Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
TMEM132B_chr12_125181386_125667369	125410763	A A	AGTGGAGT others(102): Show AGTGGAGTGGAGGAGTGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGAGTG GAGTGGAGTGGAGTGGAGGAGTGGAGTGAGTGGAGTGGAGTGGAGTGGAG TGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0115 a0001c0002t0004g0115	1	128	0.0078	109	c.960 others(126): Show c.960-4767_960-4766insTGGAGTGGAGGAGTGGAGTGGAGTGGAG TGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGTGGAGGAGTGGAGTGAG TGGAGTGGAGTGGAGTGGAGTGGAGTGAGTG	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128483309	T T	TGAGGGGA others(102): Show TGAGGGGAGTGGAGGAGGGGGGAGCGGAGGAGAGGGGAGGAGGGGGGAGG GGAGGAGGGGGGAGGGCAAGGGGAGAGGAGGAGGGGAGGAGGGGGAGGGG GAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0070 a0003c0010t0003g0070	1	170	0.0059	109	c.975 others(128): Show c.975-60640_975-60639insTGGAGGAGGGGGGAGCGGAGGAGAGG GGAGGAGGGGGGAGGGGAGGAGGGGGGAGGGCAAGGGGAGAGGAGGAGGG GAGGAGGGGGAGGGGGAGGGGAGGAGAGGGGAG	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128483309	T T	TGAGGGGA others(102): Show TGAGGGGAGTGGAGGAGGGGGGAGGGGAGGAGAGGGGAGGAGGGGGGAGG GGAGGAGGGGGAGGGCAAGGGGAGAGGAGGAGGGGAGGAGGGGGGAGGGG GAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0009 a0009	a0009c0003 a0009c0003	a0009c0003t0001 a0009c0003t0001	a0009c0003t0001g0128 a0009c0003t0001g0128	1	170	0.0059	109	c.975 others(128): Show c.975-60640_975-60639insTGGAGGAGGGGGGAGGGGAGGAGAGG GGAGGAGGGGGGAGGGGAGGAGGGGGAGGGCAAGGGGAGAGGAGGAGGGG AGGAGGGGGGAGGGGGAGGGGAGGAGAGGGGAG	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128483309	T T	TGAGGGGA others(102): Show TGAGGGGAGTGGAGGAGGGGGGAGGGGAGGAGAGGGGAGGAGGGGGGAGG GGAGGAGGGGGAGGGCAAGGGGGAGAGGAGGAGGGGAGGAGGGGGAGGGG GAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0007 a0006c0022t0007	a0006c0022t0007g0163 a0006c0022t0007g0163	1	170	0.0059	109	c.975 others(128): Show c.975-60640_975-60639insTGGAGGAGGGGGGAGGGGAGGAGAGG GGAGGAGGGGGGAGGGGAGGAGGGGGAGGGCAAGGGGGAGAGGAGGAGGG GAGGAGGGGGAGGGGGAGGGGAGGAGAGGGGAG	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128483309	T T	TGAGGGGA others(102): Show TGAGGGGAGTGGAGGAGGGGGGAGGGGAGGAGAGGGGAGGAGGGGGGAGG GGAGGAGGGGGGAGGGCAAGGGGAGAGGAGGAGGGGAGGAGGGGGAGGGG GAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01261.hp1 others(39): Show HG00140.hp2 HG01070.hp1 HG01261.hp1 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03516.hp1 HG03704.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0016 a0017 a0020 a0026 a0032	a0001c0001 a0002c0037 a0002c0040 others(31): Show a0001c0001 a0002c0037 a0002c0040 a0002c0042 a0002c0046 a0003c0009 a0003c0010 a0003c0016 a0003c0070 a0003c0071 a0004c0007 a0004c0008 a0004c0013 a0004c0061 a0005c0005 a0006c0020 a0006c0022 a0006c0025 a0007c0017 a0008c0028 a0008c0078 a0009c0003 a0010c0027 a0010c0069 a0011c0014 a0013c0062 a0013c0063 a0014c0067 a0016c0064 a0016c0065 a0017c0029 a0020c0036 a0026c0057 a0032c0091	a0001c0001t0001 a0002c0037t0002 a0002c0040t0005 others(33): Show a0001c0001t0001 a0002c0037t0002 a0002c0040t0005 a0002c0042t0009 a0002c0046t0002 a0003c0009t0004 a0003c0010t0003 a0003c0016t0002 a0003c0070t0002 a0003c0071t0002 a0004c0007t0017 a0004c0008t0003 a0004c0008t0010 a0004c0008t0013 a0004c0013t0002 a0004c0061t0005 a0005c0005t0002 a0006c0020t0002 a0006c0022t0007 a0006c0025t0005 a0007c0017t0003 a0008c0028t0001 a0008c0078t0001 a0009c0003t0001 a0010c0027t0001 a0010c0069t0001 a0011c0014t0001 a0013c0062t0002 a0013c0063t0002 a0014c0067t0005 a0016c0064t0002 a0016c0065t0014 a0017c0029t0007 a0020c0036t0005 a0026c0057t0012 a0032c0091t0001	a0001c0001t0001g0051 a0001c0001t0001g0098 a0001c0001t0001g0134 others(39): Show a0001c0001t0001g0051 a0001c0001t0001g0098 a0001c0001t0001g0134 a0002c0037t0002g0022 a0002c0040t0005g0097 a0002c0042t0009g0004 a0002c0046t0002g0095 a0003c0009t0004g0132 a0003c0010t0003g0067 a0003c0016t0002g0015 a0003c0070t0002g0083 a0003c0071t0002g0079 a0004c0007t0017g0042 a0004c0008t0003g0010 a0004c0008t0003g0074 a0004c0008t0010g0006 a0004c0008t0013g0091 a0004c0013t0002g0065 a0004c0061t0005g0046 a0005c0005t0002g0064 a0006c0020t0002g0143 a0006c0022t0007g0069 a0006c0025t0005g0012 