TCTCTCAC others(1): Show TCTCTCACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00741.hp1 others(30): Show HG00423.hp1 HG00609.hp2 HG00741.hp1 HG01081.hp2 HG01261.hp2 HG01515.hp1 HG01952.hp1 HG01978.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02165.hp2 HG03017.hp1 HG03704.hp2 HG03710.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18968.hp1 NA18980.hp1 NA18993.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0004 a0007c0016 a0001c0001 a0003c0004 a0007c0016	a0001c0001t0001 a0003c0004t0001 a0007c0016t0001 a0001c0001t0001 a0003c0004t0001 a0007c0016t0001	a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0051 others(30): Show a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0161 a0001c0001t0001g0250 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0003c0004t0001g0262 a0007c0016t0001g0286	33	356	0.0927	8	c.6- others(23): Show c.6-7602_*6-7601insTGTGAGAG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	19/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130867937	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00621.hp1 others(34): Show HG00544.hp1 HG00609.hp2 HG00621.hp1 HG01081.hp2 HG01261.hp2 HG01515.hp1 HG01952.hp1 HG02074.hp2 HG02293.hp1 HG02602.hp2 HG02698.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 NA18942.hp2 NA18945.hp2 NA18953.hp2 NA18972.hp1 NA18973.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA19003.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19066.hp1 NA19077.hp2 NA19085.hp1 NA19086.hp2 NA20752.hp1 NA20905.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0009 a0003c0004 others(1): Show a0001c0001 a0001c0009 a0003c0004 a0007c0016	a0001c0001t0001 a0001c0009t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0001c0009t0001 a0003c0004t0001 a0007c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0084 a0001c0001t0001g0085 others(34): Show a0001c0001t0001g0003 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0304 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0009t0001g0131 a0003c0004t0001g0262 a0007c0016t0001g0286	37	356	0.1039	8	c.260 others(25): Show c.2608-364_2608-357dupGTGTGTGT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	15/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130891428	T T	TTTACTTA others(1): Show TTTACTTAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(87): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00741.hp2 HG01081.hp2 HG01261.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02056.hp1 HG02080.hp2 HG02132.hp1 HG02155.hp2 HG02257.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp1 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18951.hp2 NA18955.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19068.hp1 NA19068.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0017 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0007t0003 a0001c0017t0002 a0009c0012t0003	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 others(87): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0002g0335 a0001c0001t0003g0005 a0001c0001t0003g0108 a0001c0001t0003g0160 a0001c0001t0003g0174 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0009g0001 a0001c0002t0001g0069 a0001c0002t0001g0096 a0001c0002t0002g0007 a0001c0002t0002g0058 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0173 a0001c0002t0002g0195 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0007t0003g0184 a0001c0007t0003g0188 a0001c0017t0002g0059 a0009c0012t0003g0191	90	356	0.2528	8	c.148 others(25): Show c.1488-970_1488-963dupGTAAGTAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	10/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130929857	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG01257.hp1 others(11): Show HG00544.hp2 HG00639.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01496.hp2 HG01978.hp2 HG02293.hp1 HG02698.hp2 HG04228.hp1 NA18747.hp2 NA18965.hp1 NA19009.hp1 homoSapiens_chm13v2.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0014 a0001c0001 a0001c0002 a0010c0014	a0001c0001t0001 a0001c0001t0013 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0002 a0010c0014t0001	a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0151 others(11): Show a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0013g0129 a0001c0002t0002g0130 a0001c0002t0002g0138 a0010c0014t0001g0135	14	356	0.0393	8	c.706 others(25): Show c.706-3156_706-3149dupTGTGTGTG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130944162	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00597.hp2 others(32): Show HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG01099.hp2 HG01361.hp2 HG02071.hp2 HG02155.hp1 HG02698.hp2 HG03491.hp2 HG03834.hp1 NA18944.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18970.hp2 NA18980.hp2 NA18981.hp2 NA18989.hp2 NA18991.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19011.hp1 NA19056.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp2 NA19080.