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
PKP3_chr11_389209_409908	401591	CACACCCG others(187): Show CACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCC GGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGACCCCGCTCACCCCCGA CCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	216	0.0046	-194	c.173 others(18): Show c.1737+889_1737+1082del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402063	CGGCTCCA others(187): Show CGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGA CCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCC CGACCCCGCTCACCCCAGACCCCCGGCCCCGCTCACCCCCGGCTCCACTG ACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG06807.hp2 NA20752.hp2 HG02622.hp2 HG06807.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0001 a0001c0021t0001 a0001c0001t0001 a0001c0021t0001	a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0021t0001g0086 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0021t0001g0086	3	216	0.0139	-194	c.173 others(18): Show c.1738-1013_1738-820del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHG4B_chr5_87168_194966	165109	CGGGGCGG others(187): Show CGGGGCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCACACTAA TGCTCTGACGGGGCGGGGCTCACAGTACTCCTCTGACGGGGCGGAGCTCA CACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGG GGCTCACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTG	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0123 a0004c0006t0123	a0004c0006t0123g0003 a0004c0006t0123g0003	1	210	0.0048	-194	c.347 others(19): Show c.3476+1562_3476+1755del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PRDM16_chr1_3064203_3443621	3287461	CTGCCACG others(187): Show CTGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCG CCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCCTGC CACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCTGCCCCTGCCA TGCGGGCATCGAGGATTGCATTTACCGGGGCTGGAGCCGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0152 a0001c0002t0005g0152	1	210	0.0048	-194	c.438 others(19): Show c.438+43325_438+43518del	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16			chr1	TogoVar
RAN_chr12_130867066_130882678	130882484	CTCACCTC others(187): Show CTCACCTCTAGGTACTCCTGAGAACTCCTCCTCCGTCTGTGGATCTGCGT GGTCTCCATCACTGATCTCACCTCTAGGTACTCCCGAGAGTGCCTCCTCC ATCACCACAGATCCGCGTAGCCTGCATCACTGATCTCACCTCTAGGTACT CCTGAGAACTCCTCCTCTGTCTGTGGATCTGCGTGGTCTCCATCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0012 a0001c0001t0009g0012	1	426	0.0024	-194	c.65 others(11): Show c.6559_*6752del	RAN	ENSG00000132341.12	transcript	ENST00000543796.6	protein_coding		4807		chr12	TogoVar
RHOT1_chr17_32137502_32230727	32178736	GGTGAGGA others(187): Show GGTGAGGAGCGCCTCTGCCTGGCTGCCCCGTCTGGGAAGTGAGGAGAGCC TCTGCCCGGCTGCCACCCCGTCTAGGAAGTGAGGAGCATCTCTGCCTGGC CACCCCGTCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCACCCCATCT GGGAAGTGAGGAGTGCCTCTGCCCGGCCGCCACCCTGTCTGGGAT	G G	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	284	0.0035	-194	c.329 others(17): Show c.329+2542_329+2735del	RHOT1	ENSG00000126858.19	transcript	ENST00000545287.7	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
SARDH_chr9_133658560_133743352	133668853	CACCCTCC others(187): Show CACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTC ACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCAC CTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCC TCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0013 a0002c0010t0002g0013	1	262	0.0038	-194	c.249 others(19): Show c.2495+1537_2495+1730del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668938	CTCCCTCT others(187): Show CTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCT CCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTC CCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCC CTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0001 a0003c0028t0001	a0003c0028t0001g0110 a0003c0028t0001g0110	1	262	0.0038	-194	c.249 others(19): Show c.2495+1452_2495+1645del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668986	CTCCATCT others(187): Show CTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCT TCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCT CCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCC CTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0120 a0002c0015t0001g0120	1	262	0.0038	-194	c.249 others(19): Show c.2495+1404_2495+1597del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SIGIRR_chr11_400716_419999	401591	CACACCCG others(187): Show CACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCC GGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGACCCCGCTCACCCCCGA CCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0018 a0002c0002t0001g0019	2	242	0.0083	-194	c.41 others(11): Show c.4111_*4304del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4124		chr11	TogoVar
