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
RRP12_chr10_97351701_97406340	97398054	TTTTTTTT others(292): Show TTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01257.hp1 HG01069.hp1 HG01257.hp1	a0003 a0014 a0003 a0014	a0003c0002 a0014c0021 a0003c0002 a0014c0021	a0003c0002t0001 a0014c0021t0001 a0003c0002t0001 a0014c0021t0001	a0003c0002t0001g0277 a0014c0021t0001g0315 a0003c0002t0001g0277 a0014c0021t0001g0315	2	400	0.0050	-299	c.369 others(17): Show c.369+1952_370-1754del	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
SBK2_chr19_55523611_55542133	55530459	TGTGAGGC others(292): Show TGTGAGGCCTGCGGGTTTAGTGTGGCCTAGGGTGACCCCGTGAGGCCTAG TGTGACCTGTGAGGCCTGTGGGTTTAGTGGGGCCTAGTGTGACCTGTGAG GCCTGTGGGTTTAGTGTGGCTTAGTGTGACCCGTGAGGCCTGTGGGTTTA GTGTGGCCTAGTGTGACCCGTGAGGCCTGTGGGTTTAGTGTGGCCTAGGG TGACCCCGTGAGGCCTAGTGTGACCTGTGAGGCCTGTGGGTTTAGTGGGG CCTAGTGTGACCTGTGAGGCCTGTGGGTTTAGTGTGGCTTAGTGTGACCC	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19066.hp1 NA19083.hp1 others(1): Show NA18943.hp1 NA19066.hp1 NA19083.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0152 a0001c0001t0004g0017 a0001c0001t0004g0152	4	434	0.0092	-299	c.456 others(15): Show c.456+385_457-137del	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	3/3			chr19	TogoVar
SGSM2_chr17_2332501_2386054	2356427	GTTGGGGG others(292): Show GTTGGGGGCAGGGGCCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG ATTGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(41): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp2 HG01515.hp2 HG01516.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02080.hp1 HG02129.hp2 HG02486.hp1 HG02523.hp1 HG03927.hp1 HG04115.hp2 HG04228.hp2 NA18612.hp2 NA18947.hp1 NA18949.hp2 NA18953.hp1 NA18960.hp2 NA18966.hp2 NA18968.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18990.hp1 NA18995.hp2 NA18999.hp2 NA19003.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19081.hp2 NA19086.hp2 NA19089.hp2	a0001 a0002 a0019 others(1): Show a0001 a0002 a0019 a0028	a0001c0001 a0001c0003 a0001c0039 others(3): Show a0001c0001 a0001c0003 a0001c0039 a0002c0002 a0019c0038 a0028c0014	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0003t0001 a0001c0003t0002 a0001c0039t0001 a0002c0002t0001 a0002c0002t0002 a0019c0038t0008 a0028c0014t0001	a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0029 others(40): Show a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0058 a0001c0001t0001g0121 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0256 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0377 a0001c0001t0007g0173 a0001c0001t0007g0184 a0001c0001t0008g0175 a0001c0001t0012g0320 a0001c0003t0001g0118 a0001c0003t0002g0252 a0001c0039t0001g0234 a0002c0002t0001g0224 a0002c0002t0002g0103 a0019c0038t0008g0216 a0028c0014t0001g0145	44	422	0.1043	-299	c.134 others(17): Show c.134-5203_134-4905del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHD_chr19_4274266_4295722	4293175	ATGGTCTT others(292): Show ATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTT TTTGAGACAGTCTTACTCTGTCACCTGGGCTGGAGTGTAGCAGCGGTGCG ATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTCAAGTGATTCTCCTGC CTCAGTCTCCCTAGTAGCTGGGATTACAAGCCCCCGCTACTACGTCTGGC TAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACCACGTTGGCCAGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03139.hp1 HG02622.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0002 a0002c0002t0002 a0002c0003t0002	a0002c0002t0002g0022 a0002c0003t0002g0003 a0002c0002t0002g0022 a0002c0003t0002g0003	2	462	0.0043	-299	c.25 others(11): Show c.2543_*2841del	SHD	ENSG00000105251.11	transcript	ENST00000543264.7	protein_coding		2454		chr19	TogoVar
SHD_chr19_4274266_4295722	4293262	TTTTTTTT others(292): Show TTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCACCTGGGCTGGAGTG TAGCAGCGGTGCGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTCAA GTGATTCTCCTGCCTCAGTCTCCCTAGTAGCTGGGATTACAAGCCCCCGC TACTACGTCTGGCTAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACC ACGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCGTGATTCGCCCGCCGT GGCCTCCCAAAATGCTGGGATTACATGCATGAGCCACTGCACCCGGCCAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02056.hp2 HG00673.hp1 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0246 a0002c0002t0004g0270 a0002c0002t0001g0246 a0002c0002t0004g0270	2	462	0.0043	-299	c.26 others(11): Show c.2630_*2928del	SHD	ENSG00000105251.11	transcript	ENST00000543264.7	protein_coding		2541		chr19	TogoVar
SKI_chr1_2223319_2315213	2280711	CGGCGGCG others(292): Show CGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGA GAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0061 a0001c0001t0007g0061	1	330	0.0030	-299	c.970 others(19): Show c.970-22256_970-21958del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46183529	CTGCGGGG others(292): Show CTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACC AGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCCTTGTGGGGGAG ACCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAG GAGACCAGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCTTGCGG GGGAGACCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGG GGGAGGAGACCAGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCT	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG01258.hp1 HG02559.hp2 HG02896.hp2 others(4): Show HG01258.hp1 HG02559.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 NA19030.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0006 a0004c0005 a0005c0006	a0004c0005t0039 a0005c0006t0010 a0004c0005t0039 a0005c0006t0010	a0004c0005t0039g0176 a0005c0006t0010g0019 a0005c0006t0010g0172 others(3): Show a0004c0005t0039g0176 a0005c0006t0010g0019 a0005c0006t0010g0172 a0005c0006t0010g0173 a0005c0006t0010g0174 a0005c0006t0010g0175	7	251	0.0279	-299	c.-95 others(12): Show c.-958-54_-714del	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5	714		chr21	TogoVar
