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
SMYD3_chr1_245744347_246512279	245974941	TAGGGAAA others(305): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0107 a0002c0004t0001g0107	1	150	0.0067	-312	c.532 others(19): Show c.532-45316_532-45005del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975493	CAGGGAAA others(305): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01952.hp2 HG02015.hp2 HG01175.hp1 HG01952.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0002g0045 a0001c0002t0001g0058 a0001c0001t0001g0006 a0001c0001t0002g0045 a0001c0002t0001g0058	3	150	0.0200	-312	c.532 others(19): Show c.532-45868_532-45557del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975565	TAGGGAAA others(305): Show TAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA19086.hp2 NA18965.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0002 a0001c0001t0001 a0001c0014t0002	a0001c0001t0001g0075 a0001c0014t0002g0091 a0001c0001t0001g0075 a0001c0014t0002g0091	2	150	0.0133	-312	c.532 others(19): Show c.532-45940_532-45629del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975733	CAGGGAAA others(305): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCATCTCTAGCCTAGGGAAA GCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp1 HG02965.hp2 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0017 a0001c0006 a0002c0017	a0001c0006t0001 a0002c0017t0001 a0001c0006t0001 a0002c0017t0001	a0001c0006t0001g0035 a0002c0017t0001g0122 a0001c0006t0001g0035 a0002c0017t0001g0122	2	150	0.0133	-312	c.532 others(19): Show c.532-46108_532-45797del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976621	CAGGGAAA others(305): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0125 a0002c0008t0002g0125	1	150	0.0067	-312	c.532 others(19): Show c.532-46996_532-46685del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976665	AGCCCAGG others(305): Show AGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCC TAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	150	0.0067	-312	c.532 others(19): Show c.532-47040_532-46729del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246387881	TGGGGACC others(305): Show TGGGGACCTCCTTGTAGAAAGCATTCATTCTGGAAAATCACCTCGAGGTT GAAGTCAGTTTCTGGGGACATCCTTGTAGAAAGCATTCATTCTTGAAAAT CACCTCGAGGTTGAAGTCAGTTTCTAGGGGACCTCCTTGTAGAAAACATT CATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTAGGGGACCTCCT TGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTC TAGAGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCAAGGT TGAAGTCAGTTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00597.hp2 others(42): Show HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01175.hp1 HG01433.hp1 HG01433.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02965.hp2 HG03225.hp1 HG03491.hp2 HG04115.hp2 NA18747.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18971.hp1 NA19000.hp1 NA19057.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012 a0001c0014 a0002c0003 a0002c0004 a0002c0005 a0002c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0006t0003 a0001c0012t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0016t0001	a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0042 others(42): Show a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0002g0045 a0001c0001t0002g0066 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0033 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0079 a0001c0002t0002g0070 a0001c0002t0002g0078 a0001c0002t0002g0083 a0001c0006t0001g0025 a0001c0006t0001g0035 a0001c0006t0003g0001 a0001c0012t0002g0074 a0001c0014t0002g0091 a0002c0003t0001g0111 a0002c0003t0002g0102 a0002c0003t0002g0110 a0002c0003t0002g0131 a0002c0003t0002g0143 a0002c0004t0001g0098 a0002c0004t0001g0107 a0002c0004t0001g0117 a0002c0004t0001g0119 a0002c0004t0001g0121 a0002c0004t0001g0149 a0002c0005t0001g0138 a0002c0005t0002g0118 a0002c0016t0001g0097	45	150	0.3000	-312	c.165 others(19): Show c.165-33099_165-32788del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1107106	GAGTGGAC others(305): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGAT AATAATGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGGTAAT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	190	0.0053	-312	c.325 others(17): Show c.325+8744_325+9055del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107253	CCTTGGTA others(305): Show CCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGG AGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTAT GGAGAGCTCCTTGGTAAGAGTGGTCACGTGCTGTCACTCGGGTGCAGGGT ATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGG GTATGGAGAGCTG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG03486.hp1 others(1): Show HG02258.hp2 HG02922.hp1 HG03486.hp1 HG03540.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0017	a0001c0002 a0003c0026 a0004c0004 others(1): Show a0001c0002 a0003c0026 a0004c0004 a0017c0031	a0001c0002t0001 a0003c0026t0001 a0004c0004t0001 others(1): Show a0001c0002t0001 a0003c0026t0001 a0004c0004t0001 a0017c0031t0001	a0001c0002t0001g0069 a0003c0026t0001g0097 a0004c0004t0001g0150 others(1): Show a0001c0002t0001g0069 a0003c0026t0001g0097 a0004c0004t0001g0150 a0017c0031t0001g0110	4	190	0.0211	-312	c.325 others(17): Show c.325+9008_325+9319del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107669	GCTTGGTA others(305): Show GCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGG AGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTAT GGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGT ATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGG GTATGGAGAGCTC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02015.hp2 HG03942.hp2 others(4): Show HG00438.hp2 HG02015.hp2 HG03942.hp2 NA18942.hp2 NA18986.