Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CROCC2_chr2_240901336_240998311	240979189	GCCCAGAC others(128): Show GCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00558.hp1 others(18): Show HG00140.hp2 HG00423.hp2 HG00558.hp1 HG00733.hp2 HG00741.hp2 HG01109.hp2 HG01261.hp1 HG01891.hp1 HG01952.hp2 HG02056.hp2 HG02071.hp2 HG02683.hp1 NA18945.hp2 NA18964.hp1 NA18970.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA19004.hp1 NA19011.hp1 NA19070.hp2	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0010	a0002c0002 a0002c0011 a0002c0070 others(3): Show a0002c0002 a0002c0011 a0002c0070 a0003c0003 a0006c0007 a0010c0009	a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 a0002c0070t0001 a0003c0003t0001 a0003c0003t0002 a0006c0007t0001 a0010c0009t0001 a0010c0009t0002	a0002c0002t0001g0060 a0002c0002t0001g0183 a0002c0002t0002g0264 others(18): Show a0002c0002t0001g0060 a0002c0002t0001g0183 a0002c0002t0002g0264 a0002c0011t0002g0305 a0002c0011t0002g0324 a0002c0011t0002g0332 a0002c0070t0001g0188 a0003c0003t0001g0049 a0003c0003t0001g0149 a0003c0003t0002g0256 a0006c0007t0001g0093 a0006c0007t0001g0094 a0006c0007t0001g0193 a0006c0007t0001g0194 a0006c0007t0001g0204 a0010c0009t0001g0051 a0010c0009t0001g0056 a0010c0009t0001g0090 a0010c0009t0001g0101 a0010c0009t0001g0225 a0010c0009t0002g0290	21	350	0.0600	-135	c.440 others(19): Show c.4402-3685_4402-3551del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980629	GCCCAGGC others(128): Show GCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCCGTCTCTGTGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0036 a0036	a0036c0085 a0036c0085	a0036c0085t0003 a0036c0085t0003	a0036c0085t0003g0032 a0036c0085t0003g0032	1	350	0.0029	-135	c.440 others(19): Show c.4402-2230_4402-2096del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240981079	TCCCAGGC others(128): Show TCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0054 a0054	a0054c0036 a0054c0036	a0054c0036t0001 a0054c0036t0001	a0054c0036t0001g0231 a0054c0036t0001g0231	1	350	0.0029	-135	c.440 others(19): Show c.4402-1760_4402-1626del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CSNK1D_chr17_82237667_82278700	82260595	TGGTGTAC others(128): Show TGGTGTACTGAGTGACGTGACTGATGGTGTACTGAGTGACGTGACTGATG GTGTACTGACTGATGTGACTGATGGTGTACTGACTGATGTGACTGATGGT GTACTGACTGATGTGACTGATGGTGTACTGACTGAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03225.hp1 HG02145.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0208 a0001c0001t0005g0209	2	320	0.0063	-135	c.187 others(17): Show c.187+4956_188-5019del		CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	2/8						chr17	TogoVar
CUL1_chr7_148693903_148806110	148741541	CGATTCTC others(128): Show CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACCGCAGGTGTGCATC ACCATGCCCAGCTAATTTTGGTGTTTGTAGTAGAGACAGGGTTTCATCAC GTTGGCCAGGCTGGTCTCGAGCTCCTGGCCTCAAGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(134): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18966.hp1 NA18971.hp2 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19065.hp1 NA19067.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(134): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0271 a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0004g0120 a0001c0002t0001g0062 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0116 a0001c0003t0001g0123 a0001c0003t0001g0264	137	338	0.4053	-135	c.140 others(19): Show c.140+11323_140+11457del		CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr7	TogoVar
CYP4F2_chr19_15873023_15903074	15873260	CGCACCTG others(128): Show CGCACCTGTAATCCCAGCACTTTGGGAAGCCGAGTCTGGCGGATCACTTG AGCCCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCATCTCT ACTAAAAATGCAAAAATTAGCCGGGCATGGTGGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(96): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02109.hp1 HG02135.hp1 HG02258.hp1 HG02293.hp1 HG02523.hp1 HG02647.hp2 HG02698.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18906.hp1 NA18944.hp2 NA18951.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18986.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18997.