TMEM132C_chr12_128262170_128712911	128447697	TTCAAGTG others(292): Show TTCAAGTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCAGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG01070.hp1 others(51): Show HG00558.hp1 HG00639.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02145.hp2 HG02148.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18959.hp2 NA19030.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0020 a0026 a0032	a0001c0001 a0002c0004 a0002c0006 others(36): Show a0001c0001 a0002c0004 a0002c0006 a0002c0038 a0002c0040 a0002c0052 a0003c0009 a0003c0010 a0003c0016 a0003c0086 a0004c0007 a0004c0008 a0004c0013 a0004c0061 a0005c0005 a0005c0032 a0005c0051 a0006c0021 a0006c0024 a0006c0025 a0007c0017 a0007c0081 a0007c0087 a0008c0002 a0008c0028 a0008c0077 a0008c0078 a0009c0003 a0009c0047 a0010c0015 a0010c0027 a0011c0014 a0012c0055 a0013c0062 a0013c0063 a0015c0088 a0020c0036 a0026c0057 a0032c0091	a0001c0001t0001 a0002c0004t0003 a0002c0006t0005 others(38): Show a0001c0001t0001 a0002c0004t0003 a0002c0006t0005 a0002c0038t0002 a0002c0040t0005 a0002c0052t0002 a0003c0009t0004 a0003c0010t0003 a0003c0016t0002 a0003c0016t0008 a0003c0086t0003 a0004c0007t0002 a0004c0007t0017 a0004c0008t0003 a0004c0013t0002 a0004c0061t0005 a0005c0005t0002 a0005c0032t0002 a0005c0051t0003 a0006c0021t0002 a0006c0024t0002 a0006c0025t0005 a0007c0017t0003 a0007c0081t0004 a0007c0087t0002 a0008c0002t0001 a0008c0028t0001 a0008c0077t0001 a0008c0078t0001 a0009c0003t0001 a0009c0047t0001 a0010c0015t0001 a0010c0027t0001 a0011c0014t0001 a0012c0055t0001 a0013c0062t0002 a0013c0063t0002 a0015c0088t0006 a0020c0036t0005 a0026c0057t0012 a0032c0091t0001	a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0098 others(51): Show a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0133 a0001c0001t0001g0154 a0002c0004t0003g0044 a0002c0006t0005g0102 a0002c0038t0002g0014 a0002c0040t0005g0097 a0002c0052t0002g0119 a0003c0009t0004g0039 a0003c0009t0004g0132 a0003c0010t0003g0067 a0003c0016t0002g0015 a0003c0016t0008g0093 a0003c0086t0003g0161 a0004c0007t0002g0096 a0004c0007t0017g0042 a0004c0008t0003g0010 a0004c0008t0003g0074 a0004c0013t0002g0047 a0004c0061t0005g0046 a0005c0005t0002g0064 a0005c0005t0002g0121 a0005c0005t0002g0146 a0005c0032t0002g0050 a0005c0051t0003g0167 a0006c0021t0002g0002 a0006c0024t0002g0141 a0006c0025t0005g0012 a0007c0017t0003g0018 a0007c0017t0003g0063 a0007c0081t0004g0048 a0007c0087t0002g0077 a0008c0002t0001g0025 a0008c0002t0001g0032 a0008c0028t0001g0140 a0008c0077t0001g0147 a0008c0078t0001g0094 a0009c0003t0001g0023 a0009c0003t0001g0061 a0009c0003t0001g0110 a0009c0047t0001g0123 a0010c0015t0001g0106 a0010c0027t0001g0152 a0011c0014t0001g0127 a0012c0055t0001g0009 a0013c0062t0002g0011 a0013c0063t0002g0082 a0015c0088t0006g0116 a0020c0036t0005g0166 a0026c0057t0012g0089 a0032c0091t0001g0005	54	170	0.3177	-299	c.974 others(19): Show c.974+32091_974+32389del	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMIGD2_chr19_4287227_4307389	4293175	ATGGTCTT others(292): Show ATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTT TTTGAGACAGTCTTACTCTGTCACCTGGGCTGGAGTGTAGCAGCGGTGCG ATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTCAAGTGATTCTCCTGC CTCAGTCTCCCTAGTAGCTGGGATTACAAGCCCCCGCTACTACGTCTGGC TAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACCACGTTGGCCAGGC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03139.hp1 HG02622.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	436	0.0046	-299	c.551 others(15): Show c.551-589_551-291del	TMIGD2	ENSG00000167664.9	transcript	ENST00000595645.6	protein_coding	4/4			chr19	TogoVar
TMIGD2_chr19_4287227_4307389	4293262	TTTTTTTT others(292): Show TTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCACCTGGGCTGGAGTG TAGCAGCGGTGCGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTCAA GTGATTCTCCTGCCTCAGTCTCCCTAGTAGCTGGGATTACAAGCCCCCGC TACTACGTCTGGCTAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACC ACGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCGTGATTCGCCCGCCGT GGCCTCCCAAAATGCTGGGATTACATGCATGAGCCACTGCACCCGGCCAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02056.hp1 HG00673.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0023 a0001c0002 a0001c0023	a0001c0002t0003 a0001c0023t0003 a0001c0002t0003 a0001c0023t0003	a0001c0002t0003g0171 a0001c0023t0003g0172 a0001c0002t0003g0171 a0001c0023t0003g0172	2	436	0.0046	-299	c.551 others(15): Show c.551-676_551-378del	TMIGD2	ENSG00000167664.9	transcript	ENST00000595645.6	protein_coding	4/4			chr19	TogoVar
USP34_chr2_61182463_61476087	61395508	TAAAATCC others(292): Show TAAAATCCCGGCCGGACGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCACTCCCG CCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02895.hp1 HG02965.hp2 others(4): Show HG02809.hp2 HG02895.hp1 HG02965.hp2 HG03098.hp2 HG03209.hp1 NA18522.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0001c0009 a0005c0026 a0001c0005 a0001c0009 a0005c0026	a0001c0005t0021 a0001c0009t0009 a0001c0009t0013 others(1): Show a0001c0005t0021 a0001c0009t0009 a0001c0009t0013 a0005c0026t0009	a0001c0005t0021g0074 a0001c0009t0009g0075 a0001c0009t0009g0076 others(4): Show a0001c0005t0021g0074 a0001c0009t0009g0075 a0001c0009t0009g0076 a0001c0009t0009g0077 a0001c0009t0013g0072 a0001c0009t0013g0073 a0005c0026t0009g0078	7	312	0.0224	-299	c.553 others(15): Show c.553-574_553-276del	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	3/79			chr2	TogoVar
