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
PERM1_chr1_970198_987093	977126	CACCAACC others(246): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACC AACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGC CCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCC CCCA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03516.hp1 HG02451.hp1 HG03516.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0195 a0004c0004t0001g0196 a0004c0004t0001g0195 a0004c0004t0001g0196	2	408	0.0049	-253	c.215 others(17): Show c.2150-755_2150-503del	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977190	CACCAACC others(246): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCGACCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGC TCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGG GAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCC CCCA	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0015 a0004c0004t0015	a0004c0004t0015g0197 a0004c0004t0015g0197	1	408	0.0025	-253	c.215 others(17): Show c.2150-819_2150-567del	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PLEKHN1_chr1_961482_980865	977126	CACCAACC others(246): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACC AACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGC CCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCC CCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0026 a0002c0008t0026	a0002c0008t0026g0021 a0002c0008t0026g0021	1	422	0.0024	-253	c.25 others(11): Show c.2552_*2804del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1262		chr1	TogoVar
SNTG2_chr2_945849_1372613	1221580	GTCTGTCG others(246): Show GTCTGTCGCTGTCGCTCTGTGTATCTCTGTCTCTGTCTGTGTCTCGTGTC GGTGCTCCGGTTCCCCCCAACCTCTGTCTCGGTCCCCCCCGGTCTCGGTC TCTCTCTCTCTCGGTTCTTCTCGGTCTCTGTCTCTGTCTCTATCTCTGTC TCTGTCTCTCTCTGTCTCTGTCTGTGTCTCTCTCTGTCTCTGCCTCTCTC TGTCTCTGTCTCTGTCTGTCTCTGTCTCTCTCTCGGTCTCTGTCTCTCTC TGTC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02630.hp2 HG02647.hp1	a0006 a0011 a0006 a0011	a0006c0009 a0011c0018 a0006c0009 a0011c0018	a0006c0009t0001 a0011c0018t0001 a0006c0009t0001 a0011c0018t0001	a0006c0009t0001g0049 a0011c0018t0001g0045 a0006c0009t0001g0049 a0011c0018t0001g0045	2	190	0.0105	-253	c.719 others(19): Show c.719+12354_719+12606del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX8_chr7_2246770_2319441	2278792	CACTCACA others(246): Show CACTCACACTACGGAGTCGACGCCGGACTCACACTACGGAGTCGACGCCG GACTCACTCACACTACGGAGTCGACGCCGGACTCACTCACACTACGGAGT CGAAGCCGGACTCACTCACACTACGGAGTCGACGCCGGACTCACTCACAC TACGGAGTCGACGCCGGACTCACTCACACTACGGAGTCGACGCCGGACTC ACACTACGGAGTCGACGCCGGACTCACTCACACTACGGAGTCGAAGCCGG ACTC	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01516.hp2 HG01934.hp2 others(1): Show HG01175.hp2 HG01516.hp2 HG01934.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0235 a0001c0001t0016g0236 a0001c0001t0016g0237 others(1): Show a0001c0001t0016g0235 a0001c0001t0016g0236 a0001c0001t0016g0237 a0001c0001t0016g0333	4	370	0.0108	-253	c.95- others(13): Show c.95-740_95-488del	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SRBD1_chr2_45383680_45616267	45415172	ATGTATAT others(246): Show ATGTATATACACACATATAGTGTGTATATAGTATGTATATACACACATAT AGTGTGTATATAGTATGTATATACACACATATAGTGTGTATATAGTATGT ATATACACACATATAGTGTGTATATAGTATGTATATACACACATATAGTG TGTATATAGTATGTATATACACACATATAGTGTGTATATAGTATGTATAT ACACACATATAGTGTGTATATAGTATGTATATACACACATATAGTGTGTA TATG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG01109.hp1 others(13): Show HG00642.hp2 HG00741.hp1 HG01109.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 NA18522.hp1 NA19043.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0016 a0002c0002 a0002c0008 a0002c0016	a0002c0002t0001 a0002c0008t0001 a0002c0016t0001 a0002c0002t0001 a0002c0008t0001 a0002c0016t0001	a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0010 others(13): Show a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0230 a0002c0008t0001g0123 a0002c0016t0001g0024	16	358	0.0447	-253	c.233 others(19): Show c.2334-2132_2334-1880del	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
TENM2_chr5_166974029_168269157	167974021	GAGGAAGG others(246): Show GAGGAAGGAAGGAAGGAGAAGGAAGGAAGGGAGGAAAGGAGGGAGGGAGG GAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGA AGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGA GGGAGGGAGGAAGGAAGGAAGGAAGGGAGAAAGGGAGGGAGGGAGGGAGG GAGGGAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGG AGGA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG04204.hp2 HG03195.hp2 HG04204.hp2	a0001 a0001	a0001c0005 a0001c0017 a0001c0005 a0001c0017	a0001c0005t0024 a0001c0017t0002 a0001c0005t0024 a0001c0017t0002	a0001c0005t0024g0009 a0001c0017t0002g0053 a0001c0005t0024g0009 a0001c0017t0002g0053	2	54	0.0370	-253	c.948 others(19): Show c.948-18906_948-18654del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
THADA_chr2_43225851_43601038	43515141	TAATATAT others(246): Show TAATATATTTTATATATTATATATAATATATTATATATTATATATAATAT ATTATATATAATATATAATATATAATATATTATATATAATATATAATATA TAATATATTATATATAATATATAATATATAATATATAATATATTATATAT AATATATAATATGTAATATATAATATTTTATATATAATATATAATATAAT ATATAATATTTTATATATAATATATAATATATAATATATAATATTTTATA TATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03579.hp1 HG02818.hp1 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0165 a0003c0003t0001g0156 a0001c0001t0001g0165 a0003c0003t0001g0156	2	206	0.0097	-253	c.337 others(19): Show c.3375-6614_3375-6362del	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37			chr2	TogoVar