SIGIRR_chr11_400716_419999	402063	CGGCTCCA others(187): Show CGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGA CCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCC CGACCCCGCTCACCCCAGACCCCCGGCCCCGCTCACCCCCGGCTCCACTG ACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA20752.hp1 HG06807.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0222 a0001c0001t0001g0114 a0001c0001t0001g0222	2	242	0.0083	-194	c.36 others(11): Show c.3639_*3832del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3652		chr11	TogoVar
SKI_chr1_2223319_2315213	2281165	AGGACGCC others(187): Show AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0297 a0001c0001t0058g0297	1	330	0.0030	-194	c.970 others(19): Show c.970-21810_970-21617del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC22A24_chr11_63074940_63149221	63113029	AAAAAAAA others(187): Show AAAAAAAATATATATATATATATATACATATATATATATACATATATATA CACATATATATACATATATATATACATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATACA TATATATATACACATATATATATACATATATATACACATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02004.hp2 HG03017.hp1 others(1): Show HG00639.hp2 HG02004.hp2 HG03017.hp1 HG03239.hp2	a0009 a0016 a0009 a0016	a0009c0012 a0016c0026 a0009c0012 a0016c0026	a0009c0012t0001 a0016c0026t0001 a0009c0012t0001 a0016c0026t0001	a0009c0012t0001g0353 a0009c0012t0001g0354 a0009c0012t0001g0356 others(1): Show a0009c0012t0001g0353 a0009c0012t0001g0354 a0009c0012t0001g0356 a0016c0026t0001g0355	4	366	0.0109	-194	c.830 others(17): Show c.830+5689_830+5882del	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SLC66A2_chr18_79897420_79956653	79921648	GACAGGAA others(187): Show GACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAG TGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGG AGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01884.hp1 HG02080.hp2 others(3): Show HG00438.hp1 HG01884.hp1 HG02080.hp2 HG03195.hp2 HG03491.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0179 a0001c0001t0005g0148 a0001c0001t0009g0177 others(3): Show a0001c0001t0001g0179 a0001c0001t0005g0148 a0001c0001t0009g0177 a0001c0001t0009g0182 a0001c0001t0009g0264 a0001c0001t0009g0265	6	352	0.0171	-194	c.392 others(17): Show c.392-2442_392-2249del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47853242	ATGGCCGT others(187): Show ATGGCCGTAGTATACCCCTGGTCGTGTAGCAGTGAAAGTGGTTTGGTTTA GACGTCCGGGAATTGCATCTGTTTTTAAGCCTAATGTGGGGACAGCTCAT GAGTGTAAGACGTCTTGTGATGTAATTATTATACGAATGGGGGCTTCAAC CGGGAGTACTACTCGATTGTCAAAGTCAAGGAGTCGCAGGTCGCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(205): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18997.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(169): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0196 a0001c0001t0197 a0001c0001t0200 a0001c0001t0201 a0001c0001t0202 a0001c0001t0203 a0001c0001t0204 a0001c0001t0205 a0001c0001t0206 a0001c0001t0207 a0001c0001t0208 a0001c0001t0209 a0001c0001t0210 a0001c0001t0211 a0001c0001t0212 a0001c0001t0213 a0001c0001t0214 a0001c0001t0215 a0001c0001t0216 a0001c0001t0217 a0001c0001t0218 a0001c0001t0219 a0001c0001t0220 a0001c0001t0221 a0001c0001t0222 a0001c0001t0223 a0001c0001t0224 a0001c0001t0225 a0001c0001t0226 a0001c0001t0227 a0001c0001t0228 a0001c0001t0229 a0001c0001t0230 a0001c0001t0231 a0001c0001t0232 a0001c0001t0233 a0001c0001t0234 a0001c0001t0235 a0001c0001t0236 a0001c0001t0237 a0001c0001t0238 a0001c0001t0239 a0001c0001t0240 a0001c0001t0241 a0001c0001t0242 a0001c0001t0243 a0001c0001t0244 a0001c0001t0245 a0001c0001t0246 a0001c0001t0255 a0001c0001t0257 a0001c0002t0247 a0001c0002t0248 a0001c0002t0249 a0001c0002t0250 a0001c0002t0251 a0001c0002t0252 a0001c0002t0253 a0001c0002t0254	a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0206 others(205): Show a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0003g0140 a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0003g0170 a0001c0001t0004g0125 a0001c0001t0004g0130 a0001c0001t0004g0150 a0001c0001t0004g0156 a0001c0001t0005g0260 a0001c0001t0005g0278 a0001c0001t0005g0282 a0001c0001t0006g0219 a0001c0001t0006g0224 a0001c0001t0006g0237 a0001c0001t0010g0124 a0001c0001t0010g0145 a0001c0001t0010g0162 a0001c0001t0011g0223 a0001c0001t0011g0230 a0001c0001t0012g0239 a0001c0001t0012g0243 a0001c0001t0013g0177 a0001c0001t0013g0286 a0001c0001t0014g0115 a0001c0001t0014g0276 a0001c0001t0015g0216 a0001c0001t0015g0218 a0001c0001t0016g0112 a0001c0001t0016g0209 a0001c0001t0017g0208 a0001c0001t0017g0265 a0001c0001t0018g0204 a0001c0001t0018g0207 a0001c0001t0019g0183 a0001c0001t0019g0187 a0001c0001t0020g0191 a0001c0001t0020g0192 a0001c0001t0026g0110 a0001c0001t0026g0111 a0001c0001t0027g0132 a0001c0001t0027g0148 a0001c0001t0028g0138 a0001c0001t0028g0164 a0001c0001t0029g0133 a0001c0001t0029g0161 a0001c0001t0030g0134 a0001c0001t0030g0135 a0001c0001t0031g0002 a0001c0001t0033g0262 a0001c0001t0034g0258 a0001c0001t0042g0254 a0001c0001t0043g0255 a0001c0001t0044g0256 a0001c0001t0045g0250 a0001c0001t0046g0196 a0001c0001t0047g0222 a0001c0001t0048g0182 a0001c0001t0049g0186 a0001c0001t0050g0213 a0001c0001t0051g0290 a0001c0001t0052g0277 a0001c0001t0054g0274 