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
ZNF589_chr3_48236104_48275990	48269005	CTCAGGGG others(413): Show CTCAGGGGAGAAGCCTTATGTGTGTGGGGAATGTGGGCGGGGATTTAGCC GGAGGATAGTCCTCAATGGACACTGGAGGACACACACGGGAGAGAAGCCT TACACGTGCTTTGAGTGTGGGCGAAACTTTAGCCTCAAGTCCGCTCTTAG TGTACATCAGAGGATACACTCTGGGGAGAAGCCTTATGCATGCACGGAGT GTGGGCAAGGCTTTATCACGAAATCACAGCTCATCAGACACCAGAGGACA CACACAGGAGAAAAGCCTTATGTCTGCGGAGAGTGTGGGCGAGGCTTTAT AGCTCAGTCAACCCTCCACTACCACCGGAGTACACACTCCAAGGAAAAAC CTTATGTGTGCAGCCAGTGTGGGCGAGGCTTTTGTGATAAATCAACTCTC CTCGCACACGAGCAGACACAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0017 a0001c0001t0016g0017	1	304	0.0033	-420	c.26 others(9): Show c.265_*684del	ZNF589	ENSG00000164048.14	transcript	ENST00000354698.8	protein_coding	4/4	265	INFO_REALIGN_3_PRIME	chr3	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235624	CGTGGGCC others(413): Show CGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGTCTC CACTCCAGCCTCTGATGGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGA TGGATGGTGGGCCAAGCCTCCACTCCAGTCTCTGATGGACGGTGGGCCAA GTCTCCACTCCAGCCTCTGATGGACAGTGGGCCAAGTCTCCACTCCAGCC TCTGATGGACGGTGGGCCAAGCCTCCACTCCAGCCTCTGATGGACGGTGG GCCAAGCCTCCATTCCAGCCTCTGATGGACGGTGGGCCAAGTCTCCACTC CAGCCTCTGATGGATGGTGGGCCAAGCCTCCACTCCAGCCTCTGATGGAC GGTGGGCCAAGCCTCCACTCCAGCCTCTGATTGACCGTGGGCCAAGCCTC CACTCCAACCTCTGATGGACG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(119): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02074.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0002c0002 a0002c0011 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0001c0006t0001 a0001c0010t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0011t0001 a0004c0005t0001 a0004c0005t0003	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0021 others(118): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0341 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0004g0005 a0001c0001t0007g0084 a0001c0001t0008g0311 a0001c0003t0001g0041 a0001c0003t0001g0147 a0001c0003t0001g0191 a0001c0003t0001g0328 a0001c0003t0001g0329 a0001c0003t0001g0331 a0001c0006t0001g0228 a0001c0010t0002g0035 a0002c0002t0001g0097 a0002c0002t0001g0126 a0002c0002t0001g0214 a0002c0002t0001g0256 a0002c0002t0001g0303 a0002c0002t0001g0305 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0037 a0002c0002t0006g0014 a0002c0011t0001g0312 a0004c0005t0001g0179 a0004c0005t0003g0003	122	362	0.3370	-420	c.-12 others(21): Show c.-127-10871_-127-10452del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56306373	CTCTCCCA others(413): Show CTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCT TCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGCCA GAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTACA AAGAGGCTCCTCCCTGGCTTCTCCCACGTCGCCAGAGAAAGTACTAAGGA CAGATGGGAGATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTG GCCTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCT CTTCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGC CAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTA CAAAGAGGCTCCTCCCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp2 HG01255.hp1 others(9): Show HG00544.hp1 HG00741.hp2 HG01255.hp1 HG01261.hp2 HG01952.hp2 HG03654.hp2 HG03834.hp1 HG04199.hp1 NA18952.hp1 NA18961.hp2 NA18973.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 a0002c0002t0002 a0002c0002t0006 a0007c0013t0002	a0001c0001t0001g0150 a0001c0001t0002g0008 a0001c0001t0002g0009 others(9): Show a0001c0001t0001g0150 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0039 a0001c0006t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0006g0014 a0007c0013t0002g0013	12	362	0.0332	-420	c.-12 others(19): Show c.-128+6490_-128+6909del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56306636	CGCCAGAG others(413): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTAT CTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACT AAGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCT CCCTGGCTTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGA TTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCAC GTCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTTGAT AGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTA CTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTC CCCCCCGGCCTCTCCCCTGTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG02717.hp1 others(1): Show HG01891.hp1 HG02622.hp2 HG02717.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 others(1): Show a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0003t0001g0191	4	362	0.0111	-420	c.-12 others(19): Show c.-128+6227_-128+6646del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ACAP3_chr1_1287391_1312930	1289617	CCGTGTCT others(412): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	295	0.0034	-419	c.35 others(11): Show c.3528_*3946del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2773		chr1	TogoVar