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0008	a0001c0002 a0002c0005 a0006c0010 others(2): Show a0001c0002 a0002c0005 a0006c0010 a0007c0024 a0008c0011	a0001c0002t0001 a0002c0005t0001 a0006c0010t0001 others(2): Show a0001c0002t0001 a0002c0005t0001 a0006c0010t0001 a0007c0024t0002 a0008c0011t0001	a0001c0002t0001g0170 a0002c0005t0001g0114 a0006c0010t0001g0006 others(4): Show a0001c0002t0001g0170 a0002c0005t0001g0114 a0006c0010t0001g0006 a0006c0010t0001g0009 a0007c0024t0002g0073 a0008c0011t0001g0128 a0008c0011t0001g0188	7	190	0.0368	-312	c.325 others(17): Show c.325+9675_325+9986del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108293	CCTTGGTA others(305): Show CCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGG AGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTAT GGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGT ATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGG GTATGGAGAGCTG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01975.hp2 HG02293.hp2 others(10): Show HG01346.hp1 HG01975.hp2 HG02293.hp2 HG02602.hp2 HG02738.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG04115.hp1 HG04184.hp1 NA18943.hp1 NA18969.hp1 NA19000.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0021	a0001c0002 a0002c0005 a0003c0007 others(4): Show a0001c0002 a0002c0005 a0003c0007 a0004c0014 a0005c0006 a0006c0010 a0021c0030	a0001c0002t0001 a0002c0005t0001 a0003c0007t0001 others(4): Show a0001c0002t0001 a0002c0005t0001 a0003c0007t0001 a0004c0014t0002 a0005c0006t0002 a0006c0010t0001 a0021c0030t0001	a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0022 others(10): Show a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0022 a0001c0002t0001g0028 a0001c0002t0001g0041 a0001c0002t0001g0172 a0002c0005t0001g0032 a0002c0005t0001g0107 a0003c0007t0001g0055 a0004c0014t0002g0001 a0005c0006t0002g0003 a0006c0010t0001g0012 a0021c0030t0001g0160	13	190	0.0684	-312	c.325 others(18): Show c.325+9987_325+10298del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX25_chr4_185204598_185368966	185234386	TAAAAAGT others(305): Show TAAAAAGTTTAGGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAA AAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	276	0.0036	-312	c.430 others(19): Show c.430-12903_430-12592del	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPIRE2_chr16_89823475_89876319	89852292	CCCACCCA others(305): Show CCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCA TATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGC CCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCAT CCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCAC CCCCCAGATCCCATGGCCCATCTTCCATCCTCCCTCCACCCCCCGGATCC CCTGGCCCATCTTCCGTCCTCTCCCCACCCCCTGGATCCCCTGGCCCATC TTCCATCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	356	0.0028	-312	c.645 others(17): Show c.645+1639_646-1676del	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
STAB1_chr3_52490338_52529495	52499608	CAAACTGG others(305): Show CAAACTGGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAACCCC GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAA AAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0039 a0039	a0039c0079 a0039c0079	a0039c0079t0002 a0039c0079t0002	a0039c0079t0002g0045 a0039c0079t0002g0045	1	368	0.0027	-312	c.79- others(15): Show c.79-1548_79-1237del	STAB1	ENSG00000010327.10	transcript	ENST00000321725.10	protein_coding	1/68		INFO_REALIGN_3_PRIME	chr3	TogoVar
TALDO1_chr11_742464_770012	744612	CGGGCGGA others(305): Show CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATG AAACCCCGTCTCTACTAAAAATACAAAAAATTTAGCCGGGCGAGGTGGCG GGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTC CAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA TATTTTTGTTGGCTGGGCGTGGTGACTCACGCCTATAATCCCAGCACTTT GGGAGACTAGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	416	0.0024	-312	c.-28 others(11): Show c.-2869_-2558del	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding		2851		chr11	TogoVar
TCERG1L_chr10_131087391_131316721	131228279	CCCCTCCA others(305): Show CCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTTCCCTCCAGAC AGGCATTTCCTCAAGGTCTCTGGAGTCTCCCCTCCAGACAGGCATTTCCT CAAGGCCTCACGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCG GAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTTCCCT CCAGACAGGCATTTCCTCAAGGTCTCTGGAGTCTCCACTCCAGAAAGGCA TTTCCTCAAGGCCTCACGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGG CCTCCGGAGTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(69): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02976.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03579.hp1 HG03688.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18946.hp2 NA18947.hp1 NA18979.hp1 NA18981.hp2 NA18999.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19057.hp2 NA19060.hp1 NA19077.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0010	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0009c0010 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0002c0004t0002 a0002c0004t0008 a0009c0010t0007 a0010c0016t0023	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 others(69): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0002g0271 a0001c0001t0003g0017 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0053 a0001c0001t0003g0060 a0001c0001t0003g0114 a0001c0001t0004g0018 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0049 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0004g0102 a0001c0001t0005g0206 a0001c0001t0005g0211 a0001c0001t0005g0238 a0001c0001t0005g0246 a0001c0001t0005g0265 a0001c0001t0005g0306 a0001c0001t0005g0308 a0001c0001t0007g0276 a0001c0001t0007g0312 a0001c0001t0007g0318 a0001c0001t0009g0254 a0001c0001t0009g0267 a0001c0001t0010g0075 a0001c0001t0010g0089 a0001c0001t0011g0189 a0001c0001t0012g0294 a0001c0001t0017g0054 a0001c0002t0001g0131 a0001c0002t0001g0141 a0001c0002t0001g0154 a0001c0002t0001g0170 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0160 a0001c0002t0003g0174 a0001c0002t0004g0145 a0001c0002t0004g0159 a0001c0002t0004g0168 a0001c0002t0004g0169 a0001c0002t0006g0171 a0001c0002t0010g0179 a0002c0004t0002g0220 a0002c0004t0008g0222 a0009c0010t0007g0234 a0010c0016t0023g0324	72	324	0.2222	-312	c.856 others(19): Show c.856+31668_856+31979del	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TCERG1L_chr10_131087391_131316721	131228462	CCTCCGGA others(305): Show CCTCCGGAGTCTTCCCTCCAGACAGGCATTTCCTCAAGGTCTCTGGAGTC TCCACTCCAGAAAGGCATTTCCTCAAGGCCTCACGAGTCTCCCCTCCAGA CAGGCATTTCCTCAAGGCCTCCGGAGTCTTCCCTCCAGACAGGCATTTCC TCAAGGCCTCCGGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCC GGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTCCCC TCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTTCCCTCCAGACAGGC ATTTCCTCAAGGT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19060.hp2 NA18944.