UNC93A_chr6_167286315_167321014	167295410	CTCCTCGC others(246): Show CTCCTCGCCTCCCTCGTGATCCTCGGCCTCCCTCGTGCTCCTCGCCTCCC TCGTGCTCCTCGCCTCCCTCGTGAACCTCGCCTCCCTCGTGATCCTCGCC TGCCTCGTGCTCCTCGCCTGCCTCGTGCTCCTCGCCTCCCTCGTGCTCCT CGCCTCCCTCGTGATCCTCGCCTGCCTCGTGCTCCTCGCCTCCCTCGTGC TCCTCGCCTCCCTCGTGCTCCTCGCCTGCCTCGTGCTCCTCGCCTCCCTC GTGA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp1 HG02615.hp1 HG02886.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0003c0003t0003 a0001c0001t0005 a0003c0003t0003	a0001c0001t0005g0229 a0003c0003t0003g0228 a0001c0001t0005g0229 a0003c0003t0003g0228	2	448	0.0045	-253	c.270 others(15): Show c.270-612_270-360del	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ZFAND2A_chr7_1147907_1165196	1156171	TGAAGGCC others(246): Show TGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGG ACCGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGC TCCGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAAC CTGAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAG CAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCA GCTG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	432	0.0023	-253	c.151 others(15): Show c.151-840_151-588del	ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4			chr7	TogoVar
ZNF516_chr18_76352682_76500242	76393444	CGGGAAGG others(246): Show CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGG	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0231 a0001c0001t0083g0231	1	346	0.0029	-253	c.181 others(21): Show c.1811-13394_1811-13142del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394500	GGGTGGTC others(246): Show GGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAG GGCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01070.hp1 others(66): Show HG00323.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02155.hp1 HG02165.hp2 HG02602.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18952.hp2 NA18959.hp2 NA18960.hp2 NA18966.hp2 NA18977.hp2 NA18995.hp1 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19080.hp2 NA20129.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0009 a0013 a0015	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0014 a0001c0031 a0002c0003 a0002c0054 a0004c0010 a0004c0017 a0004c0030 a0005c0008 a0006c0039 a0009c0050 a0013c0037 a0015c0036	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(55): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0056 a0001c0001t0066 a0001c0001t0092 a0001c0001t0095 a0001c0001t0107 a0001c0001t0122 a0001c0001t0144 a0001c0001t0152 a0001c0001t0153 a0001c0001t0156 a0001c0001t0157 a0001c0001t0160 a0001c0001t0162 a0001c0001t0179 a0001c0001t0187 a0001c0001t0188 a0001c0001t0189 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0105 a0001c0002t0127 a0001c0002t0128 a0001c0002t0129 a0001c0002t0136 a0001c0002t0141 a0001c0004t0078 a0001c0005t0062 a0001c0005t0111 a0001c0006t0028 a0001c0006t0057 a0001c0014t0008 a0001c0031t0098 a0002c0003t0060 a0002c0054t0101 a0004c0010t0010 a0004c0010t0037 a0004c0017t0064 a0004c0030t0176 a0005c0008t0045 a0006c0039t0001 a0009c0050t0009 a0013c0037t0002 a0015c0036t0134	a0001c0001t0002g0024 a0001c0001t0002g0137 a0001c0001t0002g0156 others(66): Show a0001c0001t0002g0024 a0001c0001t0002g0137 a0001c0001t0002g0156 a0001c0001t0002g0205 a0001c0001t0002g0279 a0001c0001t0003g0031 a0001c0001t0003g0276 a0001c0001t0004g0008 a0001c0001t0004g0221 a0001c0001t0007g0247 a0001c0001t0009g0243 a0001c0001t0010g0286 a0001c0001t0011g0193 a0001c0001t0012g0295 a0001c0001t0017g0285 a0001c0001t0018g0025 a0001c0001t0018g0132 a0001c0001t0020g0035 a0001c0001t0020g0328 a0001c0001t0040g0191 a0001c0001t0043g0294 a0001c0001t0044g0267 a0001c0001t0056g0151 a0001c0001t0066g0190 a0001c0001t0092g0135 a0001c0001t0095g0232 a0001c0001t0107g0152 a0001c0001t0122g0282 a0001c0001t0144g0144 a0001c0001t0152g0027 a0001c0001t0153g0061 a0001c0001t0156g0304 a0001c0001t0157g0065 a0001c0001t0160g0136 a0001c0001t0162g0291 a0001c0001t0179g0293 a0001c0001t0187g0089 a0001c0001t0188g0051 a0001c0001t0189g0246 a0001c0002t0001g0105 a0001c0002t0001g0164 a0001c0002t0001g0319 a0001c0002t0005g0067 a0001c0002t0007g0187 a0001c0002t0105g0289 a0001c0002t0127g0042 a0001c0002t0128g0041 a0001c0002t0129g0192 a0001c0002t0136g0103 a0001c0002t0141g0058 a0001c0004t0078g0166 a0001c0005t0062g0038 a0001c0005t0111g0071 a0001c0006t0028g0292 a0001c0006t0057g0165 a0001c0014t0008g0028 a0001c0031t0098g0273 a0002c0003t0060g0220 a0002c0054t0101g0100 a0004c0010t0010g0225 a0004c0010t0037g0245 a0004c0017t0064g0014 a0004c0030t0176g0134 a0005c0008t0045g0138 a0005c0008t0045g0139 a0006c0039t0001g0178 a0009c0050t0009g0066 a0013c0037t0002g0060 a0015c0036t0134g0040	69	346	0.1994	-253	c.181 others(21): Show c.1811-14450_1811-14198del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADAMTS17_chr15_99966437_100346975	100174228	ATTTCTGC others(245): Show ATTTCTGCTCAGATTCCCAATTTTGGGTGAGACAGAGGAGGGCAATAGTG TTGGCAGATTCTGGACACAACTAAAATACAAGGCCCCAATGTTTCATCTA GATAGTCTGCCCTGACAGGGAATATTCTAAGGAACAAAGTTCAGGAACTG TAATCACACTGCTGCTAGGTTACTAAACCCTAGTTTGTGCGACTCTGTAC CAAGTATCCTGGGTATTGTACAGATTCACTGTTTTTCTAACACCAAGGGC TCG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG03139.hp2 HG01167.hp2 HG01169.hp2 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0010 a0003c0006 a0001c0010 a0003c0006	a0001c0010t0020 a0003c0006t0021 a0001c0010t0020 a0003c0006t0021	a0001c0010t0020g0018 a0003c0006t0021g0088 a0003c0006t0021g0089 a0001c0010t0020g0018 a0003c0006t0021g0088 a0003c0006t0021g0089	3	228	0.0132	-252	c.118 others(21): Show c.1182-19160_1182-18909del	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1592538	CTCTCTGG others(245): Show CTCTCTGGCATGGTCCCCTCTGTCACCCAGCTCCCTTCGCCAAAGCCACC CTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTACCCT CGCCCAAGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTC ACCCAGCTTCCCTCGCCCAAGCCACCCTCCATAGGTCTCCTCTCTGGCAT GGTCCCCTCTGTCACCCAGATTCACTCACCCAAGCCACCCTCCATAGGTC TCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0029 a0002c0004t0005g0029	1	106	0.0094	-252	c.100 others(21): Show c.100+144261_100+144512del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1699240	ATACACTC others(245): Show ATACACTCAATCCCACTCCACCGGGAGACCGGGCACTCGCCAATACACGC AATCCCACTCCACCGGGAGACCAGGTGCTCACCAGTACACGCAATCCCAC TCCACCGGGAGACCAGGCGCTCGCCAATACACGCAATCCCACTCCACCGG GAGACCAGGCGCTCGCCAATACACTCAATCCCACTCCACCGGGAGACCGG GCACTCGCCAATACACGCAATCCCACTCCACCGGGAGACCAGGTGCTCAC CAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(59): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG01081.hp1 HG01081.