ARHGAP8_chr22_44747575_44867784	44800786	GGGGGCCG others(412): Show GGGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCC GCAGCTGTCCGTGTGTGGGGGGCGCCTCTCCCCGCAGCTGTCCGTGTGTG GGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCG CAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGG GGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGC AGCTGTGTGGGGGCACCTCTCCCCGCAGCTGTCCATGTGTGAGGGGCACC TCTCCCCGCAGCTGTCCATGTGTGGGGGCACCTCTCCCCGCAGCTGTCCA TGTGTGGGGGCACCTCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCT CCCCGCAGCTGTCCATGTGT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0005 a0009c0026t0005	a0009c0026t0005g0019 a0009c0026t0005g0019	1	390	0.0026	-419	c.80- others(14): Show c.80-1286_80-868del	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
B4GALNT4_chr11_364499_387117	384971	GAACCCCC others(412): Show GAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAG CCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACC CACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCC TGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCAC AGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGA CCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGG CCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCC ACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAA GACCCACTCCCAGGCCTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0034 a0010c0017t0001g0034	1	184	0.0054	-419	c.31 others(11): Show c.3180_*3598del	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		2855		chr11	TogoVar
DDX51_chr12_132131594_132149319	132135814	CCCGAGTG others(412): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCA CCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCC TCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGT GTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCT CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCC GGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-419	c.30 others(11): Show c.3039_*3457del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		779		chr12	TogoVar
DLGAP2_chr8_732628_1713476	1691978	GGTACCGA others(412): Show GGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGA GGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGA GGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATA CGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTG GTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAAC GCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACC GAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGG GAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGA TACGGCCCTGGTTTAAACGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	40	0.0250	-419	c.279 others(17): Show c.2796+354_2796+772del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJC5_chr20_63890126_63941011	63919621	CACATGTG others(412): Show CACATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGACGCACCCGGC TGTGTGGACATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGACGCA CAGGACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCC AGGGCCCGGGACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACAT GTGCCCAGGGCCCGGGACAGCGCCATGGAAGAGGACGCACCCGGCTGTGT GCACATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGACGCACCCGG CTGTGTGCACATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGATGC ACCCGGCTGTGTGGACATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGA GGACGCACCCGGCTGTGTGG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp1 HG02976.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	372	0.0054	-419	c.-11 others(17): Show c.-11-8575_-11-8157del	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