a0006c0025t0005g0075 a0007c0017t0003g0018 a0008c0028t0001g0140 a0008c0078t0001g0094 a0009c0003t0001g0023 a0010c0027t0001g0148 a0010c0027t0001g0152 a0010c0069t0001g0021 a0011c0014t0001g0076 a0011c0014t0001g0127 a0013c0062t0002g0011 a0013c0063t0002g0082 a0014c0067t0005g0158 a0016c0064t0002g0149 a0016c0065t0014g0088 a0017c0029t0007g0138 a0020c0036t0005g0166 a0026c0057t0012g0089 a0032c0091t0001g0005	42	170	0.2471	109	c.975 others(128): Show c.975-60640_975-60639insTGGAGGAGGGGGGAGGGGAGGAGAGG GGAGGAGGGGGGAGGGGAGGAGGGGGGAGGGCAAGGGGAGAGGAGGAGGG GAGGAGGGGGAGGGGGAGGGGAGGAGAGGGGAG	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128483309	T T	TGAGGGGA others(102): Show TGAGGGGAGTGGAGGAGGGGGGAGGGGAGGAGAGGGGAGGAGGGGGGGAG GGGAGGAGGGGGAGGGCAAGGGGAGAGGAGGAGGGGAGGAGGGGGAGGGG GAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02895.hp1 HG03098.hp1 others(2): Show HG01261.hp2 HG02895.hp1 HG03098.hp1 HG03710.hp1 NA18522.hp1	a0003 a0008 a0010 others(1): Show a0003 a0008 a0010 a0029	a0003c0009 a0008c0002 a0010c0015 others(1): Show a0003c0009 a0008c0002 a0010c0015 a0029c0075	a0003c0009t0001 a0003c0009t0004 a0008c0002t0001 others(2): Show a0003c0009t0001 a0003c0009t0004 a0008c0002t0001 a0010c0015t0011 a0029c0075t0003	a0003c0009t0001g0073 a0003c0009t0004g0039 a0008c0002t0001g0026 others(2): Show a0003c0009t0001g0073 a0003c0009t0004g0039 a0008c0002t0001g0026 a0010c0015t0011g0007 a0029c0075t0003g0072	5	170	0.0294	109	c.975 others(128): Show c.975-60640_975-60639insTGGAGGAGGGGGGAGGGGAGGAGAGG GGAGGAGGGGGGGAGGGGAGGAGGGGGAGGGCAAGGGGAGAGGAGGAGGG GAGGAGGGGGAGGGGGAGGGGAGGAGAGGGGAG	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM65_chr8_124301189_124377701	124309834	T T	TGAGGTCA others(102): Show TGAGGTCAGGAGTCTGAGGCCAGCCTGGCCAACATGGTGAAACCCCGTTT CTACTAAAAATACAAAAAAATTAGGCTCGGTGGCACGTGCCTGTAATCCC AGCTACTCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00673.hp2 others(25): Show HG00280.hp1 HG00597.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG02132.hp1 HG02523.hp2 HG02622.hp1 HG02683.hp1 HG02723.hp1 HG03098.hp2 HG03139.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03834.hp1 NA18946.hp2 NA18949.hp1 NA18962.hp1 NA18972.hp1 NA18980.hp2 NA18988.hp1 NA18989.hp1 NA19085.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0021 others(5): Show a0001c0001t0008 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0048 a0001c0001t0059 a0001c0001t0060 a0001c0001t0065	a0001c0001t0008g0296 a0001c0001t0008g0297 a0001c0001t0008g0298 others(25): Show a0001c0001t0008g0296 a0001c0001t0008g0297 a0001c0001t0008g0298 a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 a0001c0001t0008g0302 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0008g0306 a0001c0001t0008g0308 a0001c0001t0008g0309 a0001c0001t0008g0310 a0001c0001t0008g0311 a0001c0001t0008g0312 a0001c0001t0019g0160 a0001c0001t0019g0161 a0001c0001t0019g0162 a0001c0001t0021g0251 a0001c0001t0021g0256 a0001c0001t0021g0257 a0001c0001t0023g0327 a0001c0001t0023g0329 a0001c0001t0023g0330 a0001c0001t0048g0163 a0001c0001t0059g0248 a0001c0001t0060g0303 a0001c0001t0065g0335	28	348	0.0805	109	c.40 others(120): Show c.4017_*4125dupCTGAGTAGCTGGGATTACAGGCACGTGCCACCGA GCCTAATTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTGGCC AGGCTGGCCTCAGACTCCTGACCTC	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding	7/7	4125		chr8	TogoVar
TMPPE_chr3_33085422_33102146	33095037	C C	CTGTAGGA others(102): Show CTGTAGGAGTCTCCAGGAGAGGGTGGCTCTTTGCAAGGAGAATGGACAAA AACCCTGGTGTCACCCTCGACTCTTCTCTCTCCCAGAAGTCATTATCTCC TTAGAGAGGT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	466	0.0022	109	c.-10 others(126): Show c.-108-735_-108-734insACCTCTCTAAGGAGATAATGACTTCTGG GAGAGAGAAGAGTCGAGGGTGACACCAGGGTTTTTGTCCATTCTCCTTGC AAAGAGCCACCCTCTCCTGGAGACTCCTACA	TMPPE	ENSG00000188167.9	transcript	ENST00000342462.5	protein_coding	1/1			chr3	TogoVar
