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
TMEM132C_chr12_128262170_128712911	128596192	ATCACACT others(285): Show ATCACACTGGGCTGCCCCTTTCGCAGGTCCTGGTACAGAGGCGGCAGGGC TTCACTGATCCCATGTTCTGTCCATCACACTGGGCTGCCCCTTTCGCAGG TCCTGGTACAGAGGCGGCAGGGCTTGACTGATCCTGTGTTCTCTCCATCA CACTGGGCTGCCCCTTTCGCAGGTCCTGGTACAGAGTGGGCAGGGCTTGA CTGATCCCGTGTTTTCTCCATCACAGTGGGCTGCCCCTTTCGCAGGTCTT GGTACAGAGGTGGCAGGGCTTCACTGATCCCATGTTCTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0005 a0005	a0005c0051 a0005c0051	a0005c0051t0003 a0005c0051t0003	a0005c0051t0003g0167 a0005c0051t0003g0167	1	170	0.0059	-292	c.112 others(21): Show c.1122-19939_1122-19648del	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TRUB1_chr10_114933195_114982676	114935273	CCCAATCA others(285): Show CCCAATCACCTACCACCAGGCCCAACCTCCAACACTGGGAGCTAAACCAT TCACGAGGGGTCCACTCCTGTGACCCAATCACCTACCACCAGGCCCAACC TCCAACACTGGGAGCTAAACCATTCACGAGGGGTCCACTCCTGTGACCCA ATCACCTACCACCAGGCCCAACCTCCAACACTGGGAGCTAAACCATTCAC GAGGGGTCCACTCCTGTGACCCAATCACCTACCACCAGGCCCAACCTCCA ACACTGGGAGCTAAACCATTCACGAGGGGTCCACTCCTGTGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01109.hp1 others(7): Show HG00099.hp2 HG00140.hp1 HG01109.hp1 HG01256.hp1 HG01258.hp2 HG02723.hp2 HG03098.hp1 HG03579.hp2 HG03942.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0004 a0003c0003t0010 a0001c0001t0004 a0003c0003t0004 a0003c0003t0010	a0001c0001t0004g0094 a0001c0001t0004g0154 a0001c0001t0004g0155 others(6): Show a0001c0001t0004g0094 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0003c0003t0004g0013 a0003c0003t0010g0013 a0003c0003t0010g0152 a0003c0003t0010g0158	10	238	0.0420	-292	c.-29 others(11): Show c.-2980_-2689del	TRUB1	ENSG00000165832.6	transcript	ENST00000298746.5	protein_coding		2921		chr10	TogoVar
TRUB1_chr10_114933195_114982676	114935492	CCCAATCA others(285): Show CCCAATCACCTACCACCAGGCCCAACCTCCAACACTGGGAGCTAAACCAT TCACGAGGGGTCCACTCCTGTGATCCAATCACCTACCACCAGGCCCAACC TCCAACACTGGGAGCTAAACCATTCACGAGGGGTCCACTCCTGTGATCCA ATCACCTACCACCAGGCCCAACCTCCAACACTGGGAGCTAAACCATTCAT GAGGGGTCCACTCCTGTGATCCAATCACCTACCACCAGGCCCAACCTCCA ACACTGGGAGCTAAACCATTCATGAGGGGTCCACTCCTGTGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	238	0.0042	-292	c.-27 others(11): Show c.-2761_-2470del	TRUB1	ENSG00000165832.6	transcript	ENST00000298746.5	protein_coding		2702		chr10	TogoVar
UPK3BL2_chr7_102532919_102548696	102534526	TCAGCACT others(285): Show TCAGCACTTTGGGAGGCCAAGGTGGGAGCATCTCTTGAGCTCAGGAGTTC CAAACTAGCCTGGGCAACATGGCGAGACCCCATCTCTACAAAAAATAAAA AAATTAGCTGGGTGGTGGCACATACCTATAATCCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGCTTGAACCCAGGGGTTCAAGGCTGCAGTGAGCTA TGATCGTGCCACTGCACTCAAGCCTGGGTGACAGAGACCCTGCCTCTACA AAAAAAAAGAAAGTTAGCTAGGTGCCTGTAGTGCCTGTAATCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0007 a0000c0005t0007	a0000c0005t0007g0003 a0000c0005t0007g0003	1	182	0.0055	-292	c.35 others(11): Show c.3599_*3890del	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		3392		chr7	TogoVar
ACAP3_chr1_1287391_1312930	1289691	CCGTGTCT others(284): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0156 a0001c0001t0005g0156	1	295	0.0034	-291	c.35 others(11): Show c.3582_*3872del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2699		chr1	TogoVar
ACSBG2_chr19_6130667_6198091	6163188	ACCTGTAA others(284): Show ACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTC AGGAGGTACAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAAATACAAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGC TGCTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAAGCGGAGGT TGCAGTGAGCCGAGATAGTGCCACTGCACTCAAGCCTGGCGAAAGAGCGA GACTCCATCTAAAAAAAAAAAGGCTGGGTGTGGTGGCTCATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(110): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03195.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18956.hp2 NA18963.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA19000.hp2 NA19001.hp2 NA19007.hp1 NA19012.hp1 NA19030.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19089.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0001c0017 a0001c0024 others(1): Show a0001c0001 a0001c0017 a0001c0024 a0018c0015	a0001c0001t0001 a0001c0017t0001 a0001c0024t0001 others(1): Show a0001c0001t0001 a0001c0017t0001 a0001c0024t0001 a0018c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(110): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0017t0001g0239 a0001c0024t0001g0036 a0018c0015t0001g0257	113	262	0.4313	-291	c.588 others(17): Show c.588+1917_588+2207del	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49462946	TGGGGCCT others(284): Show TGGGGCCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAG GAGGTGCTGGGGCCCGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCC CGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCCAGACTCCTGGGT CTGAGGGAGGAGGGGCTGGCGGCCTGGACTCCTGGGTCTGAGGGAGGAGA GGCTGGGGGTCCAGACTCCTGGGTCTGAGGGAGGAGGGGCTG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01884.hp1 HG01884.hp2 others(27): Show HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp1 HG02056.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA19080.