IL3RA_chrX_1331785_1387689	1365774	GGTGAGCG others(412): Show GGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTGC GCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGCGCGGG GTGAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAG CGGGGTGAGCGGGGTGCGGGGTGCGCGGTGCGCGGGGTGAGCGGGGTGCG CGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGG TGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGC GGGGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGT GCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCG GGGTGCGCGGGGTGCGCGGC	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0078	1	115	0.0087	-419	c.874 others(15): Show c.874+529_874+947del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
L3MBTL4_chr18_5949717_6419911	5996985	TTAGAAGC others(412): Show TTAGAAGCACAATTGATCCTCAGTATCCATGTCATGGATTCAACCAATTG CAGGTTGAAAATACTTGGGAAAAAACTAAACAATAAAAAACATTACAATA GTAAAAACACTACAAGTAAAAAAGCAATTAAGTATTAATATAATAACTGT GTACTTTGCATTTACGCTGTGTTAGGTATAAGTAATCTAGAGATGATTTT AAGTATGTGAAAGGAAAATAAATCTCAGGTCCCCAAAATCACTAAATCAA GGGAAAAGTAAAGCTGGGAACACTCAAGCTGTGAACTATGTCAGGCAAAC TCGCCTCCCATCTTATTCCTAAACAAAATAGTGACAGAGATTCAAAAGCT ACACACCTTCCTCACAATTTGCCCATCAGGAAATTCCTTGTGGACAAAGG ACAGACAGAACTCAAAGTCA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02622.hp1 HG03486.hp2 others(5): Show HG01952.hp1 HG02622.hp1 HG03486.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0004t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0004t0006 a0002c0002t0001	a0001c0001t0002g0052 a0001c0001t0002g0072 a0001c0001t0004g0076 others(5): Show a0001c0001t0002g0052 a0001c0001t0002g0072 a0001c0001t0004g0076 a0001c0004t0006g0087 a0002c0002t0001g0008 a0002c0002t0001g0013 a0002c0002t0001g0054 a0002c0002t0001g0084	8	94	0.0851	-419	c.144 others(21): Show c.1445-27842_1445-27424del	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
SAMD11_chr1_918923_949574	934092	AGGGGAGG others(412): Show AGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCG GCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTC CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0008 a0005c0007t0008	a0005c0007t0008g0276 a0005c0007t0008g0276	1	434	0.0023	-419	c.843 others(17): Show c.843-1675_843-1257del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289617	CCGTGTCT others(412): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0024 a0024	a0024c0033 a0024c0033	a0024c0033t0009 a0024c0033t0009	a0024c0033t0009g0278 a0024c0033t0009g0278	1	290	0.0035	-419	c.166 others(17): Show c.1663-652_1663-234del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEH1L_chr18_12943011_12992531	12979967	ACCTCCCG others(412): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGCGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGCGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGG CTGTCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCACCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCCCCCACCTCCCTCCCG GTCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCAGGGCGG GGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01981.hp2 HG02004.hp2 others(9): Show HG01192.hp2 HG01981.hp2 HG02004.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG03704.hp1 HG04199.hp2 NA18943.hp1 NA18956.hp1 NA19055.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0001c0001t0001 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0020 a0001c0001t0001g0047 a0001c0001t0001g0135 others(9): Show a0001c0001t0001g0020 a0001c0001t0001g0047 a0001c0001t0001g0135 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0003t0001g0360 a0001c0007t0001g0233 a0001c0007t0001g0236	12	388	0.0309	-419	c.761 others(17): Show c.761+1104_761+1522del	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
TUBGCP2_chr10_133273635_133313872	133291841	CCTCCGTG others(412): Show CCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAG CATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCC GTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAG GGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGT CCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCC CTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGG GAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGT GTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTAC GGGAGAGGGCAGCATGCACA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0040 a0001c0004t0002g0040	1	284	0.0035	-419	c.121 others(17): Show c.1214+239_1214+657del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZNF516_chr18_76352682_76500242	76394311	AGGTGGTC others(412): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03490.hp1 HG03492.hp1 HG02300.hp2 HG03490.hp1 HG03492.