a0001c0001t0055g0275 a0001c0001t0056g0242 a0001c0001t0057g0246 a0001c0001t0058g0240 a0001c0001t0059g0264 a0001c0001t0060g0238 a0001c0001t0061g0268 a0001c0001t0062g0234 a0001c0001t0063g0249 a0001c0001t0064g0285 a0001c0001t0065g0197 a0001c0001t0066g0199 a0001c0001t0067g0280 a0001c0001t0068g0261 a0001c0001t0069g0298 a0001c0001t0070g0202 a0001c0001t0071g0273 a0001c0001t0072g0259 a0001c0001t0073g0293 a0001c0001t0074g0200 a0001c0001t0075g0288 a0001c0001t0076g0289 a0001c0001t0077g0253 a0001c0001t0078g0272 a0001c0001t0079g0247 a0001c0001t0080g0287 a0001c0001t0081g0291 a0001c0001t0082g0296 a0001c0001t0083g0178 a0001c0001t0084g0270 a0001c0001t0085g0241 a0001c0001t0086g0116 a0001c0001t0087g0214 a0001c0001t0088g0232 a0001c0001t0089g0228 a0001c0001t0090g0248 a0001c0001t0091g0210 a0001c0001t0092g0284 a0001c0001t0093g0235 a0001c0001t0094g0004 a0001c0001t0095g0176 a0001c0001t0096g0229 a0001c0001t0097g0185 a0001c0001t0098g0181 a0001c0001t0099g0221 a0001c0001t0100g0299 a0001c0001t0101g0194 a0001c0001t0102g0193 a0001c0001t0103g0227 a0001c0001t0104g0215 a0001c0001t0105g0302 a0001c0001t0106g0225 a0001c0001t0107g0236 a0001c0001t0108g0217 a0001c0001t0109g0226 a0001c0001t0110g0231 a0001c0001t0111g0205 a0001c0001t0112g0179 a0001c0001t0113g0184 a0001c0001t0114g0180 a0001c0001t0115g0188 a0001c0001t0116g0245 a0001c0001t0117g0281 a0001c0001t0118g0203 a0001c0001t0119g0297 a0001c0001t0120g0189 a0001c0001t0121g0292 a0001c0001t0122g0251 a0001c0001t0123g0252 a0001c0001t0124g0201 a0001c0001t0125g0283 a0001c0001t0126g0279 a0001c0001t0127g0271 a0001c0001t0129g0190 a0001c0001t0130g0244 a0001c0001t0131g0212 a0001c0001t0132g0211 a0001c0001t0196g0006 a0001c0001t0197g0005 a0001c0001t0200g0175 a0001c0001t0201g0174 a0001c0001t0202g0220 a0001c0001t0203g0233 a0001c0001t0204g0295 a0001c0001t0205g0120 a0001c0001t0206g0117 a0001c0001t0207g0118 a0001c0001t0208g0119 a0001c0001t0209g0121 a0001c0001t0210g0294 a0001c0001t0211g0008 a0001c0001t0212g0167 a0001c0001t0213g0128 a0001c0001t0214g0123 a0001c0001t0215g0144 a0001c0001t0216g0157 a0001c0001t0217g0131 a0001c0001t0218g0171 a0001c0001t0219g0139 a0001c0001t0220g0151 a0001c0001t0221g0127 a0001c0001t0222g0169 a0001c0001t0223g0155 a0001c0001t0224g0141 a0001c0001t0225g0152 a0001c0001t0226g0154 a0001c0001t0227g0166 a0001c0001t0228g0158 a0001c0001t0229g0136 a0001c0001t0230g0153 a0001c0001t0231g0147 a0001c0001t0232g0129 a0001c0001t0233g0168 a0001c0001t0234g0172 a0001c0001t0235g0173 a0001c0001t0236g0159 a0001c0001t0237g0143 a0001c0001t0238g0165 a0001c0001t0239g0142 a0001c0001t0240g0163 a0001c0001t0241g0137 a0001c0001t0242g0160 a0001c0001t0243g0011 a0001c0001t0244g0122 a0001c0001t0245g0007 a0001c0001t0246g0126 a0001c0001t0255g0096 a0001c0001t0257g0309 a0001c0002t0247g0014 a0001c0002t0248g0303 a0001c0002t0249g0306 a0001c0002t0250g0304 a0001c0002t0251g0305 a0001c0002t0252g0017 a0001c0002t0253g0015 a0001c0002t0254g0016	208	310	0.6710	-194	c.731 others(17): Show c.731-2109_731-1916del	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	6/10			chr18	TogoVar
SNW1_chr14_77712599_77766156	77762317	TAAAAATA others(187): Show TAAAAATAAATAAATAAATAAATAAATAAATAATATAAAAGAATAGCTGG GTGTGGTGATGTGCTCTTGTTTTCTCAGCTACTTGGGAGGCTGAGGTACA AGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCAC CATTGCACTCCAGCGTGGGTGACAAAGTAAAATTCTGTCTCAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0050	1	366	0.0027	-194	c.-13 others(11): Show c.-1384_-1191del	SNW1	ENSG00000100603.14	transcript	ENST00000261531.12	protein_coding		1162		chr14	TogoVar
THADA_chr2_43225851_43601038	43515172	TATATATT others(187): Show TATATATTATATATAATATATTATATATAATATATAATATATAATATATT ATATATAATATATAATATATAATATATTATATATAATATATAATATATAA TATATAATATATTATATATAATATATAATATGTAATATATAATATTTTAT ATATAATATATAATATAATATATAATATTTTATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0028 a0004c0005t0001g0028	1	206	0.0049	-194	c.337 others(19): Show c.3375-6586_3375-6393del	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37			chr2	TogoVar
TMCO3_chr13_113486021_113555229	113506184	CCTGTTAC others(187): Show CCTGTTACGGGTGGGGAGGGTAAGGGGGCGTGGGCCACGTGGCTGCCTGG CCTGTGGAGGAAGGAGCCTGTTATGGGTGGGGAGGGTAAGGGGGAGTGGG CCGCGTGCTGCCTGGCCTGTGGAGGAAGAGGCTGTTATGGGTGGGGAGGG TAAGGGGGTGTCAGCCAGTGGCTGCCTGGCCTGTGGAGGAAGAAG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp2 others(73): Show HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG02109.hp2 HG02132.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18940.hp1 NA18946.hp2 NA18947.hp2 NA18953.hp1 NA18955.hp1 NA18966.hp1 NA18975.hp2 NA18983.