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19058.hp1 NA19060.hp2 NA19070.hp1 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0010	a0001c0001 a0002c0003 a0003c0004 others(3): Show a0001c0001 a0002c0003 a0003c0004 a0004c0008 a0006c0009 a0010c0016	a0001c0001t0001 a0002c0003t0001 a0002c0003t0009 others(4): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0009 a0003c0004t0001 a0004c0008t0001 a0006c0009t0001 a0010c0016t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0002c0003t0001g0003 others(39): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0018 a0002c0003t0001g0026 a0002c0003t0001g0048 a0002c0003t0001g0105 a0002c0003t0001g0122 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0131 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0145 a0002c0003t0001g0160 a0002c0003t0009g0130 a0003c0004t0001g0005 a0003c0004t0001g0009 a0003c0004t0001g0013 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0056 a0003c0004t0001g0057 a0003c0004t0001g0058 a0003c0004t0001g0059 a0003c0004t0001g0060 a0004c0008t0001g0019 a0004c0008t0001g0032 a0004c0008t0001g0061 a0006c0009t0001g0097 a0006c0009t0001g0099 a0006c0009t0001g0100 a0006c0009t0001g0116 a0010c0016t0001g0132	99	380	0.2605	-135	c.53 others(11): Show c.5376_*5510del		CYP4F2	ENSG00000186115.13	transcript	ENST00000221700.11	protein_coding					4762		chr19	TogoVar
DCLK2_chr4_150073445_150262438	150195176	AATATTAT others(128): Show AATATTATATATTATATAAACAATATTATATATTATATACAATATTATAT ATTATATAAACAATATTATATATTATATATTATATTATATATTATATATT ATATTATATATTATATTATATATTATATATTATATT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	116	0.0086	-135	c.859 others(17): Show c.859+1941_859+2075del		DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
DDX51_chr12_132131594_132149319	132148989	TGCCGCCG others(128): Show TGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	1	334	0.0030	-135	c.-48 others(11): Show c.-4828_-4694del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					4671		chr12	TogoVar
DEF8_chr16_89943755_89973060	89948935	TCGGCGGG others(128): Show TCGGCGGGGACGGGGCTGGGAGGGACGGGGCCGGCGGGGACGGGGCCGGC GGGGACGGGGCCGGCGGGGTCGGGGCTGGGAGGGACGGGGCCGGCGGGGA CGGGGTCGGCGGGGTCGGGGCTGGGAGGGACGGGGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0225 a0001c0002t0006g0225	1	392	0.0026	-135	c.-10 others(17): Show c.-108+137_-108+271del		DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
DEPDC5_chr22_31749019_31913033	31864942	TGGCCTCC others(128): Show TGGCCTCCCAAAGTGCTGGGATTACAGAAGTGAGCCATCGCGCTTGGCCT AATTTTGTAGTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCACGCTGG TCTCGAACTCCTGACCTCAGGTGATCTACCCGCCTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG02809.hp2 others(6): Show HG02559.hp2 HG02622.hp2 HG02809.hp2 HG03195.hp1 HG03486.hp1 HG03579.hp2 NA18522.hp1 NA19240.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0019 a0004c0005 a0001c0001 a0001c0019 a0004c0005	a0001c0001t0001 a0001c0001t0018 a0001c0019t0001 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0019t0001 a0004c0005t0001	a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0062 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0018g0141 a0001c0019t0001g0014 a0004c0005t0001g0063 a0004c0005t0001g0064 a0004c0005t0001g0065 a0004c0005t0001g0066	9	204	0.0441	-135	c.333 others(19): Show c.3330+3536_3330+3670del		DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	33/42					INFO_REALIGN_3_PRIME	chr22	TogoVar
DHRSX_chrX_2214506_2505976	2296661	CCCCAGGC others(128): Show CCCCAGGCAGATAGGAATAGGACCCAGGCAGATAGGAATAGGACCCAGGC AGATAGACCCCAGGCAGACAGGAATAGGACCCAGGCAGATAGGAATAGGA CCCAGGCAGATAGACCCCAGGCAGATAGGAATAGGA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0005 a0004c0014t0005	a0004c0014t0005g0007 a0004c0014t0005g0007	1	50	0.0200	-135	c.287 others(17): Show c.287-5193_287-5059del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6						chrX	TogoVar
DIP2C_chr10_269201_694668	608188	CACACAGC others(128): Show CACACAGCCCCAACACACACACAGCCCCCCCACACACACCCCCACAGCCC CCCCCACACACACCCCCACAGCCCCCCACACACAGCCCCTACACACACAC ACACACACAGCCCCTACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	88	0.0114	-135	c.85+ others(17): Show c.85+81171_85+81305del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIP2C_chr10_269201_694668	679338	TGCTCCCC others(128): Show TGCTCCCCACACCCATCCTCTTCGCGCCCATGCTCCCCGCATCCGTCCTC CCCGCGCCCATGCTCCCCACACCCAGGCTCCCCGCGCCCATCTGTACTCC CCACACCCAGGCTCCCTGCACCCGTCCTCCCCACAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	88	0.0114	-135	c.85+ others(17): Show c.85+10021_85+10155del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIPK2B_chrX_45143373_45205876	45155027	CCTGTAAT others(128): Show CCTGTAATCCCAGCACTTTGGGAGGCCGACGCAGGTGGATCACTTGAGGA CAGCAGTTTGAAGCCAGCCTGGCCAACATGGCATAACCTTGTCTCTACTA AAAGTGCAAAGATCGGCCAGGAGTGATGGCACATGT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03098.hp1 HG03710.hp1 others(3): Show HG02602.hp1 HG03098.hp1 HG03710.hp1 NA18964.hp1 NA18988.