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03669.hp1 HG03669.hp2 NA18522.hp1 NA18522.hp2 NA18967.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19011.hp1 NA19070.hp1 NA19086.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011	a0001c0001 a0001c0003 a0001c0007 others(9): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0002c0016 a0003c0006 a0004c0005 a0005c0015 a0006c0012 a0007c0011 a0011c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(45): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0003t0009 a0001c0003t0032 a0001c0003t0039 a0001c0003t0040 a0001c0003t0060 a0001c0007t0066 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0026 a0002c0002t0027 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0048 a0002c0002t0053 a0002c0002t0063 a0002c0002t0064 a0002c0004t0047 a0002c0016t0006 a0003c0006t0067 a0004c0005t0002 a0004c0005t0037 a0005c0015t0014 a0006c0012t0007 a0007c0011t0034 a0011c0008t0016	a0001c0001t0001g0065 a0001c0001t0003g0085 a0001c0001t0003g0097 others(59): Show a0001c0001t0001g0065 a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0009g0055 a0001c0001t0011g0017 a0001c0001t0011g0026 a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0017g0030 a0001c0001t0019g0038 a0001c0001t0022g0015 a0001c0001t0029g0031 a0001c0001t0030g0034 a0001c0001t0031g0059 a0001c0001t0035g0079 a0001c0001t0051g0051 a0001c0001t0052g0062 a0001c0001t0054g0083 a0001c0001t0056g0081 a0001c0001t0057g0103 a0001c0003t0009g0046 a0001c0003t0032g0071 a0001c0003t0039g0044 a0001c0003t0040g0073 a0001c0003t0060g0104 a0001c0007t0066g0105 a0002c0002t0002g0043 a0002c0002t0002g0050 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0004g0101 a0002c0002t0005g0012 a0002c0002t0005g0022 a0002c0002t0005g0028 a0002c0002t0006g0011 a0002c0002t0006g0018 a0002c0002t0006g0019 a0002c0002t0007g0004 a0002c0002t0008g0042 a0002c0002t0008g0047 a0002c0002t0008g0058 a0002c0002t0026g0032 a0002c0002t0027g0021 a0002c0002t0041g0074 a0002c0002t0042g0061 a0002c0002t0043g0053 a0002c0002t0048g0068 a0002c0002t0053g0106 a0002c0002t0063g0091 a0002c0002t0064g0100 a0002c0004t0047g0063 a0002c0016t0006g0010 a0003c0006t0067g0080 a0004c0005t0002g0039 a0004c0005t0037g0064 a0005c0015t0014g0008 a0006c0012t0007g0006 a0007c0011t0034g0076 a0011c0008t0016g0003	62	106	0.5849	-252	c.100 others(19): Show c.100+37559_100+37810del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1700217	GCAATCCC others(245): Show GCAATCCCACTCCACCAGGAGACCAGGCGCTCGCCAATACACTCAATCCC ACTCCACCGGGAGACCAGGCGCTAGTCAATACACGCAATCCCACTCTACC AGGAGACCGGGCACTCGCCAACACACACAATCCCACTCCACCGGGAGACC AGGCGCTCGCCAATACACTCAATCCCACTCCACCGGGAGACCAGGCGCTA GTCAATACACGCAATCCCACTCCACCAGGAGACCGGGCACTCGCCAACAC ACA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp2 HG02965.hp1 HG02258.hp2 HG02886.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0040 a0002c0002t0005 a0001c0001t0001 a0001c0003t0040 a0002c0002t0005	a0001c0001t0001g0065 a0001c0003t0040g0073 a0002c0002t0005g0028 a0001c0001t0001g0065 a0001c0003t0040g0073 a0002c0002t0005g0028	3	106	0.0283	-252	c.100 others(19): Show c.100+36582_100+36833del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1701090	TCAATACA others(245): Show TCAATACACGCAATCCCACTCTACCAGGAGACCGGGCACTCGCCAATACA CACAATCCCACTCCACCGGGAGACCAGGCGCTCGTCAATACACTCAATCC CACTCCACCGGGAGACCAGGCACTCACCAATACACGCAATCCCACTCCAC CGGGAGACCAGGCGCTAGTCAATACACGCAATCCCACTCCACCGGGAGAC CAGACGCTAGTCAATACACGCAATCCCACTCCACCAGGAGACCGGGCACT CGC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0028 a0002c0004t0028	a0002c0004t0028g0020 a0002c0004t0028g0020	1	106	0.0094	-252	c.100 others(19): Show c.100+35709_100+35960del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1701157	GGGAGACC others(245): Show GGGAGACCAGGCGCTCGTCAATACACTCAATCCCACTCCACCGGGAGACC AGGCACTCACCAATACACGCAATCCCACTCCACCGGGAGACCAGGCGCTA GTCAATACACGCAATCCCACTCCACCGGGAGACCAGACGCTAGTCAATAC ACGCAATCCCACTCCACCAGGAGACCGGGCACTCGCCAATACACGCAATC CCACTCCACCGGGAGACCAGGCGCTAGTCAATACACGCAATCCCACTCCA CCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02145.hp1 HG02615.hp1 others(4): Show HG00639.hp1 HG02145.hp1 HG02615.hp1 HG03139.hp1 HG04184.hp1 NA18945.hp1 NA19070.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0009c0010	a0001c0001t0009 a0001c0001t0050 a0001c0001t0061 others(4): Show a0001c0001t0009 a0001c0001t0050 a0001c0001t0061 a0001c0003t0001 a0002c0002t0007 a0002c0002t0065 a0009c0010t0006	a0001c0001t0009g0054 a0001c0001t0050g0077 a0001c0001t0061g0087 others(4): Show a0001c0001t0009g0054 a0001c0001t0050g0077 a0001c0001t0061g0087 a0001c0003t0001g0052 a0002c0002t0007g0002 a0002c0002t0065g0086 a0009c0010t0006g0014	7	106	0.0660	-252	c.100 others(19): Show c.100+35642_100+35893del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111435	CTCCCTCC others(245): Show CTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCC TAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCA CCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAA CCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCA CCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCCCCCGGGAA CCA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	368	0.0027	-252	c.401 others(17): Show c.401+8615_401+8866del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111534	ACCAGACA others(245): Show ACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACA ACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCC ACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCCCCCGGGA ACCATCCCTCCTAATCCCACCAGACCACCTGCCCGCCACGGGCACCTCCC TCCTAATCCCACCAGACAACCTGCCCGCCACAGACACCTCCCTCCTAATC CCT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG02886.hp1 others(1): Show HG00280.hp2 HG00609.hp1 HG02886.