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
GATA6_chr18_22164589_22207528	22177945	TTTTTTTG TTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01891.hp2 HG02109.hp1 others(9): Show HG01074.hp2 HG01891.hp2 HG02109.hp1 HG02559.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp1 NA18522.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0004c0008t0001	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0078 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0002 a0001c0001t0002g0033 a0001c0001t0004g0027 a0004c0008t0001g0077	12	286	0.0420	-7	c.130 others(24): Show c.1302+831_1302+837delGTTTTTT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
GATAD2B_chr1_153799725_153927972	153820098	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp2 others(48): Show HG00140.hp2 HG00408.hp1 HG00438.hp2 HG00597.hp2 HG00673.hp1 HG01069.hp2 HG01070.hp2 HG01255.hp1 HG01256.hp1 HG01361.hp2 HG01943.hp1 HG01993.hp1 HG02132.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02602.hp1 HG02965.hp1 HG03017.hp1 HG03491.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp1 NA18940.hp2 NA18942.hp1 NA18948.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18966.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18994.hp2 NA18998.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19079.hp2 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0027 a0001c0001t0034 a0001c0001t0044 a0001c0001t0048 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0062 a0001c0001t0065 a0001c0001t0069	a0001c0001t0001g0043 a0001c0001t0001g0073 a0001c0001t0001g0075 others(48): Show a0001c0001t0001g0043 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0034 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0046 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0082 a0001c0001t0004g0335 a0001c0001t0006g0036 a0001c0001t0006g0044 a0001c0001t0006g0045 a0001c0001t0006g0055 a0001c0001t0006g0064 a0001c0001t0006g0066 a0001c0001t0006g0332 a0001c0001t0006g0333 a0001c0001t0009g0011 a0001c0001t0009g0035 a0001c0001t0009g0040 a0001c0001t0009g0042 a0001c0001t0009g0049 a0001c0001t0009g0050 a0001c0001t0009g0058 a0001c0001t0027g0006 a0001c0001t0034g0052 a0001c0001t0044g0081 a0001c0001t0048g0010 a0001c0001t0055g0065 a0001c0001t0056g0051 a0001c0001t0057g0048 a0001c0001t0058g0160 a0001c0001t0059g0047 a0001c0001t0062g0030 a0001c0001t0065g0076 a0001c0001t0069g0349	51	349	0.1461	-7	c.336 others(22): Show c.336-370_336-364delTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	2/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153820974	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG01975.hp1 others(3): Show HG01243.hp1 HG01884.hp1 HG01975.hp1 HG01978.hp2 HG02145.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0032 others(1): Show a0001c0001t0003 a0001c0001t0017 a0001c0001t0032 a0001c0001t0063	a0001c0001t0003g0014 a0001c0001t0003g0105 a0001c0001t0003g0138 others(3): Show a0001c0001t0003g0014 a0001c0001t0003g0105 a0001c0001t0003g0138 a0001c0001t0017g0155 a0001c0001t0032g0102 a0001c0001t0063g0153	6	349	0.0172	-7	c.336 others(24): Show c.336-1246_336-1240delAAAAAAA	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	2/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153839108	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00621.hp2 others(85): Show HG00423.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01123.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG03017.hp1 HG03098.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp1 NA18612.hp1 NA18906.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp2 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18992.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0031 a0001c0001t0043 a0001c0001t0047 a0001c0001t0051	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0020 others(85): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0340 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0273 a0001c0001t0004g0280 a0001c0001t0004g0338 a0001c0001t0007g0246 a0001c0001t0007g0248 a0001c0001t0007g0257 a0001c0001t0007g0266 a0001c0001t0007g0297 a0001c0001t0007g0298 a0001c0001t0007g0308 a0001c0001t0008g0253 a0001c0001t0008g0264 a0001c0001t0008g0268 a0001c0001t0008g0279 a0001c0001t0008g0319 a0001c0001t0008g0336 a0001c0001t0008g0337 a0001c0001t0014g0182 a0001c0001t0031g0027 a0001c0001t0031g0260 a0001c0001t0043g0092 a0001c0001t0047g0022 a0001c0001t0051g0287	88	349	0.2522	-7	c.-1- others(24): Show c.-1-10767_-1-10761delTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153876227	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01981.hp2 HG02451.hp1 others(6): Show HG01433.hp2 HG01981.hp2 HG02451.hp1 HG02895.hp2 HG02896.hp2 HG03041.hp1 HG03195.hp2 HG03486.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0001c0001t0025 a0001c0001t0027 a0001c0001t0033 a0001c0001t0067	a0001c0001t0003g0091 a0001c0001t0004g0347 a0001c0001t0007g0308 others(6): Show a0001c0001t0003g0091 a0001c0001t0004g0347 a0001c0001t0007g0308 a0001c0001t0016g0342 a0001c0001t0025g0346 a0001c0001t0027g0343 a0001c0001t0033g0341 a0001c0001t0033g0344 a0001c0001t0067g0330	9	349	0.0258	-7	c.