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0002g0270 a0001c0001t0001g0077 a0001c0001t0002g0270	2	324	0.0062	-312	c.856 others(19): Show c.856+31485_856+31796del	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TMEM239_chr20_2811364_2823062	2822750	CCCGTCTC others(305): Show CCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGT CTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCT CTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCC TCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCC GTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01074.hp1 HG01168.hp2 others(6): Show HG00733.hp1 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01358.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0004g0002 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0004g0002 a0001c0001t0004g0003	9	400	0.0225	-312	c.57 others(11): Show c.5738_*6049del	TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding		4689		chr20	TogoVar
TPCN2_chr11_69043932_69095597	69069200	GGGGAGCA others(305): Show GGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGA CCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTC CTAGGAAGTGACCGCAGTGGGAGCAGGACCATCTGAGTCCTAGGAAGTTA CCGCAGTGGGAGCAGGGCCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGA GCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTC TGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGG AAGTTACCGCAGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0017 a0004c0008t0017	a0004c0008t0017g0106 a0004c0008t0017g0106	1	404	0.0025	-312	c.830 others(16): Show c.830-1192_830-881del	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPO_chr2_1408463_1548673	1425782	AGATCATT others(305): Show AGATCATTTCATATCCTCAGAAGTCTATGCTCCTTCTGTAAAGTCATTGT TCTAGATGCCAGGATACAGAGATGAGTTCGATCATTTCATATCCTCAGAA GTCTGTGCTCCTTCCGTAAAGTCATTGTTCTAGATGCCGGGATACAGAGG TGAGTTTGATCATTTCATATACTCAGAAGTCCATGCTCCTTCTGTAAAGT CATTGTTCTAGATGCCAGGATACAGAGATGAGTTCGATCATTTCATATTC TCAGAAGTCCGTGCTCCTTCCATAAAGTCATTTTTCTAGATGCTGGGATA CAGAGATGAGTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG02015.hp1 others(6): Show HG00408.hp1 HG00673.hp1 HG02015.hp1 HG02572.hp2 HG02615.hp1 NA18962.hp1 NA19010.hp2 NA19043.hp2 NA19058.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0006c0013 a0007c0026	a0001c0001t0001 a0002c0002t0003 a0002c0002t0007 others(6): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0013 a0003c0003t0004 a0003c0003t0005 a0006c0013t0007 a0006c0013t0012 a0007c0026t0003	a0001c0001t0001g0117 a0002c0002t0003g0127 a0002c0002t0007g0121 others(6): Show a0001c0001t0001g0117 a0002c0002t0003g0127 a0002c0002t0007g0121 a0002c0002t0013g0119 a0003c0003t0004g0051 a0003c0003t0005g0066 a0006c0013t0007g0122 a0006c0013t0012g0067 a0007c0026t0003g0052	9	130	0.0692	-312	c.179 others(17): Show c.179+2846_179+3157del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIM33_chr1_114387790_114516203	114500898	CAAGAATT others(305): Show CAAGAATTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAACACGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00735.hp1 others(78): Show HG00099.hp1 HG00323.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp2 HG02055.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp2 NA18942.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA19240.hp1 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0002 a0001c0006 a0001c0009 others(3): Show a0001c0002 a0001c0006 a0001c0009 a0003c0004 a0004c0007 a0005c0008	a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 others(29): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0023 a0001c0002t0025 a0001c0002t0027 a0001c0002t0029 a0001c0002t0032 a0001c0002t0033 a0001c0002t0034 a0001c0002t0037 a0001c0002t0041 a0001c0002t0043 a0001c0002t0046 a0001c0002t0049 a0001c0006t0010 a0001c0006t0038 a0001c0009t0039 a0003c0004t0001 a0003c0004t0004 a0003c0004t0013 a0003c0004t0014 a0003c0004t0031 a0003c0004t0050 a0004c0007t0001 a0005c0008t0013	a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 others(78): Show a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0201 a0001c0002t0004g0111 a0001c0002t0004g0114 a0001c0002t0004g0115 a0001c0002t0005g0098 a0001c0002t0005g0099 a0001c0002t0005g0101 a0001c0002t0005g0102 a0001c0002t0005g0103 a0001c0002t0005g0104 a0001c0002t0005g0105 a0001c0002t0005g0106 a0001c0002t0005g0107 a0001c0002t0005g0108 a0001c0002t0006g0087 a0001c0002t0006g0088 a0001c0002t0006g0089 a0001c0002t0006g0093 a0001c0002t0006g0094 a0001c0002t0006g0095 a0001c0002t0006g0096 a0001c0002t0006g0097 a0001c0002t0009g0202 a0001c0002t0009g0203 a0001c0002t0009g0204 a0001c0002t0009g0205 a0001c0002t0018g0145 a0001c0002t0018g0146 a0001c0002t0019g0100 a0001c0002t0019g0109 a0001c0002t0020g0112 a0001c0002t0020g0113 a0001c0002t0021g0085 a0001c0002t0021g0092 a0001c0002t0023g0002 a0001c0002t0025g0004 a0001c0002t0027g0090 a0001c0002t0029g0135 a0001c0002t0032g0116 a0001c0002t0033g0117 a0001c0002t0034g0086 a0001c0002t0037g0118 a0001c0002t0041g0110 a0001c0002t0043g0140 a0001c0002t0046g0091 a0001c0002t0049g0129 a0001c0006t0010g0119 a0001c0006t0010g0120 a0001c0006t0010g0121 a0001c0006t0010g0122 a0001c0006t0038g0124 a0001c0009t0039g0123 a0003c0004t0001g0008 a0003c0004t0004g0006 a0003c0004t0004g0009 a0003c0004t0013g0007 a0003c0004t0013g0010 a0003c0004t0014g0005 a0003c0004t0014g0012 a0003c0004t0014g0013 a0003c0004t0031g0011 a0003c0004t0050g0206 a0004c0007t0001g0014 a0005c0008t0013g0015	81	208	0.3894	-312	c.526 others(17): Show c.526+9341_526+9652del	TRIM33	ENSG00000197323.12	transcript	ENST00000358465.7	protein_coding	1/19			chr1	TogoVar