TMPRSS9_chr19_2355265_2431261	2418444	C C	CCCTTCCC others(102): Show CCCTTCCCTCCCTACCTTTCCTTCCCTTCCCTCCCTCCCTTTCATTCCCT CCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCATTCCCTCCCTCCCTT TCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0039 a0001c0004t0002g0039	1	114	0.0088	109	c.215 others(126): Show c.2154+318_2154+319insACCTTTCCTTCCCTTCCCTCCCTCCCTT TCATTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCATTCCCT CCCTCCCTTTCCTTCCCTTCCTTCCCTCCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNK2_chr3_195858364_195913551	195880480	C C	CGGAGAGG others(102): Show CGGAGAGGACACAGCATCTATCCCTGTAACACCCCCCCCCCCCAGCAATG CCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCCCCCCCCCAGC AATGCCCCTT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0143 a0002c0004t0002g0143	1	372	0.0027	109	c.888 others(126): Show c.888-1306_888-1305insAAGGGGCATTGCTGGGGGGGGGGGTGTT ACAGGGATAGATGCTGTGTCCTCTCCAAGGGGCATTGCTGGGGGGGGGGG GTGTTACAGGGATAGATGCTGTGTCCTCTCC	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TNRC6C_chr17_77953703_78113822	78111931	A A	ATGACGGG others(102): Show ATGACGGGCTGGTCCCCACAGGCCTGGAGCACAGGCTGACGGGCTGGTCC CCACAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTG GAGCACAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00558.hp2 others(57): Show HG00323.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00673.hp1 HG01070.hp1 HG01261.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp2 NA18957.hp1 NA18968.hp1 NA18970.hp2 NA18994.hp2 NA18998.hp1 NA19007.hp2 NA19030.hp2 NA19055.hp1 NA19062.hp2 NA19064.hp2 NA19240.hp2 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0009 a0013 a0016 a0017	a0001c0002 a0001c0004 a0001c0006 others(8): Show a0001c0002 a0001c0004 a0001c0006 a0002c0003 a0003c0021 a0003c0030 a0005c0010 a0009c0015 a0013c0026 a0016c0023 a0017c0017	a0001c0002t0002 a0001c0002t0013 a0001c0002t0014 others(22): Show a0001c0002t0002 a0001c0002t0013 a0001c0002t0014 a0001c0002t0018 a0001c0002t0035 a0001c0002t0039 a0001c0002t0050 a0001c0002t0052 a0001c0002t0059 a0001c0004t0006 a0001c0004t0011 a0001c0004t0024 a0001c0004t0026 a0001c0006t0008 a0001c0006t0032 a0001c0006t0033 a0002c0003t0025 a0003c0021t0002 a0003c0030t0008 a0005c0010t0038 a0005c0010t0053 a0009c0015t0027 a0013c0026t0002 a0016c0023t0045 a0017c0017t0028	a0001c0002t0002g0005 a0001c0002t0002g0104 a0001c0002t0002g0107 others(57): Show a0001c0002t0002g0005 a0001c0002t0002g0104 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0211 a0001c0002t0013g0235 a0001c0002t0013g0236 a0001c0002t0013g0238 a0001c0002t0014g0054 a0001c0002t0014g0055 a0001c0002t0014g0071 a0001c0002t0018g0234 a0001c0002t0018g0237 a0001c0002t0035g0184 a0001c0002t0039g0057 a0001c0002t0050g0005 a0001c0002t0052g0121 a0001c0002t0059g0123 a0001c0004t0006g0242 a0001c0004t0006g0246 a0001c0004t0006g0247 a0001c0004t0006g0248 a0001c0004t0006g0249 a0001c0004t0011g0257 a0001c0004t0011g0261 a0001c0004t0011g0262 a0001c0004t0024g0243 a0001c0004t0026g0260 a0001c0006t0008g0251 a0001c0006t0008g0253 a0001c0006t0008g0256 a0001c0006t0032g0254 a0001c0006t0033g0252 a0002c0003t0025g0241 a0003c0021t0002g0113 a0003c0030t0008g0255 a0005c0010t0038g0035 a0005c0010t0053g0065 a0009c0015t0027g0264 a0013c0026t0002g0118 a0016c0023t0045g0192 a0017c0017t0028g0263	60	276	0.2174	109	c.70 others(120): Show c.7086_*7087insTGACGGGCTGGTCCCCACAGGCCTGGAGCACAGG CTGACGGGCTGGTCCCCACAGACCTGGAGCACTGGGGTCATGACGGGCTG GTCCCCGCAGGCCTGGAGCACAGGC	TNRC6C	ENSG00000078687.18	transcript	ENST00000696270.1	protein_coding		3110		chr17	TogoVar
TOP1MT_chr8_143304324_143339880	143321874	C C	CAGGCACG others(102): Show CAGGCACGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCA CACACGCATGCCACACACAGCCACGCCACACACACACGCCACACACACAC AGGCACGCCA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0069 a0001c0008t0001g0069	1	430	0.0023	109	c.961 others(124): Show c.961-489_961-488insTGGCGTGCCTGTGTGTGTGTGGCGTGTGTG TGTGGCGTGGCTGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGTGTGGCA TGCGTGTGTGGCGTGCGTGTGGCGTGCCT	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143321874	C C	CAGGCACG others(102): Show CAGGCACGCCACACGCACGCCACACACGCATGCCACACACACGCATGCCA CACACGCATGCCACACACAGCCACGCCACACACACACGCCACACACACAC AGGCACGCCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	430	0.0023	109	c.961 others(124): Show c.961-489_961-488insTGGCGTGCCTGTGTGTGTGTGGCGTGTGTG TGTGGCGTGGCTGTGTGTGGCATGCGTGTGTGGCATGCGTGTGTGTGGCA