-2+ others(24): Show c.-2+46499_-2+46505delTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153908781	GGAAAAAA GGAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02451.hp1 HG02486.hp1 others(5): Show HG01433.hp2 HG02451.hp1 HG02486.hp1 HG02895.hp2 HG02896.hp2 HG03041.hp1 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0025 others(3): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0025 a0001c0001t0027 a0001c0001t0033 a0001c0001t0067	a0001c0001t0004g0347 a0001c0001t0016g0342 a0001c0001t0025g0345 others(5): Show a0001c0001t0004g0347 a0001c0001t0016g0342 a0001c0001t0025g0345 a0001c0001t0025g0346 a0001c0001t0027g0343 a0001c0001t0033g0341 a0001c0001t0033g0344 a0001c0001t0067g0330	8	349	0.0229	-7	c.-2+ others(24): Show c.-2+13945_-2+13951delTTTTTTC	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153914227	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02451.hp1 HG02486.hp1 others(4): Show HG01433.hp2 HG02451.hp1 HG02486.hp1 HG02896.hp2 HG03041.hp1 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0025 a0001c0001t0027 others(2): Show a0001c0001t0016 a0001c0001t0025 a0001c0001t0027 a0001c0001t0033 a0001c0001t0067	a0001c0001t0016g0342 a0001c0001t0025g0345 a0001c0001t0025g0346 others(4): Show a0001c0001t0016g0342 a0001c0001t0025g0345 a0001c0001t0025g0346 a0001c0001t0027g0343 a0001c0001t0033g0341 a0001c0001t0033g0344 a0001c0001t0067g0330	7	349	0.0201	-7	c.-2+ others(22): Show c.-2+8499_-2+8505delTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GBE1_chr3_81484703_81766645	81710171	AAAGTCAT AAAGTCAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02965.hp2 HG02055.hp2 HG02109.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0016 a0001c0001t0010 a0001c0001t0016	a0001c0001t0010g0257 a0001c0001t0010g0258 a0001c0001t0016g0259 a0001c0001t0010g0257 a0001c0001t0010g0258 a0001c0001t0016g0259	3	304	0.0099	-7	c.144 others(24): Show c.144-4565_144-4559delATGACTT	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81750690	TATATGTA TATATGTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00558.hp1 others(53): Show HG00280.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00735.hp1 HG01099.hp1 HG01106.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01515.hp1 HG01891.hp2 HG01978.hp1 HG01993.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG03225.hp1 HG03239.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG04184.hp1 HG06807.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp1 NA18959.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18979.hp1 NA18988.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19060.hp2 NA19062.hp1 NA19074.hp2 NA19080.hp2 NA19086.hp2 NA19088.hp1 NA20300.hp1	a0002 a0006 a0007 others(2): Show a0002 a0006 a0007 a0008 a0009	a0002c0002 a0006c0014 a0007c0013 others(2): Show a0002c0002 a0006c0014 a0007c0013 a0008c0015 a0009c0016	a0002c0002t0001 a0002c0002t0005 a0002c0002t0006 others(5): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0006c0014t0004 a0007c0013t0006 a0008c0015t0001 a0009c0016t0001	a0002c0002t0001g0004 a0002c0002t0001g0050 a0002c0002t0001g0052 others(53): Show a0002c0002t0001g0004 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0125 a0002c0002t0005g0265 a0002c0002t0006g0099 a0002c0002t0007g0296 a0002c0002t0007g0304 a0006c0014t0004g0089 a0007c0013t0006g0066 a0008c0015t0001g0088 a0009c0016t0001g0104	56	304	0.1842	-7	c.143 others(26): Show c.143+10678_143+10684delTACATAT	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBF1_chr10_102240532_102387896	102287344	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01928.hp1 HG02040.hp1 others(7): Show HG01358.hp2 HG01928.hp1 HG02040.hp1 HG02074.hp2 HG03704.hp2 HG04228.hp1 HG04228.hp2 NA18994.hp2 NA19005.hp2 NA19079.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0014 a0004c0020 a0001c0001 a0001c0014 a0004c0020	a0001c0001t0001 a0001c0001t0003 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0014t0001 a0004c0020t0003	a0001c0001t0001g0136 a0001c0001t0001g0163 a0001c0001t0001g0168 others(7): Show a0001c0001t0001g0136 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0003g0256 a0001c0001t0003g0260 a0001c0014t0001g0167 a0004c0020t0003g0312	10	330	0.0303	-7	c.163 others(26): Show c.163+27249_163+27255delTTTTTTT	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GBF1_chr10_102240532_102387896	102293762	ATGTTTTG ATGTTTTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02965.hp2 others(2): Show HG02280.hp1 HG02486.hp1 HG02965.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0021 a0001c0004 a0001c0021	a0001c0004t0004 a0001c0021t0004 a0001c0004t0004 a0001c0021t0004	a0001c0004t0004g0004 a0001c0004t0004g0013 a0001c0004t0004g0014 others(2): Show a0001c0004t0004g0004 a0001c0004t0004g0013 a0001c0004t0004g0014 a0001c0004t0004g0017 a0001c0021t0004g0016	5	330	0.0152	-7	c.163 others(26): Show c.163+33653_163+33659delGTGTTTT	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GBF1_chr10_102240532_102387896	102322718	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp1 HG01516.hp2 others(18): Show HG01070.hp2 HG01081.hp1 HG01516.hp2 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02647.hp2 HG02698.hp2 HG02738.