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0001c0001t0006 a0004c0005t0015 others(1): Show a0001c0001t0002 a0001c0001t0006 a0004c0005t0015 a0004c0005t0033	a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0006g0206 others(3): Show a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0006g0206 a0004c0005t0015g0167 a0004c0005t0015g0170 a0004c0005t0033g0239	6	307	0.0195	-135	c.673 others(15): Show c.673-964_673-830del		DIPK2B	ENSG00000147113.17	transcript	ENST00000398000.7	protein_coding	3/4						chrX	TogoVar
DLEC1_chr3_38034208_38129025	38113449	GGGAGGCT others(128): Show GGGAGGCTGAGGTGGGTGGATGTCTTGAGCTCAGGAGTTTGAGAGCAGCC TGGGCAACATGGCAAAACCCCTTCTCTACAAAAAATACAAAAATTAGCTG GGCGTGATGGCATATGTCTCTGGTCCCAGCTATTCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00423.hp2 others(65): Show HG00099.hp2 HG00323.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG01069.hp2 HG01106.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01934.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02074.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02602.hp2 HG02886.hp1 HG02965.hp2 HG03017.hp1 HG03130.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp2 NA19043.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19090.hp2 NA20752.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0008 a0025 a0028	a0001c0002 a0001c0014 a0001c0016 others(9): Show a0001c0002 a0001c0014 a0001c0016 a0001c0028 a0001c0030 a0001c0041 a0002c0005 a0005c0011 a0006c0010 a0008c0015 a0025c0043 a0028c0040	a0001c0002t0001 a0001c0014t0005 a0001c0016t0003 others(11): Show a0001c0002t0001 a0001c0014t0005 a0001c0016t0003 a0001c0016t0009 a0001c0028t0001 a0001c0030t0001 a0001c0041t0001 a0002c0005t0001 a0002c0005t0003 a0005c0011t0001 a0006c0010t0001 a0008c0015t0001 a0025c0043t0001 a0028c0040t0001	a0001c0002t0001g0150 a0001c0002t0001g0166 a0001c0002t0001g0168 others(63): Show a0001c0002t0001g0150 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0182 a0001c0002t0001g0193 a0001c0002t0001g0205 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0268 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0014t0005g0007 a0001c0016t0003g0281 a0001c0016t0009g0282 a0001c0028t0001g0218 a0001c0030t0001g0280 a0001c0041t0001g0278 a0002c0005t0001g0108 a0002c0005t0001g0130 a0002c0005t0003g0004 a0005c0011t0001g0237 a0005c0011t0001g0238 a0005c0011t0001g0239 a0006c0010t0001g0136 a0006c0010t0001g0247 a0006c0010t0001g0253 a0006c0010t0001g0254 a0008c0015t0001g0167 a0008c0015t0001g0169 a0025c0043t0001g0269 a0028c0040t0001g0235	68	298	0.2282	-135	c.366 others(17): Show c.3667-877_3667-743del		DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	25/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
DLGAP2_chr8_732628_1713476	848415	CTGTTCCA others(128): Show CTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCG GTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCG TGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	-135	c.19- others(17): Show c.19-59239_19-59105del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1240759	CCGTGTCT others(128): Show CCGTGTCTAGTTGTCTCACATGGTGCCGTTTCTAGTTCTTTCACATGGCG CCATGTCTAGTTACCTCTCACATGGTGCCATGTGTAGTTCTCTCTCACAC ATAGTGTCATGTCTAGTTCTCTCTCACACAGAGTAT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0016 a0004c0008t0016	a0004c0008t0016g0029 a0004c0008t0016g0029	1	40	0.0250	-135	c.74- others(17): Show c.74-18080_74-17946del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMRT1_chr9_836697_974090	871515	TTTTTTTT others(128): Show TTTTTTTTGGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATT ACAGACGCGAGCCACCGCGCCGGCTAACTTTTTGTA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0235 a0001c0001t0004g0235	1	306	0.0033	-135	c.539 others(19): Show c.539-22391_539-22257del		DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAAF5_chr7_721699_791475	722409	CTATTTTT others(128): Show CTATTTTTAGTAGAGATGGGGTTTCACCATGTTATCCAGGCTGGTTTCAA ACTCCTGACCACAGGTGATCTGCCTGCCTTGGCCTCACAAAGTGCTGGGA TGACAGGCGTGAGCCACCGCGCCTGGCTAATTTTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03710.hp2 HG03017.hp1 HG03710.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0137 a0003c0003t0003g0138 a0003c0003t0003g0137 a0003c0003t0003g0138	2	378	0.0053	-135	c.-43 others(11): Show c.-4311_-4177del		DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding					4289		chr7	TogoVar