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0015 others(2): Show a0001c0001 a0001c0014 a0001c0015 a0001c0016 a0001c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0014t0001 a0001c0014t0007 a0001c0015t0001 a0001c0015t0003 a0001c0016t0001 a0001c0016t0007 a0001c0028t0001	a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0066 others(22): Show a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0003g0074 a0001c0001t0004g0014 a0001c0001t0004g0037 a0001c0001t0004g0131 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0198 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0005g0010 a0001c0001t0006g0076 a0001c0014t0001g0075 a0001c0014t0007g0073 a0001c0015t0001g0077 a0001c0015t0003g0078 a0001c0016t0001g0068 a0001c0016t0007g0067 a0001c0028t0001g0070	30	342	0.0877	-291	c.109 others(17): Show c.1098+202_1098+492del	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF10_chr8_1818926_1963641	1888895	AGTTGGGT others(284): Show AGTTGGGTGAGGGTTGTGAGGAGACAGTGGGGTGAGGGGTCTGTGACGAG ACACTGAGTGGGGTGAGGGGTCTGCGAGGAGACACTGAGGTGTGAGGGGT CTACAAGGAGTCACGGAGTGCAGTGAGAGTTGTGAGGAAACATGGAGTGG GGTGCGGGTCATGAGGAGACAGTGATTGGGGTGAGGGGTCCGTGAGGAGA CACTGAGTGGGGTGTGAGGGGTCTGTGAGGAGACACTGTGAGTGGGGTGA GGGTTGTGAGGAGACGCTGAGTTGGGGGGTTGTGAGGAGAGC	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0023 a0001c0009t0023	a0001c0009t0023g0046 a0001c0009t0023g0047 a0001c0009t0023g0046 a0001c0009t0023g0047	2	363	0.0055	-291	c.118 others(19): Show c.1182+3191_1182+3481del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049350	TGGGGGCA others(284): Show TGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCA GAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAAT ACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGG GCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGA GAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGGGAACACATG GAGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	308	0.0033	-291	c.50 others(11): Show c.5090_*5380del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2753		chr8	TogoVar
B9D2_chr19_41349417_41369149	41361787	AAAAAAAA others(284): Show AAAAAAAAAAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTT TGGAAGGCCTACGCAGGCGGATCACTTAAGGCCAGGAGTTCAAGACCAGC CTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCT GGGTATGGTAGCGGGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGACATA GGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGT GCCACTGCACTCTAGCTTGGCTACAGAGTGAGACTCTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01106.hp1 others(26): Show HG00639.hp1 HG00741.hp1 HG01106.hp1 HG01109.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG02109.hp2 HG02280.hp1 HG02486.hp2 HG02615.hp2 HG02735.hp2 HG02738.hp2 HG02976.hp2 HG03209.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp2 NA18949.hp1 NA18949.hp2 NA18984.hp1 NA19006.hp1 NA19064.hp1 NA19084.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0023 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0002g0077 a0003c0003t0001g0089 a0003c0003t0001g0093	29	360	0.0806	-291	c.88+ others(15): Show c.88+1354_88+1644del	B9D2	ENSG00000123810.9	transcript	ENST00000243578.8	protein_coding	2/3			chr19	TogoVar
BRSK2_chr11_1384934_1467689	1441223	ACTACCCC others(284): Show ACTACCCCTCAAGTGCACCGTCCCCCCCATTAGCGGCCCCTCAAGTGCAC CCTCCCCCCCATTAGCTGCCCCTCAAGTGCACCATCCCCCCCATTAACTA CCCCTCAAGTGCACCATCCCCCCCATTAGCGGCCCCTCAAGTGCACCGTG CCCCCCATTAGCTGCCCCTCAAGTGCACTGTCCCCCCATAGTGGCCCCTC AGGTGCACCGTCCCCCCCATTAGCTACTCCTCAAGTGCACCATCCCCTCC CCCCCATTAGCTACCCCTCAAGTGCACCGTCCACCCCATTAG	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19081.hp2 NA19005.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0082 a0001c0001t0001g0097	2	360	0.0056	-291	c.413 others(15): Show c.413+318_413+608del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CACNA1B_chr9_137872782_138129619	137976812	AGCCTTGG others(284): Show AGCCTTGGAGGCAGTGTGTTTCCCAGCTTACCATGACAGCTGAGCACAGA GGGCAGTGCTGGGCAGTCTGAGAATTACCAACTTATGTAGGTAGGGAGGC CTTGGAGGCAGTGTGTTTCCCAGCTTACCATGACAGCTGAGCACAGAGGG CAGGGCAGGGCAGTCTGAGAATTACCAACTTATGTAGGTAGGGAGGCCTT GGAGGCAGTGTGTTTCCCAGCTTACCATGACAGCTGAGCACAGAGGGCAG TGCTGGGCAGTCTGAGAATTACCAACTTATGTAGGTAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0008 a0004c0023t0008	a0004c0023t0008g0077 a0004c0023t0008g0077	1	248	0.0040	-291	c.165 others(18): Show c.1656+849_1656+1139del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	12/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CAMKK1_chr17_3855315_3898053	3871469	CTCAGCCT others(284): Show CTCAGCCTCTCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGC TAATTTTTTTTCTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAA GTGCTGGAATTACAGGTGTGAGCCGCCGCACCCGGCCTTATTCAGTTTCT TTCTTCTGTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCT CACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp2 HG03579.hp1 others(1): Show HG02965.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0009 a0001c0003t0051 a0002c0001t0006 a0001c0003t0009 a0001c0003t0051 a0002c0001t0006	a0001c0003t0009g0377 a0001c0003t0009g0396 a0001c0003t0051g0293 others(1): Show a0001c0003t0009g0377 a0001c0003t0009g0396 a0001c0003t0051g0293 a0002c0001t0006g0186	4	446	0.0090	-291	c.112 others(18): Show c.1124+794_1124+1084del	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	12/15			chr17	TogoVar