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp1 HG03669.hp1 NA19043.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0003 a0001c0024 others(1): Show a0001c0001 a0001c0003 a0001c0024 a0013c0009	a0001c0001t0001 a0001c0003t0001 a0001c0024t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0024t0001 a0013c0009t0001	a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 others(18): Show a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0003t0001g0109 a0001c0003t0001g0207 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0323 a0001c0024t0001g0229 a0013c0009t0001g0217	21	330	0.0636	-7	c.164 others(26): Show c.164-21313_164-21307delAAAAAAA	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GBF1_chr10_102240532_102387896	102346085	TTTTTTTA TTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00735.hp2 others(53): Show HG00544.hp1 HG00609.hp2 HG00735.hp2 HG01099.hp1 HG01123.hp1 HG01175.hp1 HG01258.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp2 HG02074.hp2 HG02135.hp2 HG02273.hp1 HG02293.hp2 HG02683.hp2 HG03017.hp1 HG03704.hp2 HG03927.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18945.hp2 NA18949.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18968.hp2 NA18971.hp2 NA18974.hp2 NA18980.hp1 NA18982.hp1 NA18986.hp2 NA18994.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19074.hp2 NA19079.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0010 a0012	a0001c0001 a0001c0014 a0002c0002 others(5): Show a0001c0001 a0001c0014 a0002c0002 a0004c0008 a0004c0020 a0005c0006 a0010c0017 a0012c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0014t0001 a0002c0002t0001 a0004c0008t0001 a0004c0020t0003 a0005c0006t0001 a0010c0017t0001 a0012c0018t0001	a0001c0001t0001g0007 a0001c0001t0001g0106 a0001c0001t0001g0107 others(53): Show a0001c0001t0001g0007 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0296 a0001c0001t0003g0274 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0014t0001g0167 a0002c0002t0001g0105 a0002c0002t0001g0108 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0188 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0206 a0004c0008t0001g0195 a0004c0008t0001g0200 a0004c0020t0003g0312 a0005c0006t0001g0157 a0005c0006t0001g0158 a0010c0017t0001g0193 a0012c0018t0001g0205	56	330	0.1697	-7	c.295 others(24): Show c.295+1904_295+1910delTTTTTTA	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	4/39			chr10	TogoVar
GBF1_chr10_102240532_102387896	102378639	AATAAAAT AATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp2 HG02647.hp2 others(7): Show HG02145.hp1 HG02559.hp2 HG02647.hp2 HG02818.hp1 HG02896.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0009 a0001c0001 a0013c0009	a0001c0001t0001 a0013c0009t0001 a0001c0001t0001 a0013c0009t0001	a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 others(7): Show a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0013c0009t0001g0217	10	330	0.0303	-7	c.449 others(24): Show c.4495-643_4495-637delTAAAATA	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	33/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GCH1_chr14_54837017_54907826	54838244	AAAAAAAG AAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01192.hp2 others(5): Show HG00140.hp2 HG00639.hp1 HG01192.hp2 HG02258.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012	a0001c0001t0002g0042 a0001c0001t0003g0309 a0001c0001t0004g0020 others(5): Show a0001c0001t0002g0042 a0001c0001t0003g0309 a0001c0001t0004g0020 a0001c0001t0006g0260 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0012g0324 a0001c0001t0012g0325	8	346	0.0231	-7	c.57 others(18): Show c.5766_*5772delCTTTTTT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding		3772		chr14	TogoVar
GCH1_chr14_54837017_54907826	54879420	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01243.hp2 others(33): Show HG00639.hp2 HG01081.hp1 HG01243.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp2 HG02135.hp2 HG02559.hp1 HG02723.hp2 HG02809.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG03669.hp2 HG03942.hp2 HG06807.hp1 NA18522.hp1 NA18948.hp2 NA18957.hp1 NA18980.hp2 NA19030.hp1 NA19043.hp2 NA19089.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0049 others(33): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0098 a0001c0001t0001g0142 a0001c0001t0002g0186 a0001c0001t0004g0014 a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0046 a0001c0001t0005g0327 a0001c0001t0005g0328 a0001c0001t0005g0329 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0005g0335 a0001c0001t0005g0337 a0001c0001t0005g0338 a0001c0001t0005g0339 a0001c0001t0013g0006 a0001c0001t0013g0007 a0001c0001t0015g0074 a0001c0001t0021g0012 a0001c0001t0022g0030 a0001c0001t0027g0340 a0001c0001t0028g0336	36	346	0.1041	-7	c.344 others(26): Show c.344-13991_344-13985delTTTTTTT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCH1_chr14_54837017_54907826	54880856	TATACTCC TATACTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00621.hp1 others(98): Show HG00408.hp2 HG00423.