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0015 a0003c0007t0088 a0001c0001t0015 a0003c0007t0088	a0001c0001t0015g0142 a0001c0001t0015g0143 a0003c0007t0088g0108 a0001c0001t0015g0142 a0001c0001t0015g0143 a0003c0007t0088g0108	3	346	0.0087	-419	c.181 others(21): Show c.1811-14427_1811-14009del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ANKRD11_chr16_89262630_89495561	89400336	CGGTCATC others(411): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCT TCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGG GGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATC TGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGG CTTCCCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02809.hp1 others(1): Show HG02109.hp2 HG02572.hp1 HG02809.hp1 HG02965.hp2	a0001 a0008 a0029 a0001 a0008 a0029	a0001c0018 a0008c0021 a0008c0059 others(1): Show a0001c0018 a0008c0021 a0008c0059 a0029c0049	a0001c0018t0001 a0008c0021t0002 a0008c0059t0001 others(1): Show a0001c0018t0001 a0008c0021t0002 a0008c0059t0001 a0029c0049t0001	a0001c0018t0001g0266 a0008c0021t0002g0267 a0008c0059t0001g0264 others(1): Show a0001c0018t0001g0266 a0008c0021t0002g0267 a0008c0059t0001g0264 a0029c0049t0001g0265	4	310	0.0129	-418	c.-60 others(19): Show c.-60+17530_-60+17947del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
B4GALNT4_chr11_364499_387117	384901	ACACAGCT others(411): Show ACACAGCTGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGC AAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCC CAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAAC CCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGG GCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACT CCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGA ACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCC GGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCA CTCCCAGGCCTGGAACCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG01106.hp2 others(36): Show HG00099.hp2 HG00544.hp1 HG01106.hp2 HG01258.hp2 HG01358.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02148.hp2 HG02300.hp1 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03688.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18947.hp2 NA18952.hp1 NA18963.hp2 NA18966.hp1 NA18970.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19057.hp2 NA19064.hp1 NA19081.hp1 NA19085.hp1 NA19087.hp2	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0008 a0009 a0021 a0022 a0023	a0001c0001 a0001c0003 a0002c0002 others(7): Show a0001c0001 a0001c0003 a0002c0002 a0002c0033 a0005c0009 a0008c0013 a0009c0019 a0021c0031 a0022c0029 a0023c0035	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0002c0002t0001 a0002c0033t0001 a0005c0009t0001 a0008c0013t0001 a0009c0019t0001 a0021c0031t0001 a0022c0029t0001 a0023c0035t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0003t0001g0073 others(36): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0003t0001g0073 a0001c0003t0001g0105 a0001c0003t0001g0130 a0001c0003t0001g0176 a0001c0003t0003g0015 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0050 a0002c0002t0001g0106 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0150 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0179 a0002c0033t0001g0144 a0005c0009t0001g0131 a0005c0009t0001g0138 a0008c0013t0001g0033 a0009c0019t0001g0066 a0021c0031t0001g0059 a0022c0029t0001g0135 a0023c0035t0001g0005	39	184	0.2120	-418	c.31 others(11): Show c.3110_*3527del	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		2785		chr11	TogoVar