XKR6_chr8_10891045_11206833	11026158	GACACACC others(292): Show GACACACCTAGATGGTCTAGCCTACTACACACCTAGATGGTCTAGCCTAC TACACACTTAGATGGTCTAGCCTACTACACACCTAGATAGTCTAGCCTAC TACACTCTTAATGGTGTTGCCTACTACACACCTAGATGGTCTAGCCTACT ACACACCTAGATGGTCTAGCCTACTATACACTTAGATAGTGTTGCCTACT ACACACCTAAATGGTCTGGCCTACTACACACTTAGATGGTCTAGCCTACT ACACACCTAGATGGTCTAGCCTACTACACACTTAGATAGTCTAGCCTACT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0046	1	178	0.0056	-299	c.765 others(21): Show c.765-101627_765-101329del	XKR6	ENSG00000171044.11	transcript	ENST00000416569.3	protein_coding	1/2			chr8	TogoVar
ZNF516_chr18_76352682_76500242	76394468	CGGGAAGG others(292): Show CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02258.hp1 others(4): Show HG02055.hp1 HG02257.hp1 HG02258.hp1 HG03831.hp1 NA18948.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0005 a0001c0032 others(3): Show a0001c0001 a0001c0005 a0001c0032 a0001c0045 a0002c0022 a0014c0040	a0001c0001t0009 a0001c0001t0023 a0001c0005t0104 others(4): Show a0001c0001t0009 a0001c0001t0023 a0001c0005t0104 a0001c0032t0008 a0001c0045t0131 a0002c0022t0093 a0014c0040t0027	a0001c0001t0009g0334 a0001c0001t0023g0265 a0001c0005t0104g0074 others(4): Show a0001c0001t0009g0334 a0001c0001t0023g0265 a0001c0005t0104g0074 a0001c0032t0008g0133 a0001c0045t0131g0021 a0002c0022t0093g0069 a0014c0040t0027g0131	7	346	0.0202	-299	c.181 others(21): Show c.1811-14464_1811-14166del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADARB2_chr10_1172313_1742525	1540527	CGTAGTTC others(291): Show CGTAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGATGTAGT TCAGACCCTGGATCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGG ATCACAGCCGTCCAGACCCCACTCAGACGCAGTTTGGACCCTGGATCACA GCCGTCCAGACCCCACTCAGACGCAGTTCGGACTCTGGATCCGTCCAGAT CCCACTCAGACGTAGTTCAGACCCTGGATCACAGCCATCCAGACCCCACT CAGATGTAGTTCAGACCCTGGATCACAGCCATCCAGACCCCACTCAGAT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	106	0.0094	-298	c.101 others(21): Show c.101-161665_101-161368del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ANKRD30B_chr18_14743172_14859667	14858758	GGGGGGGC others(291): Show GGGGGGGCAGCCAGGCAGAGGGGCTCCTCACCTCCCAGACAATGGGCAGC CAGGCAGAGGTGCTCCTCATTTCCCAGACGGGGTGGCCAGGCAGAGGCAC TCCTCACCTCCCAGACATCACGGCCAGGCAGAGGTGCTCCCCACTTCCCA GACGGGGCGGCTGGGCAGAGGCGCTCCTCACCTCCCAGATGAGGCGGCCT GGCAGAGGAACTCCTCACCTCCCAGATGATGGGCAGCTGGGCAAAGGCGC TCCTCACCTCCCAGACTGGGCGGCCAGGCAGAGGTGCTCCTCGCCTCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01255.hp2 HG01106.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0279 a0001c0001t0003g0275 a0001c0001t0003g0279	2	316	0.0063	-298	c.46 others(11): Show c.4601_*4898del	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding		4092		chr18	TogoVar
ANKRD30B_chr18_14743172_14859667	14859369	GGAAGAGG others(291): Show GGAAGAGGTGCTCCTCACTTCCCAGATGGGGCAGCCAGGCAGAGGCGCTC CTCACTTCCCAGATGGTGTGTCATCCGTGAAGAGGCGCTTCTCACCTCCC AGATGATTGGCAGCCAGAGAAAGGTGCTCCTCACTTCCCAGATGGGGCGG CCGAGAAATGCCACTCCCCATTCCCAGATGGGGTGGAGGTCAGGCAGAGG CGCTCCTCACCTCCCAGATGGGGCAGCCGGGCAGAGGCGCTCCTCACCTC CCAGATGGGGAGGCTGGGCAGAGGCGCTCTTCACTTCCCAGAGGGGGTG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0275	1	316	0.0032	-298	c.52 others(11): Show c.5212_*5509del	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding		4703		chr18	TogoVar
CCDC77_chr12_396644_447642	420141	CCTCCATG others(291): Show CCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAATACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACT TCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCAC CCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTT CTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA20905.hp1 HG01433.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0209 a0001c0001t0010g0281 a0001c0001t0010g0209 a0001c0001t0010g0281	2	432	0.0046	-298	c.413 others(17): Show c.413+1513_413+1810del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421109	CTCCATTA others(291): Show CTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ATACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGT TCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAT ACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp1 NA20905.hp1 HG01433.hp1 HG01884.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0401 a0001c0001t0010g0209 a0001c0001t0010g0281 a0001c0001t0004g0401 a0001c0001t0010g0209 a0001c0001t0010g0281	3	432	0.0069	-298	c.413 others(17): Show c.413+2523_413+2820del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHMP3_chr2_86498430_86568443	86548985	AGCCTCCC others(291): Show AGCCTCCCAGATGGGGCGGCCAGGCAGAGGCGCTCCCCACCTCCCAGATG AAGGGCAGCCGGGCAGAGGCGCCCCCCACTTCCCAGACGGGGTGGCGGCC GGGCAGAGACGCCCCTCACCTCCCAGACGGGGCGGCCGGGAAGAGGCGCC CCTCACGTCCCAGACGGGGCGGCCGGGCAGAGGCGCCCACTTCCCAGACT GGGCAGCCGGGCAGAGGCGCTCCTCGCCTCCCAGACAGGGCGGCCGGGCA GAGGCGCTCCTCGCCTCCCAGACGGGGCGGCAGGGCAGAGGCGCTCCTC	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	336	0.0030	-298	c.46- others(15): Show c.46-6971_46-6674del	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5			chr2	TogoVar