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18960.hp1 NA18961.hp2 NA18971.hp2 NA18977.hp1 NA18980.hp2 NA18986.hp2 NA18990.hp2 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19062.hp2 NA19086.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0049 others(94): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0252 a0001c0001t0001g0273 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0008 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0186 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0004g0014 a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0046 a0001c0001t0005g0327 a0001c0001t0005g0328 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0005g0335 a0001c0001t0005g0337 a0001c0001t0005g0338 a0001c0001t0005g0339 a0001c0001t0008g0215 a0001c0001t0008g0232 a0001c0001t0008g0288 a0001c0001t0008g0289 a0001c0001t0008g0290 a0001c0001t0008g0302 a0001c0001t0010g0250 a0001c0001t0010g0251 a0001c0001t0010g0271 a0001c0001t0013g0006 a0001c0001t0013g0007 a0001c0001t0014g0189 a0001c0001t0014g0196 a0001c0001t0015g0018 a0001c0001t0015g0074 a0001c0001t0021g0012 a0001c0001t0022g0030 a0001c0001t0025g0267 a0001c0001t0026g0285 a0001c0001t0027g0340 a0001c0001t0028g0336	101	346	0.2919	-7	c.344 others(26): Show c.344-15427_344-15421delGGAGTAT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCH1_chr14_54837017_54907826	54888679	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG01433.hp1 others(14): Show HG01081.hp1 HG01243.hp2 HG01433.hp1 HG01891.hp2 HG02109.hp2 HG02559.hp1 HG02723.hp2 HG02809.hp1 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG06807.hp1 NA19043.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 others(1): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0028	a0001c0001t0005g0327 a0001c0001t0005g0328 a0001c0001t0005g0329 others(14): Show a0001c0001t0005g0327 a0001c0001t0005g0328 a0001c0001t0005g0329 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0005g0335 a0001c0001t0005g0337 a0001c0001t0005g0338 a0001c0001t0005g0339 a0001c0001t0013g0006 a0001c0001t0013g0007 a0001c0001t0015g0018 a0001c0001t0015g0074 a0001c0001t0028g0336	17	346	0.0491	-7	c.343 others(26): Show c.343+13635_343+13641delAAAAAAA	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCM2_chr6_10868223_10887041	10884328	GAAAAAAA GAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG02965.hp1 others(5): Show HG02280.hp2 HG02622.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03540.hp1 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0014 a0002c0003t0001g0046 a0002c0003t0001g0014 a0002c0003t0001g0046	8	426	0.0188	-7	c.-25 others(18): Show c.-2542_-2536delTTTTTTT	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding		2288		chr6	TogoVar
GCNT2_chr6_10516351_10634368	10581263	ATTTATTT ATTTATTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01175.hp2 HG01192.hp1 HG01099.hp1 HG01175.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0006g0286 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0006g0286	3	324	0.0093	-7	c.926 others(26): Show c.926-40070_926-40064delATTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10605147	TAAAACAA TAAAACAA	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18973.hp2 NA19063.hp2 NA18951.hp1 NA18973.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177	3	324	0.0093	-7	c.926 others(26): Show c.926-16190_926-16184delAAAAACA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10622742	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp1 HG01361.hp2 others(18): Show HG00735.hp2 HG01175.hp1 HG01361.hp2 HG01978.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02698.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0022 others(18): Show a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0218 a0001c0001t0001g0259 a0001c0001t0003g0234 a0001c0001t0005g0026 a0001c0001t0008g0322 a0001c0001t0011g0002	21	324	0.0648	-7	c.101 others(26): Show c.1018+1321_1018+1327delTTTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10581263	ATTTATTT ATTTATTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp1 HG01192.hp2 HG01099.hp2 HG01175.hp1 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0295 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0295	3	344	0.0087	-7	c.919 others(26): Show c.919+23939_919+23945delATTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10605147	TAAAACAA TAAAACAA	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18973.hp1 NA19063.hp2 NA18951.hp1 NA18973.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0114 a0001c0001t0001g0187 a0001c0001t0001g0197	3	344	0.0087	-7	c.920 others(26): Show c.920-16190_920-16184delAAAAACA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10622742	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG01361.hp1 others(18): Show HG00735.hp2 HG01175.hp2 HG01361.hp1 HG01978.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02698.