DOCK1_chr10_126900428_127457516	127322295	TCCTCCCG others(128): Show TCCTCCCGCCTTAGCCTCCTAAGTAGCTGGGATTACAAGCATGTGCCACC ATGCCTGGATAATTTTTGTATTTTTAGTAGTGATGGGGTTTCCCCATGTT AGCCAGGCTGATCTCAAACTCCTGACCTCAAGTGAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02896.hp2 others(3): Show HG02280.hp1 HG02486.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG06807.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0010 a0003c0019 a0003c0021 others(2): Show a0002c0010 a0003c0019 a0003c0021 a0004c0020 a0005c0014	a0002c0010t0002 a0003c0019t0004 a0003c0021t0003 others(2): Show a0002c0010t0002 a0003c0019t0004 a0003c0021t0003 a0004c0020t0003 a0005c0014t0009	a0002c0010t0002g0001 a0003c0019t0004g0119 a0003c0021t0003g0003 others(3): Show a0002c0010t0002g0001 a0003c0019t0004g0119 a0003c0021t0003g0003 a0003c0021t0003g0004 a0004c0020t0003g0023 a0005c0014t0009g0078	6	136	0.0441	-135	c.304 others(21): Show c.3045-16708_3045-16574del		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	29/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK9_chr13_98788429_98983064	98971448	CTGTAGTC others(128): Show CTGTAGTCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAAATCAG GACATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAA AATACAAAAAACTAGCCGGGTGTTGTGGTGGGTGCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(135): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19056.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19076.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0018 a0001c0021 a0001c0022 a0001c0023 a0001c0030 a0002c0008 a0003c0024 a0004c0032 a0005c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0002t0013 a0001c0003t0002 a0001c0003t0003 a0001c0004t0002 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0007t0002 a0001c0010t0002 a0001c0013t0002 a0001c0018t0002 a0001c0021t0002 a0001c0022t0001 a0001c0023t0001 a0001c0030t0001 a0002c0008t0001 a0003c0024t0004 a0004c0032t0002 a0005c0027t0001	a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0037 others(135): Show a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0230 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0003g0327 a0001c0001t0006g0328 a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0009g0069 a0001c0001t0009g0071 a0001c0001t0011g0123 a0001c0002t0001g0011 a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0118 a0001c0002t0001g0139 a0001c0002t0013g0292 a0001c0003t0002g0060 a0001c0003t0002g0067 a0001c0003t0002g0080 a0001c0003t0002g0091 a0001c0003t0002g0094 a0001c0003t0002g0105 a0001c0003t0002g0108 a0001c0003t0002g0109 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0114 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0002g0119 a0001c0003t0002g0120 a0001c0003t0002g0122 a0001c0003t0002g0125 a0001c0003t0002g0129 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0135 a0001c0003t0003g0329 a0001c0004t0002g0035 a0001c0004t0002g0085 a0001c0004t0002g0093 a0001c0004t0002g0099 a0001c0004t0002g0100 a0001c0004t0002g0101 a0001c0004t0002g0102 a0001c0004t0002g0113 a0001c0004t0002g0126 a0001c0004t0002g0128 a0001c0004t0002g0130 a0001c0004t0002g0131 a0001c0005t0002g0025 a0001c0005t0002g0026 a0001c0005t0002g0027 a0001c0005t0002g0028 a0001c0005t0002g0029 a0001c0005t0002g0030 a0001c0005t0002g0031 a0001c0005t0002g0032 a0001c0005t0002g0033 a0001c0005t0002g0291 a0001c0006t0001g0098 a0001c0006t0001g0106 a0001c0006t0001g0107 a0001c0006t0001g0124 a0001c0006t0001g0127 a0001c0006t0001g0148 a0001c0006t0002g0103 a0001c0007t0002g0043 a0001c0007t0002g0058 a0001c0010t0002g0142 a0001c0010t0002g0143 a0001c0010t0002g0144 a0001c0010t0002g0145 a0001c0010t0002g0146 a0001c0010t0002g0147 a0001c0013t0002g0086 a0001c0013t0002g0090 a0001c0018t0002g0141 a0001c0021t0002g0150 a0001c0022t0001g0188 a0001c0023t0001g0034 a0001c0030t0001g0083 a0002c0008t0001g0088 a0002c0008t0001g0121 a0003c0024t0004g0134 a0004c0032t0002g0115 a0005c0027t0001g0053	138	348	0.3966	-135	c.126 others(17): Show c.126+6201_126+6335del		DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	1/52						chr13	TogoVar