TRIML1_chr4_188134441_188152743	188152431	GTTGAGAA others(305): Show GTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTT GAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGAGGGGTTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAG GGGAGTGAGAGTGGGGGTGAGAAAGGGAGTGAGAGTGGGGGTGAGAAGGG GAGTGAGAGAGGG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	228	0.0044	-312	c.50 others(11): Show c.5060_*5371del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4689		chr4	TogoVar
TSHR_chr14_80950621_81151306	81002771	CCTAATGC others(305): Show CCTAATGCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTATCTTTTTTTTTT TTTTCTTTTTTTATTATTATTATTATACTTTAAGTTTTAGGGTACATGTG CACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGC TGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATC CCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCC TTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAA TATGCGGTGTTTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp2 others(108): Show HG00140.hp1 HG00408.hp2 HG00438.hp2 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02818.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18999.hp2 NA19001.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19076.hp2 NA19077.hp2 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0002c0005 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0014 a0001c0008t0005 a0002c0003t0003 a0002c0005t0003 a0005c0012t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 others(108): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0047 a0001c0001t0002g0058 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0126 a0001c0001t0002g0137 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0174 a0001c0001t0003g0074 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0100 a0001c0001t0003g0237 a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0048 a0001c0001t0004g0116 a0001c0001t0004g0120 a0001c0001t0004g0123 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0136 a0001c0001t0004g0138 a0001c0001t0004g0140 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0179 a0001c0001t0004g0183 a0001c0001t0005g0075 a0001c0001t0005g0135 a0001c0001t0005g0139 a0001c0001t0011g0172 a0001c0001t0014g0003 a0001c0001t0016g0242 a0001c0001t0020g0173 a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0038 a0001c0002t0001g0122 a0001c0002t0001g0149 a0001c0002t0001g0166 a0001c0002t0002g0028 a0001c0002t0002g0031 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0042 a0001c0002t0002g0046 a0001c0002t0002g0142 a0001c0002t0004g0025 a0001c0002t0004g0040 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0005g0121 a0001c0002t0008g0005 a0001c0002t0014g0169 a0001c0008t0005g0004 a0001c0008t0005g0039 a0002c0003t0003g0006 a0002c0003t0003g0007 a0002c0003t0003g0011 a0002c0003t0003g0019 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0033 a0002c0003t0003g0043 a0002c0003t0003g0044 a0002c0003t0003g0045 a0002c0003t0003g0128 a0002c0003t0003g0241 a0002c0003t0003g0269 a0002c0005t0003g0124 a0002c0005t0003g0125 a0002c0005t0003g0127 a0002c0005t0003g0134 a0002c0005t0003g0141 a0005c0012t0001g0171	111	270	0.4111	-312	c.170 others(19): Show c.170+46934_170+47245del	TSHR	ENSG00000165409.18	transcript	ENST00000298171.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
USP40_chr2_233470526_233571782	233567788	TTAGTTAT others(305): Show TTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACC TTATATAAGATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02622.hp1 others(11): Show HG02055.hp2 HG02109.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 NA19043.hp2 NA20300.hp2 NA21309.hp2	a0006 a0007 a0006 a0007	a0006c0006 a0007c0007 a0006c0006 a0007c0007	a0006c0006t0004 a0007c0007t0004 a0006c0006t0004 a0007c0007t0004	a0006c0006t0004g0026 a0006c0006t0004g0027 a0006c0006t0004g0028 others(11): Show a0006c0006t0004g0026 a0006c0006t0004g0027 a0006c0006t0004g0028 a0006c0006t0004g0030 a0006c0006t0004g0031 a0006c0006t0004g0033 a0006c0006t0004g0038 a0007c0007t0004g0029 a0007c0007t0004g0032 a0007c0007t0004g0034 a0007c0007t0004g0035 a0007c0007t0004g0036 a0007c0007t0004g0037 a0007c0007t0004g0040	14	324	0.0432	-312	c.-14 others(11): Show c.-1436_-1125del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		1007		chr2	TogoVar
ZNF131_chr5_43115914_43181322	43170672	ACCCAGGC others(305): Show ACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCC TCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCTGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTAGTAG AGATGGGGTTTTACCATATTGACCAGGCTGATCTCGAACTCCTGACCTTA TGATCCACCCGACTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGATGA CTGCACCCGGCGATTTTTTAAATTTTTTTTTAAATTTTTTTGAGACAGAG TCTCGCTCTGTCG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	336	0.0030	-312	c.105 others(19): Show c.1055-2629_1055-2318del	ZNF131	ENSG00000172262.12	transcript	ENST00000682664.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZNF425_chr7_149097784_149131324	149121082	TTTTTTTT others(305): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(228): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0011 a0001c0015 a0001c0016 a0002c0004 a0005c0009 a0006c0017 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0001c0005t0001 a0001c0007t0001 a0001c0011t0001 a0001c0015t0009 a0001c0016t0001 a0002c0004t0004 a0005c0009t0001 a0006c0017t0001 a0007c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(189): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0230 a0001c0001t0002g0231 a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0003t0001g0106 a0001c0003t0006g0232 a0001c0003t0006g0238 a0001c0003t0006g0239 a0001c0003t0006g0240 a0001c0005t0001g0060 a0001c0005t0001g0071 a0001c0005t0001g0078 a0001c0005t0001g0084 a0001c0005t0001g0088 a0001c0005t0001g0094 a0001c0005t0001g0228 a0001c0005t0001g0229 a0001c0007t0001g0136 a0001c0007t0001g0149 a0001c0007t0001g0200 a0001c0011t0001g0042 a0001c0015t0009g0173 a0001c0016t0001g0146 a0002c0004t0004g0024 a0002c0004t0004g0233 a0002c0004t0004g0234 a0002c0004t0004g0235 a0002c0004t0004g0237 a0005c0009t0001g0086 a0005c0009t0001g0097 a0006c0017t0001g0212 a0007c0013t0001g0092	231	320	0.7219	-312	c.19- others(15): Show c.19-3046_19-2735del	ZNF425	ENSG00000204947.9	transcript	ENST00000378061.7	protein_coding	1/3			chr7	TogoVar