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0098 a0001c0002t0001g0111 a0001c0002t0001g0125 others(1): Show a0001c0002t0001g0098 a0001c0002t0001g0111 a0001c0002t0001g0125 a0001c0002t0006g0094	4	368	0.0109	-252	c.401 others(17): Show c.401+8699_401+8950del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111741	CCCACCAG others(245): Show CCCACCAGACAACCTGCCCGCCACAGACACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCGCCGTGAGCACCT CCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTA ATG	C C	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0332 a0001c0001t0003g0332	1	368	0.0027	-252	c.401 others(17): Show c.401+8902_401+9153del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ALDH16A1_chr19_49448225_49476050	49461254	GGTCTGGA others(245): Show GGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTG GGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGA GGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCGGGGTCTGA GGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCT GGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0072	1	342	0.0029	-252	c.578 others(14): Show c.578-328_578-77del	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD11_chr16_89262630_89495561	89429102	ACGCTCAG others(245): Show ACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAG ACGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGACGTTCTA GTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACT CTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0126 a0001c0006t0003g0126	1	310	0.0032	-252	c.-14 others(21): Show c.-144-10986_-144-10735del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1841802	AGGAACTG others(245): Show AGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGACGGGAACTGGGGCCG CGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGG GCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGACCGGAAC TGGGGCCGCGACCGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGG GAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCG GCG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01361.hp1 HG01981.hp2 others(11): Show HG00597.hp2 HG01361.hp1 HG01981.hp2 HG02148.hp2 HG02165.hp1 HG03704.hp2 NA18942.hp1 NA18948.hp1 NA18954.hp2 NA18967.hp2 NA19058.hp2 NA19070.hp1 NA19084.hp1 NA19085.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0006 a0001c0011 a0001c0069 others(10): Show a0001c0006 a0001c0011 a0001c0069 a0001c0153 a0001c0155 a0001c0156 a0002c0033 a0002c0127 a0002c0149 a0002c0150 a0007c0053 a0007c0147 a0007c0148	a0001c0006t0001 a0001c0011t0003 a0001c0069t0001 others(10): Show a0001c0006t0001 a0001c0011t0003 a0001c0069t0001 a0001c0153t0002 a0001c0155t0003 a0001c0156t0002 a0002c0033t0002 a0002c0127t0001 a0002c0149t0055 a0002c0150t0001 a0007c0053t0001 a0007c0147t0002 a0007c0148t0002	a0001c0006t0001g0008 a0001c0011t0003g0144 a0001c0069t0001g0012 others(11): Show a0001c0006t0001g0008 a0001c0011t0003g0144 a0001c0069t0001g0012 a0001c0153t0002g0014 a0001c0155t0003g0179 a0001c0156t0002g0007 a0002c0033t0002g0006 a0002c0127t0001g0013 a0002c0149t0055g0009 a0002c0150t0001g0005 a0007c0053t0001g0010 a0007c0053t0001g0016 a0007c0147t0002g0004 a0007c0148t0002g0003	14	363	0.0386	-252	c.-47 others(17): Show c.-47-1516_-47-1265del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP10A_chr15_25673712_25868327	25758348	CCACCTGA others(245): Show CCACCTGATCCACCCTAACTCATTCCAATCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCT AACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0056 a0056	a0056c0026 a0056c0026	a0056c0026t0001 a0056c0026t0001	a0056c0026t0001g0124 a0056c0026t0001g0124	1	300	0.0033	-252	c.654 others(19): Show c.654+22419_655-22208del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112804020	GCCATCCC others(245): Show GCCATCCCCTCTCTGCCCTCCTTCCCTCCTTTTCCTCCTTCCCTCCTTCA CCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCT TCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCTCCTTCACCTC CCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCAC CTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTC CCC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03486.hp2 HG03041.hp1 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0020 a0004c0015 a0001c0020 a0004c0015	a0001c0020t0008 a0004c0015t0002 a0001c0020t0008 a0004c0015t0002	a0001c0020t0008g0063 a0004c0015t0002g0087 a0001c0020t0008g0063 a0004c0015t0002g0087	2	254	0.0079	-252	c.163 others(15): Show c.163-911_163-660del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804113	TCCTCCTT others(245): Show TCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCTCCT TCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCT CCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCTCCTTCAC CTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTT CCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCC TTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01099.hp2 NA18973.hp2 HG00558.hp1 HG01099.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0054 a0001c0002t0007 a0001c0002t0018 a0001c0001t0054 a0001c0002t0007 a0001c0002t0018	a0001c0001t0054g0008 a0001c0002t0007g0110 a0001c0002t0018g0005 a0001c0001t0054g0008 a0001c0002t0007g0110 a0001c0002t0018g0005	3	254	0.0118	-252	c.163 others(15): Show c.163-798_163-547del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