CACNA1H_chr16_1148106_1226768	1190926	TTTCGCTG others(411): Show TTTCGCTGACCCAGCATGCTGGCCTGGTTGTGTGGCCTCAGGCACACTCG GGGTTTCGGTGACCCAGCAGGCTGCCCTGGCTGTGTGGCCTCAGGCACAC TCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACA CTCGGGGTCTCTCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGC ACACTCGGGGTCTCTCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCA GGCACACTCGGGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCC TCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGC CTCAGGCACACTCGGGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGT GGCCTCCGGCACACTCGGG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03516.hp2 HG02109.hp2 HG03516.hp2	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0020 a0003c0022t0028 a0003c0022t0020 a0003c0022t0028	a0003c0022t0020g0025 a0003c0022t0028g0026 a0003c0022t0020g0025 a0003c0022t0028g0026	2	338	0.0059	-418	c.300 others(17): Show c.300-4045_300-3628del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88954349	GCTCCTGA others(411): Show GCTCCTGACCTCACCCAAGGCTCCTGACCCCACCCAAGACTCCTGACCCT ACCCAAGACTCCTGACCCCACCCAAGGCTCCTGACCCCATCCAAGGCTCC TGACCCCAGCCAAGTGTCCTGACCCCAGCCAAGGCTCCTGACCCCGCCCA AGGCTCCTGACCTCAGCCAAGGCTCCTGACTCCACCCAAGGCTCCTGACC TCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCGCCCAAGGCT CCTGACCTCAGCCAAGGCTCCTGACTCCACCCAAGGCTCCTGACCTCAGC CAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCGCCCAAGGCTCCTGA CCTCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGG CTCCTGACCTCAGCCAAGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0007 a0001c0003t0011g0007	1	284	0.0035	-418	c.151 others(19): Show c.151+21890_151+22307del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CDC34_chr19_526760_547087	540269	GCCCCCCG others(411): Show GCCCCCCGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTT AGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGG CCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGT TTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGA GGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGC CAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGG GTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCG GAGGCCGGGGTGGCCAGGC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02630.hp1 others(4): Show HG02280.hp2 HG02486.hp2 HG02630.hp1 HG03098.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	7	328	0.0213	-418	c.498 others(16): Show c.498-1064_498-647del	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DIAPH1_chr5_141510021_141624000	141594623	ATCCCAGC others(411): Show ATCCCAGCTACTTGGGAGGCTGAGGTATGAGAATCGCTTGAACCTGGGAG GCAGAGGTTGCAGTGAGCCAAGATCGAGCCACTGCACTCCAGCCTGGGTG ACGGAGCAAGACCCAGTCTCAAAAAAAGGAAAAGGCGGCCAGGTGCGGTG GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATTCC CTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTTGTGAAATCTCTTC TCTAATAACAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAAT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAAACCGGGAAGC AGAGGTTGCTGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGAC AAGAGCGAAACTCCATCTC	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	336	0.0030	-418	c.118 others(17): Show c.118-6791_118-6374del	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DLGAP2_chr8_732628_1713476	1240786	GTTTCTAG others(411): Show GTTTCTAGTTCTTTCACATGGCGCCATGTCTAGTTACCTCTCACATGGTG CCATGTGTAGTTCTCTCTCACACATAGTGTCATGTCTAGTTCTCTCTCAC ACAGAGTATCGTGTCTAGTTCTCTCACATGGCACTGTGTCTAGTTCTCTC ACATGGCGCCGTGTCTAGTTCTCTTACATGGCGCCGTGTCTAGTTCTCTC ACATGGTGCTGTGTCTAGTTCTCTCTCACACATAGCGTCATGTATAGTTC TGTCTCACACAGAGCATCGTGTCTGGTTCTCTCACATGGTGACGTGTCTA GTTCTCTCACATGGCGCCGTGTCTGGTTCTCTCGCATGGCGCCGTGTCTA GTTCTCTCACGTGGTGCCATGTCTAGTTCTCTCACGTGGCGCCGTGTCTC GTTCTCTCACATGGAGCCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01071.hp2 others(17): Show HG00639.hp1 HG01071.hp1 HG01071.hp2 HG01496.hp1 HG01496.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG02922.hp2 HG03486.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(5): Show a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0002c0001 a0002c0004 a0002c0006 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 others(16): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0001c0003t0001 a0001c0003t0006 a0001c0003t0017 a0001c0009t0012 a0001c0012t0004 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0011 a0002c0001t0019 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0003c0005t0004	a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0009g0039 others(17): Show a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0003t0001g0025 a0001c0003t0006g0033 a0001c0003t0017g0004 a0001c0009t0012g0006 a0001c0012t0004g0036 a0002c0001t0002g0013 a0002c0001t0003g0017 a0002c0001t0003g0022 a0002c0001t0005g0028 a0002c0001t0011g0001 a0002c0001t0019g0030 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0003c0005t0004g0037	20	40	0.5000	-418	c.74- others(17): Show c.74-18063_74-17646del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137566388	TGGGTGAC others(411): Show TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	340	0.0029	-418	c.641 others(17): Show c.641-1652_641-1235del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