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19060.hp1 NA19064.hp1 NA19075.hp2 NA19080.hp2 NA19085.hp1 NA19240.hp2 NA20300.hp1	a0003 a0005 a0007 others(1): Show a0003 a0005 a0007 a0010	a0003c0002 a0003c0023 a0005c0010 others(2): Show a0003c0002 a0003c0023 a0005c0010 a0007c0021 a0010c0015	a0003c0002t0002 a0003c0023t0002 a0005c0010t0002 others(2): Show a0003c0002t0002 a0003c0023t0002 a0005c0010t0002 a0007c0021t0002 a0010c0015t0002	a0003c0002t0002g0006 a0003c0002t0002g0008 a0003c0002t0002g0009 others(68): Show a0003c0002t0002g0006 a0003c0002t0002g0008 a0003c0002t0002g0009 a0003c0002t0002g0010 a0003c0002t0002g0022 a0003c0002t0002g0024 a0003c0002t0002g0025 a0003c0002t0002g0026 a0003c0002t0002g0027 a0003c0002t0002g0028 a0003c0002t0002g0029 a0003c0002t0002g0030 a0003c0002t0002g0031 a0003c0002t0002g0032 a0003c0002t0002g0033 a0003c0002t0002g0034 a0003c0002t0002g0035 a0003c0002t0002g0036 a0003c0002t0002g0037 a0003c0002t0002g0038 a0003c0002t0002g0039 a0003c0002t0002g0040 a0003c0002t0002g0041 a0003c0002t0002g0042 a0003c0002t0002g0043 a0003c0002t0002g0044 a0003c0002t0002g0045 a0003c0002t0002g0046 a0003c0002t0002g0047 a0003c0002t0002g0048 a0003c0002t0002g0049 a0003c0002t0002g0051 a0003c0002t0002g0052 a0003c0002t0002g0055 a0003c0002t0002g0056 a0003c0002t0002g0057 a0003c0002t0002g0058 a0003c0002t0002g0059 a0003c0002t0002g0060 a0003c0002t0002g0061 a0003c0002t0002g0062 a0003c0002t0002g0063 a0003c0002t0002g0064 a0003c0002t0002g0065 a0003c0002t0002g0066 a0003c0002t0002g0067 a0003c0002t0002g0068 a0003c0002t0002g0069 a0003c0002t0002g0070 a0003c0002t0002g0072 a0003c0002t0002g0073 a0003c0002t0002g0074 a0003c0002t0002g0076 a0003c0002t0002g0077 a0003c0002t0002g0078 a0003c0002t0002g0079 a0003c0002t0002g0080 a0003c0002t0002g0081 a0003c0002t0002g0082 a0003c0002t0002g0083 a0003c0002t0002g0084 a0003c0002t0002g0085 a0003c0002t0002g0086 a0003c0002t0002g0087 a0003c0002t0002g0301 a0003c0002t0002g0302 a0003c0023t0002g0023 a0005c0010t0002g0050 a0005c0010t0002g0053 a0007c0021t0002g0054 a0010c0015t0002g0071	76	368	0.2065	-194	c.103 others(19): Show c.1038+2603_1038+2796del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TRAPPC9_chr8_139722725_140462744	139757174	TAGGGATG others(187): Show TAGGGATGAGGACAGCAGGGTGCAGGAGGAGCCAGGGTTGGGGATGAGGA CAGCATGTCGCAGGAGGAGCCAGGGATGGGGTATAAGGACAGCAGGTTGC AGGAGGAGCCAGGGTTTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCA GGGATTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGCGTTG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0082 a0001c0001t0025g0082	1	98	0.0102	-194	c.305 others(21): Show c.3056-25166_3056-24973del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TRIML1_chr4_188134441_188152743	188152372	GAGAGTGG others(187): Show GAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTG AGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGA GAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGA GTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	228	0.0044	-194	c.50 others(11): Show c.5001_*5194del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4630		chr4	TogoVar
UBE4A_chr11_118354600_118404211	118355269	ATGCATAT others(187): Show ATGCATATATGCATATATACATATATGCATATATACACATATATACATAT ATACACATATACATATATGCATATATACACATATATACACATATACATAT ATGCATATATACACATATATACATATATACACATATACATATATGTATAT ATACACATATACGTATATGTGTATATATACACATATACGTATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0047 a0001c0001t0021g0047	1	320	0.0031	-194	c.-44 others(11): Show c.-4446_-4253del	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		4330		chr11	TogoVar
VPS53_chr17_503668_719839	552889	GGGCAGGC others(187): Show GGGCAGGCAGCGAGCAAGTGTGTACAAGGTATATACGTGCCGCACGCTGC TGTGTAGTGGAGAAAGGGCAGGCAGTGAGCAAGCGTGTACAAGGTATATA CGTGCCGCACGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGTGAGCAAGCG TGTACAAGGTATATACGTGCCACATGCTGCTGTGTAGTGGAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0129 a0006c0012t0129	a0006c0012t0129g0140 a0006c0012t0129g0140	1	232	0.0043	-194	c.178 others(17): Show c.1787+297_1787+490del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	16/21			chr17	TogoVar
ZDHHC11B_chr5_705355_789729	710576	TGCTCCCA others(187): Show TGCTCCCATTTCACAGTACTGTGTGCTCCCATTTCTCAGTACTGGGCTCC CATTTCCCAGTACTGTGCTCCCATTTCTCAGTACTGTGCTCCCATTTCCC AGCACTATGCTCCCATTTCCCAGGACTGTGAGCTTCCATTTCCCAGTACT GTGCTCCCATTTCCCAATGCTATGCTCCATTTCCCAGTGCTGTGA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0051 a0005c0018t0051	a0005c0018t0051g0164 a0005c0018t0051g0164	1	271	0.0037	-194	c.15 others(11): Show c.1520_*1713del	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	14/14	6038		chr5	TogoVar
ZFPM1_chr16_88448280_88542031	88461015	TGGGGCGG others(187): Show TGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGA CCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGA GGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGAC CTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCCA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp1 HG02258.hp1 NA19043.hp1	a0002 a0008 a0002 a0008	a0002c0023 a0008c0061 a0002c0023 a0008c0061	a0002c0023t0043 a0008c0061t0038 a0002c0023t0043 a0008c0061t0038	a0002c0023t0043g0134 a0008c0061t0038g0133 a0002c0023t0043g0134 a0008c0061t0038g0133	2	318	0.0063	-194	c.40+ others(15): Show c.40+7362_40+7555del	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1824980	CCCACCTG others(186): Show CCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTC CCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCTCACCTGTCCCCC CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG04184.hp2 HG00738.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0016 a0001c0003 a0001c0016	a0001c0003t0001 a0001c0016t0002 a0001c0003t0001 a0001c0016t0002	a0001c0003t0001g0183 a0001c0016t0002g0184 a0001c0003t0001g0183 a0001c0016t0002g0184	2	363	0.0055	-193	c.-48 others(16): Show c.-48+878_-48+1070del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