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0088 others(18): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0167 a0001c0001t0001g0213 a0001c0001t0001g0240 a0001c0001t0001g0259 a0001c0001t0001g0280 a0001c0001t0001g0288 a0001c0001t0001g0294 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0004g0268 a0001c0001t0005g0326 a0001c0001t0007g0291	21	344	0.0611	-7	c.101 others(26): Show c.1012+1321_1012+1327delTTTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GDAP2_chr1_117858485_117934621	117867527	GAAAAAAA GAAAAAAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00673.hp2 others(60): Show HG00438.hp1 HG00558.hp1 HG00673.hp2 HG01109.hp1 HG01433.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02155.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02897.hp1 HG03098.hp2 HG03654.hp1 HG03688.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18964.hp1 NA18967.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18988.hp2 NA18989.hp2 NA18995.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp2 NA19064.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0031 a0001c0002t0002 a0001c0001t0002 a0001c0001t0031 a0001c0002t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0021 others(33): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0021 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0178 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0031g0202 a0001c0002t0002g0020 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190	63	364	0.1731	-7	c.30 others(18): Show c.3035_*3041delTTTTTTT	GDAP2	ENSG00000196505.11	transcript	ENST00000369443.10	protein_coding	14/14	3035		chr1	TogoVar
GDA_chr9_72144440_72257224	72213802	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(85): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01256.hp2 HG01346.hp2 HG01433.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02683.hp2 HG02922.hp2 HG03098.hp1 HG03492.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18984.hp1 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19076.hp2 NA19082.hp1 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0018 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(82): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0103 a0001c0001t0001g0128 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0246 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0002g0023 a0001c0001t0002g0269 a0001c0001t0002g0297 a0001c0001t0005g0002 a0001c0001t0005g0013 a0001c0001t0005g0033 a0001c0001t0005g0036 a0001c0001t0005g0039 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0046 a0001c0001t0005g0052 a0001c0001t0005g0057 a0001c0001t0005g0059 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0011g0104 a0001c0001t0011g0105 a0001c0001t0011g0106 a0001c0001t0018g0294 a0001c0001t0018g0295 a0001c0001t0022g0056 a0001c0001t0029g0055 a0001c0001t0030g0027 a0001c0001t0033g0022	88	312	0.2821	-7	c.473 others(20): Show c.473-73_473-67delAAAAAAA	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GDE1_chr16_19496693_19527098	19496887	CAAAAAAA CAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01081.hp2 HG01109.hp1 others(13): Show HG00323.hp2 HG01081.hp2 HG01109.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03453.hp2 NA18948.hp2 NA19059.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0025 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0025 a0001c0003t0009 a0001c0003t0016	a0001c0001t0001g0004 a0001c0001t0001g0125 a0001c0001t0001g0177 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0125 a0001c0001t0001g0177 a0001c0001t0007g0090 a0001c0001t0007g0091 a0001c0001t0025g0106 a0001c0003t0009g0009 a0001c0003t0009g0248 a0001c0003t0009g0250 a0001c0003t0016g0247 a0001c0003t0016g0249	16	398	0.0402	-7	c.65 others(18): Show c.6576_*6582delTTTTTTT	GDE1	ENSG00000006007.12	transcript	ENST00000353258.8	protein_coding		4805		chr16	TogoVar
GDE1_chr16_19496693_19527098	19502374	CTTTTTTT CTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG01891.hp1 others(12): Show HG01109.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02818.hp1 HG03453.hp2 HG03486.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0001t0029 a0001c0003t0009 a0001c0001t0010 a0001c0001t0029 a0001c0003t0009	a0001c0001t0010g0016 a0001c0001t0010g0130 a0001c0001t0010g0131 others(4): Show a0001c0001t0010g0016 a0001c0001t0010g0130 a0001c0001t0010g0131 a0001c0001t0029g0243 a0001c0003t0009g0009 a0001c0003t0009g0248 a0001c0003t0009g0250	15	398	0.0377	-7	c.10 others(18): Show c.1089_*1095delAAAAAAA	GDE1	ENSG00000006007.12	transcript	ENST00000353258.8	protein_coding	6/6	1089		chr16	TogoVar
GDF15_chr19_18381158_18394176	18387813	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(68): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01169.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG02004.hp1 HG02027.hp1 HG02129.hp2 HG02300.hp1 HG02602.hp1 HG02698.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18947.hp2 NA18949.hp2 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18971.hp2 NA18973.hp2 NA18985.hp1 NA18989.hp2 NA18993.hp1 NA18995.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp1 NA19090.hp2 NA19091.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0014 a0003c0003 a0003c0014	a0003c0003t0001 a0003c0014t0003 a0003c0003t0001 a0003c0014t0003	a0003c0003t0001g0001 a0003c0003t0001g0029 a0003c0003t0001g0034 others(2): Show a0003c0003t0001g0001 a0003c0003t0001g0029 a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0014t0003g0001	71	424	0.1675	-7	c.278 others(22): Show c.278-453_278-447delTTTTTTT	GDF15	ENSG00000130513.7	transcript	ENST00000252809.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
