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
MAP3K15_chrX_19355059_19520508	19452208	GAGAAGAG others(171): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGA AGAGAAGAGAAGAGAAGAGAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	163	0.0061	-178	c.995 others(17): Show c.995+4527_995+4704del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAST2_chr1_45798612_46041122	45885028	CACAAAAC others(171): Show CACAAAACAAATATTTGAATAAGTTTAATTACTACAAAATTTGTTGTGTG GAAAAACTGATGTTAATAAAATGAGTGACTTACCATTTGCTCCACTGTTT CTCGTCCTCATAGCCTGATCTGGAAAATTTTTAAAGTTTCTATAATTGTC ATTTAAGTCTTGGTCAGAAGGAGGGGGCA	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0281 a0005c0005t0001g0281	1	288	0.0035	-178	c.500 others(17): Show c.500+2634_500+2811del	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28			chr1	TogoVar
METTL24_chr6_110238940_110363349	110302439	GTATATAT others(171): Show GTATATATACACATATACACACATATGTGTATATATACACATATACACAC ATATGTGTATATATACACATATACACACACATATGTGTATATATACACAT ATACACACACATATGTGTATATATACACACATACACACACATATGTGTAT ATATACACATATACACACACATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp2 HG02886.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0183 a0001c0001t0012g0221 a0001c0001t0002g0183 a0001c0001t0012g0221	2	268	0.0075	-178	c.558 others(17): Show c.558-3467_558-3290del	METTL24	ENSG00000053328.9	transcript	ENST00000338882.5	protein_coding	3/4			chr6	TogoVar
MRPS25_chr3_15043512_15070315	15062313	GGGGGCGC others(171): Show GGGGGCGCCTCTGCCCGGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCTG CCCGGCCAGCCGCCCCGTCCAGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	368	0.0027	-178	c.134 others(17): Show c.134+2570_134+2747del	MRPS25	ENSG00000131368.9	transcript	ENST00000253686.7	protein_coding	1/3			chr3	TogoVar
NDC80_chr18_2566557_2621635	2614479	GAAAGGAA others(171): Show GAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG00642.hp2 others(27): Show HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01175.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02040.hp1 HG02135.hp1 HG02148.hp1 HG02602.hp1 HG03834.hp1 NA18942.hp2 NA18953.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18966.hp1 NA18983.hp1 NA18998.hp1 NA19007.hp2 NA19055.hp1 NA19088.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0303 a0003c0003t0001g0003 a0003c0003t0001g0079 others(26): Show a0001c0001t0001g0303 a0003c0003t0001g0003 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0001g0249 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0269	30	402	0.0746	-178	c.179 others(19): Show c.1792-1954_1792-1777del	NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
NDUFAF1_chr15_41382353_41407496	41383301	CCCTACTG others(171): Show CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(22): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01975.hp1 HG02300.hp1 HG02602.hp1 HG03491.hp2 HG03492.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp1 NA19060.hp1 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0003 a0002c0003t0008 a0002c0003t0001 a0002c0003t0003 a0002c0003t0008	a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0032 others(19): Show a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0149 a0002c0003t0001g0151 a0002c0003t0003g0027 a0002c0003t0003g0282 a0002c0003t0003g0283 a0002c0003t0003g0284 a0002c0003t0003g0285 a0002c0003t0003g0286 a0002c0003t0008g0281	25	354	0.0706	-178	c.39 others(11): Show c.3965_*4142del	NDUFAF1	ENSG00000137806.10	transcript	ENST00000260361.9	protein_coding		4051		chr15	TogoVar
NEU4_chr2_241804193_241822413	241805903	TCCCCCCT others(171): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	-178	c.-33 others(11): Show c.-3374_-3197del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3289		chr2	TogoVar
NME7_chr1_169127531_169372797	169342671	ATATATAT others(171): Show ATATATATACAAGTACATATATATAGTATATATATATACAAGTACATATA TATATAGTATATATATATACAAGTACATATATATAGTATATATATATACA AGTACATATATATATAGTATATATATATACAAGTACATATATATATAGTA TATATATATACAAGTACATATATATATAG	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	302	0.0033	-178	c.4-1 others(15): Show c.4-18349_4-18172del	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NUSAP1_chr15_41327881_41386046	41383301	CCCTACTG others(171): Show CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(22): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01975.hp1 HG02300.hp1 HG02602.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp2 NA19060.