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(32): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0245 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0283 a0001c0001t0001g0306 a0001c0001t0002g0307	35	356	0.0983	8	c.705 others(27): Show c.705+10935_705+10942dupGTGTGTGT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01975.hp2 HG02683.hp2 others(8): Show HG01099.hp2 HG01975.hp2 HG02683.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 NA18945.hp2 NA18978.hp1 NA19056.hp2 NA19083.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0272 a0001c0001t0001g0295 a0001c0001t0001g0296 others(8): Show a0001c0001t0001g0272 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0294 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0307 a0001c0001t0004g0289 a0001c0001t0005g0012 a0001c0001t0005g0014 a0001c0001t0005g0015	11	356	0.0309	8	c.705 others(25): Show c.705+1057_705+1064dupAAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	131016477	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp2 HG02809.hp1 others(2): Show HG00140.hp1 HG01071.hp2 HG02809.hp1 NA19009.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0002t0002 a0001c0001t0001 a0001c0001t0012 a0001c0002t0002	a0001c0001t0001g0136 a0001c0001t0001g0150 a0001c0001t0001g0155 others(2): Show a0001c0001t0001g0136 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0012g0137 a0001c0002t0002g0242	5	356	0.0140	8	c.-15 others(27): Show c.-15+46670_-15+46677dupGTGTGTGT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	131023748	T T	TATATATA others(1): Show TATATATAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG02015.hp2 others(34): Show HG00423.hp2 HG00597.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02135.hp1 HG02155.hp1 HG02523.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18953.hp1 NA18954.hp1 NA18961.hp1 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18980.hp2 NA18983.hp2 NA18989.hp2 NA18991.hp1 NA19000.hp1 NA19007.hp2 NA19012.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19077.hp1 NA19080.hp1 NA19084.hp2 NA19087.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0002c0005 a0006c0019 others(1): Show a0001c0001 a0002c0005 a0006c0019 a0008c0011	a0001c0001t0001 a0002c0005t0004 a0006c0019t0001 others(1): Show a0001c0001t0001 a0002c0005t0004 a0006c0019t0001 a0008c0011t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(34): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0002c0005t0004g0349 a0006c0019t0001g0053 a0008c0011t0001g0040	37	356	0.1039	8	c.-15 others(27): Show c.-15+39399_-15+39406dupCTATATAT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	131066683	C C	CCACACAC others(1): Show CCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02055.hp2 HG02300.hp2 others(7): Show HG01261.hp2 HG02055.hp2 HG02300.hp2 HG02976.hp1 HG03486.hp2 NA18522.hp2 NA18968.hp2 NA18978.hp2 NA18983.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0084 a0001c0002t0001g0069 a0001c0002t0001g0096 others(7): Show a0001c0001t0001g0084 a0001c0002t0001g0069 a0001c0002t0001g0096 a0001c0002t0002g0079 a0001c0002t0002g0089 a0001c0002t0002g0237 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0326	10	356	0.0281	8	c.-35 others(19): Show c.-3544_-3543insTGTGTGTG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding		3439		chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5498594	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01109.hp1 HG01109.hp2 others(3): Show HG00558.hp1 HG01109.hp1 HG01109.hp2 HG01433.hp1 HG02698.hp1 NA18961.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0089 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0089 a0001c0001t0001g0203 a0005c0007t0001g0190 a0005c0007t0001g0191	6	222	0.0270	8	c.-11 others(25): Show c.-11-9408_-11-9401dupTTTTTTTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5501277	A A	AAATGAAT others(1): Show AAATGAATG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03831.hp1 NA18965.hp2 others(6): Show HG01169.hp2 HG03831.hp1 NA18965.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA19000.hp1 NA19010.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0003	a0001c0001t0001g0019 a0001c0001t0001g0159 a0001c0001t0001g0160 others(6): Show a0001c0001t0001g0019 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0002t0001g0161 a0001c0002t0002g0016 a0001c0002t0002g0156 a0001c0002t0002g0157 a0002c0003t0003g0155	9	222	0.0405	8	c.-11 others(27): Show c.-11-12091_-11-12084dupCATTCATT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5529928	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp2 HG01255.hp2 others(18): Show HG00408.hp2 HG01106.hp2 HG01255.hp2 HG01258.hp1 HG01433.hp1 HG01516.hp2 HG01884.hp1 HG02559.hp2 HG02698.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp2 HG03195.hp1 HG03471.hp1 HG03704.hp2 HG03831.hp2 NA18942.hp2 NA18986.hp2 NA19007.