CACNA1H_chr16_1148106_1226768	1199053	CGCAGTCG others(186): Show CGCAGTCGCTGCACATATGCCCCACCCCCCACCATGGCTCTGCCCACCAC GCAGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGC GGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCACCCACCGTGCGG TCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp1 HG02647.hp2 others(3): Show HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG03540.hp1 NA19030.hp2	a0002 a0010 a0060 a0002 a0010 a0060	a0002c0063 a0010c0024 a0010c0062 others(2): Show a0002c0063 a0010c0024 a0010c0062 a0010c0131 a0060c0061	a0002c0063t0001 a0010c0024t0001 a0010c0024t0002 others(3): Show a0002c0063t0001 a0010c0024t0001 a0010c0024t0002 a0010c0062t0001 a0010c0131t0002 a0060c0061t0002	a0002c0063t0001g0287 a0010c0024t0001g0300 a0010c0024t0002g0334 others(3): Show a0002c0063t0001g0287 a0010c0024t0001g0300 a0010c0024t0002g0334 a0010c0062t0001g0075 a0010c0131t0002g0331 a0060c0061t0002g0330	6	338	0.0178	-193	c.803 others(15): Show c.803+319_803+511del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199101	ACGCAGTC others(186): Show ACGCAGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGT GCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCACCCACCGTGC GGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCAG TCGCTGCACATATGCCCCACCCCCCACCATGGCTCCGCCCACCG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0185 a0002c0008t0001g0185	1	338	0.0030	-193	c.803 others(15): Show c.803+416_803+608del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCL17_chr16_57399767_57421063	57403223	ATTATCTA others(186): Show ATTATCTATAATATATATAATATATATTATTATCTATAATATATATAATA TATATTATTATCTATAATATATATAATATATATTATTATCTATAATATAT ATAATATATATTATTATCTATAATATATATAATATATATATTATAATATA TATAACATATATTATATATAATATATATATTATAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	388	0.0026	-193	c.-16 others(11): Show c.-1672_-1480del	CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding		1543		chr16	TogoVar
CD99_chrX_2686295_2746309	2690644	TAGGGGCG others(186): Show TAGGGGCGGAGAAGGGGCTGCAGGGGCGAGTGGGGAGGGGGGCTACACGT TTCCAAGAAGGGCGGCAGTTTCGTGTCGCTACAGTTGCAGGCGTGCATTT AGGAGGCTGTAGACAGGGAGGGACCCGCACTTTCCCGAGCAGGGGAGCTG CTGGGAAAGTTTGTTTTTTTGCTCCCACTGGAGACCAGGGGGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG00733.hp2 others(24): Show HG00544.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG01081.hp1 HG01081.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02976.hp2 HG03041.hp2 HG03239.hp2 HG04184.hp2 HG06807.hp1 NA18906.hp2 NA18989.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0007 a0004c0015	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0002c0007t0001 a0004c0015t0007	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0026 others(24): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0133 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0005g0093 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0002g0025 a0001c0004t0002g0035 a0001c0004t0002g0082 a0002c0007t0001g0022 a0004c0015t0007g0018	27	228	0.1184	-193	c.-71 others(9): Show c.-716_-524del	CD99	ENSG00000002586.20	transcript	ENST00000381192.10	protein_coding		650		chrX	TogoVar
CD99_chrX_2686295_2746309	2690658	GGGCTGCA others(186): Show GGGCTGCAGGGGCGAGTGGGGAGGGGGGCTACACGTTTCCAAGAAGGGCG GCAGTTTCGTGTCGCTACAGTTGCAGGCGTGCATTTAGGAGGCTGTAGAC AGGGAGGGACCCGCACTTTCCCGAGCAGGGGAGCTGCTGGGAAAGTTTGT TTTTTTGCTCCCACTGGAGACCAGGGGGTGAGGGGCGGAGAAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01891.hp2 HG02723.hp1 others(7): Show HG01123.hp1 HG01891.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG03486.hp1 HG03669.hp2 HG04184.hp1 NA18906.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0008 a0001c0001 a0002c0003 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0003c0008t0004	a0001c0001t0001g0100 a0001c0001t0001g0216 a0001c0001t0002g0098 others(7): Show a0001c0001t0001g0100 a0001c0001t0001g0216 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0002c0003t0001g0099 a0003c0008t0004g0071 a0003c0008t0004g0087 a0003c0008t0004g0088 a0003c0008t0004g0089	10	228	0.0439	-193	c.-70 others(9): Show c.-702_-510del	CD99	ENSG00000002586.20	transcript	ENST00000381192.10	protein_coding		636		chrX	TogoVar