CDC42BPA_chr1_226984865_227323492	227264352	ATGTACTG others(284): Show ATGTACTGCTTTATTGTCCATGTCCCTCAGGCAACAGACACAAGGGATTA CTGAAAAGAAAAAGATTCCAGGATCAGATTTGTCATTCCCCAACTCCAAA AGGCCAAAACATTTCAATGGCTATATTTTCAAATAAGATTTATATCCTAC AATATCCTTTGAGGTTTTCTTACTAGAATGAAACATACATTTTAGGAGAG TTAATGATTTAGTTGGAGTGGAGAGAAACAAGCAAGTCACGGGATTTTCA AAAAGTATAACAATTCAGTTAAGAGTATACATTAATTAATGT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01261.hp2 others(13): Show HG01168.hp1 HG01169.hp2 HG01261.hp2 HG01884.hp2 HG02258.hp1 HG02451.hp1 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp2 NA18906.hp1 NA19030.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0064 a0001c0006t0008 a0001c0006t0064	a0001c0006t0008g0321 a0001c0006t0008g0322 a0001c0006t0008g0333 others(13): Show a0001c0006t0008g0321 a0001c0006t0008g0322 a0001c0006t0008g0333 a0001c0006t0008g0334 a0001c0006t0008g0335 a0001c0006t0008g0336 a0001c0006t0008g0337 a0001c0006t0008g0338 a0001c0006t0008g0339 a0001c0006t0008g0340 a0001c0006t0008g0341 a0001c0006t0008g0342 a0001c0006t0008g0343 a0001c0006t0008g0344 a0001c0006t0008g0345 a0001c0006t0064g0349	16	352	0.0455	-291	c.179 others(19): Show c.179-10488_179-10198del	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	1/36			chr1	TogoVar
CDK12_chr17_39456486_39539544	39498917	TTCTTTCT others(284): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01361.hp2 HG00140.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0220 a0001c0001t0012g0093 a0001c0001t0001g0220 a0001c0001t0012g0093	2	260	0.0077	-291	c.242 others(19): Show c.2420-2331_2420-2041del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
COG1_chr17_73188055_73213507	73194168	TGCGGTGG others(284): Show TGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGT GGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACACGGTGAAACC CCGTCTCTACTAAAAATACACAAAATTAGCCAGGCGTGGTGGCCGGCGCC TGTAGTCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTG GGCCACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAG	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0124 a0002c0001t0001g0124	1	428	0.0023	-291	c.315 others(16): Show c.315+785_315+1075del	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding	1/13			chr17	TogoVar
CORO2B_chr15_68573993_68732806	68691333	AAAAAAAA others(284): Show AAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18968.hp1 NA19002.hp2 others(2): Show HG01106.hp1 NA18968.hp1 NA19002.hp2 NA19090.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0052 a0001c0001t0001g0199 a0001c0001t0002g0095 others(2): Show a0001c0001t0001g0052 a0001c0001t0001g0199 a0001c0001t0002g0095 a0001c0001t0005g0015 a0001c0001t0007g0193	5	256	0.0195	-291	c.217 others(17): Show c.217-3796_217-3506del	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
DLGAP2_chr8_732628_1713476	1017097	GCGCCTCC others(284): Show GCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGT GTGACCGGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGA CGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG ACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCT CCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACC AGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03710.hp1 HG01071.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0003 a0001c0003t0001 a0002c0001t0003	a0001c0003t0001g0025 a0002c0001t0003g0022 a0001c0003t0001g0025 a0002c0001t0003g0022	2	40	0.0500	-291	c.73+ others(19): Show c.73+109132_73+109422del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DNAH11_chr7_21538039_21906839	21797286	CTCAGCTC others(284): Show CTCAGCTCATTACAACCTCCACCTCCGAGGTTCAAGCAGTTCTCCTGCCT CAGCCTCCCGAGTAGCTGGCATTACAGGCCTGCGCCACCATGCCCGGCTA ATTTTGTATTTTTAGTAGAGACGGGGTTTCTCTATGTTGGTCAGGCTGGT CTCAAACTCGTGACCTCAGGTGATCCGCTCGCCTCGGCCTCCCAAAATGC TGGGATTAGAGGCTTGAGCCACCACACCCAGCCCTTGAACTATTTTTTCT AGTACATGTACAGTTTACATATTTATGTTTATATTAACTGTA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03516.hp1 HG02280.hp2 HG03516.hp1	a0084 a0167 a0084 a0167	a0084c0163 a0167c0192 a0084c0163 a0167c0192	a0084c0163t0005 a0167c0192t0005 a0084c0163t0005 a0167c0192t0005	a0084c0163t0005g0088 a0167c0192t0005g0197 a0084c0163t0005g0088 a0167c0192t0005g0197	2	298	0.0067	-291	c.100 others(21): Show c.10027-3849_10027-3559del	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPB41L1_chr20_36149740_36237799	36204596	TGCCTCAG others(284): Show TGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCT GGCCTTTCTTTTTTTTAGACGGAGTCTCGCTCTGTCACCAGGCTGGAGTG CAGTGGCACAGTCTCGGCTCACTGCAACCTCCGCCTCCCAGATTAAAGCA ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCAC CATGTCTGGCTAATTTTTTGTATTTTTAGTAGGGATGGGGTTTCACCATG TTGGCCAGGATGGTCTTGATCTCTTGACCTCATGATCTGCCA	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	236	0.0042	-291	c.166 others(19): Show c.1669-4859_1669-4569del	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
FOXN3_chr14_89151177_89422233	89361563	CACCTCCA others(284): Show CACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCA CCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCC AGCACCACCTCCACCACCACCTCCACCACCACCTCCACCACTACCACCTC CAGCACTACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCT CCACCACCACCACCTCCAGCACCACCACCTCCACCACCACCACCTCCACC ACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0002 a0001c0001t0031g0002	1	230	0.0044	-291	c.544 others(19): Show c.544-11046_544-10756del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805903	TCCCCCCT others(284): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	314	0.0032	-291	c.17 others(11): Show c.1738_*2028del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1617		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132234779	AGAGGAGA others(284): Show AGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAG GAGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGA GACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGA CAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACA GCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp2 HG02895.hp1 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0035 