ZNF444_chr19_56136287_56165893	56151031	ACATAGAC others(305): Show ACATAGACAGCTGACATCTGGGGGCGCTGCTGTGGATTGGGGTTTCTTGG CATCTGGTCTGTGGGAGCTGACGGTGGCGCATAGACAGCTGACATCTGGG GGCGCTGCTGTGGATTGGGGTTTCTTGGCATCTGGTCTGTGGGAGCTGAC GGTGACGCATAGACAGCTGACATCTGGGGGCGCTGCTGTGGATTGGGGTT TCTTGGCATCTGGTCTGTGGGAGCTGACGGTGGCGCATAGACAGCTGACA TCTGGAGGCGCTGCTGTGGATTGGGGTTTCTTGGCATCTGGTCTGTGGGA GCTGACGGTGGCG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01358.hp1 HG01257.hp1 HG01358.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0123 a0005c0007t0001g0197 a0005c0007t0001g0123 a0005c0007t0001g0197	2	416	0.0048	-312	c.297 others(17): Show c.297+3977_297+4288del	ZNF444	ENSG00000167685.15	transcript	ENST00000337080.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF618_chr9_113871309_114061593	113900824	CTCTCCCG others(305): Show CTCTCCCGCAAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCCCGCAA ACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCGCGCTAACCCGACCTCC TGTCTCCTAGCACCGTCCTCTCCCGCGAACCCGACCTCCTGTCTCCTAGC ACCGTCCTCTCCCGCAAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTC GCGCTAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCGCGCTAACCCG ACCTCCTGTCTCCTAGCACCGTCCTCTCCCGCAAACCCGACCTCCTGTCT CCTAGCACCGTCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20129.hp2 HG02258.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0025 a0001c0005t0025	a0001c0005t0025g0065 a0001c0005t0025g0077 a0001c0005t0025g0065 a0001c0005t0025g0077	2	264	0.0076	-312	c.33+ others(17): Show c.33+24420_33+24731del	ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ABCA6_chr17_69073702_69146895	69091510	ACCAAATA others(304): Show ACCAAATAGACTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(174): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18942.hp1 NA18948.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18982.hp2 NA18987.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19075.hp1 NA19078.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0015 a0016 a0017 a0018 a0022 a0024 a0025	a0001c0001 a0002c0002 a0003c0003 others(15): Show a0001c0001 a0002c0002 a0003c0003 a0003c0009 a0005c0005 a0006c0007 a0006c0010 a0006c0013 a0006c0031 a0007c0006 a0009c0011 a0015c0017 a0016c0020 a0017c0022 a0018c0021 a0022c0026 a0024c0029 a0025c0015	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(15): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0003c0009t0001 a0005c0005t0001 a0006c0007t0001 a0006c0010t0001 a0006c0013t0001 a0006c0031t0001 a0007c0006t0001 a0009c0011t0001 a0015c0017t0001 a0016c0020t0001 a0017c0022t0001 a0018c0021t0001 a0022c0026t0002 a0024c0029t0001 a0025c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(144): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0282 a0002c0002t0001g0023 a0002c0002t0001g0171 a0002c0002t0001g0227 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0009t0001g0169 a0003c0009t0001g0170 a0003c0009t0001g0261 a0005c0005t0001g0159 a0005c0005t0001g0160 a0006c0007t0001g0008 a0006c0007t0001g0021 a0006c0007t0001g0022 a0006c0007t0001g0166 a0006c0007t0001g0167 a0006c0010t0001g0258 a0006c0010t0001g0259 a0006c0010t0001g0260 a0006c0013t0001g0165 a0006c0013t0001g0249 a0006c0031t0001g0255 a0007c0006t0001g0059 a0007c0006t0001g0087 a0007c0006t0001g0088 a0007c0006t0001g0104 a0007c0006t0001g0105 a0009c0011t0001g0042 a0009c0011t0001g0043 a0015c0017t0001g0100 a0016c0020t0001g0266 a0017c0022t0001g0275 a0018c0021t0001g0274 a0022c0026t0002g0106 a0024c0029t0001g0243 a0025c0015t0001g0046	177	326	0.5429	-311	c.340 others(17): Show c.3409-559_3409-249del	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	25/38			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289698	TCTGCTCC others(304): Show TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTG TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG02965.hp2 HG01168.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0162 a0001c0001t0001g0031 a0001c0001t0001g0162	2	295	0.0068	-311	c.35 others(11): Show c.3555_*3865del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2692		chr1	TogoVar
ACVR1_chr2_157731446_157881330	157862573	TGAAAAGG others(304): Show TGAAAAGGTAACTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(156): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA19030.hp2 NA19043.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 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 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0017 a0001c0002t0018 a0001c0002t0020 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0019 a0001c0004t0008 a0001c0004t0009 a0001c0004t0021 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005 a0001c0006t0006	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(156): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0002g0013 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0141 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0004g0164 a0001c0001t0007g0076 a0001c0001t0007g0112 a0001c0001t0010g0003 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0001t0014g0087 a0001c0001t0016g0152 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0066 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0107 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0134 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0061 