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0002 a0002c0003t0005 others(1): Show a0002c0002t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0007	a0002c0002t0001g0201 a0002c0003t0002g0202 a0002c0003t0002g0205 others(22): Show a0002c0002t0001g0201 a0002c0003t0002g0202 a0002c0003t0002g0205 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0003t0002g0227 a0002c0003t0002g0228 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0002g0232 a0002c0003t0002g0233 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0005g0013 a0002c0003t0005g0231 a0002c0003t0007g0219	25	292	0.0856	-178	c.31 others(11): Show c.3116_*3293del	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding		2256		chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510863	TGTATATC others(171): Show TGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATGTA TATCTATATGTAACATATATGTATATCTATATGTAACATATATGTATATC TATATGTAACATATGTATATCTATATGTAACATATGTATATCTATATGTA ACATACATGTATATCTATATGTAACATAC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03098.hp2 HG03139.hp1 HG01981.hp1 HG03098.hp2 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0011 a0003c0010 a0003c0022 a0001c0011 a0003c0010 a0003c0022	a0001c0011t0098 a0003c0010t0076 a0003c0022t0052 a0001c0011t0098 a0003c0010t0076 a0003c0022t0052	a0001c0011t0098g0207 a0003c0010t0076g0105 a0003c0022t0052g0089 a0001c0011t0098g0207 a0003c0010t0076g0105 a0003c0022t0052g0089	3	244	0.0123	-178	c.894 others(17): Show c.894-7223_894-7046del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PARD3B_chr2_204540475_205625162	204998326	ATATATAT others(171): Show ATATATATATATATATATATATATATATATATATGTGTGTGTGTGTGTGT ATATATGTGTGTGTATATATGTATATATGTGTATATATATGTATATATGT GTATATATATGTGTGTGTATATATATGTGTATATTATATATGTATATATA TGTGTATATAATATATGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0002 a0003c0018t0002	a0003c0018t0002g0038 a0003c0018t0002g0038	1	54	0.0185	-178	c.394 others(19): Show c.394+33015_394+33192del	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARVB_chr22_44019302_44177939	44115298	GTTACTAA others(171): Show GTTACTAACTAAGGCCCTGCACCAGAACGGATACATTGTTACTAAGTAAG GCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTACAGCAAC ACAGATACATTGTTATTAACTAAGGCCCTGCACCAACACAGATACATTGT TACTAAGTAAGGCCCTGCACCAACACAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(73): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01167.hp2 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03130.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19010.hp1 NA19043.hp2 NA19065.hp2 NA19074.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19240.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0002c0003 a0003c0034 a0005c0014 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0015 a0001c0002t0017 a0001c0002t0021 a0001c0002t0040 a0001c0004t0001 a0001c0004t0005 a0001c0015t0029 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0014 a0002c0003t0017 a0002c0003t0032 a0002c0003t0079 a0003c0034t0036 a0005c0014t0083 a0011c0010t0031	a0001c0001t0001g0005 a0001c0001t0001g0096 a0001c0001t0001g0248 others(73): Show a0001c0001t0001g0005 a0001c0001t0001g0096 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0273 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0002g0216 a0001c0001t0002g0228 a0001c0001t0002g0256 a0001c0001t0002g0272 a0001c0001t0002g0290 a0001c0001t0002g0310 a0001c0001t0003g0144 a0001c0001t0004g0236 a0001c0001t0004g0241 a0001c0001t0004g0269 a0001c0001t0004g0293 a0001c0001t0004g0300 a0001c0001t0005g0058 a0001c0001t0005g0227 a0001c0001t0005g0257 a0001c0001t0005g0268 a0001c0001t0005g0306 a0001c0001t0006g0187 a0001c0001t0007g0221 a0001c0001t0007g0303 a0001c0001t0008g0013 a0001c0001t0008g0231 a0001c0001t0008g0259 a0001c0001t0011g0288 a0001c0001t0011g0296 a0001c0001t0012g0037 a0001c0001t0014g0109 a0001c0001t0016g0185 a0001c0001t0016g0188 a0001c0001t0017g0081 a0001c0001t0023g0205 a0001c0001t0024g0181 a0001c0001t0026g0313 a0001c0001t0074g0132 a0001c0001t0076g0261 a0001c0001t0077g0307 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0055 a0001c0002t0001g0123 a0001c0002t0001g0224 a0001c0002t0001g0251 a0001c0002t0006g0168 a0001c0002t0007g0002 a0001c0002t0009g0191 a0001c0002t0015g0327 a0001c0002t0017g0278 a0001c0002t0021g0092 a0001c0002t0040g0189 a0001c0004t0001g0097 a0001c0004t0001g0180 a0001c0004t0001g0289 a0001c0004t0005g0098 a0001c0015t0029g0139 a0002c0003t0001g0047 a0002c0003t0001g0240 a0002c0003t0003g0038 a0002c0003t0006g0112 a0002c0003t0012g0040 a0002c0003t0012g0041 a0002c0003t0014g0046 a0002c0003t0017g0242 a0002c0003t0032g0152 a0002c0003t0079g0044 a0003c0034t0036g0325 a0005c0014t0083g0197 a0011c0010t0031g0179	76	332	0.2289	-178	c.274 others(17): Show c.274-3738_274-3561del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PCSK6_chr15_101298933_101494707	101311911	CCCCTCAC others(171): Show CCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC ACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0016 a0001c0039t0016	a0001c0039t0016g0118 a0001c0039t0016g0118	1	336	0.0030	-178	c.269 others(19): Show c.2699+1287_2699+1464del	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PHF2_chr9_93571584_93684587	93671422	ACAGGTGT others(171): Show ACAGGTGTAGATGCAGGTGGGTGTGGATGTAGGTACAGGTGTAGATGCAG ATGTGGGTGTGGGAGTAGGTACAGGTGTAGATGCAGGTGTGGGTGTGGAT GTAGGTACAGGTGTAGATGCAGATGTGGGTGTGGGAGTAGGGTCAGGTGT AGATGCAGATGTGGGTGTGGGAGTAGGGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02145.hp2 others(7): Show HG01243.hp1 HG01891.hp2 HG02145.hp2 HG02257.hp1 HG02572.hp1 HG02723.hp2 HG02965.hp1 HG03041.hp2 HG03209.