a0001c0003 a0001c0035	a0001c0003t0001 a0001c0035t0009 a0001c0003t0001 a0001c0035t0009	a0001c0003t0001g0006 a0001c0035t0009g0140 a0001c0003t0001g0006 a0001c0035t0009g0140	2	183	0.0109	-291	c.107 others(21): Show c.1077+12840_1077+13130del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GSG1L_chr16_27782528_28068714	27805299	TGGGGTGG others(284): Show TGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGTGGGGGGAGGGCT GTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGG GTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGGTGGGGGGAGGGCTGTG GGCACTGGGATTGGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGT GGGGGGAGGGCTGTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGC ACTGGGATTGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTG	T T	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0197 a0001c0001t0011g0197	1	240	0.0042	-291	c.898 others(17): Show c.898+1897_898+2187del	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
INPP5E_chr9_136423619_136444845	136431285	CTCCTCAT others(284): Show CTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATC TCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCAC GCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCC CCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCC CTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTT TCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	382	0.0052	-291	c.154 others(17): Show c.1549+248_1550-169del	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
INPP5E_chr9_136423619_136444845	136431432	CCCCCCCA others(284): Show CCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAG GCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCAC CTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTC ATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCT CCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCC GCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02040.hp1 HG02071.hp1 others(4): Show HG00609.hp1 HG02040.hp1 HG02071.hp1 NA18956.hp2 NA18980.hp2 NA19005.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0002 a0001c0014t0002 a0001c0002t0002 a0001c0014t0002	a0001c0002t0002g0039 a0001c0002t0002g0151 a0001c0002t0002g0158 others(3): Show a0001c0002t0002g0039 a0001c0002t0002g0151 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0014t0002g0149 a0001c0014t0002g0150	7	382	0.0183	-291	c.154 others(17): Show c.1549+101_1550-316del	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
LRMDA_chr10_75426624_76565168	76142673	TGTTATTA others(284): Show TGTTATTATCTTTATTATTATTATTATTATTATTATACTTTAAGTTTTAG GGTACATGTGCACAATGTGCAGGTTTGTTACATATGTATACATGTGCCAT GTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCC TAATGCTATCCTTCCCCCCTCCCCCTACCCAACAACAGTCCCCAGTGTGT GATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTA TGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCGATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp2 HG03139.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0005 a0001c0001t0008 a0001c0002t0005	a0001c0001t0008g0010 a0001c0002t0005g0032 a0001c0001t0008g0010 a0001c0002t0005g0032	2	46	0.0435	-291	c.516 others(19): Show c.516+83894_516+84184del	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYOM2_chr8_2040046_2150456	2086203	GCCCCACT others(284): Show GCCCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCG TGGCCCCACTGTCATGATCTCTGGCACCCCACTGTCGTGATCTCCGCGTG GCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTG CGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTGATC TCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCCCCTACTGTCGT GATCTCCACGTGGCCACACACTGTCATGATCTCTGTGTGGCC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA20300.hp2 HG03516.hp2 NA20300.hp2	a0020 a0020	a0020c0027 a0020c0027	a0020c0027t0001 a0020c0027t0001	a0020c0027t0001g0088 a0020c0027t0001g0090 a0020c0027t0001g0088 a0020c0027t0001g0090	2	403	0.0050	-291	c.164 others(18): Show c.1644+824_1644+1114del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64173954	GTAGTTGT others(284): Show GTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTT GTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTA GTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTT GTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	223	0.0045	-291	c.-99 others(17): Show c.-99+9230_-99+9520del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NEU4_chr2_241804193_241822413	241805903	TCCCCCCT others(284): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	319	0.0031	-291	c.-33 others(11): Show c.-3374_-3084del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3289		chr2	TogoVar
NSMF_chr9_137442570_137464334	137451336	GCCCCTCG others(284): Show GCCCCTCGTCTCTTCCCCTTGATCTCCCCCGCCACGTCTCTTCCCCTTGA TCTCCCCCGCCACGTCTCTTCCCCTTGATCTCCCGCGCCACACGCCTCTT CCCCTTGTTCTGCCCTCCACGCCTCTTCCCCTTGGTCTTCCCCACCACAC GCCTCTTCCCCTTGGTCTCCCCCGCCACGTCTCTTCCCCTTGGTCTTCCT TGGCCACACGCCTCTTCCCCTTGATCTCCCCACCATGCCTCTTCCCCTTG ATCTCCCCCTCCACACGCCTCTTCCCCTTGATCTTCCCCTGC	G G	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	414	0.0024	-291	c.123 others(18): Show c.1236+738_1236+1028del	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