a0001c0002t0002g0075 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0132 a0001c0002t0002g0147 a0001c0002t0003g0130 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0004g0172 a0001c0002t0004g0173 a0001c0002t0005g0001 a0001c0002t0005g0002 a0001c0002t0005g0006 a0001c0002t0007g0063 a0001c0002t0010g0008 a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0002t0017g0122 a0001c0002t0018g0148 a0001c0002t0020g0163 a0001c0003t0001g0023 a0001c0003t0001g0071 a0001c0003t0001g0104 a0001c0003t0001g0136 a0001c0003t0001g0139 a0001c0003t0003g0144 a0001c0003t0004g0167 a0001c0003t0004g0168 a0001c0003t0005g0005 a0001c0003t0005g0007 a0001c0003t0019g0143 a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0004t0009g0083 a0001c0004t0009g0161 a0001c0004t0009g0162 a0001c0004t0021g0171 a0001c0005t0001g0064 a0001c0005t0001g0072 a0001c0005t0001g0123 a0001c0005t0001g0157 a0001c0005t0003g0138 a0001c0005t0004g0174 a0001c0005t0005g0004 a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 a0001c0006t0006g0121 a0001c0006t0006g0140 a0001c0006t0006g0160	159	174	0.9138	-311	c.-18 others(21): Show c.-183+12912_-183+13222del	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ADARB2_chr10_1172313_1742525	1239669	CCCCTCTG others(304): Show CCCCTCTGCCTCCCGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CCCCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCC CCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCC TCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0092 a0001c0001t0059g0092	1	106	0.0094	-311	c.136 others(19): Show c.1361+2151_1361+2461del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AP1G1_chr16_71724000_71813834	71774919	CCATGTTG others(304): Show CCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCTGCCGATCCACCTG CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTTTTTGCTCTTGTCGCC CAGGCTAGAGTGCAATGGCGCGATCCCAGCTTACTGCAACCTCCACCTCC TGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAAATGGGACTACA GGCCCCCACCACCAAACCCAGGTAATTTTTTTTTTGTATTTTTAGAACAG ACAGGGTTTCAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02132.hp1 HG00621.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0258 a0001c0001t0002g0249 a0001c0001t0002g0258	2	320	0.0063	-311	c.202 others(15): Show c.202-638_202-328del	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	2/22			chr16	TogoVar
ATP9B_chr18_79064394_79383283	79172272	CCCTTGCG others(304): Show CCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGC CACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTGTGAT TACAGGCGTAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCCCA AGGTGCTGTGATTACAGGCGTAGCCACCGTGCCCCGCCCTTCCGATCCGC CTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTGAGCCACCGTGCCCCGC CCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCC ACCGTGCGCCGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01168.hp1 HG01952.hp2 others(5): Show HG00639.hp1 HG01168.hp1 HG01952.hp2 HG02055.hp2 HG02717.hp1 HG02886.hp1 HG02922.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0002 a0001c0004t0003 others(1): Show a0001c0001t0001 a0001c0004t0002 a0001c0004t0003 a0002c0002t0002	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(5): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0004t0002g0096 a0001c0004t0002g0097 a0001c0004t0003g0098 a0002c0002t0002g0173 a0002c0002t0002g0223	8	298	0.0269	-311	c.779 others(17): Show c.779-4481_779-4171del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES2_chr20_62383634_62412285	62397972	CAGTGGTG others(304): Show CAGTGGTGATGGCGGTGGTGGTGATGATGGTGATGGTTATGGCGGTGGTG GTGGTGGTGACAGTGATGGTGATGGTGGTGATGGCGATGGTGGTGGTGAC GGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTTATGACGGTGGTGATGGTGGTGGTGGTGGTGACGGTGATGGTGGTA ATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGATGTGATGGTG GTGGTGGTGACGGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGC GGTGGTGGTGGT	C C	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0081 a0002c0003t0001g0081	1	400	0.0025	-311	c.363 others(17): Show c.363-1691_363-1381del	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CDC42_chr1_22047709_22106360	22094285	TAGAAATA others(304): Show TAGAAATAGATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACCGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG03130.hp2 HG01243.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0056 a0001c0001t0055 a0001c0001t0056	a0001c0001t0055g0076 a0001c0001t0056g0077 a0001c0001t0055g0076 a0001c0001t0056g0077	2	352	0.0057	-311	c.27 others(11): Show c.2782_*3092del	CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	6/6	2782	INFO_REALIGN_3_PRIME	chr1	TogoVar
CLEC6A_chr12_8450962_8483330	8472982	TAGCTCCT others(304): Show TAGCTCCTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGG ACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(270): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0003c0003 a0004c0005 others(2): Show a0001c0001 a0003c0003 a0004c0005 a0005c0004 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0003c0003t0005 a0004c0005t0001 a0005c0004t0005 a0006c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0002g0038 a0001c0001t0003g0014 a0001c0001t0003g0025 a0001c0001t0003g0066 a0001c0001t0008g0001 a0001c0001t0009g0044 a0001c0001t0011g0125 a0003c0003t0005g0019 a0004c0005t0001g0002 a0005c0004t0005g0019 a0006c0006t0001g0062	273	334	0.8174	-311	c.370 others(17): Show c.370-3128_370-2818del	CLEC6A	ENSG00000205846.4	transcript	ENST00000382073.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