CDH4_chr20_61247261_61945617	61641627	CCCACCAG others(186): Show CCCACCAGGCACCACAGCACCCAGGACACCTACAGCTTTGGGATCAGATG GGGCTGCCTGACCCACCAGGCACCACAGCACCCAGGACACCTACAGCTTT GGGATCAGACGGGGCTGCCTGACCCACCAGGCTCCACAGCACCCAGGACA CCTACAGCTTTGGGATCAGACGGGGCTGCCTGACCCACCAGGCA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0105 a0002c0002t0022g0105	1	106	0.0094	-193	c.170 others(21): Show c.170-101655_170-101463del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CEP72_chr5_607340_658553	631676	GGGATTTA others(186): Show GGGATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCTGGATTTGACCC AGTCCTGGTGGGGTGCTGTCCAGTGCCGGGATTTAGACCAGTCCTGGTGG GGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCA GTGCCGGGATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp2 NA20129.hp1 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0005 a0003c0003 a0003c0005	a0003c0003t0002 a0003c0005t0002 a0003c0003t0002 a0003c0005t0002	a0003c0003t0002g0020 a0003c0005t0002g0019 a0003c0003t0002g0020 a0003c0005t0002g0019	2	91	0.0220	-193	c.513 others(17): Show c.513-2086_513-1894del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
COP1_chr1_175939831_176212286	176132615	CTATATAT others(186): Show CTATATATACACACATATACACATATGTACGTATATATACTATATATACA CACATATACACATATGTACGTATATATACTATATATACACACATATACAC ATATGTACGTATATATACTATATATACACACATATACACATATGTACGTA TATATACTATATATACACACATATACACATATGTACGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01192.hp2 HG01884.hp2 others(23): Show HG01074.hp1 HG01192.hp2 HG01884.hp2 HG02258.hp2 HG02559.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03139.hp1 HG03225.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG06807.hp1 NA18747.hp1 NA18995.hp1 NA19030.hp2 NA19064.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0001t0001 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0061 a0001c0002t0002g0003 a0001c0002t0002g0004 others(23): Show a0001c0001t0001g0061 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0008g0026	26	300	0.0867	-193	c.968 others(17): Show c.968+2202_968+2394del	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
CPNE7_chr16_89570758_89602246	89587807	GCCCCCCG others(186): Show GCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTTA CCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGT TACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0329 a0001c0002t0002g0329	1	348	0.0029	-193	c.927 others(15): Show c.927+711_928-670del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRTAC1_chr10_97860000_98035621	97900865	GCCCCTTT others(186): Show GCCCCTTTTCCTGGTAGTGATTGGAGCCCGTAGCCCCTTTCTGTGGTAGT GATTGGACCCTGTAGCCCCTTTTCCTGGTAGTGATTGGAGCCCGTAGCCC CTTTTCCTGGTAGTGATTGGACCCTGTAGCCCCTTTTCCTGGTAGTGATT GGAGCCCGTAGCCCCTTTTCCTGGTAGTGATTGGACCCCGTAGC	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	204	0.0049	-193	c.113 others(17): Show c.1133+445_1133+637del	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CYP4F12_chr19_15668087_15702174	15673299	TCTAATCG others(186): Show TCTAATCGGCCCATCTCTTTCCCTTTCTGTGTGGTTACCAGGTTACTGGA GGCCACTTAGTTGTTGGTTTTGGTTGGGACTTTCTGGACTTCAGATCTCA GCCCTCGTTTACTCACCCCTGAGCCCTCCCTGCCCTGCCCCCAGCAGTTC CTGACTTCGCCCCTATACACTGTCCCCGGAGCTCTTCCCTGGGC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0204 a0013c0015t0001g0204	1	410	0.0024	-193	c.-2+ others(12): Show c.-2+167_-1-35del	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAGLB_chr7_6404129_6452954	6421309	AGGCAGCG others(186): Show AGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG GCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCG GGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAG CGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp2 HG02293.hp2 others(4): Show HG01952.hp1 HG01952.hp2 HG02293.hp2 HG03491.hp2 NA18968.hp1 NA18981.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0099 a0001c0002t0002g0113 others(4): Show a0001c0002t0002g0095 a0001c0002t0002g0099 a0001c0002t0002g0113 a0001c0002t0002g0124 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0131	7	380	0.0184	-193	c.121 others(17): Show c.1218+225_1218+417del	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DDC_chr7_50453442_50570405	50460271	GGGAGGTG others(186): Show GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAAGGAGGTGGGAGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGAAGGTGGGGGGGTCAGC CCCCTGCCCGGCCAGCCGCCCCGTCCGGCCAGCCACCCGGTCCA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	360	0.0028	-193	c.19 others(17): Show c.19-1621_*19-1429del	DDC	ENSG00000132437.18	transcript	ENST00000444124.7	protein_coding	14/14			chr7	TogoVar
DLGAP2_chr8_732628_1713476	1180932	ACACTTAC others(186): Show ACACTTACTGTCGAGTGTGGGTGGCTGTGCAAGGGCAGTACACTTACTGT CGAGTGTGGGTGGCTGTGCAAGGGCAGTACACTTACTGTCGAGTGTGGGT GGCTGTGCAAGGGCAGTACACTTACTGTCGAGTGTGGGTGGCTGTGCAAG GGCAGTCACTTACTGTCGAGTGTGGGTGGCTGTGCAAGGGCAGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp2 HG01361.hp1 others(5): Show HG00639.hp1 HG01071.hp2 HG01361.hp1 HG01891.hp1 HG02071.hp1 HG02074.hp1 HG02698.hp2 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004	a0001c0002t0001 a0001c0003t0024 a0002c0001t0001 others(5): Show a0001c0002t0001 a0001c0003t0024 a0002c0001t0001 a0002c0001t0003 a0002c0001t0011 a0002c0001t0020 a0002c0004t0018 a0002c0004t0026	a0001c0002t0001g0019 a0001c0003t0024g0003 a0002c0001t0001g0018 others(5): Show a0001c0002t0001g0019 a0001c0003t0024g0003 a0002c0001t0001g0018 a0002c0001t0003g0022 a0002c0001t0011g0001 a0002c0001t0020g0024 a0002c0004t0018g0010 a0002c0004t0026g0016	8	40	0.2000	-193	c.74- others(17): Show c.74-77777_74-77585del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DYM_chr18_49031387_49465645	49440985	ATAATATA others(186): Show ATAATATATAATATATTTATATATTATATATTATATATATTTATATATAA TATATAAATATATAATATATTTATATATATTATATATAAATATTATATTA TATATTATATATAAATATATATTAATATAAATATATTATATATTTATATA AATATATTATATAATATAATATATATTATATATTATATAATTAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00621.hp1 others(56): Show HG00323.hp1 HG00597.hp2 HG00621.hp1 HG00741.