TGCGTGTGTGGCGTGCGTGTGGCGTGCCT	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143321943	C C	CGCCACAC others(102): Show CGCCACACGCACGCCACACGCACGCCACACACGCATGCCACACCGCACAC CACACGCACGCCACACACAGGCACGCCACACACACACAGGCACATGCACG CCACACGCAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0226 a0001c0027t0001g0226	1	430	0.0023	109	c.961 others(124): Show c.961-558_961-557insATGCGTGTGGCGTGCATGTGCCTGTGTGTG TGTGGCGTGCCTGTGTGTGGCGTGCGTGTGGTGTGCGGTGTGGCATGCGT GTGTGGCGTGCGTGTGGCGTGCGTGTGGC	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930542	G G	GGGGGTTA others(102): Show GGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGGCCTA GGGTTAAGGAGGCCGGGGGTAGGGAGGCTGGGGGTTAGGAAGGCTGGGGT TAGGAAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	466	0.0022	109	c.50 others(120): Show c.5048_*5049insGGCCTTCCTAACCCCAGCCTTCCTAACCCCCAGC CTCCCTACCCCCGGCCTCCTTAACCCTAGGCCTCCCTAACCCCCTGGCCT CCCTAACCCCAGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TP53I11_chr11_44927348_44955883	44942023	A A	ACACCACA others(102): Show ACACCACACACGACACACACCACACACACACACCGTACAAACCACCACAC ACACCACACACATATGCACACACACACCACACAAACCCACCACACAACCA CACACACATC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp1 HG02922.hp2 others(6): Show HG02486.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03139.hp2 HG03486.hp1 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0023 others(4): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0023 a0001c0001t0028 a0001c0001t0030 a0001c0001t0042 a0001c0001t0060	a0001c0001t0006g0034 a0001c0001t0007g0110 a0001c0001t0023g0067 others(5): Show a0001c0001t0006g0034 a0001c0001t0007g0110 a0001c0001t0023g0067 a0001c0001t0023g0068 a0001c0001t0028g0063 a0001c0001t0030g0065 a0001c0001t0042g0093 a0001c0001t0060g0240	9	422	0.0213	109	c.-31 others(126): Show c.-31-3658_-31-3657insGATGTGTGTGTGGTTGTGTGGTGGGTTT GTGTGGTGTGTGTGTGCATATGTGTGTGGTGTGTGTGGTGGTTTGTACGG TGTGTGTGTGTGGTGTGTGTCGTGTGTGGTG	TP53I11	ENSG00000175274.19	transcript	ENST00000525680.6	protein_coding	1/6			chr11	TogoVar
TPO_chr2_1408463_1548673	1422309	C C	CCTGGACC others(102): Show CCTGGACCGACCTCGTGCAGGCGCCGCGCTGGACTGACCTCGTGCAGGTG CCGCGCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTGC AGGCGCCGCG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0126 a0009c0012t0002g0126	1	130	0.0077	109	c.95- others(122): Show c.95-730_95-729insCGACCTCGTGCAGGCGCCGCGCTGGACTGACC TCGTGCAGGTGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGAC AGACCTCGTGCAGGCGCCGCGCTGGAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1422309	C C	CCTGGACC others(102): Show CCTGGACCGACCTCGTGCAGGCGCCGCGCTGGACTGACCTCGTGCAGGTG CCGCGCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGACAGACTTCGTGC AGGTGCCGCG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	130	0.0077	109	c.95- others(122): Show c.95-730_95-729insCGACCTCGTGCAGGCGCCGCGCTGGACTGACC TCGTGCAGGTGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGAC AGACTTCGTGCAGGTGCCGCGCTGGAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1537470	T T	TCAAATCC others(102): Show TCAAATCCCAATGTGTGCCACCTCCCCAAATCCCCCCACTGTAAGTAACC TCCTCAAATCTCCCTGCATTGTGCAACCTCCCAAAATCCCCCCACTGTGT GCAACCTCCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0007 a0006c0013t0007	a0006c0013t0007g0122 a0006c0013t0007g0122	1	130	0.0077	109	c.261 others(128): Show c.2619-3119_2619-3118insCCCAATGTGTGCCACCTCCCCAAATC CCCCCACTGTAAGTAACCTCCTCAAATCTCCCTGCATTGTGCAACCTCCC AAAATCCCCCCACTGTGTGCAACCTCCCCAAAT	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1537471	C C	CAAATCCC others(102): Show CAAATCCCAATGTGTGCCACCTCCCCAAATCCCCCCACTGTGTGCCACCT CCCCAAATCCCCCCACTGTGTGCAACCTTCCTAAATTCTTCCACTCTGTG CAACCTCCCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0127 a0002c0002t0003g0127	1	130	0.0077	109	c.261 others(128): Show c.2619-3119_2619-3118insCCCAATGTGTGCCACCTCCCCAAATC CCCCCACTGTGTGCCACCTCCCCAAATCCCCCCACTGTGTGCAACCTTCC TAAATTCTTCCACTCTGTGCAACCTCCCGAAAT	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRH_chr3_129969720_129982935	129971758	A A	AAGGGAGG others(102): Show AAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAG GGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGGAGGGAG GGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(56): Show HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02895.hp2 HG02896.