B4GALNT3_chr12_454939_568509	543556	TGGAACTG others(245): Show TGGAACTGAGGAGCTGGGATGGGCATGGGGTGCTCATCCTCCTGGAGCTG AGGAGCTGGGGCGGGCATGGGGTGCTCATCTTCCCGGAGCTGAGGAGCTG GGGCGGGCATGGGGTGCTCATCTTCCTGGAGCTGAGGAGCTGGGACGGGC ATGGGGTGCTCATCCTCCTGGAACTGAGGAGCTGGGATGGGCATGGGGTG CTCATCCTCCCAGAGCTGAGGAGCTGGGGCAGGCATGGGGTGCTCATCTT CCC	T T	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19070.hp1 NA19010.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0248 a0001c0001t0002g0336 a0001c0001t0001g0248 a0001c0001t0002g0336	2	394	0.0051	-252	c.352 others(15): Show c.352-779_352-528del	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRSK2_chr11_1384934_1467689	1412166	CGCCCCGT others(245): Show CGCCCCGTCCTGCGGTGGGTGGAGTCTGAGCTGCGCCGCCCCGTCCTGCG GTGGGTGGAGTCTCAGCTGCGCCGCCCCGTCCTGCGGTGGGTGGAGTCTC AGCTGCGCCGCCCCGTCCTGCGGTGGGTGGAGTCTCAGCTGCGCCGCCCC GTCCTGCGGTGGGTGGAGTCTCAGCTGCGCCGCCCCGTCCTGCGGTGGGT GGAGTCTCAGCTGCGCCGCCCCGTCCTGCGGTGGGTGGAGTCTGAGCTGC GCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(92): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02129.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18939.hp1 NA18940.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18975.hp1 NA18977.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19064.hp1 NA19067.hp2 NA19068.hp1 NA19081.hp2 NA19090.hp1 NA19091.hp1 NA20805.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0002c0007 a0004c0009 a0006c0012 a0007c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0046 a0001c0001t0063 a0001c0001t0064 a0001c0001t0070 a0001c0001t0075 a0001c0004t0001 a0001c0004t0004 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0010 a0002c0002t0015 a0002c0002t0051 a0002c0002t0072 a0002c0007t0010 a0004c0009t0008 a0006c0012t0037 a0007c0013t0004	a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0058 others(91): Show a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0130 a0001c0001t0001g0150 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0239 a0001c0001t0003g0263 a0001c0001t0003g0268 a0001c0001t0003g0280 a0001c0001t0004g0051 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0090 a0001c0001t0004g0106 a0001c0001t0006g0197 a0001c0001t0006g0214 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0229 a0001c0001t0006g0247 a0001c0001t0006g0248 a0001c0001t0006g0282 a0001c0001t0009g0068 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0011g0295 a0001c0001t0011g0307 a0001c0001t0011g0352 a0001c0001t0027g0129 a0001c0001t0031g0012 a0001c0001t0032g0195 a0001c0001t0032g0209 a0001c0001t0046g0083 a0001c0001t0063g0253 a0001c0001t0064g0261 a0001c0001t0070g0210 a0001c0001t0075g0202 a0001c0004t0001g0091 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0004g0092 a0002c0002t0002g0060 a0002c0002t0002g0074 a0002c0002t0002g0079 a0002c0002t0002g0088 a0002c0002t0002g0321 a0002c0002t0002g0323 a0002c0002t0005g0198 a0002c0002t0005g0224 a0002c0002t0005g0258 a0002c0002t0008g0071 a0002c0002t0008g0078 a0002c0002t0008g0157 a0002c0002t0008g0162 a0002c0002t0008g0181 a0002c0002t0010g0004 a0002c0002t0010g0233 a0002c0002t0010g0246 a0002c0002t0015g0028 a0002c0002t0015g0327 a0002c0002t0051g0077 a0002c0002t0072g0273 a0002c0007t0010g0244 a0002c0007t0010g0245 a0004c0009t0008g0178 a0006c0012t0037g0293 a0007c0013t0004g0065	95	360	0.2639	-252	c.91+ others(17): Show c.91+21818_91+22069del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBLC_chr19_44772890_44805652	44801001	TGCAGCCC others(245): Show TGCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTGCAGCCCCTCCTT CCTCAGACCCAGGAATCCATACTGCAGCCCCTTCTCCCTCAGACCCAGGA GTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTGCAGC CCCTCCTCCCTCAGACCCAGGAGTCCATACTCCAGCCCCTCCTCCCTCAG ACCCAGGAGTCCATACTGCAGCCCCTTCTCCCTCAGACCCAGGAGTCCAG GCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG01884.hp2 HG02559.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0116 a0001c0006t0001g0117 a0001c0006t0001g0116 a0001c0006t0001g0117	2	344	0.0058	-252	c.45 others(9): Show c.459_*710del	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding		350		chr19	TogoVar
CDH4_chr20_61247261_61945617	61944891	GTCTGCAC others(245): Show GTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACC GTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGACT GTATGCACCGTGGCCGCCCCTTCTCACCAACGATGAGGAGCACTGCGACT GTCTGCACCGTGGCCGCCCCTTCTCACCGACGATGAGGAGCATTGCGACT GTATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACC GTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03139.hp1 HG02630.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0051 a0001c0003t0043 a0001c0001t0051 a0001c0003t0043	a0001c0001t0051g0083 a0001c0003t0043g0081 a0001c0001t0051g0083 a0001c0003t0043g0081	2	106	0.0189	-252	c.79 others(11): Show c.7949_*8200del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4275		chr20	TogoVar
CFAP99_chr4_2413955_2468002	2430062	ATAAACCA others(245): Show ATAAACCAAACGGCAGACTGCGGACAGCAGACTGCGGTGAAATGCCAGAA AATTACGCAATACATAAACCAAACGGCAGACTCCGGACAGCGGACTGCGG TGAAATGCCAGAAAATTACGCAATACATAAACCAAACGGCAGACTCCGGA CAGCGGACTGCGGTGAAATGCCAGAAAATTACGCAATACGTAAACCAAAC GGCAGACTGCGGACAGCAGACTGCGGTGAAATGCCAGAAAATTACGCAAT ACG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0001 a0017c0019t0001	a0017c0019t0001g0230 a0017c0019t0001g0230	1	350	0.0029	-252	c.111 others(17): Show c.111+3495_111+3746del	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP99_chr4_2413955_2468002	2430188	ATAAACCA others(245): Show ATAAACCAAACGGCAGACTCCGGACAGCGGACTGCGGTGAAATGCCAGAA AATTACGCAATACGTAAACCAAACGGCAGACTGCGGACAGCAGACTGCGG TGAAATGCCAGAAAATTACGCAATACGTAAACCAAACGGCAGACTCCGGA CAGCGGACTGCGGTGAAATGCCAGAAAATTACGCAATACGTAAACCAAAC GGCAGACTCCGGACAGCGGACTGCGGTGAAATGCCAGAAAATTATGCAAT ACG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02055.hp1 HG02080.hp1 others(17): Show HG00544.hp2 HG02055.hp1 HG02080.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03130.hp2 HG03453.hp1 HG03540.hp2 NA18967.