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01346.hp2 HG01433.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02300.hp2 HG02523.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 NA18747.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp2 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19012.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0010 a0001c0001 a0001c0004 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0032 a0001c0001t0034 a0001c0004t0001 a0002c0010t0023	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 others(56): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0034 a0001c0001t0002g0056 a0001c0001t0003g0026 a0001c0001t0003g0053 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0008g0014 a0001c0001t0008g0016 a0001c0001t0008g0019 a0001c0001t0008g0033 a0001c0001t0014g0036 a0001c0001t0014g0063 a0001c0001t0015g0015 a0001c0001t0015g0018 a0001c0001t0032g0013 a0001c0001t0034g0055 a0001c0004t0001g0035 a0002c0010t0023g0009	59	290	0.2035	-193	c.-53 others(19): Show c.-53-10731_-53-10539del	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
ERICH1_chr8_659200_736224	676255	TGAGGACA others(186): Show TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01256.hp2 others(3): Show HG00323.hp2 HG00639.hp1 HG01256.hp2 HG01515.hp2 HG02818.hp1 HG03834.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0016 a0001c0001 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0008c0016t0002 a0001c0001t0001 a0001c0001t0002 a0008c0016t0002	a0001c0001t0001g0038 a0001c0001t0002g0249 a0001c0001t0002g0255 others(3): Show a0001c0001t0001g0038 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0297 a0008c0016t0002g0326	6	378	0.0159	-193	c.305 others(17): Show c.305-2401_305-2209del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ESYT2_chr7_158725997_158834509	158729265	GGGGGGAG others(186): Show GGGGGGAGGAGCAGGTGTGGAGATAGTGGGGGAAGAGCAAGCGTGGAGGT GTTGGGAGAAGCAAGTGTGGATGTGCAAGCGTGGAGGTGGGGGGCTTGGC GCAAGCGTGGAGGTGCTGGGGGGAGGAGCAAGGTGGAGGTTGGGACTGGA GCAAATGTGGAGGTGCTGGGGGGAGGAGCAGGTGTGGAGATAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02280.hp1 others(5): Show HG02055.hp2 HG02109.hp1 HG02280.hp1 HG02647.hp1 HG02818.hp1 HG03098.hp1 HG03209.hp2 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0002 a0002c0010t0002 a0002c0010t0041 a0002c0002t0002 a0002c0010t0002 a0002c0010t0041	a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 others(5): Show a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0010t0002g0232 a0002c0010t0002g0233 a0002c0010t0041g0228	8	370	0.0216	-193	c.47 others(11): Show c.4749_*4941del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1731		chr7	TogoVar
GZMA_chr5_55097646_55115252	55105987	TAAAATAA others(186): Show TAAAATAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(106): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01515.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02273.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02896.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18948.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18964.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19006.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0007 a0006c0009 a0007c0008	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0007t0001 a0006c0009t0001 a0007c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0022 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0002t0001g0036 a0002c0003t0001g0001 a0002c0007t0001g0001 a0006c0009t0001g0001 a0007c0008t0001g0001	109	390	0.2795	-193	c.215 others(15): Show c.215+378_215+570del	GZMA	ENSG00000145649.8	transcript	ENST00000274306.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
GZMA_chr5_55097646_55115252	55106064	ATAAAATA others(186): Show ATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	390	0.0026	-193	c.215 others(15): Show c.215+447_215+639del	GZMA	ENSG00000145649.8	transcript	ENST00000274306.7	protein_coding	2/4			chr5	TogoVar