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18943.hp1 NA18951.hp2 NA18953.hp1 NA18959.hp2 NA18967.hp2 NA18974.hp2 NA18975.hp1 NA18983.hp1 NA18984.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19067.hp1 NA19068.hp1 NA19077.hp1 NA19080.hp1 NA19083.hp2 NA19240.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0001 a0002c0002t0001 a0007c0009t0001 a0001c0001t0001 a0002c0002t0001 a0007c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0002c0002t0001g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0002c0002t0001g0001 a0007c0009t0001g0001	59	416	0.1418	109	c.-30 others(120): Show c.-3074_-3073insAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAG GGAGGGAGGGAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGG AAGGAAGGGAGGGAGGGAGGGAGGG	TRH	ENSG00000170893.4	transcript	ENST00000302649.4	protein_coding		2961		chr3	TogoVar
TRPM4_chr19_49152792_49216836	49167774	A A	ATCTCTCT others(102): Show ATCTCTCTGGGTCTCTGTCCCATCTCTCTGGGTCTCTGTCCCTCTCTCTC TGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCATCCCTCTGGGTC TCTGTCCCTC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	312	0.0032	109	c.268 others(124): Show c.268-123_268-122insATCTCTCTGGGTCTCTGTCCCTCTCTCTCT GGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCATCCCTCTGGGTCT CTGTCCCTCTCTCTCTGGGTCTCTGTCCC	TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr19	TogoVar
TUBGCP5_chr15_22994177_23044569	23042659	G G	GCTAGGGG others(102): Show GCTAGGGGATATCATAATCCCACCTGGCCAGAGATGCTGCGGGGCCATCA TAACCCACCTGGCCAGAGGTGCTGGGGGTGACTTCATAAATGTCACCTGG CCAGAGGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0098 a0001c0002t0002g0098	1	351	0.0029	109	c.-31 others(120): Show c.-3117_-3116insGCACCTCTGGCCAGGTGACATTTATGAAGTCACC CCCAGCACCTCTGGCCAGGTGGGTTATGATGGCCCCGCAGCATCTCTGGC CAGGTGGGATTATGATATCCCCTAG	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3091		chr15	TogoVar
TUBGCP6_chr22_50212694_50250023	50243632	A A	AAAAAAGG others(102): Show AAAAAAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0393 a0001c0005t0003g0394 a0001c0005t0003g0393 a0001c0005t0003g0394	2	436	0.0046	109	c.741 others(122): Show c.741+86_741+87insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCCTTTTT	TUBGCP6	ENSG00000128159.12	transcript	ENST00000248846.10	protein_coding	1/24			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870245	A A	ACACCCCA others(102): Show ACACCCCATACACACCACACACCACACACACCCCACCCCACACACACCAC ACCCCCACACACACCACACCCCACACACACCACACCCCATACACCCACAC CACCACACAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	338	0.0030	109	c.35 others(128): Show c.35+21515_*35+21516insCCCATACACACCACACACCACACACA CCCCACCCCACACACACCACACCCCCACACACACCACACCCCACACACAC CACACCCCATACACCCACACCACCACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXK_chr4_48061393_48139250	48104380	A A	AATATTAT others(102): Show AATATTATATATAATATATATAATATATAATATTATATATAATATATATA ATATATAATATTATATATAATATATATAATATATAATATTATATATAATA TATATAATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0290	1	362	0.0028	109	c.501 others(124): Show c.501+520_501+521insATATTATATATATTATATATAATATTATAT ATTATATATATTATATATAATATTATATATTATATATATTATATATAATA TTATATATTATATATATTATATATAATAT	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
TYW1B_chr7_72569513_72833200	72632346	T T	TATTATAT others(102): Show TATTATATATATTATATATATATATACACGTATATATATTATATATATTA TATATATACGTATATATATTATATATATACGTATATATATATAATATATA TATACATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG02647.hp1 HG02895.hp2 HG02897.hp1 HG03540.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0200 a0006c0009t0001g0201 a0006c0009t0001g0202 others(1): Show a0006c0009t0001g0200 a0006c0009t0001g0201 a0006c0009t0001g0202 a0006c0009t0001g0281	4	286	0.0140	109	c.150 others(128): Show c.1507-3350_1507-3349insTATATGTATATATATATTATATATAT ATACGTATATATATAATATATATACGTATATATATAATATATATAATATA TATACGTGTATATATATATATAATATATATAAT	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