CLIC4_chr1_24740447_24849321	24799924	GTCAGCCC others(304): Show GTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGC TGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGGGGGGGGGT CAGCCCCCCCAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(63): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG01255.hp1 HG01433.hp2 HG01891.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03540.hp1 HG03710.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18971.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19010.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0025 others(63): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0106 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0145 a0001c0001t0002g0151 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0241 a0001c0001t0002g0250 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0136 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0239 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0006g0111 a0001c0001t0006g0159 a0001c0001t0006g0240 a0001c0001t0010g0169 a0001c0001t0012g0197 a0001c0001t0012g0204 a0001c0001t0020g0198	66	344	0.1919	-311	c.182 others(17): Show c.182+2074_182+2384del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5			chr1	TogoVar
CYP4Z1_chr1_47062231_47123318	47076549	TAAGAATG others(304): Show TAAGAATGTCTTGTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGAGCGGTGGCGGGCTCCTGTAGTCCCAGCTACTTGAGAGGCTGAG GCAGGAGAATGGCGTGAACCCAGGAGGCGGACCTTGCAGTGAGCCGAGAT CGCGCCCCTGCACTCCAGCCTGGGCGACAGAGCCAGACGCTGTCTCAAAA AAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	318	0.0031	-311	c.320 others(17): Show c.320-4059_320-3749del	CYP4Z1	ENSG00000186160.5	transcript	ENST00000334194.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
DOCK1_chr10_126900428_127457516	127428479	GGTGTCAT others(304): Show GGTGTCATGTGGATTGGGGTGTCGTGTGGATTGGGGTGCCATGTCGATTG TGCCATGTGGATTGTGGTGTTGTGTGGATTGGGGTGCCATGTGGATTGTG GTGTTGTGTGGATTGGGCTGCCATGTGGATTGTGCCATGTGGATTGGGGT GTCATGTGGATTGGAGTGCCGTGTGGATTGGGGTGCCGTGTGGATTGGGG TACCGTGTGGATTGTGGTGCTGTGTGGACTGTGTCATGTGGATTGTGGTG TCCTGTGGATTGGGGTGCTGTGTGGATTGGGGTACCGTGTGGACTGTGGT GCTGTGTGGACT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0005	a0002c0010t0005g0009 a0002c0010t0005g0009	1	136	0.0074	-311	c.491 others(19): Show c.4914+2489_4914+2799del	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	47/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIPR1_chr2_3183970_3382818	3315133	TCATCACT others(304): Show TCATCACTAGCATCGCCCCCATGCCTACCATCATCACCACCCCCTACCAC CACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACC ATCCCCATACACACCCCCTACCACCACCATCACCACCATCCCCATACACA CCCCCTACCACCATCCTCACCACCATCCCCATACACACCCCCTACCACCA CCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCAT CCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACC CCCTACCACCAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	250	0.0040	-311	c.259 others(19): Show c.259+22573_259+22883del	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
FBXW10B_chr17_15578886_15624704	15602614	TTGAGACC others(304): Show TTGAGACCGAGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCCTCCG CCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTCAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG00741.hp1 others(45): Show HG00323.hp2 HG00733.hp1 HG00741.hp1 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01993.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp2 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0005 a0007 a0011 others(11): Show a0005 a0007 a0011 a0013 a0014 a0022 a0026 a0029 a0031 a0033 a0034 a0035 a0041 a0042	a0005c0005 a0005c0044 a0007c0007 others(13): Show a0005c0005 a0005c0044 a0007c0007 a0011c0014 a0011c0026 a0013c0012 a0014c0011 a0022c0020 a0026c0060 a0029c0043 a0031c0037 a0033c0035 a0034c0041 a0035c0045 a0041c0048 a0042c0058	a0005c0005t0006 a0005c0005t0009 a0005c0005t0033 others(21): Show a0005c0005t0006 a0005c0005t0009 a0005c0005t0033 a0005c0044t0045 a0007c0007t0007 a0011c0014t0034 a0011c0014t0056 a0011c0026t0019 a0011c0026t0089 a0013c0012t0002 a0014c0011t0023 a0014c0011t0035 a0014c0011t0047 a0014c0011t0048 a0014c0011t0060 a0022c0020t0012 a0026c0060t0013 a0029c0043t0082 a0031c0037t0090 a0033c0035t0031 a0034c0041t0059 a0035c0045t0006 a0041c0048t0046 a0042c0058t0052	a0005c0005t0006g0051 a0005c0005t0006g0052 a0005c0005t0006g0055 others(42): Show a0005c0005t0006g0051 a0005c0005t0006g0052 a0005c0005t0006g0055 a0005c0005t0006g0056 a0005c0005t0006g0057 a0005c0005t0009g0397 a0005c0005t0033g0053 a0005c0005t0033g0054 a0005c0044t0045g0046 a0007c0007t0007g0004 a0007c0007t0007g0032 a0007c0007t0007g0033 a0007c0007t0007g0035 a0007c0007t0007g0036 a0007c0007t0007g0040 a0007c0007t0007g0041 a0007c0007t0007g0042 a0011c0014t0034g0021 a0011c0014t0056g0250 a0011c0026t0019g0326 a0011c0026t0089g0418 a0013c0012t0002g0023 a0013c0012t0002g0237 a0013c0012t0002g0325 a0013c0012t0002g0327 a0013c0012t0002g0328 a0013c0012t0002g0329 a0014c0011t0023g0273 a0014c0011t0023g0276 a0014c0011t0035g0277 a0014c0011t0035g0278 a0014c0011t0047g0044 a0014c0011t0048g0045 a0014c0011t0060g0274 a0022c0020t0012g0043 a0022c0020t0012g0048 a0022c0020t0012g0049 a0026c0060t0013g0412 a0029c0043t0082g0330 a0031c0037t0090g0419 a0033c0035t0031g0037 a0034c0041t0059g0268 a0035c0045t0006g0058 a0041c0048t0046g0050 a0042c0058t0052g0411	48	452	0.1062	-311	c.143 others(19): Show c.1433+2298_1433+2608del	FBXW10B	ENSG00000241322.11	transcript	ENST00000395906.8	protein_coding	7/11			chr17	TogoVar
GAL3ST2_chr2_241771822_241809287	241807193	GCCCAGGA others(304): Show GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCA GGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG03139.hp1 HG01109.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0076 a0002c0002t0002g0004 a0001c0001t0002g0076 a0002c0002t0002g0004	2	314	0.0064	-311	c.30 others(11): Show c.3028_*3338del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2907		chr2	TogoVar