GDF5_chr20_35428347_35443228	35435450	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02886.hp1 HG03017.hp1 others(6): Show HG02135.hp1 HG02886.hp1 HG03017.hp1 HG03540.hp1 HG03942.hp1 HG04184.hp1 NA18955.hp2 NA18992.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0002t0006 a0002c0003t0003 others(1): Show a0002c0002t0002 a0002c0002t0006 a0002c0003t0003 a0002c0003t0004	a0002c0002t0002g0021 a0002c0002t0006g0035 a0002c0003t0003g0022 others(1): Show a0002c0002t0002g0021 a0002c0002t0006g0035 a0002c0003t0003g0022 a0002c0003t0004g0029	9	360	0.0250	-7	c.632 others(22): Show c.632-674_632-668delTTTTTTT	GDF5	ENSG00000125965.9	transcript	ENST00000374369.8	protein_coding	1/1			chr20	TogoVar
GDI2_chr10_5760223_5818434	5773199	TAATGTTA TAATGTTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp2 HG03098.hp2 others(1): Show HG02258.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0002g0092	4	398	0.0101	-7	c.819 others(22): Show c.819+636_819+642delTAACATT	GDI2	ENSG00000057608.17	transcript	ENST00000380191.9	protein_coding	7/10			chr10	TogoVar
GDI2_chr10_5760223_5818434	5794187	AAATATAT AAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(3): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG01433.hp2 HG02818.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0182 others(3): Show a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0004g0142	6	398	0.0151	-7	c.388 others(22): Show c.388+691_388+697delATATATT	GDI2	ENSG00000057608.17	transcript	ENST00000380191.9	protein_coding	4/10			chr10	TogoVar
GDI2_chr10_5760223_5818434	5794189	ATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp1 HG01975.hp2 others(8): Show HG01192.hp2 HG01255.hp1 HG01975.hp2 HG03471.hp1 HG04115.hp1 NA18957.hp2 NA18966.hp2 NA18978.hp1 NA18985.hp2 NA19010.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0210 a0001c0001t0002g0094 a0001c0001t0003g0317 others(8): Show a0001c0001t0001g0210 a0001c0001t0002g0094 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0004g0128 a0001c0001t0004g0131 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0159 a0001c0001t0018g0157	11	398	0.0276	-7	c.388 others(22): Show c.388+689_388+695delATATATA	GDI2	ENSG00000057608.17	transcript	ENST00000380191.9	protein_coding	4/10			chr10	TogoVar
GDPD1_chr17_59215511_59280970	59222505	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02145.hp1 others(6): Show HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02559.hp2 HG02896.hp1 HG03130.hp2 HG03225.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0023 a0001c0001t0008 a0001c0001t0019 a0001c0001t0023	a0001c0001t0008g0066 a0001c0001t0008g0069 a0001c0001t0008g0070 others(6): Show a0001c0001t0008g0066 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0074 a0001c0001t0019g0068 a0001c0001t0019g0073 a0001c0001t0023g0067	9	312	0.0289	-7	c.142 others(24): Show c.142+1774_142+1780delTTTTTTT	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD1_chr17_59215511_59280970	59260060	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01071.hp1 others(35): Show HG00735.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01515.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp2 HG02293.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG03139.hp1 HG03225.hp1 HG03516.hp2 HG03688.hp2 HG03942.hp2 HG04228.hp1 HG06807.hp2 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18956.hp2 NA18977.hp1 NA18978.hp1 NA18991.hp2 NA19000.hp1 NA19009.hp2 NA19056.hp2 NA19077.hp2 NA19084.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0006t0002	a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 others(35): Show a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0198 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0233 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0003g0285 a0001c0001t0007g0234 a0001c0001t0007g0235 a0001c0001t0007g0240 a0001c0001t0007g0244 a0001c0001t0011g0236 a0001c0001t0011g0238 a0001c0001t0013g0036 a0001c0001t0014g0177 a0001c0001t0014g0186 a0001c0001t0014g0220 a0001c0001t0016g0028 a0001c0006t0002g0222	38	312	0.1218	-7	c.576 others(24): Show c.576+2254_576+2260delAAAAAAA	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD4_chr11_77211558_77306686	77222061	CTTTCCAT CTTTCCAT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02698.hp1 HG01168.hp1 HG01169.hp1 HG02698.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0085 a0003c0003t0002g0083 a0003c0003t0002g0084 a0001c0001t0002g0085 a0003c0003t0002g0083 a0003c0003t0002g0084	3	350	0.0086	-7	c.152 others(26): Show c.1526-4754_1526-4748delATGGAAA	GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	16/16			chr11	TogoVar