GRIP1_chr12_66342431_66684076	66522884	AGAAGCCT others(411): Show AGAAGCCTCAGGAGCCGATGCGCTCAACTGGAAGAAAGAGTATCAGTGAT GGAAGATGAAATGAATGAAATGAAGCAAGAAGGGAAATTCAGAGAAAAAA GAATAAAAAGAAACAAACAAAGCCTCCAAGAAATATGGGACTATGTGAAA AGACCAAATCTACGTCTGACTGGTGTACCTGAAAGTGATGGGGAGAATGG AATCAAGTGGGAAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCA ATCTAGCAAGGCAGGCCAACATTCAGATTCAGGAAATACAGAGAACACCA CAAAGATACTCCTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATT CACCAAAGTTGAAATGAAGGAAAAAATGTTAAAGGCAGCCAGAGAGAAAG GTCGGGTTACCCACAAAGG	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	1	224	0.0045	-418	c.503 others(17): Show c.503-5326_503-4909del	GRIP1	ENSG00000155974.14	transcript	ENST00000359742.9	protein_coding	5/24			chr12	TogoVar
GZMM_chr19_539053_554922	540269	GCCCCCCG others(411): Show GCCCCCCGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTT AGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGG CCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGT TTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGA GGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGC CAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGG GTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCG GAGGCCGGGGTGGCCAGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02486.hp2 others(5): Show HG02109.hp1 HG02280.hp2 HG02486.hp2 HG02630.hp1 HG03098.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0021 a0001c0001 a0013c0021	a0001c0001t0001 a0013c0021t0001 a0001c0001t0001 a0013c0021t0001	a0001c0001t0001g0038 a0001c0001t0001g0153 a0001c0001t0001g0154 others(4): Show a0001c0001t0001g0038 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0013c0021t0001g0156	8	398	0.0201	-418	c.-38 others(11): Show c.-3802_-3385del	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3783		chr19	TogoVar
LMNB2_chr19_2423166_2461959	2432826	GTCACCCC others(411): Show GTCACCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCCGGTCTTTCC GGTCACCTTGTCCCCTGCCTCGCATTGGCCGGCGGCCCCGTCACCCTGAC CCTGGTCACCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCCGGTCT TTCCGGTCACCTTGTCCCCTGCCTCGCATTGGCCGGCGGCCCCGTCACCC TGACCCTGATCACCCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCC GGTCATTCCAGTCACCTTGTCCCCTGCCTCGCATTGGCCGGCGGCCCCGT CACCCTGATCCTGGTCACCCCCATCAGCTGGGTCACCCCGTTACCCCCAT GCCCCGGTCTTTCCGGTCACCTTGTCCCCTGCCTCGTATTGGCCGGCGGC CCCGTCACCCTGACCCTGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03540.hp1 HG02615.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0244 a0001c0001t0002g0245	2	356	0.0056	-418	c.148 others(17): Show c.1482+582_1483-304del	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11			chr19	TogoVar
LOC128462377_chr16_89312046_89423292	89400336	CGGTCATC others(411): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCT TCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGG GGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATC TGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGG CTTCCCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02809.hp2 others(1): Show HG02109.hp1 HG02572.hp1 HG02809.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0009 a0001c0001t0000g0011 a0001c0001t0000g0012 others(1): Show a0001c0001t0000g0009 a0001c0001t0000g0011 a0001c0001t0000g0012 a0001c0001t0000g0048	4	366	0.0109	-418	c.9+1 others(15): Show c.9+17530_9+17947del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
MLPH_chr2_237482251_237560322	237544509	GACAGTGG others(411): Show GACAGTGGTGAGTGGGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGT GTTGGGGGGGACATTGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGT GTGTGGTGGTGGTCAGTGGTGATTGGGCACTGTAGTGAGTGGGGGGACAG TGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGAC AGTGGTGAGTGGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCAC GGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGG GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGG GGGACAGTGGTGAGTGGGC	G G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19081.hp1 NA19003.hp2 NA19081.