CLIC4_chr1_24740447_24849321	24799715	CGCCCGGC others(291): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCT GCCCGGCCAGCTGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCG GGGGGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA20805.hp2 HG02486.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0089 a0001c0001t0021g0230 a0001c0001t0001g0089 a0001c0001t0021g0230	2	344	0.0058	-298	c.182 others(17): Show c.182+2211_182+2508del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIP2_chr7_74284407_74410935	74369857	AAAAAAAA others(291): Show AAAAAAAAAAAAAAAAAAAAAATCCAGGCACGGTGGCTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGCTCC AAACCAGCCTGGCTAACATGGCGAAACCCCATCTCTACTAAAAATACAAA AATTAGCTGGGCATAGTGGTGCTTGCCTGTAATTCCAGCTACTCGGAAGG CTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCTGAGCCAG GCTCCCTCCACTGCACTCCAGCCTGAGTAACAGAGCGAGACTCTGCCTC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01952.hp2 HG02055.hp1 others(9): Show HG01175.hp1 HG01952.hp2 HG02055.hp1 HG02071.hp1 HG03669.hp2 HG04184.hp1 NA18951.hp1 NA18952.hp1 NA19000.hp1 NA19068.hp1 NA19079.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 a0001c0001 a0001c0002 a0001c0018	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0018t0001	a0001c0001t0002g0188 a0001c0001t0005g0206 a0001c0001t0017g0260 others(9): Show a0001c0001t0002g0188 a0001c0001t0005g0206 a0001c0001t0017g0260 a0001c0002t0001g0088 a0001c0002t0001g0139 a0001c0002t0001g0170 a0001c0002t0001g0216 a0001c0002t0001g0276 a0001c0002t0002g0238 a0001c0002t0002g0243 a0001c0002t0002g0253 a0001c0018t0001g0095	12	278	0.0432	-298	c.138 others(19): Show c.1381-3054_1381-2757del	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNBD2_chr20_35963590_36035700	35975169	TTTTTTGT others(291): Show TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTTTTTTTTTATTTTTT GAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02451.hp2 HG02559.hp2 others(2): Show HG00099.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG03041.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0019 a0001c0001 a0002c0002 a0007c0019	a0001c0001t0001 a0002c0002t0002 a0007c0019t0002 a0001c0001t0001 a0002c0002t0002 a0007c0019t0002	a0001c0001t0001g0018 a0001c0001t0001g0123 a0002c0002t0002g0124 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0123 a0002c0002t0002g0124 a0002c0002t0002g0126 a0007c0019t0002g0125	5	268	0.0187	-298	c.190 others(15): Show c.190-774_190-477del	CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNTNAP2_chr7_146111801_148425998	148365873	TGCATGTA others(291): Show TGCATGTATACATGTATGTGTATGCATGTATACATGCGTGTATGCATGTA TACATGCGTGTATGCATGTATACATGCGTGTATGCATGTATACATGTGTG TATGCATGTATACATGTGTGTATGCATGTATGCATGTGTGTATGCATGTA TGCATGTGTGTGTATGCATGTATGCATGTGTGTGTATGCATGTATGCATG TATGTGTGTGCATGTATACATGTATGTGTATGCATGTATGCATGTATGTG TATGCATGTATGCATGTATGTGTATGCATGTATGCATGTATGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp2 HG03098.hp2 HG02630.hp1 HG02630.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0001 a0001c0002t0002 a0001c0012t0004 a0001c0002t0001 a0001c0002t0002 a0001c0012t0004	a0001c0002t0001g0021 a0001c0002t0002g0013 a0001c0012t0004g0026 a0001c0002t0001g0021 a0001c0002t0002g0013 a0001c0012t0004g0026	3	40	0.0750	-298	c.347 others(21): Show c.3476-17775_3476-17478del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23			chr7	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112452347	TTTTTTTT others(291): Show TTTTTTTTTTTTTTTTAGACAGAGTTTCACTCTTGTTGCTCAGGCTGGAG TGCAATGGCACAATCTTGGCTCACCACAACCTCTGCCTACTGGGTTCAAG CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCC ACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATG TTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCTGCTTTG GCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCACTCCTGGCCTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03195.hp1 HG01433.hp1 HG03195.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0017 a0001c0010t0017	a0001c0010t0017g0034 a0001c0010t0017g0035 a0001c0010t0017g0034 a0001c0010t0017g0035	2	324	0.0062	-298	c.331 others(17): Show c.331-2088_331-1791del	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DEFA4_chr8_6930820_6943306	6933370	AGAAGTAT others(291): Show AGAAGTATCCCTAAGCCCATGAACGTGTTTGAATGCTTTCTCTGCATGTG AGGCTCCAACCTTTCCGGCCACAGACTGAGTTTGTGCTGAGGCATCATTA GCTGGTTTGTATTCATGCCTGGTCATGGGGAAGGCCACCTGCCTCTGATT GTGGGGGTTGCTGGTGTTTAAGCTTTAGTGCCATGGGTCCCATTCAATAT CTAAGGATCGGGTTTCCTGGCTTGGATCCAGTCAGGTGGCATTTGGGGTT TTGCCCCTCTAGCACATTGCCTCAACATGCCACAGTTTTCCAGCCTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(421): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0003c0004 a0004c0006 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0005t0002 a0001c0007t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0003c0004t0002 a0004c0006t0001 a0005c0008t0002	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(39): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0028 a0001c0001t0002g0035 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0005g0040 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0001g0025 a0001c0002t0001g0038 a0001c0002t0003g0007 a0001c0002t0003g0020 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0026 a0001c0002t0003g0036 a0001c0002t0003g0039 a0001c0002t0003g0042 a0001c0005t0002g0017 a0001c0007t0002g0032 a0002c0003t0001g0005 a0002c0003t0001g0024 a0002c0003t0002g0031 a0002c0003t0006g0047 a0003c0004t0002g0013 a0004c0006t0001g0037 a0005c0008t0002g0034	424	486	0.8724	-298	c.23 others(11): Show c.2352_*2649del	DEFA4	ENSG00000164821.5	transcript	ENST00000297435.3	protein_coding		2449		chr8	TogoVar