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0001c0006 others(4): Show a0001c0002 a0001c0003 a0001c0006 a0001c0021 a0002c0001 a0005c0009 a0005c0017	a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 others(4): Show a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0021t0001 a0002c0001t0001 a0005c0009t0001 a0005c0017t0001	a0001c0002t0001g0004 a0001c0003t0001g0004 a0001c0003t0001g0028 others(14): Show a0001c0002t0001g0004 a0001c0003t0001g0004 a0001c0003t0001g0028 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0006t0001g0029 a0001c0006t0001g0031 a0001c0021t0001g0308 a0002c0001t0001g0005 a0002c0001t0001g0227 a0002c0001t0001g0233 a0005c0009t0001g0156 a0005c0009t0001g0158 a0005c0009t0001g0159 a0005c0009t0001g0160 a0005c0017t0001g0157 a0005c0017t0001g0166	20	350	0.0571	-252	c.111 others(17): Show c.111+3684_111+3935del	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CIB4_chr2_26576205_26646366	26619741	CGATCTCC others(245): Show CGATCTCCATCCCGGAATCCCCTACAGACTCTGCGACTGAGGAAGCAGGA ACCAAAGCCCACAGCGGGGAAGGCAACACAATCCTGATCTACATCCCAGA ATCCCCTACAGACTCTGTGACTGAGGAAGCAGGACCCTAAGCCCACAGCA GGGAAGGTGACACCACCCCGATCTCCATCCCGGAATCCCCTACAGACTCC GCAACTGAGGAAGCAGGACCTGAAGCCCACAGCGGGGAAGGCAACACCAT CCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02451.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0321 a0001c0001t0001g0322	2	344	0.0058	-252	c.186 others(17): Show c.186+9417_186+9668del	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/6			chr2	TogoVar
DGKB_chr7_14140049_14907751	14211644	ACTCTCAT others(245): Show ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCA TGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTG TGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATT TACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCA TGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGT GAT	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	148	0.0068	-252	c.212 others(21): Show c.2123-33745_2123-33494del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212069	TTTTACTC others(245): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTT TGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATT TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTC ATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGA	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0029 a0001c0001t0021g0029	1	148	0.0068	-252	c.212 others(21): Show c.2123-34170_2123-33919del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKH_chr13_42043648_42247896	42181816	CTGCTGGC others(245): Show CTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGC AGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGC TGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTG CTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGC TGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGC TGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(138): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0018 a0001c0024 a0001c0026 a0001c0027 a0002c0020 a0003c0011 a0004c0009 a0009c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0039 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0098 a0001c0001t0099 a0001c0001t0103 a0001c0002t0075 a0001c0003t0006 a0001c0003t0059 a0001c0003t0105 a0001c0003t0106 a0001c0003t0118 a0001c0006t0001 a0001c0006t0004 a0001c0006t0017 a0001c0006t0022 a0001c0006t0036 a0001c0006t0082 a0001c0008t0004 a0001c0008t0008 a0001c0008t0013 a0001c0008t0052 a0001c0008t0097 a0001c0018t0032 a0001c0024t0029 a0001c0026t0048 a0001c0027t0116 a0002c0020t0001 a0003c0011t0003 a0003c0011t0039 a0003c0011t0100 a0004c0009t0004 a0004c0009t0008 a0004c0009t0022 a0004c0009t0107 a0009c0021t0032	a0001c0001t0001g0130 a0001c0001t0001g0234 a0001c0001t0001g0249 others(138): Show a0001c0001t0001g0130 a0001c0001t0001g0234 a0001c0001t0001g0249 a0001c0001t0001g0299 a0001c0001t0002g0041 a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0107 a0001c0001t0002g0139 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0216 a0001c0001t0002g0233 a0001c0001t0002g0257 a0001c0001t0002g0297 a0001c0001t0003g0024 a0001c0001t0003g0065 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0124 a0001c0001t0003g0170 a0001c0001t0003g0264 a0001c0001t0004g0051 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0005g0068 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0227 a0001c0001t0012g0229 a0001c0001t0012g0232 a0001c0001t0015g0036 a0001c0001t0015g0163 a0001c0001t0015g0164 a0001c0001t0015g0166 a0001c0001t0016g0002 a0001c0001t0016g0037 a0001c0001t0016g0076 a0001c0001t0016g0286 a0001c0001t0018g0018 a0001c0001t0018g0281 a0001c0001t0021g0296 a0001c0001t0022g0263 a0001c0001t0023g0067 a0001c0001t0023g0277 a0001c0001t0029g0034 a0001c0001t0031g0289 a0001c0001t0031g0293 a0001c0001t0033g0040 a0001c0001t0033g0145 a0001c0001t0034g0039 a0001c0001t0034g0055 a0001c0001t0037g0282 a0001c0001t0039g0230 a0001c0001t0060g0020 a0001c0001t0061g0078 a0001c0001t0062g0075 a0001c0001t0063g0059 a0001c0001t0064g0267 a0001c0001t0065g0046 a0001c0001t0066g0272 a0001c0001t0067g0101 a0001c0001t0068g0314 a0001c0001t0069g0042 a0001c0001t0070g0284 a0001c0001t0071g0096 a0001c0001t0072g0102 a0001c0001t0073g0095 a0001c0001t0074g0208 a0001c0001t0079g0280 a0001c0001t0080g0057 a0001c0001t0081g0167 a0001c0001t0083g0199 a0001c0001t0084g0252 a0001c0001t0085g0266 a0001c0001t0087g0121 a0001c0001t0088g0260 a0001c0001t0089g0226 a0001c0001t0090g0250 a0001c0001t0091g0236 a0001c0001t0098g0181 a0001c0001t0099g0315 a0001c0001t0103g0303 a0001c0002t0075g0176 a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 a0001c0003t0006g0261 a0001c0003t0006g0262 a0001c0003t0006g0295 a0001c0003t0006g0304 a0001c0003t0006g0305 a0001c0003t0006g0307 a0001c0003t0006g0308 a0001c0003t0059g0311 a0001c0003t0105g0132 a0001c0003t0106g0058 a0001c0003t0118g0310 a0001c0006t0001g0109 a0001c0006t0001g0168 a0001c0006t0004g0062 a0001c0006t0004g0110 a0001c0006t0017g0111 a0001c0006t0017g0112 a0001c0006t0017g0285 a0001c0006t0017g0309 a0001c0006t0022g0038 a0001c0006t0036g0048 a0001c0006t0036g0189 a0001c0006t0082g0016 a0001c0008t0004g0131 a0001c0008t0008g0022 a0001c0008t0013g0207 a0001c0008t0052g0070 a0001c0008t0097g0195 a0001c0018t0032g0215 a0001c0024t0029g0033 a0001c0026t0048g0240 a0001c0027t0116g0211 