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0007 a0006c0025 a0001c0001 a0001c0007 a0006c0025	a0001c0001t0001 a0001c0007t0001 a0001c0007t0012 others(1): Show a0001c0001t0001 a0001c0007t0001 a0001c0007t0012 a0006c0025t0019	a0001c0001t0001g0146 a0001c0001t0001g0276 a0001c0001t0001g0289 others(7): Show a0001c0001t0001g0146 a0001c0001t0001g0276 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0007t0001g0298 a0001c0007t0001g0336 a0001c0007t0012g0321 a0001c0007t0012g0331 a0006c0025t0019g0281	10	350	0.0286	-178	c.234 others(19): Show c.2349-2144_2349-1967del	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PJA2_chr5_109329722_109414974	109342542	ACCCGGCC others(171): Show ACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGTGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGAGTCAGCCCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	346	0.0029	-178	c.200 others(19): Show c.2001+1470_2001+1647del	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKP3_chr11_389209_409908	401738	CGACCCCG others(171): Show CGACCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGAC CCCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCA CTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGC CCCGCTCACCCCCGGCTCCACTGACCCCG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA20752.hp2 HG06807.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0074 a0001c0001t0001g0081	2	216	0.0093	-178	c.173 others(19): Show c.1737+1035_1738-1161del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLG_chr15_89311320_89339824	89325085	AGAGTGAG others(171): Show AGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAG TGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAG AGAGTGAGTGAGTGAGAGAGAGAGTGAGT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0083 a0001c0006t0001g0083	1	398	0.0025	-178	c.194 others(17): Show c.1949+187_1949+364del	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POR_chr7_75910155_75991855	75988704	GGTGGAGG others(171): Show GGTGGAGGGGAAGGCCGGGTGGGGGGCTGGAGGGGAAGGCCAGGTGGGGG GCTGGAGGGGAAGAAGGCCGGGTGGGGGGCTGGAGGGGAAGGCCGGGTGG GGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGG GGGTGTGGAGGGGAAGGCCGGGTGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0210 a0001c0004t0001g0218 a0001c0004t0001g0210 a0001c0004t0001g0218	2	278	0.0072	-178	c.22 others(11): Show c.2224_*2401del	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1850		chr7	TogoVar
PPP1R9A_chr7_94902594_95301400	95072690	TTATGTAA others(171): Show TTATGTAATATAATATATAATATATTATATGTATATTTATTACATATAAT ATAATATATAATATTATATTAAATATATATATTAAATATATATATTTATA TATTATATTTATAATTATTATATATAATAATTATTATATATATAATAATT ATTATATATAATATAAGTTATATAATATA	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0106 a0003c0003t0001g0106	1	290	0.0035	-178	c.139 others(21): Show c.1396-38568_1396-38391del	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19			chr7	TogoVar
PPP2R5C_chr14_101756709_101932977	101782432	ATTCCCCT others(171): Show ATTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCGCTCC CTCTCCCCCTTCCCCTCCCTCTCTTTCCTCTTTCTCTCTCCCCCTCCCCC TCCCTCTCTCCTCCCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCT TTCTCCCCATTCCCCTCCCTCTCTCCCCC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	138	0.0073	-178	c.94- others(15): Show c.94-3551_94-3374del	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRDM15_chr21_41793225_41884344	41806445	CCACCACC others(171): Show CCACCACCCATCACCATCACCACCAGCACCACCCATTACTACCACCACCA TCACCACCATCACCATCACCACCACCATCACCACCACCATCACTACCACC AACATCACCACCATCACCATCACCATACCACCACCATCACCACCACCACC ATTACTACCACCACCATCATCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0077 a0001c0003t0029g0077	1	406	0.0025	-178	c.265 others(19): Show c.2653-2009_2653-1832del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRKD1_chr14_29571479_29932847	29826283	TATATATA others(171): Show TATATATATACATATATATGATGGAATATATATATACATATATATGATGG AATATATATATACATATATATGATGGAATATATATATACATATATATGAT GGAATATATATATACATATATATGATGGAATATATATATACATATATGAT GGAATATATATATACATATATATGATGGA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01884.hp2 HG02055.hp2 others(25): Show HG00408.hp2 HG01884.hp2 HG02055.hp2 HG02074.hp2 HG02145.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG03579.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18947.hp1 NA18964.hp1 NA18965.hp2 NA18978.hp2 NA18987.hp1 NA19001.hp2 NA19011.hp2 NA19063.hp2 NA19066.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0003c0006 a0003c0017 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0015t0001 a0003c0006t0001 a0003c0017t0001 a0008c0011t0002	a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0031 others(25): Show a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0002g0079 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0004g0150 a0001c0001t0007g0010 a0001c0001t0010g0011 a0001c0002t0001g0032 a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0003g0147 a0001c0002t0007g0009 a0001c0003t0001g0073 a0001c0003t0002g0075 a0001c0003t0012g0137 a0001c0015t0001g0092 a0003c0006t0001g0021 a0003c0006t0001g0024 a0003c0006t0001g0052 a0003c0017t0001g0063 a0008c0011t0002g0022	28	156	0.1795	-178	c.265 others(21): Show c.265-100787_265-100610del	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PSPC1_chr13_19697500_19787945	19779968	GGCCCCCC others(171): Show GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGATCA	G G	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18986.hp2 NA19011.hp1 others(2): Show NA18961.hp2 NA18986.hp2 NA19011.hp1 NA19063.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(2): Show a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0254	5	258	0.0194	-178	c.372 others(17): Show c.372+2240_372+2417del	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