DSPP_chr4_87603529_87621873	87615920	TAGCAGTG others(128): Show TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCA GCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGAC AGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG02055.hp1 HG03139.hp1 others(5): Show HG01891.hp1 HG02055.hp1 HG03139.hp1 NA18945.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp2	a0004 a0016 a0033 others(1): Show a0004 a0016 a0033 a0034	a0004c0005 a0016c0017 a0033c0059 others(1): Show a0004c0005 a0016c0017 a0033c0059 a0034c0060	a0004c0005t0001 a0016c0017t0001 a0033c0059t0001 others(1): Show a0004c0005t0001 a0016c0017t0001 a0033c0059t0001 a0034c0060t0001	a0004c0005t0001g0008 a0016c0017t0001g0023 a0016c0017t0001g0055 others(2): Show a0004c0005t0001g0008 a0016c0017t0001g0023 a0016c0017t0001g0055 a0033c0059t0001g0033 a0034c0060t0001g0033	8	450	0.0178	-135	c.326 others(9): Show c.3267_3401del	p.Ser others(15): Show p.Ser1090_Asp1134del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3387/4331	3267/3906	1089/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615929	CAGCAGCA others(128): Show CAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCA GCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAAT AGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0070 a0007c0070	a0007c0070t0001 a0007c0070t0001	a0007c0070t0001g0037 a0007c0070t0001g0037	1	450	0.0022	-135	c.327 others(9): Show c.3273_3407del	p.Asn others(15): Show p.Asn1092_Ser1136del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3393/4331	3273/3906	1091/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
ECT2L_chr6_138791087_138909070	138878576	AGCTGGGA others(128): Show AGCTGGGATTACAGGCATGTGCTACCACACCCAGCTAATTTTTGTATTTT TAGTAGAGACAGAGTTTTGCCATGTTGGTCAGGCTGGTCTCGAACTCCTG AGCTCAGGTGATCCACCCGCCTCAGCCTCCCAAGGT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0243 a0003c0004t0004g0243	1	326	0.0031	-135	c.166 others(19): Show c.1665+2037_1665+2171del		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	14/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11034401	TGCCGGGC others(128): Show TGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGTGGGTGGATCACTTGAGGTCTGGAGTTGAACACCAGCCTGGCCAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAATTA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(145): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01516.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG03017.hp1 HG03098.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0008 a0004c0006 a0001c0001 a0003c0008 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0023 a0003c0008t0001 a0004c0006t0024	a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0031 others(136): Show a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0309 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0007g0009 a0001c0001t0007g0052 a0001c0001t0007g0061 a0001c0001t0007g0067 a0001c0001t0007g0069 a0001c0001t0007g0070 a0001c0001t0007g0079 a0001c0001t0007g0081 a0001c0001t0007g0082 a0001c0001t0007g0083 a0001c0001t0011g0074 a0001c0001t0011g0094 a0001c0001t0011g0096 a0001c0001t0011g0099 a0001c0001t0011g0109 a0001c0001t0011g0110 a0001c0001t0011g0112 a0001c0001t0013g0068 a0001c0001t0023g0336 a0003c0008t0001g0086 a0004c0006t0024g0310	148	380	0.3895	-135	c.3+9 others(13): Show c.3+9692_3+9826del		ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7						chr6	TogoVar
EML1_chr14_99788413_99947060	99927846	ATGGTGGT others(128): Show ATGGTGGTGGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGAGGTGGTGGTGGTGGTGATGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0062 a0002c0001t0001g0062	1	288	0.0035	-135	c.190 others(19): Show c.1909+6978_1909+7112del		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99927972	ATGGTGGT others(128): Show ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19063.hp1 HG02040.hp2 NA19063.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0098 a0002c0001t0003g0119 a0002c0001t0003g0098 a0002c0001t0003g0119	2	288	0.0069	-135	c.190 others(19): Show c.1909+7111_1909+7245del		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML5_chr14_88607431_88797953	88796218	ATATTATA others(128): Show ATATTATATGTTATATATATTATATATATTATATATATATTATATGTTAT ATATATTATATATATATTATATGTTATATATATTATATATATATTATATG TTATATATATTATATATATATTATATGTTATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02293.hp2 HG01255.hp1 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0209 a0002c0002t0001g0245 a0002c0002t0001g0209 a0002c0002t0001g0245	2	332	0.0060	-135	c.-38 others(11): Show c.-3850_-3716del		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					3266		chr14	TogoVar