GDPGP1_chr15_90229209_90250811	90243640	GTTTTTTT GTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG01109.hp2 others(9): Show HG00544.hp1 HG00735.hp2 HG01109.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02293.hp2 HG02300.hp2 NA18943.hp1 NA18960.hp1 NA18989.hp1 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0059 a0001c0001t0066 a0001c0001t0007 a0001c0001t0059 a0001c0001t0066	a0001c0001t0007g0002 a0001c0001t0007g0031 a0001c0001t0007g0043 others(5): Show a0001c0001t0007g0002 a0001c0001t0007g0031 a0001c0001t0007g0043 a0001c0001t0007g0087 a0001c0001t0007g0091 a0001c0001t0007g0094 a0001c0001t0059g0002 a0001c0001t0066g0044	12	438	0.0274	-7	c.15 others(18): Show c.1598_*1604delTTTTTTT	GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding	4/4	1598	INFO_REALIGN_3_PRIME	chr15	TogoVar
GEMIN7_chr19_45074260_45096518	45085863	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00544.hp1 others(79): Show HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG01109.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18967.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18993.hp2 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19012.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0017 others(33): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0006g0103 a0001c0001t0006g0156	82	420	0.1952	-7	c.-8- others(22): Show c.-8-4228_-8-4222delTTTTTTT	GEMIN7	ENSG00000142252.11	transcript	ENST00000270257.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
GEMIN8_chrX_14001726_14034892	14011516	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	273	0.0037	-7	c.473 others(24): Show c.473-2354_473-2348delAAAAAAA	GEMIN8	ENSG00000046647.14	transcript	ENST00000680255.1	protein_coding	4/4			chrX	TogoVar
GEMIN8_chrX_14001726_14034892	14016844	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01975.hp2 HG01978.hp2 others(7): Show HG00597.hp1 HG01975.hp2 HG01978.hp2 HG04228.hp1 NA18946.hp2 NA18948.hp1 NA19010.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0015 a0002c0002t0002g0032 a0002c0002t0002g0050 others(4): Show a0002c0002t0002g0015 a0002c0002t0002g0032 a0002c0002t0002g0050 a0002c0002t0002g0188 a0002c0002t0002g0190 a0002c0002t0002g0192 a0002c0002t0007g0189	10	273	0.0366	-7	c.472 others(24): Show c.472+3227_472+3233delTTTTTTT	GEMIN8	ENSG00000046647.14	transcript	ENST00000680255.1	protein_coding	4/4			chrX	TogoVar
GEMIN8_chrX_14001726_14034892	14021913	TATGTATA TATGTATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02258.hp1 others(4): Show HG01884.hp2 HG02055.hp1 HG02258.hp1 HG03098.hp1 HG03209.hp1 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0001 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0028 a0001c0001t0001g0080 a0001c0001t0001g0165 others(3): Show a0001c0001t0001g0028 a0001c0001t0001g0080 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0009g0166 a0001c0001t0011g0054	7	273	0.0256	-7	c.-33 others(22): Show c.-33-409_-33-403delTATACAT	GEMIN8	ENSG00000046647.14	transcript	ENST00000680255.1	protein_coding	2/4			chrX	TogoVar
GEM_chr8_94244253_94267319	94246845	CTAATGAA CTAATGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(30): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00733.hp2 HG01106.hp2 HG01516.hp2 HG01517.hp1 HG02027.hp1 HG02135.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 NA18948.hp2 NA18956.hp2 NA18960.hp2 NA18962.hp2 NA18970.hp2 NA18971.hp2 NA18983.hp1 NA18988.hp2 NA18990.hp1 NA18999.hp2 NA19030.hp2 NA19054.hp2 NA19065.hp2 NA19080.hp2 NA19084.hp1 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0002c0012 others(2): Show a0001c0001 a0002c0002 a0002c0012 a0004c0004 a0005c0006	a0001c0001t0003 a0001c0001t0007 a0002c0002t0003 others(4): Show a0001c0001t0003 a0001c0001t0007 a0002c0002t0003 a0002c0002t0011 a0002c0012t0019 a0004c0004t0007 a0005c0006t0003	a0001c0001t0003g0100 a0001c0001t0007g0072 a0002c0002t0003g0003 others(5): Show a0001c0001t0003g0100 a0001c0001t0007g0072 a0002c0002t0003g0003 a0002c0002t0003g0044 a0002c0002t0011g0046 a0002c0012t0019g0111 a0004c0004t0007g0058 a0005c0006t0003g0045	33	412	0.0801	-7	c.34 others(18): Show c.3458_*3464delTTCATTA	GEM	ENSG00000164949.8	transcript	ENST00000297596.3	protein_coding		2407		chr8	TogoVar
GET1_chr21_39375326_39402889	39378596	TTTCTTTC TTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01169.hp2 HG02622.hp2 others(1): Show HG01070.hp1 HG01169.hp2 HG02622.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0075 others(1): Show a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0075 a0001c0001t0004g0017	4	338	0.0118	-7	c.-17 others(18): Show c.-1788_-1782delTTCTTTC	GET1	ENSG00000182093.16	transcript	ENST00000649170.1	protein_coding		1729		chr21	TogoVar
GFI1B_chr9_132973694_132996687	132979246	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp1 HG01433.hp2 others(4): Show HG00735.hp2 HG01192.hp1 HG01433.hp2 HG01496.hp2 HG02451.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0040 a0001c0001t0002g0120 a0001c0001t0002g0121 others(3): Show a0001c0001t0001g0040 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0003g0122	7	476	0.0147	-7	c.-21 others(22): Show c.-21+427_-21+433delTTTTTTT	GFI1B	ENSG00000165702.15	transcript	ENST00000372122.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