RASGEF1C_chr5_180095795_180214211	180190427	TTGCAGTG others(171): Show TTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGACTGGGTGACAGAGT GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATAATAATAATAATAATAA TAATTAGCCAGGCACGGTGGTACATGCCTGTGGCCCCAACTACTTGGGGG GCTGTAGTAGGAGAATTGCTGAGCAAGGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(49): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG01074.hp1 HG01109.hp2 HG01934.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02132.hp2 HG02135.hp1 HG02523.hp2 HG02735.hp2 HG03654.hp1 HG04115.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18959.hp1 NA18964.hp2 NA18977.hp2 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19010.hp1 NA19012.hp1 NA19057.hp2 NA19066.hp1 NA19070.hp1 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0029 a0001c0001t0062 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0020 a0001c0002t0023 a0001c0002t0026 a0001c0003t0005 a0001c0003t0012 a0001c0003t0059 a0001c0003t0069 a0001c0004t0005 a0001c0004t0010 a0001c0006t0001	a0001c0001t0001g0184 a0001c0001t0001g0270 a0001c0001t0001g0293 others(49): Show a0001c0001t0001g0184 a0001c0001t0001g0270 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0314 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0002g0134 a0001c0001t0003g0260 a0001c0001t0004g0312 a0001c0001t0007g0163 a0001c0001t0007g0166 a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0009g0068 a0001c0001t0009g0074 a0001c0001t0009g0075 a0001c0001t0011g0095 a0001c0001t0011g0097 a0001c0001t0019g0069 a0001c0001t0019g0070 a0001c0001t0019g0078 a0001c0001t0029g0229 a0001c0001t0062g0066 a0001c0001t0064g0076 a0001c0001t0066g0093 a0001c0001t0067g0096 a0001c0002t0001g0176 a0001c0002t0001g0272 a0001c0002t0002g0140 a0001c0002t0003g0268 a0001c0002t0004g0263 a0001c0002t0004g0271 a0001c0002t0004g0304 a0001c0002t0004g0305 a0001c0002t0009g0064 a0001c0002t0009g0067 a0001c0002t0009g0071 a0001c0002t0020g0094 a0001c0002t0023g0349 a0001c0002t0026g0077 a0001c0003t0005g0269 a0001c0003t0005g0300 a0001c0003t0012g0329 a0001c0003t0012g0330 a0001c0003t0012g0335 a0001c0003t0059g0084 a0001c0003t0069g0099 a0001c0004t0005g0208 a0001c0004t0010g0155 a0001c0006t0001g0337	52	370	0.1405	-178	c.-7+ others(17): Show c.-7+18423_-7+18600del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	1/13			chr5	TogoVar
RBM19_chr12_113817057_113971325	113872748	GGGGGGGG others(171): Show GGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0072 a0003c0002t0001g0072	1	356	0.0028	-178	c.255 others(21): Show c.2559-14030_2559-13853del	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RGPD8_chr2_112363369_112438645	112432885	TCCGCCTC others(171): Show TCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCTCGGGAGCCATGACC CCTGACCCATCGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCTCAAC AGAGCGCGCCAGGGAGCAGCGCCCTCGGGAGCCATGACCCCTGACCCATC GAGGCCGCCCCCGGGCCGGGTCGAGGCCG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00741.hp2 others(33): Show HG00438.hp1 HG00544.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01106.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01928.hp2 HG02056.hp1 HG02132.hp1 HG02165.hp1 HG02486.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03139.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG04204.hp1 NA18939.hp2 NA18956.hp2 NA19043.hp2 NA19068.hp1 NA19076.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0014 others(8): Show a0001 a0002 a0014 a0017 a0018 a0020 a0031 a0032 a0033 a0037 a0039	a0001c0001 a0001c0004 a0002c0002 others(10): Show a0001c0001 a0001c0004 a0002c0002 a0002c0012 a0014c0018 a0017c0047 a0018c0046 a0020c0039 a0031c0043 a0032c0040 a0033c0041 a0037c0045 a0039c0021	a0001c0001t0003 a0001c0001t0008 a0001c0004t0005 others(12): Show a0001c0001t0003 a0001c0001t0008 a0001c0004t0005 a0002c0002t0001 a0002c0012t0001 a0014c0018t0023 a0014c0018t0027 a0017c0047t0001 a0018c0046t0002 a0020c0039t0001 a0031c0043t0001 a0032c0040t0001 a0033c0041t0001 a0037c0045t0026 a0039c0021t0001	a0001c0001t0003g0126 a0001c0001t0008g0125 a0001c0004t0005g0128 others(33): Show a0001c0001t0003g0126 a0001c0001t0008g0125 a0001c0004t0005g0128 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0127 a0002c0012t0001g0105 a0002c0012t0001g0106 a0014c0018t0023g0124 a0014c0018t0027g0100 a0017c0047t0001g0114 a0018c0046t0002g0101 a0020c0039t0001g0097 a0031c0043t0001g0102 a0032c0040t0001g0129 a0033c0041t0001g0117 a0037c0045t0026g0116 a0039c0021t0001g0005	36	254	0.1417	-178	c.72+ others(13): Show c.72+319_72+496del	RGPD8	ENSG00000169629.12	transcript	ENST00000302558.8	protein_coding	1/22			chr2	TogoVar