EML5_chr14_88607431_88797953	88796272	ATTATATA others(128): Show ATTATATATATATTATATGTTATATATATTATATATATATTATATGTTAT ATATATTATATATATATTATATGTTATATATTTTATATATATATTATATG TTATATATATTATATATATATTATATGTTATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(70): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01257.hp2 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02735.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG06807.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18982.hp1 NA18986.hp2 NA18987.hp2 NA18994.hp1 NA19000.hp1 NA19006.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19081.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA20300.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0011 a0001c0001 a0002c0002 a0008c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0029 a0002c0002t0003 a0008c0011t0008	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0086 others(68): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0167 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0006g0202 a0001c0001t0007g0134 a0001c0001t0008g0099 a0001c0001t0008g0100 a0001c0001t0008g0102 a0001c0001t0008g0103 a0001c0001t0008g0104 a0001c0001t0029g0157 a0002c0002t0003g0093 a0008c0011t0008g0101	73	332	0.2199	-135	c.-39 others(11): Show c.-3904_-3770del		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					3320		chr14	TogoVar
ERFL_chr19_41902704_41933449	41914602	GTCTCTCC others(128): Show GTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTGTCTCTCCCTCCCTTTC CACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCC CTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	330	0.0030	-135	c.-13 others(17): Show c.-13-1805_-13-1671del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
F7_chr13_113100791_113125685	113107245	GGGTGTCC others(128): Show GGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCAGGAGTG TGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGC GTGGGTGTCCCGGGAGTGTGGGTGTCCCGGAGGCGA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0200 a0001c0001t0023g0200	1	400	0.0025	-135	c.64+ others(15): Show c.64+1343_64+1477del		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108936	CCCGGGGG others(128): Show CCCGGGGGCGTGGGTGTCCCGGGAGCGTGGGTGTCCCAGGGGTGTGGGTG TCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGAT GTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGT	C C	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	400	0.0025	-135	c.65- others(15): Show c.65-1751_65-1617del		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
FAM9B_chrX_9019232_9039127	9021958	ATTACATT others(128): Show ATTACATTATGTATAATATATAATATATATTACATTATGTATAATATATA ATATATATTACATTATGTATAATATATAATATATATTACATTATGTATAA TATATAATATATATTACATTATGTATAATATATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	258	0.0039	-135	c.33 others(11): Show c.3316_*3450del		FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding					2273		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022608	GATATAAT others(128): Show GATATAATATATATTATATTATGTATAAGATATAATATATATTATATTAT GTATAAGATATAATATATATTATATTATGTATAAGATATAATATATATTA TGTATAAGATATAATATATATTATGTATAAGATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02451.hp1 HG01884.hp1 HG02109.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0046 a0001c0001t0001g0003 a0001c0001t0001g0046	3	258	0.0116	-135	c.26 others(11): Show c.2666_*2800del		FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding					1623		chrX	TogoVar