DGKB_chr7_14140049_14907751	14212132	TTTTACTC others(291): Show TTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTT TTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATT TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTC ATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTT GTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0148 a0001c0002t0042g0148	1	148	0.0068	-298	c.212 others(21): Show c.2123-34279_2123-33982del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DLGAP2_chr8_732628_1713476	965174	GCTGCACA others(291): Show GCTGCACACGGCACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCGCA CTGCACACGGCACTGTTCACCTCACACGGCTCCTGAGCCCAACCCCCGCG TGCACACGGCACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCTGCGC TGCACACGGCACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCTGCGC TGTACACGGCACTGTTCATCACACACGCGGCTCCAGAGCCCGACCCCCGC ATGCACACAGCGCTGTTCACCACACAGGGCTCCTGAGTCTGACCCCGCA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	40	0.0250	-298	c.73+ others(17): Show c.73+57255_73+57552del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOP1B_chr21_36151824_36299274	36215780	CGAGGCAG others(291): Show CGAGGCAGGTGGATCATGAGGTCAGGAGTTCAGGACCAGCCTGGCCAAGA TGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTG GCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAAGAGAATCGC TTGAACCAGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCAC TCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAGAAAAGAAATTTG CGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(287): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023	a0001c0001 a0001c0002 a0001c0003 others(41): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0015 a0001c0025 a0001c0026 a0001c0028 a0001c0034 a0001c0035 a0001c0036 a0001c0038 a0001c0042 a0001c0044 a0001c0045 a0002c0004 a0003c0008 a0003c0012 a0004c0007 a0004c0032 a0005c0011 a0005c0014 a0005c0017 a0005c0030 a0006c0009 a0007c0016 a0007c0022 a0008c0013 a0009c0010 a0010c0019 a0011c0018 a0012c0020 a0013c0021 a0014c0024 a0015c0043 a0016c0041 a0017c0040 a0018c0033 a0019c0031 a0020c0037 a0021c0029 a0022c0027 a0023c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0015t0001 a0001c0025t0002 a0001c0026t0002 a0001c0028t0001 a0001c0034t0001 a0001c0035t0003 a0001c0036t0003 a0001c0038t0001 a0001c0042t0001 a0001c0044t0002 a0001c0045t0002 a0002c0004t0001 a0002c0004t0002 a0003c0008t0001 a0003c0008t0002 a0003c0012t0001 a0004c0007t0001 a0004c0032t0001 a0005c0011t0001 a0005c0014t0001 a0005c0014t0002 a0005c0017t0001 a0005c0017t0002 a0005c0030t0001 a0006c0009t0001 a0007c0016t0002 a0007c0022t0002 a0008c0013t0001 a0008c0013t0002 a0009c0010t0002 a0010c0019t0001 a0011c0018t0001 a0012c0020t0001 a0013c0021t0002 a0014c0024t0001 a0015c0043t0001 a0016c0041t0001 a0017c0040t0002 a0018c0033t0002 a0019c0031t0001 a0020c0037t0001 a0021c0029t0001 a0022c0027t0004 a0023c0023t0001	a0001c0001t0001g0047 a0001c0001t0001g0071 a0001c0001t0001g0072 others(287): Show a0001c0001t0001g0047 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0040 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0006g0080 a0001c0001t0008g0224 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0074 a0001c0002t0001g0079 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0093 a0001c0002t0001g0099 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0112 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0146 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0184 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0193 a0001c0002t0001g0198 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0226 a0001c0002t0001g0245 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0269 a0001c0002t0001g0276 a0001c0002t0001g0280 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0002g0006 a0001c0002t0002g0021 a0001c0002t0002g0036 a0001c0002t0002g0038 a0001c0002t0002g0044 a0001c0002t0002g0064 a0001c0002t0002g0069 a0001c0002t0005g0026 a0001c0002t0007g0123 a0001c0003t0001g0052 a0001c0003t0001g0081 a0001c0003t0001g0120 a0001c0003t0001g0160 a0001c0003t0001g0175 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0211 a0001c0003t0001g0216 a0001c0003t0001g0220 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0251 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0275 a0001c0003t0002g0002 a0001c0003t0002g0011 a0001c0003t0002g0024 a0001c0003t0002g0042 a0001c0003t0002g0053 a0001c0003t0002g0063 a0001c0003t0003g0088 a0001c0003t0003g0114 a0001c0003t0003g0119 a0001c0003t0003g0131 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0156 a0001c0003t0003g0194 a0001c0003t0003g0206 a0001c0003t0004g0097 a0001c0005t0001g0049 a0001c0005t0001g0227 a0001c0005t0001g0242 a0001c0005t0001g0259 a0001c0005t0001g0260 a0001c0005t0001g0263 a0001c0005t0001g0265 a0001c0005t0001g0266 a0001c0005t0001g0270 a0001c0005t0001g0271 a0001c0005t0001g0272 a0001c0005t0001g0273 a0001c0005t0001g0274 a0001c0006t0001g0158 a0001c0006t0001g0159 a0001c0006t0001g0163 a0001c0006t0001g0168 a0001c0006t0001g0207 a0001c0006t0002g0008 a0001c0006t0002g0009 a0001c0006t0002g0025 a0001c0006t0002g0054 a0001c0006t0002g0055 a0001c0006t0002g0056 a0001c0006t0002g0058 a0001c0006t0003g0142 a0001c0015t0001g0176 a0001c0015t0001g0177 a0001c0015t0001g0178 a0001c0025t0002g0057 a0001c0026t0002g0010 a0001c0028t0001g0164 a0001c0034t0001g0261 a0001c0035t0003g0290 a0001c0036t0003g0145 a0001c0038t0001g0257 a0001c0042t0001g0286 a0001c0044t0002g0043 a0001c0045t0002g0001 a0002c0004t0001g0050 a0002c0004t0001g0070 a0002c0004t0001g0076 a0002c0004t0001g0100 a0002c0004t0001g0117 a0002c0004t0001g0121 a0002c0004t0001g0126 a0002c0004t0001g0143 