RNF223_chr1_1065967_1079306	1076320	CTGAGGCT others(171): Show CTGAGGCTACGGGGACTCCGTGCTGGGAGGCTGAGGCTATGGGGACTCCG TCGGGGGAGGCTGAGTCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTAT GGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGCAGGC TGAGGCTATGGTGACTCCGTGCAGGGCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0012	1	324	0.0031	-178	c.-24 others(11): Show c.-2492_-2315del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2015		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076359	TGGGGACT others(171): Show TGGGGACTCCGTCGGGGGAGGCTGAGTCTATGGGGACTCCGTGGGGGGAG GCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCC GTGGGGCAGGCTGAGGCTATGGTGACTCCGTGCAGGGCTGTGAGGCTACG GGGACTCCGTGGGGGGTGGCTGAGGCTAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	-178	c.-25 others(11): Show c.-2531_-2354del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2054		chr1	TogoVar
RPS6KA6_chrX_84053350_84193199	84191563	TATATATA others(171): Show TATATATATATCCATATATATATATATCCATATATATATCCATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATCCATATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03579.hp1 HG03041.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0085 a0001c0001t0018 a0001c0001t0085	a0001c0001t0018g0088 a0001c0001t0085g0086 a0001c0001t0018g0088 a0001c0001t0085g0086	2	272	0.0074	-178	c.-38 others(11): Show c.-3842_-3665del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3365		chrX	TogoVar
SARDH_chr9_133658560_133743352	133668970	TTCCCTCT others(171): Show TTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCC TCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTC CATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCC CTCTCTCTCTCCTTCCCTCTCCCTTACCC	T T	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	262	0.0038	-178	c.249 others(19): Show c.2495+1436_2495+1613del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBF2_chr11_9773668_10299219	10175892	CAACCGGC others(171): Show CAACCGGCTCCTGAATGACTACTGGGTGCATAACGAAATGAAGGCAGAAA TAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACAACATACCAGAAT CTCTGGGACACATTCAAAGCATTGTGTAGAGGGAAATTTATAGCACTAAA TGCCCACAAGAGAAAGCAGGAAAGATCCA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp1 others(48): Show HG00280.hp2 HG00323.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03490.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03942.hp2 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA19082.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0004 a0005c0006 a0006c0009 a0007c0008 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0003t0004 a0001c0005t0001 a0001c0005t0009 a0002c0002t0001 a0002c0002t0004 a0003c0004t0003 a0005c0006t0002 a0006c0009t0001 a0007c0008t0005 a0009c0014t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0054 others(48): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0190 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0189 a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0004g0053 a0001c0001t0004g0067 a0001c0001t0005g0187 a0001c0001t0005g0192 a0001c0001t0005g0202 a0001c0001t0006g0007 a0001c0001t0007g0188 a0001c0001t0017g0181 a0001c0001t0018g0222 a0001c0003t0004g0205 a0001c0005t0001g0195 a0001c0005t0001g0201 a0001c0005t0001g0204 a0001c0005t0009g0198 a0001c0005t0009g0203 a0002c0002t0001g0003 a0002c0002t0004g0069 a0003c0004t0003g0182 a0005c0006t0002g0045 a0006c0009t0001g0197 a0006c0009t0001g0199 a0007c0008t0005g0062 a0007c0008t0005g0063 a0009c0014t0002g0071	51	224	0.2277	-178	c.141 others(19): Show c.141+17832_141+18009del	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SCTR_chr2_119434843_119529483	119444748	TACACATA others(171): Show TACACATATATACGTACGAATATATATACACATATATACGTACGAATATA TATACACATATATTCGTACGAATATATATACACATATATTCGTACGAATA TATATACACATATATTCGTACGAATATATATACACATATATTCGTACGAA TATATATACATATATTCGTACGAATATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02818.hp2 HG04228.hp1 others(3): Show HG01243.hp2 HG02818.hp2 HG04228.hp1 NA18522.hp2 NA18945.hp2 NA18995.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0007 a0003c0006t0005 a0001c0001t0001 a0001c0001t0007 a0003c0006t0005	a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0007g0285 others(3): Show a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0007g0285 a0003c0006t0005g0152 a0003c0006t0005g0168 a0003c0006t0005g0267	6	290	0.0207	-178	c.114 others(19): Show c.1140+1833_1140+2010del	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SENP1_chr12_48037897_48111079	48056904	CATATTAC others(171): Show CATATTACATATATAATATATTATTTAATATATTACATATTACATATATA ATATATTATTTAATATATTACATATTACATATATAAATATATTATTTAAT ATATTACATATTACATATATAAATATATTATTTAATATATTATATATTAC ATATATAAATATATTATTTAATATATTAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0292 a0001c0001t0006g0292	1	394	0.0025	-178	c.140 others(19): Show c.1407+6628_1407+6805del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SERPINF2_chr17_1737871_1760265	1739381	AGCCGGAC others(171): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTG AGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01346.hp2 HG01928.hp1 others(7): Show HG00621.hp1 HG01346.hp2 HG01928.hp1 HG02040.hp1 HG03688.hp1 HG04115.hp2 NA18940.hp2 NA18994.hp2 NA18995.hp2 NA19074.