UBL3_chr13_29759371_29855617	29833260	A A	ACTAAAAA others(102): Show ACTAAAAAGACGTCTGGATGGAGATCGGGTTAAAAAGTAGTGGAGATAAA AGAGGAAATTGATTTGAAACATATTAGAGAAAAATGATTGGCTTTATTGA TGGGATCTAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG03516.hp1 HG00735.hp1 HG01175.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0351 a0001c0001t0005g0352 a0001c0001t0005g0353 a0001c0001t0005g0351 a0001c0001t0005g0352 a0001c0001t0005g0353	3	392	0.0077	109	c.27+ others(126): Show c.27+16251_27+16252insATAGATCCCATCAATAAAGCCAATCATT TTTCTCTAATATGTTTCAAATCAATTTCCTCTTTTATCTCCACTACTTTT TAACCCGATCTCCATCCAGACGTCTTTTTAG	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(102): Show ATATATATATATACATATATATATATACATATATATATATATACATATAT ATATATATACATATATATATATATACATATATATATATATATATATATAT ATATTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	396	0.0025	109	c.84- others(124): Show c.84-1281_84-1280insATATATATATACATATATATATATACATAT ATATATATATACATATATATATATATACATATATATATATATACATATAT ATATATATATATATATATATATTTTTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
VCX2_chrX_8164944_8176267	8169109	C C	CCTCCCTC others(102): Show CCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACAC CTCCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CCACACACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0010 a0006c0013t0010	a0006c0013t0010g0027 a0006c0013t0010g0027	1	115	0.0087	109	c.92 others(118): Show c.922_*923insAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGAGGTGTGTGGGGAGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		834		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467005	A A	AGGGAGGG others(102): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0001 a0001c0001t0034g0001	1	271	0.0037	109	c.62 others(118): Show c.622_*623insGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		496		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467271	G G	GGGGAGGG others(102): Show GGGGAGGGAGGAAGAGGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0063 a0063	a0063c0094 a0063c0094	a0063c0094t0001 a0063c0094t0001	a0063c0094t0001g0007 a0063c0094t0001g0007	1	271	0.0037	109	c.88 others(118): Show c.888_*889insGGGAGGGAGGAAGAGGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		762		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467381	A A	AAGAGGTG others(102): Show AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAG GTGTGTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	271	0.0037	109	c.99 others(118): Show c.998_*999insAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		872		chrX	TogoVar
VCX_chrX_7838171_7849143	7844337	A A	AGGGAGGG others(102): Show AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0001 a0007c0010t0002g0001	1	341	0.0029	109	c.32 others(118): Show c.321_*322insGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		195		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237123	G G	GAGAGAGA others(102): Show GAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATATA TATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	328	0.0031	109	c.375 others(122): Show c.375-64_375-63insAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATAT ATATATATATATATATATATATATATA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VEGFB_chr11_64229584_64244264	64237123	G G	GAGAGAGA others(102): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATA TATATATATA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	328	0.0031	109	c.375 others(122): Show c.375-64_375-63insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATAT ATATATATATATATATATATATATATA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATG others(102): Show CATATATGATACATATATCATATATATCATATATGATACATATATCATAT ATATGATACATGTATCATATATGATACATATATATCATATATATGATACA TATGTATCAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02074.hp2 HG01496.hp1 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0100 a0002c0002t0002g0079 a0002c0002t0002g0100	2	340	0.0059	109	c.856 others(126): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATGATACATGTATCATATATGATACATATATATCATATATATGA TACATATGTATCATATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137198	A A	ATCATATA others(102): Show