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0001c0002 a0001c0018 others(2): Show a0001c0001 a0001c0002 a0001c0018 a0003c0010 a0013c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0018t0001 a0003c0010t0007 a0013c0016t0001	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0030 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0153 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0206 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0033 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0018t0001g0044 a0003c0010t0007g0187 a0013c0016t0001g0152	21	222	0.0946	8	c.-12 others(27): Show c.-12+13977_-12+13984dupCACACACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112322699	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02965.hp1 HG02145.hp1 HG02965.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0024 a0001c0001 a0012c0024	a0001c0001t0001 a0012c0024t0033 a0001c0001t0001 a0012c0024t0033	a0001c0001t0001g0154 a0012c0024t0033g0074 a0001c0001t0001g0154 a0012c0024t0033g0074	2	228	0.0088	8	c.100 others(27): Show c.100-15217_100-15210dupGTGTGTGT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112339522	A A	ATCTATAT others(1): Show ATCTATATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02717.hp2 HG02723.hp2 others(7): Show HG01109.hp1 HG02717.hp2 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG03139.hp2 HG03453.hp1 HG03540.hp2 NA18906.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0012 a0001c0001 a0002c0003 a0006c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0002c0003t0012 a0002c0003t0044 a0006c0012t0015	a0001c0001t0002g0001 a0001c0001t0002g0041 a0001c0001t0003g0219 others(6): Show a0001c0001t0002g0001 a0001c0001t0002g0041 a0001c0001t0003g0219 a0001c0001t0006g0039 a0001c0001t0016g0044 a0002c0003t0012g0218 a0002c0003t0012g0221 a0002c0003t0044g0220 a0006c0012t0015g0045	10	228	0.0439	8	c.100 others(27): Show c.100-32033_100-32032insGATATAGA	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112346216	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00738.hp2 others(32): Show HG00438.hp1 HG00621.hp2 HG00738.hp2 HG01123.hp2 HG01261.hp2 HG01993.hp1 HG01993.hp2 HG02083.hp2 HG02145.hp2 HG02155.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02602.hp2 HG03239.hp1 HG03490.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18950.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18979.hp2 NA18983.hp2 NA18988.hp1 NA19003.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp2 NA19081.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0013 a0014	a0001c0001 a0001c0002 a0001c0026 others(4): Show a0001c0001 a0001c0002 a0001c0026 a0002c0018 a0003c0004 a0013c0020 a0014c0028	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(11): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0041 a0001c0002t0042 a0001c0026t0001 a0002c0018t0035 a0003c0004t0004 a0013c0020t0047 a0014c0028t0003	a0001c0001t0002g0007 a0001c0001t0005g0113 a0001c0001t0005g0123 others(32): Show a0001c0001t0002g0007 a0001c0001t0005g0113 a0001c0001t0005g0123 a0001c0001t0005g0139 a0001c0001t0005g0157 a0001c0001t0005g0180 a0001c0001t0008g0009 a0001c0001t0008g0024 a0001c0002t0001g0081 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0168 a0001c0002t0001g0172 a0001c0002t0001g0185 a0001c0002t0001g0212 a0001c0002t0002g0012 a0001c0002t0002g0023 a0001c0002t0003g0097 a0001c0002t0003g0146 a0001c0002t0003g0159 a0001c0002t0003g0175 a0001c0002t0003g0198 a0001c0002t0003g0213 a0001c0002t0005g0142 a0001c0002t0041g0082 a0001c0002t0042g0194 a0001c0026t0001g0203 a0002c0018t0035g0077 a0003c0004t0004g0087 a0013c0020t0047g0204 a0014c0028t0003g0163	35	228	0.1535	8	c.100 others(27): Show c.100-38734_100-38727dupAAAAAAAA	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112375323	G G	GCTCTCTC others(1): Show GCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp2 HG03516.hp2 HG02055.hp1 HG02922.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0018 a0002c0007t0002 a0002c0007t0030 a0001c0001t0018 a0002c0007t0002 a0002c0007t0030	a0001c0001t0018g0051 a0002c0007t0002g0052 a0002c0007t0030g0053 a0001c0001t0018g0051 a0002c0007t0002g0052 a0002c0007t0030g0053	3	228	0.0132	8	c.99+ others(25): Show c.99+43617_99+43618insAGAGAGAG	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109175468	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(23): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01074.hp1 HG01175.hp2 HG01358.hp2 HG01361.hp1 HG01517.hp1 HG01952.hp1 HG02735.hp1 HG02970.hp1 HG03239.hp2 HG03516.hp1 HG03942.hp2 NA18944.hp1 NA18956.hp2 NA18959.hp2 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0033 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0015 a0001c0002t0017 a0001c0002t0019 a0003c0006t0001 a0003c0007t0004 a0003c0007t0023	a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0073 others(23): Show a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0002g0171 a0001c0001t0013g0231 a0001c0001t0033g0232 a0001c0002t0003g0281 a0001c0002t0004g0049 a0001c0002t0004g0061 a0001c0002t0004g0099 a0001c0002t0005g0164 a0001c0002t0010g0100 a0001c0002t0010g0124 a0001c0002t0015g0267 a0001c0002t0017g0166 a0001c0002t0019g0244 a0001c0002t0019g0256 a0001c0002t0019g0294 a0003c0006t0001g0034 a0003c0007t0004g0023 a0003c0007t0023g0218 a0003c0007t0023g0219	26	318	0.0818	8	c.263 others(25): Show c.2634-853_2634-846dupGTGTGTGT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	25/25			chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109178902	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02027.hp2 HG02257.hp1 others(13): Show HG01175.hp1 HG02027.hp2 HG02257.hp1 HG02451.hp2 HG02647.hp1 HG03209.hp2 HG03486.hp2 HG06807.hp2 NA18941.hp1 NA18955.hp2 NA18967.hp1 NA18971.hp1 NA18990.hp2 NA18999.hp1 NA19003.hp1 NA19009.