PBX4_chr19_19556713_19623687	19568247	GCTCACAC others(284): Show GCTCACACTCCATCTGTAACCCTCAGGGAGCTCACACTCCATCTGTATCC CTCAGGGAGCTCACACTCTATCAGTATCCCTCAGGGAGCTCACACTCCAT CTGTATCCCTCAGGGAGCTCACACTCTATCAGTATCCCTCAGGGAGCTCA CACTCCATCTGTATCCCTCAGGGAGCTCACACTCCATCTGTATCCCTCAG GGAGCTCACACTCCACCTCAGTCACCTCAGGGAACTCACACTCCATCTGT ATCCCTCAAGGAGCTCACACTCCATCTGTATCCCTCAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01433.hp1 HG01934.hp2 others(8): Show HG00639.hp1 HG01433.hp1 HG01934.hp2 HG01981.hp1 HG02056.hp1 HG02293.hp1 HG04204.hp2 NA18939.hp2 NA18960.hp1 NA18967.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0222 others(8): Show a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0255 a0001c0001t0001g0275 a0001c0001t0001g0282	11	376	0.0293	-291	c.768 others(16): Show c.768+911_768+1201del	PBX4	ENSG00000105717.14	transcript	ENST00000251203.14	protein_coding	5/7			chr19	TogoVar
PCDH15_chr10_53797771_54806231	54198496	TTTTTTTT others(284): Show TTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG00741.hp2 others(39): Show HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01884.hp2 HG01934.hp2 HG02027.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03710.hp1 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0002 a0003 a0007 others(12): Show a0002 a0003 a0007 a0010 a0016 a0017 a0020 a0021 a0031 a0032 a0033 a0034 a0035 a0036 a0037	a0002c0002 a0002c0021 a0003c0003 others(13): Show a0002c0002 a0002c0021 a0003c0003 a0007c0007 a0010c0009 a0016c0012 a0017c0011 a0020c0027 a0021c0026 a0031c0020 a0032c0024 a0033c0023 a0034c0022 a0035c0025 a0036c0019 a0037c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(31): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0023 a0002c0002t0024 a0002c0002t0027 a0002c0021t0021 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0006 a0003c0003t0009 a0003c0003t0019 a0007c0007t0002 a0007c0007t0003 a0007c0007t0022 a0010c0009t0011 a0010c0009t0012 a0016c0012t0001 a0017c0011t0012 a0020c0027t0001 a0021c0026t0008 a0031c0020t0007 a0032c0024t0001 a0033c0023t0026 a0034c0022t0001 a0035c0025t0007 a0036c0019t0015 a0037c0018t0001	a0002c0002t0001g0093 a0002c0002t0002g0037 a0002c0002t0002g0063 others(39): Show a0002c0002t0001g0093 a0002c0002t0002g0037 a0002c0002t0002g0063 a0002c0002t0004g0041 a0002c0002t0004g0077 a0002c0002t0004g0097 a0002c0002t0005g0016 a0002c0002t0007g0038 a0002c0002t0008g0019 a0002c0002t0009g0027 a0002c0002t0023g0034 a0002c0002t0024g0069 a0002c0002t0027g0064 a0002c0021t0021g0047 a0003c0003t0001g0009 a0003c0003t0001g0017 a0003c0003t0001g0084 a0003c0003t0002g0020 a0003c0003t0003g0033 a0003c0003t0003g0056 a0003c0003t0003g0092 a0003c0003t0004g0005 a0003c0003t0004g0088 a0003c0003t0006g0051 a0003c0003t0009g0018 a0003c0003t0019g0060 a0007c0007t0002g0011 a0007c0007t0003g0065 a0007c0007t0022g0075 a0010c0009t0011g0078 a0010c0009t0012g0042 a0016c0012t0001g0008 a0017c0011t0012g0086 a0020c0027t0001g0080 a0021c0026t0008g0081 a0031c0020t0007g0083 a0032c0024t0001g0053 a0033c0023t0026g0082 a0034c0022t0001g0054 a0035c0025t0007g0079 a0036c0019t0015g0001 a0037c0018t0001g0004	42	102	0.4118	-291	c.109 others(19): Show c.1099-2898_1099-2608del	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	10/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54198496	TTTTTTTT others(284): Show TTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG00741.hp2 others(36): Show HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01884.hp2 HG01934.hp2 HG02027.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03710.hp2 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0002 a0003 a0009 others(11): Show a0002 a0003 a0009 a0014 a0015 a0017 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033	a0002c0002 a0002c0006 a0002c0029 others(17): Show a0002c0002 a0002c0006 a0002c0029 a0003c0003 a0003c0005 a0003c0024 a0003c0025 a0009c0013 a0009c0014 a0014c0012 a0015c0011 a0017c0033 a0026c0026 a0027c0027 a0028c0031 a0029c0030 a0030c0028 a0031c0032 a0032c0023 a0033c0022	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(22): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0006t0001 a0002c0006t0005 a0002c0029t0001 a0003c0003t0001 a0003c0003t0002 a0003c0005t0001 a0003c0024t0001 a0003c0025t0001 a0009c0013t0001 a0009c0014t0001 a0014c0012t0001 a0015c0011t0001 a0017c0033t0001 a0026c0026t0001 a0027c0027t0008 a0028c0031t0001 a0029c0030t0001 a0030c0028t0001 a0031c0032t0001 a0032c0023t0006 a0033c0022t0001	a0002c0002t0001g0034 a0002c0002t0001g0052 a0002c0002t0001g0063 others(36): Show a0002c0002t0001g0034 a0002c0002t0001g0052 a0002c0002t0001g0063 a0002c0002t0001g0085 a0002c0002t0002g0019 a0002c0002t0002g0038 a0002c0002t0002g0071 a0002c0002t0002g0089 a0002c0002t0009g0031 a0002c0002t0010g0060 a0002c0006t0001g0016 a0002c0006t0001g0059 a0002c0006t0005g0074 a0002c0029t0001g0024 a0003c0003t0001g0009 a0003c0003t0001g0017 a0003c0003t0001g0030 a0003c0003t0001g0054 a0003c0003t0001g0084 a0003c0003t0002g0005 a0003c0003t0002g0080 a0003c0005t0001g0020 a0003c0005t0001g0075 a0003c0005t0001g0076 a0003c0024t0001g0049 a0003c0025t0001g0018 a0009c0013t0001g0011 a0009c0014t0001g0069 a0014c0012t0001g0008 a0015c0011t0001g0078 a0017c0033t0001g0073 a0026c0026t0001g0056 a0027c0027t0008g0039 a0028c0031t0001g0051 a0029c0030t0001g0035 a0030c0028t0001g0044 a0031c0032t0001g0072 a0032c0023t0006g0001 a0033c0022t0001g0004	39	94	0.4149	-291	c.109 others(19): Show c.1099-2898_1099-2608del	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	10/32			chr10	TogoVar