HDAC4_chr2_239043168_239406020	239085902	CTCCCTGT others(186): Show CTCCCTGTACACGAAGGAGACTCTGCTCTAACACGCGGATCTGACTATCT CGCACGTACAGTCTCTTCCCTGTACACGAAGGAGACTCTGCTCTAACACG CGGATCTGACTATCTCTCACGTACAGTCTCCTCCCTGCACATGAAGGAGA CTCTGCTCTAACACGCGGATCTGACTATCTCGCACGTAGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00609.hp2 others(63): Show HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG03041.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18946.hp2 NA18950.hp1 NA18954.hp1 NA18961.hp1 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19056.hp1 NA19090.hp2 NA19240.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0022 a0001c0024 a0001c0032 a0001c0036 a0002c0017 a0004c0014 a0007c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0049 a0001c0002t0001 a0001c0002t0015 a0001c0002t0023 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0004t0062 a0001c0004t0068 a0001c0004t0071 a0001c0004t0073 a0001c0005t0001 a0001c0005t0007 a0001c0005t0064 a0001c0006t0045 a0001c0007t0003 a0001c0008t0001 a0001c0008t0023 a0001c0010t0003 a0001c0022t0070 a0001c0024t0069 a0001c0032t0001 a0001c0036t0072 a0002c0017t0013 a0004c0014t0002 a0007c0031t0001	a0001c0001t0001g0057 a0001c0001t0001g0121 a0001c0001t0001g0138 others(63): Show a0001c0001t0001g0057 a0001c0001t0001g0121 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0002g0112 a0001c0001t0002g0160 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0003g0031 a0001c0001t0003g0041 a0001c0001t0005g0082 a0001c0001t0005g0099 a0001c0001t0005g0161 a0001c0001t0006g0116 a0001c0001t0006g0205 a0001c0001t0006g0218 a0001c0001t0013g0109 a0001c0001t0014g0139 a0001c0001t0014g0159 a0001c0001t0014g0190 a0001c0001t0018g0056 a0001c0001t0018g0202 a0001c0001t0033g0152 a0001c0001t0035g0090 a0001c0001t0037g0053 a0001c0001t0049g0235 a0001c0002t0001g0012 a0001c0002t0001g0172 a0001c0002t0015g0120 a0001c0002t0023g0192 a0001c0003t0001g0023 a0001c0003t0003g0068 a0001c0003t0008g0168 a0001c0004t0062g0075 a0001c0004t0068g0091 a0001c0004t0071g0022 a0001c0004t0073g0014 a0001c0005t0001g0010 a0001c0005t0001g0021 a0001c0005t0001g0079 a0001c0005t0001g0080 a0001c0005t0001g0128 a0001c0005t0007g0032 a0001c0005t0007g0078 a0001c0005t0064g0039 a0001c0006t0045g0135 a0001c0007t0003g0076 a0001c0008t0001g0188 a0001c0008t0001g0207 a0001c0008t0023g0203 a0001c0010t0003g0034 a0001c0022t0070g0094 a0001c0024t0069g0106 a0001c0032t0001g0048 a0001c0036t0072g0129 a0002c0017t0013g0220 a0004c0014t0002g0101 a0004c0014t0002g0102 a0007c0031t0001g0098	66	242	0.2727	-193	c.244 others(19): Show c.2444+1464_2444+1656del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	19/26			chr2	TogoVar
HTR1E_chr6_86932528_87021679	87009717	AGGGCGGC others(186): Show AGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCT GGCCGGGCAGGGGGGCTGACCTCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGACTGACCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCTCCCCACCTCCCTCCCGGACG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01255.hp2 HG01257.hp2 others(3): Show HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG02148.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0002g0003 a0001c0001t0002g0162 a0001c0001t0001g0017 a0001c0001t0002g0003 a0001c0001t0002g0162	6	300	0.0200	-193	c.-18 others(19): Show c.-185-5384_-185-5192del	HTR1E	ENSG00000168830.8	transcript	ENST00000305344.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGSF9B_chr11_133891438_133961968	133932683	GCAGACAG others(186): Show GCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACA GACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAA GCCAGGTGGGAGAGCAGACAGAGACAGACACAGGGAAGCCAGGTGGGAGA GCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	362	0.0028	-193	c.968 others(15): Show c.968-663_968-471del	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
KIAA1328_chr18_36824127_37230334	37126999	CGTACCCT others(186): Show CGTACCCTACTAAGACTGGAAACAAGGCAAAGATGTTCACTCTATTGACT TCTATTCGGCATTGCACTAAAAGGAAAGGCAAGAAAAAGAAATAAAAGGC TACATTACTGGAAAGGAAGTAGAACTTTGTTCACATATGATGTTATTATC TACTTAGAAAATTCTAAGGAATCTGCAAAAAAGTTACTAGAACT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	200	0.0050	-193	c.123 others(21): Show c.1233-33200_1233-33008del	KIAA1328	ENSG00000150477.15	transcript	ENST00000280020.10	protein_coding	7/9			chr18	TogoVar
LHPP_chr10_124456823_124619141	124506967	GGTAGACA others(186): Show GGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCGGGGG GTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGTAGGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGCAGGGGTA GACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGGA	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	260	0.0039	-193	c.624 others(17): Show c.624+8841_624+9033del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRBA_chr4_150259435_151020284	150420387	GTATATAT others(186): Show GTATATATAAAGTATATATAATACACATTATAGTATATATAAAGTATATA TAATACATATATAATATATAAAGTATATATAATACACATTATAATATATA TAAAGTATATATAATACACATTATAATATATATAAAGTATATATAATACA CATTATAATATATATAAAGTATATATAATACACATTATAATATA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0004 a0001c0005t0001g0004	1	180	0.0056	-193	c.704 others(19): Show c.7042-4990_7042-4798del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56			chr4	TogoVar

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Search Results (Total: 10000 hits)