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0005 others(2): Show a0001c0001 a0001c0004 a0002c0005 a0003c0006 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0004t0052 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0052 a0002c0005t0051 a0002c0005t0064 a0003c0006t0001 a0003c0006t0018 a0003c0008t0011	a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0070 others(13): Show a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0175 a0001c0004t0052g0148 a0002c0005t0051g0160 a0002c0005t0064g0245 a0003c0006t0001g0018 a0003c0006t0018g0217 a0003c0008t0011g0015	16	318	0.0503	8	c.248 others(27): Show c.2488-2214_2488-2207dupTTTTTTTT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	24/25			chr9	TogoVar
EPB41L5_chr2_120008077_120184119	120092008	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02895.hp1 others(1): Show HG02109.hp2 HG02615.hp2 HG02895.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 a0001c0001t0004 a0001c0001t0016 a0001c0001t0017	a0001c0001t0004g0113 a0001c0001t0004g0118 a0001c0001t0016g0119 others(1): Show a0001c0001t0004g0113 a0001c0001t0004g0118 a0001c0001t0016g0119 a0001c0001t0017g0007	4	278	0.0144	8	c.115 others(25): Show c.1150+379_1150+386dupATTTATTT	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L5_chr2_120008077_120184119	120098156	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01109.hp1 others(15): Show HG00408.hp1 HG00639.hp2 HG01109.hp1 HG01891.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03139.hp2 HG03453.hp2 HG03579.hp1 NA19043.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 others(15): Show a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0053 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0109 a0001c0001t0002g0276 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0005g0006 a0002c0002t0001g0185 a0002c0002t0001g0217	18	278	0.0648	8	c.117 others(27): Show c.1179-2062_1179-2055dupGTGTGTGT	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L5_chr2_120008077_120184119	120128256	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01346.hp1 others(1): Show HG00738.hp1 HG00741.hp2 HG01346.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001	a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0154 others(1): Show a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0154 a0002c0002t0001g0238	4	278	0.0144	8	c.150 others(25): Show c.1501+433_1501+440dupCACACACA	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L5_chr2_120008077_120184119	120163980	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00738.hp1 others(30): Show HG00423.hp1 HG00544.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01346.hp1 HG01891.hp2 HG02135.hp1 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02738.hp1 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG03942.hp2 NA18947.hp2 NA19000.hp1 NA19030.hp1 NA19066.hp1 NA19082.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0002c0002t0001 a0002c0002t0010 a0004c0007t0001	a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0114 others(30): Show a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0154 a0001c0001t0006g0122 a0001c0001t0006g0128 a0001c0001t0008g0133 a0001c0001t0008g0134 a0002c0002t0001g0143 a0002c0002t0001g0149 a0002c0002t0001g0167 a0002c0002t0001g0174 a0002c0002t0001g0176 a0002c0002t0001g0180 a0002c0002t0001g0197 a0002c0002t0001g0211 a0002c0002t0001g0231 a0002c0002t0001g0243 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0257 a0002c0002t0001g0273 a0002c0002t0010g0157 a0002c0002t0010g0160 a0004c0007t0001g0270	33	278	0.1187	8	c.188 others(25): Show c.1888-843_1888-836dupTTTTTTTT	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	28934666	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03669.hp1 NA18969.hp1 others(5): Show HG02145.hp1 HG03669.hp1 NA18969.hp1 NA18973.hp2 NA19043.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0005c0011 a0008c0006	a0001c0001t0001 a0001c0001t0034 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0034 a0001c0002t0003 a0001c0002t0019 a0001c0008t0002 a0005c0011t0020 a0008c0006t0002	a0001c0001t0001g0312 a0001c0001t0034g0189 a0001c0002t0003g0209 others(5): Show a0001c0001t0001g0312 a0001c0001t0034g0189 a0001c0002t0003g0209 a0001c0002t0019g0190 a0001c0002t0019g0197 a0001c0008t0002g0107 a0005c0011t0020g0212 a0008c0006t0002g0259	8	312	0.0256	8	c.-8+ others(25): Show c.-8+19930_-8+19937dupGTGTGTGT	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results