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0011c0016 a0003c0003 a0011c0016	a0003c0003t0001 a0003c0003t0004 a0011c0016t0004 a0003c0003t0001 a0003c0003t0004 a0011c0016t0004	a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0015 others(6): Show a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0015 a0003c0003t0001g0114 a0003c0003t0001g0117 a0003c0003t0001g0157 a0003c0003t0004g0151 a0003c0003t0004g0156 a0011c0016t0004g0046	10	445	0.0225	-178	c.-35 others(11): Show c.-3531_-3354del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3489		chr17	TogoVar
SHOX_chrX_625791_656584	636545	AAATATAT others(171): Show AAATATATATAAACATATATACATATAAAGAAATATATATAAACATATAT ACATATAAAATATACATATATAAACATATATATACATATAAAGAAATATA TATAAACATATATACATATAAAATATACATATATAAACATATATATACAT AAAATATATATATAAACATATATATACAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18950.hp2 HG02523.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0126 a0001c0001t0117 a0001c0001t0126	a0001c0001t0117g0135 a0001c0001t0126g0097 a0001c0001t0117g0135 a0001c0001t0126g0097	2	220	0.0091	-178	c.486 others(17): Show c.486+1722_486+1899del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	636548	TATATATA others(171): Show TATATATAAACATATATACATATAAAGAAATATATATAAACATATATACA TATAAAATATACATATATAAACATATATATACATATAAAGAAATATATAT AAACATATATACATATAAAATATACATATATAAACATATATATACATAAA ATATATATATAAACATATATATACATAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(143): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01257.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 NA18906.hp2 NA18941.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19089.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0004 a0000 a0001 a0004	a0000c0002 a0001c0001 a0001c0003 others(1): Show a0000c0002 a0001c0001 a0001c0003 a0004c0004	a0000c0002t0002 a0000c0002t0077 a0000c0002t0085 others(126): Show a0000c0002t0002 a0000c0002t0077 a0000c0002t0085 a0000c0002t0097 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0036 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0001t0091 a0001c0001t0092 a0001c0001t0095 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0103 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0118 a0001c0001t0119 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0127 a0001c0001t0128 a0001c0001t0131 a0001c0001t0132 a0001c0001t0134 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0141 a0001c0001t0143 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0149 a0001c0001t0150 a0001c0001t0152 a0001c0001t0153 a0001c0001t0158 a0001c0001t0159 a0001c0001t0162 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0172 a0001c0001t0174 a0001c0001t0175 a0001c0001t0176 a0001c0001t0181 a0001c0001t0182 a0001c0001t0183 a0001c0001t0188 a0001c0001t0189 a0001c0001t0198 a0001c0001t0199 a0001c0003t0190 a0001c0003t0191 a0004c0004t0076	a0000c0002t0002g0115 a0000c0002t0077g0031 a0000c0002t0085g0045 others(140): Show a0000c0002t0002g0115 a0000c0002t0077g0031 a0000c0002t0085g0045 a0000c0002t0097g0194 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0165 a0001c0001t0002g0142 a0001c0001t0002g0166 a0001c0001t0003g0001 a0001c0001t0005g0054 a0001c0001t0005g0186 a0001c0001t0006g0010 a0001c0001t0006g0197 a0001c0001t0007g0070 a0001c0001t0007g0076 a0001c0001t0008g0117 a0001c0001t0008g0130 a0001c0001t0009g0060 a0001c0001t0009g0099 a0001c0001t0010g0008 a0001c0001t0010g0093 a0001c0001t0011g0002 a0001c0001t0012g0190 a0001c0001t0012g0191 a0001c0001t0013g0055 a0001c0001t0013g0063 a0001c0001t0014g0051 a0001c0001t0014g0052 a0001c0001t0015g0062 a0001c0001t0015g0199 a0001c0001t0016g0069 a0001c0001t0017g0023 a0001c0001t0022g0050 a0001c0001t0024g0160 a0001c0001t0028g0025 a0001c0001t0030g0167 a0001c0001t0031g0094 a0001c0001t0034g0038 a0001c0001t0036g0138 a0001c0001t0039g0203 a0001c0001t0042g0145 a0001c0001t0043g0146 a0001c0001t0047g0161 a0001c0001t0048g0032 a0001c0001t0049g0059 a0001c0001t0050g0110 a0001c0001t0051g0111 a0001c0001t0052g0192 a0001c0001t0053g0101 a0001c0001t0055g0026 a0001c0001t0058g0014 a0001c0001t0059g0150 a0001c0001t0060g0185 a0001c0001t0061g0009 a0001c0001t0062g0044 a0001c0001t0063g0208 a0001c0001t0064g0170 a0001c0001t0065g0057 a0001c0001t0066g0173 a0001c0001t0067g0136 a0001c0001t0068g0039 a0001c0001t0069g0102 a0001c0001t0070g0034 a0001c0001t0072g0114 a0001c0001t0073g0201 a0001c0001t0074g0209 a0001c0001t0075g0141 a0001c0001t0078g0105 a0001c0001t0080g0176 a0001c0001t0081g0151 a0001c0001t0082g0007 a0001c0001t0083g0106 a0001c0001t0084g0048 a0001c0001t0086g0202 a0001c0001t0088g0175 a0001c0001t0089g0132 a0001c0001t0091g0119 a0001c0001t0092g0078 a0001c0001t0095g0035 a0001c0001t0098g0206 a0001c0001t0099g0068 a0001c0001t0100g0133 a0001c0001t0101g0196 