a0002c0020t0001g0026 a0003c0011t0003g0242 a0003c0011t0003g0243 a0003c0011t0039g0256 a0003c0011t0100g0247 a0004c0009t0004g0194 a0004c0009t0008g0066 a0004c0009t0008g0294 a0004c0009t0022g0025 a0004c0009t0107g0193 a0009c0021t0032g0265	141	316	0.4462	-252	c.153 others(19): Show c.1538+3646_1538+3897del	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	13/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DLGAP2_chr8_732628_1713476	1103430	TTTGGTTA others(245): Show TTTGGTTAACGGTGATGACTGGCGGGGCCTTGGTTAACGTTGATGACTGG CGGGGCCTTGGTTGACGGTGATGACTGGCGGGGCCTTGGTTGACGGTGAT GACTGGCGGGGCCTTGGTTGACGGTGATGACTGGCGGGGCCTTGGTTGAC GGTGATGACTGGCGGGGCCTTGGTTGACGGTGATGACTGGCGGGGCCTTG GTTGACGGTGATGACTGGCGGGGCCTTGGTTGACGGTGATGACTGGCGGG GCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0019 a0002c0001t0019	a0002c0001t0019g0030 a0002c0001t0019g0030	1	40	0.0250	-252	c.74- others(19): Show c.74-155414_74-155163del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1691791	TCGGCCCT others(245): Show TCGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCT GGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAA CGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTAC CGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAG GGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGG ATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	40	0.0250	-252	c.279 others(17): Show c.2796+580_2796+831del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNLZ_chr9_136354483_136368744	136355126	TAGGGGTA others(245): Show TAGGGGTAGCCGGGTGCTGAGGGTGGGTGACACGTCCTGGGGGAGGGGTA GCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTG CCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGT GGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACA CGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGG GGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 NA19009.hp2 HG02015.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0034 a0001c0001t0024g0034	2	418	0.0048	-252	c.66 others(11): Show c.6634_*6885del	DNLZ	ENSG00000213221.5	transcript	ENST00000371738.4	protein_coding		4356		chr9	TogoVar
DPP10_chr2_114437641_115850780	115438828	TGGCTAAG others(245): Show TGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTATGATGGTC ATGGAAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGAAGCACAGTG TGGAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTA AGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGAA GCACAGTGTGGAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAAT AGC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp1 HG03195.hp2 others(1): Show HG02809.hp2 HG02896.hp1 HG03195.hp2 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0004 a0002c0001 a0003c0003 others(1): Show a0001c0004 a0002c0001 a0003c0003 a0004c0005	a0001c0004t0008 a0002c0001t0001 a0003c0003t0003 others(1): Show a0001c0004t0008 a0002c0001t0001 a0003c0003t0003 a0004c0005t0016	a0001c0004t0008g0045 a0002c0001t0001g0040 a0003c0003t0003g0048 others(1): Show a0001c0004t0008g0045 a0002c0001t0001g0040 a0003c0003t0003g0048 a0004c0005t0016g0044	4	56	0.0714	-252	c.272 others(19): Show c.272-60640_272-60389del	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNC2I1_chr7_158851558_158951189	158917316	ACTAAACA others(245): Show ACTAAACACCCCCTGCCCTCCACACTCCACCCTCCACCTCTCACTAAACA CCTCCTGTCCTCCACACTCCACCCTCTGCCTCTCACTAAACACCTCCTGT CCTCCACACTCCACCCTCCGCCTCTCGCTAAACACCTCCTGTCCTCCACA CTCCACCCTCCACCTCTCACTAAACACCTCCTGTCCTCCACACTCCACCC TCTGCCTCTCACTAAACACCTCCTGTCCTCCACACTCCACCCTCCGCCTC TCG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02976.hp2 NA19043.hp2 HG01081.hp2 HG02976.hp2 NA19043.hp2	a0002 a0003 a0002 a0003	a0002c0019 a0003c0009 a0002c0019 a0003c0009	a0002c0019t0015 a0003c0009t0011 a0002c0019t0015 a0003c0009t0011	a0002c0019t0015g0043 a0003c0009t0011g0253 a0003c0009t0011g0261 a0002c0019t0015g0043 a0003c0009t0011g0253 a0003c0009t0011g0261	3	274	0.0110	-252	c.179 others(19): Show c.1792-1348_1792-1097del	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EDDM13_chr19_56267748_56315454	56306298	ATCGCCAG others(245): Show ATCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGAT AGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTA CTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTC CCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGACAGATGGGA GATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCTTCTCCC ACG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00597.hp1 others(61): Show HG00280.hp2 HG00558.hp1 HG00597.hp1 HG01175.hp1 HG01934.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03239.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03688.hp1 HG03704.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp1 NA18955.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18985.hp2 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19006.hp1 NA19006.hp2 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19065.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp2 NA19083.hp1 NA19088.hp1 NA19091.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0009 a0001c0001 a0001c0003 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0006c0009t0004	a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0040 others(57): Show a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0192 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0307 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0341 a0001c0001t0001g0355 a0001c0001t0002g0014 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0135 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0004g0050 a0001c0001t0004g0057 a0001c0001t0004g0215 a0001c0003t0001g0191 a0001c0003t0001g0193 a0006c0009t0004g0054	64	396	0.1616	-252	c.461 others(17): Show c.461+1850_461+2101del	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EIF3B_chr7_2349827_2385745	2377691	ATGCTGTG others(245): Show ATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTG TTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGCT GGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02970.hp2 HG02976.hp1 others(2): Show HG00639.hp1 HG02970.hp2 HG02976.hp1 NA18944.hp1 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0244 a0002c0002t0001g0275 a0002c0002t0001g0342 others(2): Show a0002c0002t0001g0244 a0002c0002t0001g0275 a0002c0002t0001g0342 a0002c0002t0006g0290 a0002c0002t0006g0304	5	384	0.0130	-252	c.215 others(17): Show c.2154+617_2155-746del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