GMDS_chr6_1618806_2250605	1682557	TTCATTTT others(304): Show TTCATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(126): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18961.hp1 NA18961.hp2 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18994.hp2 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp2 NA19079.hp2 NA19082.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(126): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0002g0022 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0119 a0001c0001t0003g0115 a0001c0001t0004g0104 a0001c0002t0001g0005 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0037 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0001g0164 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0044 a0001c0002t0002g0050 a0001c0002t0002g0059 a0001c0002t0002g0077 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0005g0019 a0001c0002t0006g0166 a0001c0004t0001g0165	129	166	0.7771	-311	c.987 others(19): Show c.987+43548_987+43858del	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMEB2_chr20_63582605_63632101	63608893	CCTCTGAC others(304): Show CCTCTGACCTCACCTCCATTTCTAGAAACATGCCCCTGTGACCCCACCTC CATTTCTAGAAACATGCCCCTCTGACTCACCTCCATTTCTAGAAACATGC CCCTCTGACCCACACCTCCATTTCTAGAAACATGTCCCTCTGACCCACAC CTCCATTTCTAGAAACATGCCCCTGACCCCACACCTCCATTTCTAGAAAC ATGCCCCTCTGACCCACCTCCATTTCCAGAAACATGCCCCTCTGACCCCA CACATCCATTTCTAGAAACATGTCCCTCTGACTCACCTCCATTTCTAGAA ACATGCCACTCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp1 HG02257.hp2 others(4): Show HG01081.hp1 HG02109.hp1 HG02257.hp2 HG03139.hp1 HG03209.hp1 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0114 a0001c0001t0001g0115 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0187	7	330	0.0212	-311	c.132 others(17): Show c.132-4364_132-4054del	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GRM1_chr6_146024062_146442601	146212766	TTGGAGAG others(304): Show TTGGAGAGTTCTTCCTTAAGGCAACTATACCACAAACTTACAGCTAGTTT ATGAAGTATATATACACCCAACTGATATCACTTCCCTGTGTACTCATTTG TTAAATTGTTCTATTTTTAGTATAATAATTATTTCTAATTGTTTCTCATA AGGTAACGTTTATCGAGTTTCTACTACATGCTAGACTTGATGCCAGAAGC TGTGGTATAAAACCACAAAGGCAAAGGAAACAGCCTTACAGAGCTTAATT GTGCATTCAATTTGGGGTAATTGGTATAATAAGGGAAGTAGAAAATTCTG TAAGAGAATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0010 a0003c0016t0010	a0003c0016t0010g0158 a0003c0016t0010g0158	1	158	0.0063	-311	c.950 others(19): Show c.950+53173_950+53483del	GRM1	ENSG00000152822.15	transcript	ENST00000282753.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNIP1_chr5_170499020_170741632	170704202	GATTAGTC others(304): Show GATTAGTCTCTGTGACCCCAAGGATGCCTCCTGAAATTGCTGATTCAATT TCTCCTAATAAAATAGGAACAATAATTAGCTAATAAGAAATCAACAATTA AAGCTATGAGAGAATTAAGTGAGATCATGTAAGCAAAGTACATGTCACAG TGCTCTGCAAATAGGCAGTGCTCAGAAGTGTCACCTTTTCTCTTTCTTCT CTGAGCCTCCGTCTTCTCTTCGGTAAAATGAGAATAATATTATGCATACC TCACAGGGGTTAAGCAATGTGAAAGTACTCTGTAAAGTATAAGGCTGAAA TGTACTGGGCTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01071.hp1 others(30): Show HG00140.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01255.hp2 HG01884.hp2 HG01981.hp1 HG02055.hp1 HG02132.hp1 HG02145.hp2 HG02280.hp1 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp2 HG03579.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0021 others(30): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0084 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0004g0034 a0001c0001t0004g0036 a0001c0001t0004g0046 a0001c0001t0004g0112 a0001c0001t0005g0028 a0001c0001t0010g0017 a0001c0001t0010g0018 a0001c0001t0012g0006 a0001c0001t0013g0024 a0001c0001t0021g0099 a0001c0001t0023g0105 a0001c0001t0026g0106	33	218	0.1514	-311	c.62- others(17): Show c.62-14554_62-14244del	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
LMLN_chr3_197955217_198048720	198003575	TATCTATC others(304): Show TATCTATCTATATATCATCTATACAGATACATATCATACATAGTAAGTTT GACATTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGCC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01255.hp1 HG01884.hp2 others(4): Show HG01175.hp1 HG01255.hp1 HG01884.hp2 HG01934.hp2 HG02258.hp1 HG02809.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0017 a0002c0002t0043 others(2): Show a0002c0002t0002 a0002c0002t0017 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045	a0002c0002t0002g0030 a0002c0002t0017g0031 a0002c0002t0017g0035 others(4): Show a0002c0002t0002g0030 a0002c0002t0017g0031 a0002c0002t0017g0035 a0002c0002t0017g0036 a0002c0002t0043g0034 a0002c0002t0044g0032 a0002c0002t0045g0033	7	258	0.0271	-311	c.131 others(17): Show c.1319+489_1319+799del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198003614	ATAGTAAG others(304): Show ATAGTAAGTTTGACATTATCTATATATCATCTATACAGATACATATCATA CGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCA TACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATAT CATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACAT ATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATAC ATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGAT ACATATCATACG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01243.hp1 others(7): Show HG01081.hp1 HG01106.hp1 HG01243.hp1 HG02615.hp1 HG02970.hp2 HG03041.hp2 HG03688.hp2 NA18948.hp2 NA19065.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0012 others(2): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0012 a0002c0002t0014 a0002c0002t0020	a0002c0002t0002g0001 a0002c0002t0002g0068 a0002c0002t0008g0008 others(6): Show a0002c0002t0002g0001 a0002c0002t0002g0068 a0002c0002t0008g0008 a0002c0002t0008g0009 a0002c0002t0012g0072 a0002c0002t0014g0058 a0002c0002t0014g0062 a0002c0002t0020g0029 a0002c0002t0020g0056	10	258	0.0388	-311	c.131 others(17): Show c.1319+501_1319+811del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAPT_chr17_45889554_46033334	45903841	TTATATAT others(304): Show TTATATATTATATATTATATATATTATATATTATATATTTATATATTTAT ATATTATATATATTTATATATTATATATTTATATATATTATATATTTATA TATAATATATATTATATATTATATATTATATATTATATATTATATATTTA TATATATTATATATTATATATATTATATATTATATATTTATATATTATAT ATTTATATATATTATATATTATATATTATATATTTATATATTATATATTT ATATATTATATATATTTATATATATTATATATTATATATTATATATGTAT ATATTATATATG	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0070 a0002c0002t0006g0070	1	253	0.0040	-311	c.-18 others(17): Show c.-18+9157_-18+9467del	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar

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