a0002c0004t0001g0147 a0002c0004t0001g0148 a0002c0004t0001g0150 a0002c0004t0001g0152 a0002c0004t0001g0189 a0002c0004t0001g0228 a0002c0004t0001g0244 a0002c0004t0001g0247 a0002c0004t0001g0282 a0002c0004t0002g0004 a0002c0004t0002g0007 a0002c0004t0002g0019 a0002c0004t0002g0020 a0002c0004t0002g0022 a0002c0004t0002g0028 a0002c0004t0002g0031 a0002c0004t0002g0039 a0002c0004t0002g0066 a0002c0004t0002g0068 a0003c0008t0001g0101 a0003c0008t0001g0109 a0003c0008t0001g0115 a0003c0008t0001g0116 a0003c0008t0001g0118 a0003c0008t0001g0125 a0003c0008t0001g0288 a0003c0008t0002g0035 a0003c0008t0002g0041 a0003c0012t0001g0104 a0003c0012t0001g0110 a0003c0012t0001g0254 a0004c0007t0001g0075 a0004c0007t0001g0086 a0004c0007t0001g0087 a0004c0007t0001g0090 a0004c0007t0001g0091 a0004c0007t0001g0092 a0004c0007t0001g0094 a0004c0007t0001g0095 a0004c0007t0001g0096 a0004c0032t0001g0195 a0005c0011t0001g0149 a0005c0011t0001g0171 a0005c0011t0001g0255 a0005c0014t0001g0161 a0005c0014t0002g0003 a0005c0014t0002g0067 a0005c0017t0001g0264 a0005c0017t0002g0048 a0005c0030t0001g0192 a0006c0009t0001g0051 a0006c0009t0001g0185 a0006c0009t0001g0262 a0006c0009t0001g0278 a0006c0009t0001g0279 a0007c0016t0002g0013 a0007c0016t0002g0015 a0007c0022t0002g0016 a0008c0013t0001g0229 a0008c0013t0002g0023 a0008c0013t0002g0029 a0009c0010t0002g0032 a0009c0010t0002g0033 a0009c0010t0002g0034 a0010c0019t0001g0222 a0010c0019t0001g0223 a0011c0018t0001g0082 a0011c0018t0001g0083 a0012c0020t0001g0153 a0012c0020t0001g0186 a0013c0021t0002g0014 a0014c0024t0001g0210 a0015c0043t0001g0208 a0016c0041t0001g0277 a0017c0040t0002g0018 a0018c0033t0002g0005 a0019c0031t0001g0204 a0020c0037t0001g0077 a0021c0029t0001g0103 a0022c0027t0004g0157 a0023c0023t0001g0240	290	292	0.9932	-298	c.112 others(19): Show c.1129+1538_1129+1835del	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	9/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DPH7_chr9_137549444_137583925	137565600	ACTCTGTC others(291): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG04184.hp1 NA18947.hp2 others(2): Show HG00621.hp1 HG04184.hp1 NA18947.hp2 NA18985.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0094 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0094 a0001c0001t0001g0164 a0001c0011t0001g0315	5	340	0.0147	-298	c.641 others(15): Show c.641-744_641-447del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566574	TCTGTCTG others(291): Show TCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp2 HG01256.hp2 others(11): Show HG00558.hp2 HG00741.hp2 HG01256.hp2 HG01943.hp1 HG02145.hp2 HG03688.hp2 HG04115.hp1 HG04204.hp2 NA18950.hp2 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA19000.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0106 a0001c0001t0001g0107 others(11): Show a0001c0001t0001g0056 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0130 a0001c0001t0001g0156 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0222	14	340	0.0412	-298	c.641 others(17): Show c.641-1718_641-1421del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567137	CTCTGTCT others(291): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGA GGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCT GTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCT GGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAA GCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	340	0.0029	-298	c.641 others(17): Show c.641-2281_641-1984del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567600	TGGGTGAC others(291): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTG TCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	340	0.0029	-298	c.641 others(17): Show c.641-2744_641-2447del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
FAM3A_chrX_154501171_154521232	154504951	GCCACCAC others(291): Show GCCACCACGCCCGGCCACTGTATTGTTTTTTACTTGTACTATTTTTTATT CTTGTATTTTTATTTTTTCCAAGTATTTCCAATCTGTGGTTGGTTGAATC TGTGGACATGGAACCCCCATGGATATGAAGGGCCGATTGTATGCTAGTCT GTCTCCTGGAGATGTTTGCAATTTTCCATAGCAAGTCTAAAGAGTGAAGT GTGTATGATCCTGCAGTGGATCCATCATTACACATTTTTGTCCAAACCCA CTGAACGTCCAACAGCAAACTGAAGCCTCATGTGAGCACCGATACTGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG06807.hp2 NA18906.hp1 HG03453.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	3	339	0.0089	-298	c.15 others(11): Show c.1562_*1859del	FAM3A	ENSG00000071889.17	transcript	ENST00000447601.7	protein_coding		1219		chrX	TogoVar
FGF12_chr3_192134390_192732541	192641106	TTTTTTTT others(291): Show TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGG AGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTG CCACTACGCCCGCCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02145.hp2 NA18971.hp1 others(1): Show HG02132.hp2 HG02145.hp2 NA18971.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011	a0001c0001t0002g0061 a0001c0001t0004g0026 a0001c0001t0005g0075 others(1): Show a0001c0001t0002g0061 a0001c0001t0004g0026 a0001c0001t0005g0075 a0001c0001t0011g0048	4	90	0.0444	-298	c.13+ others(17): Show c.13+85777_13+86074del	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FUT8_chr14_65407730_65749121	65716871	CCTCACCT others(291): Show CCTCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACTTCCCAG ATGGGGCGGCCGGGCAGAGGCACTCCCCACTTCCCAGACGGGGCGGCCGG GCAGAGGTGCTCCACACTTCCCAGACGGGGTGGCCGGGCAGAGGCGCTCC ACACTTCCCAGACGGGGTGGCCGGGCAGAGGTGCTCCCCACTTCCCAGAT GGGGCGGCCGGGCAGAGGCGTTCCCCACTTCCCAGACGACGGGCAGCCGG GCAGAGGCGCTCCTCATTTCCCAGATGGGGCGGCCGGGCAGAGGCGCTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0260 a0001c0001t0003g0260	1	374	0.0027	-298	c.836 others(17): Show c.836-4865_836-4568del	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT9_chr12_132191372_132334589	132235660	CCCCTCGG others(291): Show CCCCTCGGGACAGGGCAGGAGGGTCCCCCGGGCTGGAGTTCAACCCTCGG GACAGGGCAGGAGGGTCCCCCGGGCTGGAGTGAGTTCAACCCTCGGGACA GGGCAGGAGGGTCCCCCGGGCTGGAGTTCAACCCTCGGGACAGGGCAGGA GGGTCCCCCGGGCTGGAGTTCAACCCTCGGGACAGGGCAGGAGGGTCCCC CGGGCTGGAGTTCAACCCTCGGGACAGGGCAGGAGGGTCCCCCGGGCTGG AGTTCAACCCTCGGGACAGGGCAGGAGGGTCCCCCGGGCTGGAGTTCAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG03041.hp1 HG00733.hp1 HG01175.