a0001c0001t0103g0095 a0001c0001t0106g0042 a0001c0001t0107g0187 a0001c0001t0108g0171 a0001c0001t0109g0056 a0001c0001t0110g0153 a0001c0001t0111g0061 a0001c0001t0113g0058 a0001c0001t0114g0181 a0001c0001t0115g0195 a0001c0001t0116g0030 a0001c0001t0118g0009 a0001c0001t0119g0180 a0001c0001t0121g0037 a0001c0001t0122g0189 a0001c0001t0123g0053 a0001c0001t0124g0049 a0001c0001t0125g0008 a0001c0001t0127g0043 a0001c0001t0128g0096 a0001c0001t0131g0164 a0001c0001t0132g0046 a0001c0001t0134g0109 a0001c0001t0136g0193 a0001c0001t0137g0103 a0001c0001t0138g0033 a0001c0001t0139g0085 a0001c0001t0141g0177 a0001c0001t0143g0104 a0001c0001t0145g0001 a0001c0001t0146g0182 a0001c0001t0147g0210 a0001c0001t0149g0134 a0001c0001t0150g0163 a0001c0001t0152g0108 a0001c0001t0153g0140 a0001c0001t0158g0139 a0001c0001t0159g0172 a0001c0001t0162g0149 a0001c0001t0165g0019 a0001c0001t0166g0077 a0001c0001t0167g0015 a0001c0001t0168g0174 a0001c0001t0169g0131 a0001c0001t0172g0064 a0001c0001t0174g0126 a0001c0001t0175g0168 a0001c0001t0176g0184 a0001c0001t0181g0120 a0001c0001t0182g0083 a0001c0001t0183g0081 a0001c0001t0188g0122 a0001c0001t0189g0067 a0001c0001t0198g0018 a0001c0001t0199g0017 a0001c0003t0190g0123 a0001c0003t0191g0013 a0004c0004t0076g0012	146	220	0.6636	-178	c.486 others(17): Show c.486+1730_486+1907del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401738	CGACCCCG others(171): Show CGACCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGAC CCCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCA CTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGC CCCGCTCACCCCCGGCTCCACTGACCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA20752.hp1 HG06807.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0222 a0001c0001t0001g0114 a0001c0001t0001g0222	2	242	0.0083	-178	c.39 others(11): Show c.3980_*4157del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3977		chr11	TogoVar
SLAIN2_chr4_48336529_48431201	48363674	CACTTCCC others(171): Show CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACG GGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCGCATCTCCCTCCCGGACG GGGTGGCTGGCCGGGCTGAGGGGCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0241 a0001c0001t0017g0241	1	348	0.0029	-178	c.390 others(17): Show c.390-6130_390-5953del	SLAIN2	ENSG00000109171.15	transcript	ENST00000264313.11	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC7A1_chr13_29504414_29600688	29558908	GTGAGGGG others(171): Show GTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGA GTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAGAATGTGAGT GAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGA GAATGTGAGTGAGGCAGAGTGAATCTGAA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01433.hp2 HG02080.hp2 others(2): Show HG00673.hp1 HG01433.hp2 HG02080.hp2 NA19066.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0021 a0001c0002 a0001c0021	a0001c0002t0002 a0001c0002t0007 a0001c0021t0002 a0001c0002t0002 a0001c0002t0007 a0001c0021t0002	a0001c0002t0002g0010 a0001c0002t0002g0140 a0001c0002t0007g0001 others(1): Show a0001c0002t0002g0010 a0001c0002t0002g0140 a0001c0002t0007g0001 a0001c0021t0002g0164	5	330	0.0152	-178	c.-11 others(19): Show c.-114-5226_-114-5049del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558952	GGCAGAGT others(171): Show GGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAGAAT GTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGG GGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAATGAGGGGGGAGTGAA TGTGAGTGAGGGGGAGTGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18999.hp1 NA19009.hp1 others(1): Show HG00738.hp2 NA18999.hp1 NA19009.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0150 a0001c0002t0002g0173 a0001c0002t0002g0179 others(1): Show a0001c0002t0002g0150 a0001c0002t0002g0173 a0001c0002t0002g0179 a0001c0002t0009g0306	4	330	0.0121	-178	c.-11 others(19): Show c.-114-5270_-114-5093del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SMOC1_chr14_69874416_70037366	69924695	AGGGAGCT others(171): Show AGGGAGCTAGGGGAGGTAGGAGAGGTAGGGGAGGAGGAGAGGTAGGGGAA GTAGGGGAGGTAAGGGAGGTAGGGGAGGTAGGGGAGGTAAGGGAGGTAGG GGAGGTAGGGGAGCTAGGGGAGGTAAAGGAGGAGGAGAGGTAGGGGAGGT AGGGGAGCTAGGGGAGGCAGGGGAGCTAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02145.hp1 HG02257.hp1 others(8): Show HG00323.hp2 HG02145.hp1 HG02257.hp1 NA18944.hp1 NA18953.hp2 NA18970.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19057.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0025 a0001c0003t0001	a0001c0001t0001g0140 a0001c0001t0003g0088 a0001c0001t0006g0210 others(8): Show a0001c0001t0001g0140 a0001c0001t0003g0088 a0001c0001t0006g0210 a0001c0001t0021g0122 a0001c0002t0001g0257 a0001c0002t0002g0129 a0001c0002t0002g0139 a0001c0002t0002g0142 a0001c0002t0002g0156 a0001c0002t0025g0240 a0001c0003t0001g0167	11	270	0.0407	-178	c.100 others(19): Show c.100-27357_100-27180del	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SPPL2B_chr19_2323684_2360095	2349327	TTGATTCC others(171): Show TTGATTCCGTTCTCTCTCTCCACACACACTCGTGTTCTCATTCGCCTGAT TCCGTTCTCTCTCTCCACACACACTCGTGTTCTCATTCGCTTGATTCCGT TCTCTCTCTCCACACACACGCGCTCTCATTCGCTTGATTCCGTTCTCTCT CTCCACACACACTCGTGTTCTCATTCGCC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19082.hp1 HG03927.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0273 a0001c0001t0002g0260 a0001c0001t0002g0273	2	414	0.0048	-178	c.135 others(19): Show c.1355-1911_1355-1734del	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