GFOD1_chr6_13352830_13492600	13428512	TGCGATGC TGCGATGC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp1 HG01255.hp2 others(56): Show HG00741.hp2 HG01192.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18979.hp2 NA18986.hp2 NA19003.hp1 NA19005.hp1 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(44): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0035 a0001c0001t0040 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0051 a0001c0001t0052 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0069 a0001c0001t0083 a0001c0001t0084 a0001c0001t0109 a0001c0001t0113 a0001c0001t0115 a0001c0001t0117 a0001c0001t0119 a0001c0001t0120 a0001c0001t0122 a0001c0001t0127 a0001c0001t0130 a0001c0001t0131 a0001c0001t0134 a0001c0001t0141 a0001c0002t0008 a0001c0002t0049 a0001c0002t0056 a0001c0003t0025 a0001c0004t0019 a0001c0004t0085	a0001c0001t0002g0157 a0001c0001t0004g0005 a0001c0001t0004g0008 others(56): Show a0001c0001t0002g0157 a0001c0001t0004g0005 a0001c0001t0004g0008 a0001c0001t0004g0010 a0001c0001t0004g0015 a0001c0001t0005g0103 a0001c0001t0006g0051 a0001c0001t0006g0053 a0001c0001t0006g0158 a0001c0001t0006g0162 a0001c0001t0009g0190 a0001c0001t0009g0196 a0001c0001t0011g0006 a0001c0001t0011g0034 a0001c0001t0013g0089 a0001c0001t0016g0024 a0001c0001t0017g0021 a0001c0001t0017g0023 a0001c0001t0021g0048 a0001c0001t0022g0069 a0001c0001t0022g0127 a0001c0001t0024g0113 a0001c0001t0035g0007 a0001c0001t0040g0003 a0001c0001t0042g0028 a0001c0001t0045g0022 a0001c0001t0046g0030 a0001c0001t0047g0025 a0001c0001t0048g0032 a0001c0001t0051g0035 a0001c0001t0052g0036 a0001c0001t0062g0077 a0001c0001t0063g0120 a0001c0001t0064g0070 a0001c0001t0065g0058 a0001c0001t0067g0159 a0001c0001t0069g0151 a0001c0001t0083g0122 a0001c0001t0084g0054 a0001c0001t0109g0194 a0001c0001t0113g0174 a0001c0001t0115g0192 a0001c0001t0117g0173 a0001c0001t0119g0191 a0001c0001t0120g0187 a0001c0001t0122g0168 a0001c0001t0127g0212 a0001c0001t0130g0200 a0001c0001t0131g0199 a0001c0001t0134g0227 a0001c0001t0141g0228 a0001c0002t0008g0052 a0001c0002t0049g0037 a0001c0002t0056g0072 a0001c0003t0025g0188 a0001c0003t0025g0195 a0001c0004t0019g0166 a0001c0004t0019g0167 a0001c0004t0085g0165	59	230	0.2565	-7	c.253 others(26): Show c.253+58119_253+58125delGCATCGC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD2_chr16_67669536_67724316	67694987	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp1 HG01071.hp2 others(13): Show HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01346.hp2 HG01433.hp2 HG02622.hp1 HG02886.hp1 HG02896.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0005 a0001c0001t0002g0019 a0001c0001t0002g0020 others(12): Show a0001c0001t0002g0005 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0005g0132 a0001c0001t0005g0133	16	186	0.0860	-7	c.-87 others(24): Show c.-87-9192_-87-9186delAAAAAAA	GFOD2	ENSG00000141098.13	transcript	ENST00000268797.12	protein_coding	1/2			chr16	TogoVar
GFRA1_chr10_116051925_116278206	116166780	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02717.hp1 HG02723.hp1 others(3): Show HG00738.hp2 HG02717.hp1 HG02723.hp1 HG02965.hp2 HG03540.hp2 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0001c0012 a0002c0003 others(1): Show a0001c0005 a0001c0012 a0002c0003 a0003c0006	a0001c0005t0133 a0001c0012t0009 a0002c0003t0039 others(3): Show a0001c0005t0133 a0001c0012t0009 a0002c0003t0039 a0002c0003t0048 a0002c0003t0092 a0003c0006t0001	a0001c0005t0133g0214 a0001c0012t0009g0168 a0002c0003t0039g0207 others(3): Show a0001c0005t0133g0214 a0001c0012t0009g0168 a0002c0003t0039g0207 a0002c0003t0048g0171 a0002c0003t0092g0166 a0003c0006t0001g0047	6	214	0.0280	-7	c.434 others(26): Show c.434-41230_434-41224delAAAAAAA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116166808	TTTTTTTG TTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp2 HG02135.hp2 others(2): Show HG01261.hp1 HG02109.hp2 HG02135.hp2 HG03453.hp2 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0044 a0001c0001t0047 a0001c0002t0079 others(2): Show a0001c0001t0044 a0001c0001t0047 a0001c0002t0079 a0001c0002t0081 a0002c0004t0006	a0001c0001t0044g0209 a0001c0001t0047g0169 a0001c0002t0079g0014 others(2): Show a0001c0001t0044g0209 a0001c0001t0047g0169 a0001c0002t0079g0014 a0001c0002t0081g0012 a0002c0004t0006g0070	5	214	0.0234	-7	c.434 others(26): Show c.434-41258_434-41252delCAAAAAA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116186566	CTCTTAAA CTCTTAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG03195.hp2 others(1): Show HG01243.hp1 HG02451.hp2 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0014 a0001c0001t0036 a0001c0001t0043 others(1): Show a0001c0001t0014 a0001c0001t0036 a0001c0001t0043 a0001c0005t0068	a0001c0001t0014g0147 a0001c0001t0036g0172 a0001c0001t0043g0206 others(1): Show a0001c0001t0014g0147 a0001c0001t0036g0172 a0001c0001t0043g0206 a0001c0005t0068g0175	4	214	0.0187	-7	c.433 others(26): Show c.433+25058_433+25064delTTTAAGA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar

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