FBLN7_chr2_112133385_112193218	112139427	TGTCCCTC others(128): Show TGTCCCTCACGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTCTCCAGG CTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTC CAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	346	0.0029	-135	c.75+ others(13): Show c.75+705_75+839del		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112139450	TCAGTGTC others(128): Show TCAGTGTCCCTCCCGCCTCTCTCCAGGCTAGTGTCCCTCCCGCCTCTCTC CAGGCCAGCGTCCCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTC TCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCACGC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02895.hp2 HG02602.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0311 a0001c0001t0003g0026 a0001c0001t0001g0311 a0001c0001t0003g0026	2	346	0.0058	-135	c.75+ others(14): Show c.75+882_75+1016del		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FBRSL1_chr12_132485151_132590188	132562984	ACCTGGCC others(128): Show ACCTGGCCCCCACAGCCTGCACCCCACACCTGGCCCCCACAGCCTGCACC CCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTG CACCCCACGCCTGGCCCCCACAGCCTGCACCCCACG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA19000.hp1 NA19057.hp1 others(1): Show HG01975.hp2 NA19000.hp1 NA19057.hp1 NA19091.hp2	a0003 a0005 a0003 a0005	a0003c0001 a0005c0031 a0003c0001 a0005c0031	a0003c0001t0001 a0005c0031t0001 a0003c0001t0001 a0005c0031t0001	a0003c0001t0001g0211 a0003c0001t0001g0216 a0003c0001t0001g0232 others(1): Show a0003c0001t0001g0211 a0003c0001t0001g0216 a0003c0001t0001g0232 a0005c0031t0001g0258	4	348	0.0115	-135	c.646 others(17): Show c.646-4470_646-4336del		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132563011	ACCTGGCC others(128): Show ACCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTGCACC CCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTG CACCCCACGCCTGGCCCCCACAGCCTGCACCCCACG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01109.hp2 others(22): Show HG00140.hp2 HG01074.hp2 HG01109.hp2 HG01175.hp2 HG01361.hp2 HG01934.hp2 HG02258.hp1 HG02451.hp1 HG02622.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02976.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp1 NA18522.hp1 NA19043.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(3): Show a0000 a0001 a0002 a0006 a0008 a0010	a0000c0020 a0000c0043 a0000c0058 others(9): Show a0000c0020 a0000c0043 a0000c0058 a0000c0062 a0001c0005 a0001c0006 a0001c0012 a0002c0004 a0006c0008 a0008c0027 a0010c0034 a0010c0064	a0000c0020t0010 a0000c0043t0011 a0000c0058t0009 others(13): Show a0000c0020t0010 a0000c0043t0011 a0000c0058t0009 a0000c0062t0055 a0001c0005t0005 a0001c0005t0011 a0001c0006t0009 a0001c0012t0009 a0002c0004t0002 a0006c0008t0005 a0006c0008t0007 a0006c0008t0025 a0008c0027t0011 a0008c0027t0026 a0010c0034t0005 a0010c0064t0009	a0000c0020t0010g0126 a0000c0043t0011g0177 a0000c0058t0009g0110 others(22): Show a0000c0020t0010g0126 a0000c0043t0011g0177 a0000c0058t0009g0110 a0000c0062t0055g0142 a0001c0005t0005g0103 a0001c0005t0005g0115 a0001c0005t0011g0144 a0001c0006t0009g0108 a0001c0006t0009g0111 a0001c0006t0009g0112 a0001c0006t0009g0113 a0001c0012t0009g0088 a0001c0012t0009g0089 a0002c0004t0002g0114 a0006c0008t0005g0252 a0006c0008t0007g0151 a0006c0008t0007g0236 a0006c0008t0007g0254 a0006c0008t0007g0255 a0006c0008t0007g0256 a0006c0008t0025g0251 a0008c0027t0011g0183 a0008c0027t0026g0175 a0010c0034t0005g0116 a0010c0064t0009g0109	25	348	0.0718	-135	c.646 others(17): Show c.646-4341_646-4207del		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132564628	TGGGACTA others(128): Show TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCTCCTCGGCCTCCCGAGTAGCTG	T T	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0226 a0003c0001t0001g0226	1	348	0.0029	-135	c.646 others(17): Show c.646-2850_646-2716del		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FGF1_chr5_142587178_142691090	142596264	GTTTGAGG others(128): Show GTTTGAGGCCAGTCTGGGCAACATAGCAAGACCCATTCTCTACAATTTTT TTTTTAATTAGCTAGGTGCCATGGTGTGTGCCTGTAATCACAACACTTTG GGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG03453.hp1 others(1): Show HG02622.hp2 HG02809.hp1 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0007 a0001c0001t0012g0071 a0001c0001t0012g0282 others(1): Show a0001c0001t0012g0007 a0001c0001t0012g0071 a0001c0001t0012g0282 a0001c0001t0012g0311	4	340	0.0118	-135	c.274 others(15): Show c.274-915_274-781del		FGF1	ENSG00000113578.18	transcript	ENST00000337706.7	protein_coding	3/3						chr5	TogoVar