STARD6_chr18_54319492_54362858	54343760	GGAGGGAG others(171): Show GGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCTGCCCCGTCCGCGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02717.hp1 others(2): Show HG01243.hp1 HG02559.hp2 HG02717.hp1 HG02723.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0198 a0001c0001t0001g0199 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200	5	350	0.0143	-178	c.141 others(17): Show c.141-6687_141-6510del	STARD6	ENSG00000174448.9	transcript	ENST00000307844.4	protein_coding	4/7			chr18	TogoVar
TBC1D21_chr15_73868564_73894214	73871864	AGCCTCCA others(171): Show AGCCTCCATGTGGTTGCTATGGGGCTTTTGTAATATGACTAAACTGTATT GGCTCATTTGGGGAAGGGTTATCACCTACAATTCACAGATAGGATGCCAG AGGTTAAAAGAAGTTCAGTAGTTGATCTATGTTCACCATGTTCGTTTTAG AAGCCAGGTTGAATTGAGCCCTCAGATGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(166): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19072.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0005t0001 a0002c0002t0001 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0097 a0001c0001t0002g0111 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0003t0001g0001 a0001c0003t0001g0007 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0100 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0107 a0001c0003t0001g0120 a0001c0005t0001g0094 a0001c0005t0001g0101 a0002c0002t0001g0091 a0005c0008t0001g0109	169	382	0.4424	-178	c.-18 others(11): Show c.-1845_-1668del	TBC1D21	ENSG00000167139.9	transcript	ENST00000300504.7	protein_coding		1699		chr15	TogoVar
TENM2_chr5_166974029_168269157	167860347	GCCCCGTC others(171): Show GCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCACCA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0029 a0001c0008t0003g0029	1	54	0.0185	-178	c.503 others(19): Show c.503-15634_503-15457del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
THEG_chr19_356747_381026	376932	CCCCACCC others(171): Show CCCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGTG CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCC TGTGCCCCACCCAGCCTCTCCCCCCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG03834.hp2 HG02451.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0063 a0001c0001t0005g0102 a0001c0001t0002g0063 a0001c0001t0005g0102	2	370	0.0054	-178	c.-11 others(10): Show c.-1140_-963del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		907		chr19	TogoVar
TMEM120A_chr7_75981831_75999595	75988704	GGTGGAGG others(171): Show GGTGGAGGGGAAGGCCGGGTGGGGGGCTGGAGGGGAAGGCCAGGTGGGGG GCTGGAGGGGAAGAAGGCCGGGTGGGGGGCTGGAGGGGAAGGCCGGGTGG GGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGG GGGTGTGGAGGGGAAGGCCGGGTGGGTGT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0138 a0001c0001t0001g0151	2	368	0.0054	-178	c.377 others(15): Show c.377+283_378-189del	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM132C_chr12_128262170_128712911	128285727	CTCTCTCT others(171): Show CTCTCTCTCTCCCCATCTCTATCCCTCTCTCCCTTTCTCTCTTTCTCTCT CTCTCTCTCTCTCCCCATCTCTATCCCTCTCTCCCTTTCTCTCTTTCTCT CTCTCCCCATCTCTATCCCTCTCTCCCTTTCTCTCTTTCTCTCTCTCCCC ATCTCTATCCCTCTCTCCCTTTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp1 NA19240.hp1 HG02818.hp1 HG02886.hp1 NA19240.hp1	a0003 a0004 a0025 a0003 a0004 a0025	a0003c0084 a0004c0007 a0025c0054 a0003c0084 a0004c0007 a0025c0054	a0003c0084t0002 a0004c0007t0002 a0025c0054t0001 a0003c0084t0002 a0004c0007t0002 a0025c0054t0001	a0003c0084t0002g0151 a0004c0007t0002g0090 a0025c0054t0001g0008 a0003c0084t0002g0151 a0004c0007t0002g0090 a0025c0054t0001g0008	3	170	0.0177	-178	c.85+ others(17): Show c.85+18293_85+18470del	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNC_chr9_115014575_115123157	115095516	ATATATAT others(171): Show ATATATATGTATATATATATGTATATATATGTATATATATGTATATATAT GTATATATATGTATATATATGTATATATATGTATATATATATGTATATAT GTATATATATATGTATATATATGTATATATATATGTATATATATGTATAT ATATATGTATATATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0103 a0005c0103	a0005c0103t0012 a0005c0103t0012	a0005c0103t0012g0091 a0005c0103t0012g0091	1	366	0.0027	-178	c.-13 others(19): Show c.-136-4540_-136-4363del	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	1/27			chr9	TogoVar
TXK_chr4_48061393_48139250	48104318	ATATATAA others(171): Show ATATATAATATAATATATAATATATATAATATATAATATAATATATAATA TATATAATATATAATATTATATATAATATATATAATATATAATATTATAT ATAATATATATAATATATAATATTATATATAATATATATAATATATAATA TTATATATTATATATATAATATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0039	1	362	0.0028	-178	c.501 others(15): Show c.501+405_501+582del	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar

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Search Results (Total: 10000 hits)