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0002t0001g0081 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0002t0001g0081	3	183	0.0164	-298	c.107 others(21): Show c.1077+11952_1077+12249del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GRM4_chr6_34013643_34151087	34044647	TACATACA others(291): Show TACATACATACACATATATACACAGACACACACACACAGACATACATACA CATATATACAGACACACACACATACACACACAGACATACATACATACACA TATATACACATACACACACATAGACATACACATACACACACAGACATACA TACATACACATATATAGTCACACACACATAGACATACATACACATATATA CATAGACACACACACAGACATACATACACATATATACAGACATACACATA CACACACAGACATACATACACATATATACACAGACACACACACACATAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02129.hp1 HG02451.hp1 others(2): Show HG01243.hp2 HG02129.hp1 HG02451.hp1 NA19030.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005	a0001c0002t0001g0014 a0001c0002t0002g0167 a0001c0002t0003g0140 others(2): Show a0001c0002t0001g0014 a0001c0002t0002g0167 a0001c0002t0003g0140 a0001c0002t0004g0185 a0001c0002t0005g0173	5	282	0.0177	-298	c.116 others(19): Show c.1169-4197_1169-3900del	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	6/10			chr6	TogoVar
GRM7_chr3_6856115_7746533	7305337	TTTTTTCT others(291): Show TTTTTTCTTTTTTTTTTTTTTTAATTATACTTTAAGTTTTAGGATACATG TGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGC GCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCTA TCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCC CCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAG AATATGCAGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00738.hp2 others(17): Show HG00140.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01106.hp2 HG01433.hp1 HG01978.hp2 HG01981.hp2 HG02622.hp1 HG02717.hp2 HG03209.hp2 HG03471.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18522.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0013 a0002c0006 a0002c0007 a0002c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 a0001c0004t0004 a0001c0005t0001 a0001c0005t0003 a0001c0005t0008 a0001c0013t0001 a0002c0006t0007 a0002c0007t0001 a0002c0007t0003 a0002c0019t0003	a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0033 others(17): Show a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0003g0063 a0001c0001t0005g0055 a0001c0002t0001g0080 a0001c0003t0001g0018 a0001c0003t0001g0032 a0001c0003t0001g0065 a0001c0003t0001g0068 a0001c0004t0004g0008 a0001c0004t0004g0043 a0001c0005t0001g0034 a0001c0005t0003g0039 a0001c0005t0008g0028 a0001c0013t0001g0048 a0002c0006t0007g0027 a0002c0007t0001g0050 a0002c0007t0003g0075 a0002c0019t0003g0036	20	80	0.2500	-298	c.879 others(16): Show c.879-1155_879-858del	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRTP1_chr13_113319163_113369130	113346621	CGGGAGGA others(291): Show CGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTG GGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAG AGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTC TGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	288	0.0035	-298	c.466 others(17): Show c.466-1960_466-1663del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346739	CGGGAGGA others(291): Show CGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAA AGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACC TCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACC CGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0003 a0008c0012t0003	a0008c0012t0003g0268 a0008c0012t0003g0268	1	288	0.0035	-298	c.466 others(17): Show c.466-2078_466-1781del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
KIAA1671_chr22_24947716_25202448	25000194	TTTTTTTT others(291): Show TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCGCG CCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03516.hp1 HG00438.hp1 HG03516.hp1	a0001 a0013 a0001 a0013	a0001c0007 a0013c0115 a0001c0007 a0013c0115	a0001c0007t0005 a0013c0115t0004 a0001c0007t0005 a0013c0115t0004	a0001c0007t0005g0198 a0013c0115t0004g0229 a0001c0007t0005g0198 a0013c0115t0004g0229	2	254	0.0079	-298	c.-20 others(21): Show c.-207-25421_-207-25124del	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
L3MBTL2_chr22_41200312_41236271	41208088	ACCCAAAG others(291): Show ACCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCACCCAGCTTTTTTT TCTTTTTCTTTGGAGACAGGATGTCATTCTCTTGCCCAGGCTGGATTGCA GTGGCATGGTTATGGCTCACTACAGCCTTGACCTCCCAGGCTCAAGCAGT CCTTCCACCTCAGCTCCAAGAAGCTGGGACTACAGGCGCATGCCACCACA CCTGGCTAATTTTTTTTTCTTTTGTAGAGATGGGGTGTGGCTGTGTTGCC AAGGCTGGTCTCAAACTCCTGGGTTCAAGCAATCCACCTGCCTCAGCCT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0225 a0001c0002t0004g0225	1	370	0.0027	-298	c.25- others(15): Show c.25-1589_25-1292del	L3MBTL2	ENSG00000100395.15	transcript	ENST00000216237.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