FGR_chr1_27607064_27640185	27608851	TGTGTGTG others(128): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTTCGATACTGTACCTG GGGTGTGTGTGTGTGTGTGTGTGTGTGTCTTCAATACTGTACCTGGGGTA TGTGTGTGTGTGTGTGTCTTCGATACTGTACCTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01516.hp1 HG01261.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0162 a0001c0001t0001g0111 a0001c0001t0001g0162	2	278	0.0072	-135	c.39 others(11): Show c.3928_*4062del		FGR	ENSG00000000938.13	transcript	ENST00000374005.8	protein_coding					3212		chr1	TogoVar
FHL2_chr2_105355826_105404051	105397938	TAATATAT others(128): Show TAATATATTATTATAAAACACTCATTAGTAGAGTCAGCACCAAAAATGTG AGATGTATTGGGAGTTGTGTTTTGAAGACAGTTCTCCTGATTCTAAACCC AAATTGTGATTTATTACCTTCCAAAATATGTGGAAG	T T	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0329 a0001c0001t0009g0329	1	448	0.0022	-135	c.-76 others(15): Show c.-76+769_-76+903del		FHL2	ENSG00000115641.19	transcript	ENST00000530340.6	protein_coding	1/6						chr2	TogoVar
FLT3_chr13_27998274_28105576	28082959	GCCTCCCA others(128): Show GCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAAT TTTTGTATTTTTTGTAGAGATGAAGTTTCACCATGTTGCCCAGTCTGGTG TTGGTCTCTTGAGCTCAGGCAATCCTTACACCTTGT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0166 a0008c0014t0001g0167 a0008c0014t0001g0166 a0008c0014t0001g0167	2	292	0.0069	-135	c.44- others(17): Show c.44-12482_44-12348del		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	1/23						chr13	TogoVar
FLT4_chr5_180596506_180654600	180639241	GGATGGAT others(128): Show GGATGGATGGATGGATGAATGGATGGATGGATGCATGGGTGGGTGGAGGA GTGGATGGGTGGGTGAGTAGAAGGATGGATGGGTGGATGGATGGACAGAC AGATGAATGGATGGATGGACAGGTAGATGAGTGGAT	G G	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	388	0.0026	-135	c.59- others(15): Show c.59-7598_59-7464del		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29						chr5	TogoVar
FNIP1_chr5_131636714_131802017	131785011	TATATATG others(128): Show TATATATGATATATATGACATATATATGATATATATGACTATATATATCA TATATATGATATATATGACATATATATATGATATATATGACTATATATAT ATCATATATATGATATATATGACTATATATATAGTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01069.hp1 others(8): Show HG00639.hp2 HG00741.hp1 HG01069.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG02109.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0185 a0001c0001t0001g0186 others(8): Show a0001c0001t0001g0055 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0290 a0001c0001t0001g0294	11	328	0.0335	-135	c.92+ others(17): Show c.92+11684_92+11818del		FNIP1	ENSG00000217128.13	transcript	ENST00000510461.6	protein_coding	1/17						chr5	TogoVar
FOXK1_chr7_4677295_4776442	4721725	GGATTACA others(128): Show GGATTACAGGCGTGAGACACCACGCCCAGCTAATTCTTGCATTTTTAGTA TAGACAGAGTTTCACCGTATTGACCAGGCTGGTCTTGAACTCCTGACCTC ATGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	294	0.0034	-135	c.561 others(19): Show c.561-19097_561-18963del		FOXK1	ENSG00000164916.11	transcript	ENST00000328914.5	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
FOXN3_chr14_89151177_89422233	89360997	CCTCCACC others(128): Show CCTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACC ACCTCCAGCACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCAC CACCACCACCACCACCTCCACCACTACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0086 a0001c0001t0028g0086	1	230	0.0044	-135	c.544 others(19): Show c.544-10324_544-10190del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361477	TCCAGCAC others(128): Show TCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCACCACCAC CTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCA CCTCCACCACTACCACCTCCAGCACTACCTCCACCA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0006 a0001c0001t0032g0006	1	230	0.0044	-135	c.544 others(19): Show c.544-10804_544-10670del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362408	CCACCTCC others(128): Show CCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAGCTCC ACCACCTCCTCCTCCACCACCACCACCACCACCACCACCATCTCCACCAC CACCACCACCATCTCTACGACCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0058 a0001c0001t0029g0058	1	230	0.0044	-135	c.544 others(19): Show c.544-11735_544-11601del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362451	CAGCTCCA others(128): Show CAGCTCCACCACCTCCTCCTCCACCACCACCACCACCACCACCACCATCT CCACCACCACCACCACCATCTCTACGACCACCACCACCACCATCTCCACC ACCACCTCCACCACCACCACCACCACCATCTCTACG	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	230	0.0044	-135	c.544 others(19): Show c.544-11778_544-11644del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar

Search by Variant

Search

Search Results