ELANE_chr19_847303_861243	853672	TTGTCAAT others(245): Show TTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAAT CAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAAC TTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAG AAGGGAGGCCCCGATCTGCTGTCAATCAACAAACTTACTGAGAAGGGAGG CCCCGATCTGTTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATC TGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01891.hp1 HG02258.hp1 others(5): Show HG00280.hp2 HG01891.hp1 HG02258.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03516.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0043 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0090	8	403	0.0199	-252	c.366 others(15): Show c.366+378_366+629del	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ERICH1_chr8_659200_736224	680123	TAGCTGCC others(245): Show TAGCTGCCACCCCTGTGAACACAGAAGATGCAAGAGAATCCACAGCTGCC ACCCCTGTGAACACAGAAGATGCAAGAGAATCCACAGCTGCCACCCCTGT GAACACAGAAAGTCCAAGAGAATCCATAGCTGCCACCCCTGTGAACACAG AAGATGCAAGAGAATCCACAGCTGCCACCCCTGTGAACACAGAAGATGCA AGAGAATCCACAGCTGCCACCCCTGTGAACACAGAAGATGCAAGAGAATC CAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02280.hp2 HG03098.hp1 others(2): Show HG01099.hp1 HG02280.hp2 HG03098.hp1 HG03490.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0001 a0002c0005t0002 a0001c0001t0002 a0002c0005t0001 a0002c0005t0002	a0001c0001t0002g0330 a0002c0005t0001g0235 a0002c0005t0001g0236 others(2): Show a0001c0001t0002g0330 a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0001g0237 a0002c0005t0002g0284	5	378	0.0132	-252	c.305 others(17): Show c.305-6328_305-6077del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC3L4_chr14_103089725_103115559	103109327	CCTCCCTC others(245): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCC TCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCT GTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTC CCT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp2 HG02559.hp2 others(12): Show HG02155.hp1 HG02155.hp2 HG02559.hp2 HG02723.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03704.hp1 NA18941.hp1 NA18943.hp2 NA18951.hp1 NA18972.hp2 NA18984.hp1 NA19085.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0020 a0031 a0043	a0001c0005 a0001c0014 a0002c0007 others(5): Show a0001c0005 a0001c0014 a0002c0007 a0003c0001 a0004c0002 a0020c0073 a0031c0053 a0043c0067	a0001c0005t0001 a0001c0014t0001 a0002c0007t0001 others(7): Show a0001c0005t0001 a0001c0014t0001 a0002c0007t0001 a0003c0001t0001 a0003c0001t0003 a0004c0002t0001 a0004c0002t0003 a0020c0073t0003 a0031c0053t0003 a0043c0067t0001	a0001c0005t0001g0187 a0001c0005t0001g0191 a0001c0014t0001g0019 others(12): Show a0001c0005t0001g0187 a0001c0005t0001g0191 a0001c0014t0001g0019 a0002c0007t0001g0019 a0003c0001t0001g0016 a0003c0001t0001g0108 a0003c0001t0001g0144 a0003c0001t0003g0121 a0003c0001t0003g0168 a0004c0002t0001g0046 a0004c0002t0003g0039 a0004c0002t0003g0107 a0020c0073t0003g0167 a0031c0053t0003g0076 a0043c0067t0001g0016	15	404	0.0371	-252	c.197 others(17): Show c.1977-702_1977-451del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109363	CCTCCCTC others(245): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCC TCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTC CCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18945.hp1 NA19043.hp2 HG00642.hp1 NA18945.hp1 NA19043.hp2	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0014 a0004c0002 a0012c0015 a0001c0014 a0004c0002 a0012c0015	a0001c0014t0001 a0004c0002t0003 a0012c0015t0003 a0001c0014t0001 a0004c0002t0003 a0012c0015t0003	a0001c0014t0001g0193 a0004c0002t0003g0034 a0012c0015t0003g0161 a0001c0014t0001g0193 a0004c0002t0003g0034 a0012c0015t0003g0161	3	404	0.0074	-252	c.197 others(17): Show c.1977-666_1977-415del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109399	CCTCCCTC others(245): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTC CCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG04228.hp2 HG01243.hp2 HG04228.hp2	a0003 a0019 a0003 a0019	a0003c0001 a0019c0069 a0003c0001 a0019c0069	a0003c0001t0001 a0019c0069t0002 a0003c0001t0001 a0019c0069t0002	a0003c0001t0001g0177 a0019c0069t0002g0155 a0003c0001t0001g0177 a0019c0069t0002g0155	2	404	0.0050	-252	c.197 others(17): Show c.1977-630_1977-379del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FAAP100_chr17_81534891_81557353	81535278	CCCACCAT others(245): Show CCCACCATCCGCATCCCCATCTCCATCCCCACCACCCCCACCCCCACCAG CCCCATCCCCATGACCACCATCCCCATCTCCACCATCTCCATCACCATCA TCGCCATCCCCATCCCCATCATCACCATCCCTATCACCACCATCCCCATC ATCACCATCCCCACCATCCGCATCCCCATCTCCATCCCCACCACCCCCAC CACCACCAGCCCCATCCCCATCACCACCATCCCCATCTCCACCATCTCCA TCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03486.hp1 NA21309.hp1 HG02976.hp1 HG03486.hp1 NA21309.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0002 a0002c0002t0003 a0007c0008t0009 a0002c0002t0002 a0002c0002t0003 a0007c0008t0009	a0002c0002t0002g0218 a0002c0002t0003g0240 a0007c0008t0009g0072 a0002c0002t0002g0218 a0002c0002t0003g0240 a0007c0008t0009g0072	3	436	0.0069	-252	c.52 others(11): Show c.5289_*5540del	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding		4612		chr17	TogoVar

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Search Results (Total: 10000 hits)