LRRC74B_chr22_21040946_21069168	21064367	TTCACACC others(291): Show TTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCAGGTCGCC TGAGCCCAGGGGTTTGAGACCAACCCTGAGAACATGGTGAAACCCTGTAT CTACAAAAAATACAAAAAATTAGCTGGGCAAGGTGGCACATGCCTGTAGT CCCAGCTATTCGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTGAGGAGG TTCAAGGCTGCAGTGAGCCATGATCTCACCACTGCACTCCAGCCTGGGCA ACAGAATGAGACGTTGTCTCAAAAAATAAAATAGGCTGGGCACGACGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0181 a0001c0001t0181	a0001c0001t0181g0003 a0001c0001t0181g0003	1	454	0.0022	-298	c.26 others(11): Show c.2694_*2991del	LRRC74B	ENSG00000187905.11	transcript	ENST00000442047.3	protein_coding		200		chr22	TogoVar
NSMCE2_chr8_125086860_125372120	125272630	TTTATACT others(291): Show TTTATACTGCCACAATAAAACAGTTATAGAAATTGCCTTATTATGTATAT ATATATCCCAGCTACTTGGGATATATATATATATATAATATATATATATA CACACACACACATATATATACACACGTATATATATATACACACACACGTA TATATATACACATGTGTATATATATACACACACGTATATATATACACATA TATATACACACGTATATACACACACACATATATATACACACGTATACGTG TGTGTATATATATATAAAAGGCTGTGTAATACGGTGGAAAGAGAACTGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01069.hp1 others(10): Show HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG01169.hp2 HG01891.hp2 HG02109.hp1 HG02717.hp2 HG02965.hp2 HG03516.hp2 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0085 a0001c0001t0001g0191 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0085 a0001c0001t0001g0191 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0015	13	244	0.0533	-298	c.419 others(19): Show c.419-84588_419-84291del	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7			chr8	TogoVar
NXN_chr17_794310_984776	894052	TCCCTGGA others(291): Show TCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGC ATCTCAACTCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCC AGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGC CCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCA TCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCC AGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACG	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02258.hp2 HG01346.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0004 a0001c0001t0005 a0001c0002t0004	a0001c0001t0005g0007 a0001c0002t0004g0158 a0001c0001t0005g0007 a0001c0002t0004g0158	2	242	0.0083	-298	c.361 others(19): Show c.361-68272_361-67975del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OTUD7A_chr15_31470398_31875673	31510559	TACATATG others(291): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG04204.hp1 HG02055.hp1 HG02622.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0001t0009 a0001c0009t0067 a0001c0001t0004 a0001c0001t0009 a0001c0009t0067	a0001c0001t0004g0091 a0001c0001t0009g0015 a0001c0009t0067g0231 a0001c0001t0004g0091 a0001c0001t0009g0015 a0001c0009t0067g0231	3	244	0.0123	-298	c.894 others(17): Show c.894-7039_894-6742del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510607	CATACATA others(291): Show CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATATATGTATATCTATATGTAACATATATGTATATCTATATGTAACAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp1 HG02055.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0040 a0001c0001t0013 a0001c0001t0040	a0001c0001t0013g0023 a0001c0001t0040g0024 a0001c0001t0013g0023 a0001c0001t0040g0024	2	244	0.0082	-298	c.894 others(17): Show c.894-7087_894-6790del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PAK2_chr3_196734857_196837647	196825065	ACCAGACG others(291): Show ACCAGACGCAGCGGCTCATGCCTGTAATACCAGCACTTTGGGAGGCCAAG GTGGGCAGATCGCTTGAGGTTAGGAGTTTGAGACCAGCCTGGCCAATGTG GTGAAACCCCACCTCTACTAAAAATACAAAAATTAGTCAGGCGTAATGGT GCATGCCTGTACTCCCAGCTACTCGGGAGGCTGAGCTGCAAGAATTGCTG GAACCCGGGAGGCAGAGGTTGCCATGTGTTGAGATCATGCCACTGCATTC CAGCCTGGGCAACAGAGCGAGACTGTGTCTGAAAAGAAAAATAAATAGG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	178	0.0056	-298	c.135 others(19): Show c.1351-2125_1351-1828del	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R3B_chrX_328933_391907	343687	CCAACGGG others(291): Show CCAACGGGAGGCGGGAGTGAGACCTCAGCAACGGGAGGCGGGAGTGAGAC CTCACCAAGGAGACGCGGGAGTGAGACCTCAGCAACGGGAGGGGGGGAGG GAGACCTCACCAAGGAGACGCGGGAGTGAGACCTCAGCAACGGGAGGCGG TAGGGAGACCTCACCAAGGAGACGCGGGAGTGAGACCTCAGCAACGGGAG GCGGGAGGGAGACCTCACCAAGGAGAGGCGGGAGGGAGACCTCAGCAACG GGAGGCGGGAGGGAGACCTCAGCAACGGGAGGCGGGAGGGAGACCTCAG	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02630.hp1 HG03704.hp2 HG02165.hp1 HG02630.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0008 a0001c0001t0001 a0001c0007t0008	a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0007t0008g0015 a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0007t0008g0015	3	25	0.1200	-298	c.103 others(19): Show c.1036+1531_1037-1757del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	7/12			chrX	TogoVar
PXDN_chr2_1626887_1749515	1704155	GGGGGGGC others(291): Show GGGGGGGCAACTCCAGGTGAAGGAGGGCAACTCCAGGTGAAGGTGGGGGA CAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGCAACTCCAG GTGAAGGGGGGGACAGCTCCAGGTGAAGCGGGGGACAGCTCCAGGTGAAG GAAGGACAACTCCAGGTGAAGCGGGGGACAACTCCAGGTGAAAGAGGGAC AACTCCAGGTGAAGGGGGGGCAACTCCAGGTGAAGGGGGGGGCAACTCCA GGTGAAGGAGGGCAACTCCAGGTGAAGGTAGGGGACAACTCCAGGTGAA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01981.hp2 HG02148.hp1 others(1): Show HG01928.hp1 HG01981.hp2 HG02148.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0184 a0001c0001t0002g0177 a0001c0001t0005g0175 others(1): Show a0001c0001t0001g0184 a0001c0001t0002g0177 a0001c0001t0005g0175 a0001c0001t0009g0178	4	322	0.0124	-298	c.201 others(19): Show c.201-11319_201-11022del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar

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Search Results (Total: 10000 hits)