ATCATATATATCATATATGATACATATATCATATATATGATACATGTATC ATATATGATACATATATATCATATATATGATACATATGTATCATATATAT GATACATATG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	340	0.0029	109	c.856 others(126): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATGATACATGTATCATATATGATACATATATATCATATATATGA TACATATGTATCATATATATGATACATATGT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WWC2_chr4_183094257_183325777	183133024	T T	TTCACTTA others(102): Show TTCACTTACCCCTTCCCTTCTTTTCCCTTCCCTTTTTTTCCTTTTCTTTT CCCTTCCCTTTTTTTCCTTTTCTTTTCCCTTCCCTTTTTTTCCTTTTCTT TTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02257.hp2 HG02572.hp2 others(3): Show HG01975.hp2 HG02257.hp2 HG02572.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0007 a0008c0010 a0001c0001 a0001c0007 a0008c0010	a0001c0001t0002 a0001c0001t0037 a0001c0007t0012 others(1): Show a0001c0001t0002 a0001c0001t0037 a0001c0007t0012 a0008c0010t0017	a0001c0001t0002g0025 a0001c0001t0037g0242 a0001c0007t0012g0233 others(3): Show a0001c0001t0002g0025 a0001c0001t0037g0242 a0001c0007t0012g0233 a0008c0010t0017g0003 a0008c0010t0017g0004 a0008c0010t0017g0005	6	242	0.0248	109	c.131 others(128): Show c.131+33403_131+33404insCACTTACCCCTTCCCTTCTTTTCCCT TCCCTTTTTTTCCTTTTCTTTTCCCTTCCCTTTTTTTCCTTTTCTTTTCC CTTCCCTTTTTTTCCTTTTCTTTTCCCTTCCCT	WWC2	ENSG00000151718.16	transcript	ENST00000403733.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
WWOX_chr16_78094654_79217667	78723609	T T	TTTCTTTT others(102): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTTTCTTTTCTTTTCTTTTCCCACACTTCTTCTACCTTG ATTCCCAGCC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	142	0.0070	109	c.105 others(132): Show c.1056+290879_1056+290880insCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTCCCACACTTCTTCTA CCTTGATTCCCAGCCTTCTTTTCTTTTCTTTTCTTTT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZC3H12B_chrX_65029826_65512887	65373895	A A	ATATATAT others(102): Show ATATATATATATATATATATACTATATATATAGTATATATATATATAGTT TATATATATACTATATATATAGTATATATATATAGTTATATATATATACT ATATATATAG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	165	0.0061	109	c.-26 others(128): Show c.-269+4909_-269+4910insTATATATACTATATATATAGTATATA TATATATAGTTTATATATATACTATATATATAGTATATATATATAGTTAT ATATATATACTATATATATAGTATATATATATA	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H3_chr8_143432659_143546447	143439837	A A	AGGGGGGC others(102): Show AGGGGGGCCCTGGGGGCCTGAGCCAGGCCGTGCTGCCTACCTGAATCCTT GGTGAGGGGGGCCCTGGGGGCCCGAGCCAGGCCGTGCTGCCTACCTGAGT CCTTGCTGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0238 a0007c0009t0001g0238	1	352	0.0028	109	c.281 others(126): Show c.2815+203_2815+204insCTCAGCAAGGACTCAGGTAGGCAGCACG GCCTGGCTCGGGCCCCCAGGGCCCCCCTCACCAAGGATTCAGGTAGGCAG CACGGCCTGGCTCAGGCCCCCAGGGCCCCCC	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	11/11			chr8	TogoVar
ZNF143_chr11_9456012_9533524	9486414	T T	TATATTAT others(102): Show TATATTATATATAATATATATAATATATTATATATATAATATATATAATA TATATATAATATATTATATATATAATATATATAATATATATATTATATAT TATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG04115.hp2 HG02698.hp2 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0028 a0001c0003t0001g0026 a0001c0003t0001g0028	2	332	0.0060	109	c.645 others(126): Show c.645+6872_645+6873insTATATATAATATATATAATATATTATAT ATATAATATATATAATATATATATAATATATTATATATATAATATATATA ATATATATATTATATATTATATATATAATAT	ZNF143	ENSG00000166478.10	transcript	ENST00000396602.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
ZNF200_chr16_3217325_3240158	3235692	A A	ACCCCCAC others(102): Show ACCCCCACCCCCCTACTCTCCCCACCCCCCCACCCCCCTACTCTCCCCAC CCCCCTACTCTCCCCACCCCCCCACCCCCCTACTCTCCCCACCCCCCTAC TCTCCCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0023 a0004c0011t0023	a0004c0011t0023g0090 a0004c0011t0023g0090	1	390	0.0026	109	c.-78 others(118): Show c.-788_-787insGGTGGGGAGAGTAGGGGGGTGGGGAGAGTAGGGGGG TGGGGGGGTGGGGAGAGTAGGGGGGTGGGGAGAGTAGGGGGGTGGGGGGG TGGGGAGAGTAGGGGGGTGGGGG	ZNF200	ENSG00000010539.12	transcript	ENST00000414144.7	protein_coding		535		chr16	TogoVar