PKP3_chr11_389209_409908	401182	GGCCCCGC others(284): Show GGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0004 a0003c0019 a0006c0035 a0001c0004 a0003c0019 a0006c0035	a0001c0004t0001 a0003c0019t0001 a0006c0035t0001 a0001c0004t0001 a0003c0019t0001 a0006c0035t0001	a0001c0004t0001g0200 a0003c0019t0001g0186 a0006c0035t0001g0185 a0001c0004t0001g0200 a0003c0019t0001g0186 a0006c0035t0001g0185	3	216	0.0139	-291	c.173 others(17): Show c.1737+489_1737+779del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHG4B_chr5_87168_194966	164457	ACAGTAAT others(284): Show ACAGTAATGTTGTGACGGAGCAGAGCTCACACTAATGCTCTGACAGGGGG CGGAGCTCACACAGTAATGCTGTGACAGGGGGCGGAGCTCACACAGTAAT GCTCTGACAGGGGGCGGAGCTCACACAGTAATGCTGTGACGGAGCGGAGC TCACAGTAATGCTGTGACGGAGCGGAGCTCACACTAATGCTCTGACGGGC GGAGCTCACACTAATACTCTGACAGGGGGCGGAGCTCACACTAATGCTCT GACGGGGCGGAGCTCACACTAATACTCTGACGGGGCGGGGCT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18906.hp1 HG02818.hp2 NA18906.hp1	a0014 a0021 a0014 a0021	a0014c0027 a0021c0026 a0014c0027 a0021c0026	a0014c0027t0049 a0021c0026t0060 a0014c0027t0049 a0021c0026t0060	a0014c0027t0049g0171 a0021c0026t0060g0169 a0014c0027t0049g0171 a0021c0026t0060g0169	2	210	0.0095	-291	c.347 others(18): Show c.3476+912_3476+1202del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRKCA_chr17_66297613_66815743	66799277	GTGGTGAT others(284): Show GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGG TGATGGTGGTGGTAGTGACGGTGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0116 a0001c0002t0037g0116	1	178	0.0056	-291	c.185 others(19): Show c.1855-4590_1855-4300del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2122484	GGTGGTTA others(284): Show GGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCA TGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTT GTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGT TGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTG TGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTG GTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	286	0.0035	-291	c.335 others(19): Show c.335-12772_335-12482del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIPK1_chr6_3063494_3120187	3093798	GCGCGCCT others(284): Show GCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCC TACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAA CCGCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGAGCGCCTACCTGC CGCACCTAGTAACTGCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGC GCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTACCTC	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	340	0.0029	-291	c.915 others(17): Show c.915+4143_915+4433del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF213_chr17_80255852_80403794	80313770	CTGGAGGT others(284): Show CTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGAT GGTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGA AGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGTGATGGTG GAGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGA GGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGG TGATGGTGGTGGTGGTGGTGATGGTGGAGGTGGTGGAGGTAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp1 HG01884.hp2 HG03130.hp1	a0010 a0089 a0010 a0089	a0010c0138 a0089c0115 a0010c0138 a0089c0115	a0010c0138t0012 a0089c0115t0006 a0010c0138t0012 a0089c0115t0006	a0010c0138t0012g0005 a0089c0115t0006g0035 a0010c0138t0012g0005 a0089c0115t0006g0035	2	292	0.0069	-291	c.281 others(17): Show c.2811+624_2811+914del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRP12_chr10_97351701_97406340	97398062	TTTTGAGA others(284): Show TTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02258.hp1 HG01255.hp2 HG02258.hp1	a0001 a0003 a0001 a0003	a0001c0011 a0003c0002 a0001c0011 a0003c0002	a0001c0011t0001 a0003c0002t0001 a0001c0011t0001 a0003c0002t0001	a0001c0011t0001g0208 a0003c0002t0001g0270 a0001c0011t0001g0208 a0003c0002t0001g0270	2	400	0.0050	-291	c.369 others(17): Show c.369+1952_370-1762del	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
SCNN1D_chr1_1275436_1297025	1289691	CCGTGTCT others(284): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0008 a0014c0021t0008	a0014c0021t0008g0271 a0014c0021t0008g0271	1	290	0.0035	-291	c.166 others(17): Show c.1663-578_1663-288del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SIGIRR_chr11_400716_419999	401182	GGCCCCGC others(284): Show GGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 NA19240.hp2 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0235 a0001c0001t0002g0036 a0001c0001t0001g0235 a0001c0001t0002g0036	2	242	0.0083	-291	c.44 others(11): Show c.4423_*4713del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4533		chr11	TogoVar
TAFA4_chr3_68726766_68937547	68841053	GAATAAAA others(284): Show GAATAAAATCCATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGCGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAATAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp1 others(68): Show HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01074.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02145.hp2 HG02280.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03225.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18747.hp2 NA18940.hp2 NA18944.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18962.hp1 NA18993.hp2 NA18995.hp1 NA19000.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19080.hp1 NA19091.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(68): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0212 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0257 a0001c0001t0002g0105 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0003g0036 a0001c0001t0003g0157 a0001c0001t0003g0182 a0001c0001t0003g0222 a0001c0001t0003g0269 a0001c0001t0004g0123 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0211 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0007g0011 a0001c0001t0007g0013 a0001c0001t0007g0304 a0001c0001t0007g0309 a0001c0001t0007g0312 a0001c0001t0009g0172 a0001c0001t0009g0173 a0001c0001t0009g0240 a0001c0001t0010g0012 a0001c0001t0010g0289 a0001c0001t0010g0290 a0001c0001t0017g0023 a0001c0001t0025g0020 a0001c0001t0026g0283 a0001c0001t0030g0313	71	316	0.2247	-291	c.130 others(19): Show c.130+39386_130+39676del	TAFA4	ENSG00000163377.16	transcript	ENST00000295569.12	protein_coding	3/5			chr3	TogoVar