ZNF365_chr10_62369369_62407450	62371369	C C	CATATATA others(102): Show CATATATATCATATATATATGATATATATATCATATATATATCATATATA TATGATATATATATATATCATATATATATGATATATATATATATCATATA TATATGATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	350	0.0029	109	c.-31 others(120): Show c.-3103_-3102insATATATATCATATATATATGATATATATATCATA TATATATCATATATATATGATATATATATATATCATATATATATGATATA TATATATATCATATATATATGATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		2999		chr10	TogoVar
ZNF37A_chr10_38089337_38129625	38112737	T T	TGGTCTTG others(102): Show TGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTG GTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGT CTTGGCCTTG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0268 a0001c0001t0005g0268	1	386	0.0026	109	c.16- others(124): Show c.16-2018_16-2017insGGTCTTGGTCTTGGTCTTGGTCTTGGTCTT GGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGG TCTTGGTCTTGGTCTTGGTCTTGGCCTTG	ZNF37A	ENSG00000075407.19	transcript	ENST00000685332.1	protein_coding	5/7			chr10	TogoVar
ZNF37A_chr10_38089337_38129625	38112737	T T	TGGTCTTG others(102): Show TGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTG GTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGT CTTGGTCTTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG01496.hp2 others(14): Show HG00408.hp2 HG00642.hp1 HG01496.hp2 HG01975.hp1 HG02273.hp2 HG02523.hp2 HG04199.hp2 NA18940.hp1 NA18949.hp2 NA18951.hp1 NA18961.hp1 NA18964.hp1 NA18973.hp1 NA18982.hp1 NA19007.hp1 NA19068.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0016 a0002c0003t0003	a0001c0001t0002g0310 a0001c0001t0002g0319 a0001c0001t0002g0327 others(14): Show a0001c0001t0002g0310 a0001c0001t0002g0319 a0001c0001t0002g0327 a0001c0001t0002g0340 a0001c0001t0003g0224 a0001c0001t0003g0239 a0001c0001t0004g0252 a0001c0001t0004g0258 a0001c0001t0005g0271 a0001c0001t0005g0279 a0001c0001t0012g0274 a0001c0001t0016g0315 a0002c0003t0003g0191 a0002c0003t0003g0196 a0002c0003t0003g0202 a0002c0003t0003g0207 a0002c0003t0003g0208	17	386	0.0440	109	c.16- others(124): Show c.16-2018_16-2017insGGTCTTGGTCTTGGTCTTGGTCTTGGTCTT GGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGG TCTTGGTCTTGGTCTTGGTCTTGGTCTTG	ZNF37A	ENSG00000075407.19	transcript	ENST00000685332.1	protein_coding	5/7			chr10	TogoVar
ZNF638_chr2_71326782_71440061	71337645	T T	TTCCACCT others(102): Show TTCCACCTGTCTCGGCCTCCCAAAGTAGTAAGATTACGTGCATGAGCCAA TGCGCAGCCTATAAAATTATTCAGTCTACTATTTGTATTCTGGTTTTTGT CAATTGACCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01069.hp2 HG01074.hp1 others(21): Show HG00438.hp1 HG01069.hp2 HG01074.hp1 HG01109.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01981.hp1 HG02040.hp2 HG02630.hp2 HG02683.hp2 HG02976.hp2 HG03239.hp1 HG03492.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 NA18992.hp1 NA19010.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp2	a0002 a0014 a0019 a0002 a0014 a0019	a0002c0002 a0014c0021 a0019c0028 a0002c0002 a0014c0021 a0019c0028	a0002c0002t0001 a0014c0021t0001 a0019c0028t0001 a0002c0002t0001 a0014c0021t0001 a0019c0028t0001	a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 others(21): Show a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0014c0021t0001g0181 a0019c0028t0001g0195	24	348	0.0690	109	c.-20 others(128): Show c.-203+5771_-203+5879dupTCCACCTGTCTCGGCCTCCCAAAGTA GTAAGATTACGTGCATGAGCCAATGCGCAGCCTATAAAATTATTCAGTCT ACTATTTGTATTCTGGTTTTTGTCAATTGACCC	ZNF638	ENSG00000075292.19	transcript	ENST00000264447.9	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF681_chr19_23734195_23763891	23761901	A A	ATTCTTTC others(102): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTCTCTCTCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0224	1	394	0.0025	109	c.-31 others(120): Show c.-3153_-3152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3011		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761901	A A	ATTCTTTC others(102): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTCTCTCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	394	0.0025	109	c.-31 others(120): Show c.-3153_-3152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3011		chr19	TogoVar

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Search Results (Total: 10000 hits)