TRPS1_chr8_115403496_115673975	115440447	GTCATCAG others(284): Show GTCATCAGGAAAAGGTGCCTGTAAGTTGTAACAGGACCATGTGGGTCTTA CATTCTTCTTTTTGATACAGCTAATATCCTCATGTCCCAGTGAAAGGACA GCAGCCTCTGTAAAATATCTAACTCCTAAAAATATAGATGTTTACATTTC TATAATGGAAAATGTCCTGGTGTTTCCTTGCCAAGGTTTCAGCAATAAGT CTTATAATAAGTTTGTGTTGCTCTCCTTTCTTTTTATAAAATACAAAATA CATTACAGAATAAAGATTCAAAGGCATTTGCAGAGTATATAC	G G	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19070.hp1 NA19065.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0076 a0001c0001t0002 a0001c0001t0076	a0001c0001t0002g0127 a0001c0001t0076g0126 a0001c0001t0002g0127 a0001c0001t0076g0126	2	192	0.0104	-291	c.270 others(21): Show c.2701-22286_2701-21996del	TRPS1	ENSG00000104447.13	transcript	ENST00000395715.8	protein_coding	5/6			chr8	TogoVar
TUBGCP2_chr10_133273635_133313872	133291545	GTGTCCCC others(284): Show GTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTA CGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCC CCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAG AGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGT CCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCA GCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0001 a0007c0021t0001	a0007c0021t0001g0157 a0007c0021t0001g0157	1	284	0.0035	-291	c.121 others(17): Show c.1214+663_1214+953del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZNF516_chr18_76352682_76500242	76392913	CAGGTGGT others(284): Show CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0013 a0001c0011t0013	a0001c0011t0013g0208 a0001c0011t0013g0208	1	346	0.0029	-291	c.181 others(21): Show c.1811-12901_1811-12611del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADAMTSL1_chr9_18469153_18915950	18751828	TAGAAATA others(283): Show TAGAAATACAACTTGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CGGGAGATCGAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(171): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19074.hp1 NA19074.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029	a0001c0002 a0001c0003 a0001c0005 others(72): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0021 a0001c0023 a0001c0024 a0001c0026 a0001c0027 a0001c0039 a0001c0040 a0001c0049 a0001c0051 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0069 a0001c0070 a0001c0080 a0002c0001 a0002c0004 a0002c0016 a0002c0018 a0002c0034 a0002c0036 a0002c0043 a0002c0045 a0002c0047 a0002c0053 a0002c0064 a0002c0074 a0002c0079 a0003c0011 a0003c0012 a0003c0019 a0003c0020 a0004c0009 a0004c0015 a0004c0048 a0004c0075 a0005c0013 a0005c0059 a0005c0060 a0006c0014 a0006c0061 a0006c0073 a0007c0022 a0007c0050 a0007c0071 a0007c0077 a0008c0017 a0010c0029 a0011c0058 a0012c0031 a0013c0072 a0014c0046 a0015c0062 a0016c0063 a0017c0065 a0018c0066 a0019c0067 a0020c0076 a0021c0052 a0022c0041 a0023c0038 a0024c0044 a0025c0033 a0026c0032 a0027c0028 a0028c0082 a0029c0081	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(121): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0011 a0001c0002t0030 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0013 a0001c0003t0015 a0001c0003t0029 a0001c0003t0032 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0005t0014 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0005 a0001c0006t0011 a0001c0007t0001 a0001c0007t0004 a0001c0007t0031 a0001c0008t0002 a0001c0008t0004 a0001c0010t0001 a0001c0010t0002 a0001c0010t0004 a0001c0021t0001 a0001c0023t0003 a0001c0024t0001 a0001c0026t0005 a0001c0027t0001 a0001c0039t0001 a0001c0040t0003 a0001c0049t0001 a0001c0051t0005 a0001c0054t0004 a0001c0055t0002 a0001c0056t0003 a0001c0057t0002 a0001c0069t0004 a0001c0070t0002 a0001c0080t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0023 a0002c0001t0028 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0004t0008 a0002c0016t0002 a0002c0016t0006 a0002c0018t0003 a0002c0018t0004 a0002c0034t0003 a0002c0036t0001 a0002c0043t0002 a0002c0045t0007 a0002c0047t0026 a0002c0053t0003 a0002c0064t0006 a0002c0074t0003 a0002c0079t0003 a0003c0011t0001 a0003c0011t0002 a0003c0011t0007 a0003c0011t0021 a0003c0012t0001 a0003c0019t0001 a0003c0019t0002 a0003c0019t0006 a0003c0020t0001 a0003c0020t0002 a0004c0009t0002 a0004c0009t0003 a0004c0009t0009 a0004c0015t0002 a0004c0015t0004 a0004c0015t0025 a0004c0048t0004 a0004c0075t0002 a0005c0013t0003 a0005c0013t0010 a0005c0013t0019 a0005c0059t0013 a0005c0060t0001 a0006c0014t0003 a0006c0061t0004 a0006c0073t0008 a0007c0022t0001 a0007c0022t0002 a0007c0050t0002 a0007c0071t0002 a0007c0077t0001 a0008c0017t0004 a0008c0017t0020 a0010c0029t0035 a0011c0058t0001 a0012c0031t0003 a0013c0072t0002 a0014c0046t0002 a0015c0062t0002 a0016c0063t0017 a0017c0065t0034 a0018c0066t0001 a0019c0067t0002 a0020c0076t0027 a0021c0052t0002 a0022c0041t0033 a0023c0038t0016 a0024c0044t0014 a0025c0033t0024 a0026c0032t0004 a0027c0028t0010 a0028c0082t0004 a0029c0081t0003	a0001c0002t0001g0076 a0001c0002t0001g0092 a0001c0002t0001g0125 others(171): Show a0001c0002t0001g0076 a0001c0002t0001g0092 a0001c0002t0001g0125 a0001c0002t0002g0061 a0001c0002t0002g0064 a0001c0002t0002g0108 a0001c0002t0002g0128 a0001c0002t0002g0131 a0001c0002t0003g0156 a0001c0002t0004g0063 a0001c0002t0004g0080 a0001c0002t0004g0085 a0001c0002t0008g0089 a0001c0002t0011g0153 a0001c0002t0030g0083 a0001c0003t0001g0146 a0001c0003t0001g0173 a0001c0003t0001g0181 a0001c0003t0001g0196 a0001c0003t0002g0116 a0001c0003t0002g0126 a0001c0003t0002g0182 a0001c0003t0003g0015 a0001c0003t0003g0121 a0001c0003t0003g0164 a0001c0003t0013g0212 a0001c0003t0015g0191 a0001c0003t0029g0025 a0001c0003t0032g0199 a0001c0005t0002g0009 a0001c0005t0002g0022 a0001c0005t0002g0118 a0001c0005t0002g0149 a0001c0005t0002g0187 a0001c0005t0002g0216 a0001c0005t0003g0011 a0001c0005t0004g0020 a0001c0005t0004g0167 a0001c0005t0014g0018 a0001c0006t0001g0039 a0001c0006t0001g0074 a0001c0006t0001g0081 a0001c0006t0001g0084 a0001c0006t0002g0062 a0001c0006t0002g0154 a0001c0006t0003g0129 a0001c0006t0005g0046 a0001c0006t0011g0047 a0001c0007t0001g0172 a0001c0007t0001g0188 a0001c0007t0004g0017 a0001c0007t0004g0171 a0001c0007t0031g0140 a0001c0008t0002g0035 a0001c0008t0002g0069 a0001c0008t0002g0070 a0001c0008t0004g0127 a0001c0008t0004g0133 a0001c0008t0004g0134 a0001c0010t0001g0060 a0001c0010t0001g0078 a0001c0010t0001g0093 a0001c0010t0002g0067 a0001c0010t0004g0150 a0001c0021t0001g0161 a0001c0021t0001g0162 a0001c0023t0003g0186 a0001c0024t0001g0137 a0001c0024t0001g0174 a0001c0026t0005g0097 a0001c0027t0001g0033 a0001c0027t0001g0111 a0001c0039t0001g0206 a0001c0040t0003g0024 a0001c0049t0001g0148 a0001c0051t0005g0189 a0001c0054t0004g0119 a0001c0055t0002g0209 a0001c0056t0003g0006 a0001c0057t0002g0001 a0001c0069t0004g0054 a0001c0070t0002g0152 a0001c0080t0002g0004 a0002c0001t0001g0023 a0002c0001t0001g0160 a0002c0001t0001g0177 a0002c0001t0001g0185 a0002c0001t0001g0195 a0002c0001t0002g0190 a0002c0001t0002g0200 a0002c0001t0002g0203 a0002c0001t0003g0217 a0002c0001t0004g0038 a0002c0001t0023g0016 a0002c0001t0028g0028 a0002c0004t0001g0057 a0002c0004t0001g0099 a0002c0004t0001g0179 a0002c0004t0002g0050 a0002c0004t0003g0110 a0002c0004t0006g0082 a0002c0004t0006g0113 a0002c0004t0008g0091 a0002c0016t0002g0151 a0002c0016t0002g0163 a0002c0016t0006g0193 a0002c0018t0003g0086 a0002c0018t0004g0059 a0002c0034t0003g0122 a0002c0036t0001g0136 a0002c0043t0002g0159 a0002c0045t0007g0014 a0002c0047t0026g0115 a0002c0053t0003g0120 a0002c0064t0006g0077 a0002c0074t0003g0034 a0002c0079t0003g0021 a0003c0011t0001g0114 a0003c0011t0002g0166 a0003c0011t0007g0183 a0003c0011t0021g0204 a0003c0012t0001g0087 a0003c0012t0001g0100 a0003c0012t0001g0180 a0003c0019t0001g0135 a0003c0019t0002g0090 a0003c0019t0006g0143 a0003c0020t0001g0205 a0003c0020t0002g0197 a0004c0009t0002g0030 a0004c0009t0002g0218 a0004c0009t0003g0101 a0004c0009t0009g0102 a0004c0015t0002g0201 a0004c0015t0004g0138 a0004c0015t0025g0037 a0004c0048t0004g0141 a0004c0075t0002g0031 a0005c0013t0003g0117 a0005c0013t0010g0008 a0005c0013t0019g0158 a0005c0059t0013g0019 a0005c0060t0001g0048 a0006c0014t0003g0026 a0006c0014t0003g0027 a0006c0061t0004g0095 a0006c0073t0008g0071 a0007c0022t0001g0169 a0007c0022t0002g0109 a0007c0050t0002g0198 a0007c0071t0002g0104 a0007c0077t0001g0032 a0008c0017t0004g0157 a0008c0017t0020g0073 a0010c0029t0035g0142 a0011c0058t0001g0068 a0012c0031t0003g0005 a0013c0072t0002g0040 a0014c0046t0002g0202 a0015c0062t0002g0088 a0016c0063t0017g0106 a0017c0065t0034g0132 a0018c0066t0001g0053 a0019c0067t0002g0079 a0020c0076t0027g0072 a0021c0052t0002g0139 a0022c0041t0033g0013 a0023c0038t0016g0207 a0024c0044t0014g0123 a0025c0033t0024g0165 a0026c0032t0004g0105 a0027c0028t0010g0007 a0028c0082t0004g0003 a0029c0081t0003g0002	174	218	0.7982	-290	c.200 others(19): Show c.2007-1453_2007-1164del	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	15/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ALDH16A1_chr19_49448225_49476050	49462983	GGGGCCTG others(283): Show GGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGTGCTGGGGCCCGGATTCCTGGGTCTGAGGGAGG AGGGGCTGGGGCCCGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTC CAGACTCCTGGGTCTGAGGGAGGAGGGGCTGGCGGCCTGGACTCCTGGGT CTGAGGGAGGAGAGGCTGGGGGTCCAGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0079 a0001c0001t0011g0079	1	342	0.0029	-290	c.109 others(17): Show c.1098+260_1098+549del	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
AP3B1_chr5_77997326_78299698	78278342	AGGGGACT others(283): Show AGGGGACTAATTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show HG00558.hp1 HG00642.hp1 HG00642.hp2 HG01168.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp2 HG01934.hp2 HG01981.hp2 HG02004.hp1 HG02071.hp1 HG02135.hp2 HG02280.hp2 HG02523.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG04228.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18970.hp2 NA18979.hp2 NA18982.hp2 NA19063.hp2 NA19068.hp1 NA19081.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0002c0003 a0007c0014	a0001c0001t0001 a0001c0004t0002 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0004t0002 a0001c0006t0001 a0002c0003t0001 a0007c0014t0002	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(27): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0004t0002g0185 a0001c0006t0001g0223 a0002c0003t0001g0218 a0002c0003t0001g0219 a0007c0014t0002g0196	30	226	0.1327	-290	c.129 others(19): Show c.129-11037_129-10748del	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	1/26			chr5	TogoVar

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Search Results (Total: 10000 hits)