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0030 a0007c0007t0002g0034 a0007c0007t0002g0030 a0007c0007t0002g0034	2	286	0.0070	-418	c.153 others(19): Show c.1539+1856_1540-1674del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MVB12B_chr9_126321829_126512040	126484528	TTCCACTG others(411): Show TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACC TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGC TTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCT TCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAGGTC AGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCT TCATGAGGTCAGGGTACCG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp2 HG01123.hp1 others(48): Show HG00597.hp1 HG00642.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01255.hp2 HG01884.hp1 HG01928.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02135.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03579.hp2 HG03669.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18946.hp2 NA18955.hp1 NA18977.hp1 NA18992.hp2 NA18999.hp1 NA19005.hp2 NA19066.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0023 a0001c0001t0026 a0001c0001t0038 a0001c0002t0001 a0001c0002t0011 a0001c0002t0023 a0001c0002t0037 a0001c0002t0039 a0001c0003t0044 a0001c0006t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(48): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0073 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0241 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0008g0085 a0001c0001t0008g0086 a0001c0001t0008g0271 a0001c0001t0008g0272 a0001c0001t0011g0133 a0001c0001t0023g0135 a0001c0001t0026g0281 a0001c0001t0038g0083 a0001c0002t0001g0207 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0011g0126 a0001c0002t0011g0127 a0001c0002t0011g0129 a0001c0002t0023g0088 a0001c0002t0037g0139 a0001c0002t0039g0172 a0001c0003t0044g0164 a0001c0006t0001g0090	51	318	0.1604	-418	c.873 others(16): Show c.873+973_873+1390del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241806994	CCCCCTCA others(411): Show CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAG GGACCCGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	319	0.0031	-418	c.-22 others(11): Show c.-2283_-1866del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2198		chr2	TogoVar
PKP3_chr11_389209_409908	400996	ACCCCGCT others(411): Show ACCCCGCTCACCCCGGACCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACCCCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGC TCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CACCTGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGG CCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCA CACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	216	0.0046	-418	c.173 others(17): Show c.1737+302_1737+719del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
RIMBP2_chr12_130391133_130721299	130539610	CGATGAGG others(411): Show CGATGAGGTGGCCAGGTGTAGGATATGGCAAATGCAGTCGATGAGGTGGC CAGGTGTAGGATATGGCAAATGCAGTCGATGAGGTGGCCAGGTGTAGGCT ATGGCAAATGCAGTCGATGAGGTGGCCAGGTGTAGGATATGGCAAATGCA GTCCATGAAGTGGCCAGGTGTAGGATATGGCAAATGCAGTCCATGAGGTG GCCAGGTGTAGGATATGGCAAATGCAGTCGATGAGGTGGCCAGGTGTAGG ATATGGCAAATGCAGTAGATGAGGTGGCGAGGTGTAGGCTATGGCAAATG CAGTAGATGAGGTGGCCAGGTGTAGGATATGGCAAATGCAGTAGATGAGG TGGCCAGGTGTAGGATATGGCAAATGCAGTCGATGAGGTGGCCAGGTGTA GGATATGGCAAATGCAGTA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01070.hp2 HG01192.hp1 others(19): Show HG00544.hp1 HG01070.hp2 HG01192.hp1 HG01346.hp1 HG01346.hp2 HG01981.hp2 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02698.hp1 HG02886.hp1 HG03130.hp2 HG03491.hp1 HG03492.hp2 HG03834.hp1 NA18979.hp1 NA18979.hp2 NA18986.hp2 NA19007.hp2 NA19030.hp1 NA19084.hp2 NA20752.hp1	a0001 a0011 a0017 a0001 a0011 a0017	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0019 a0001c0020 a0001c0044 a0011c0050 a0017c0037	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0001c0019t0001 a0001c0020t0001 a0001c0044t0001 a0011c0050t0001 a0017c0037t0001	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0119 others(19): Show a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0119 a0001c0001t0001g0155 a0001c0001t0002g0037 a0001c0001t0002g0064 a0001c0002t0001g0036 a0001c0002t0002g0044 a0001c0004t0002g0003 a0001c0006t0001g0009 a0001c0006t0001g0075 a0001c0006t0001g0076 a0001c0007t0001g0149 a0001c0007t0001g0160 a0001c0008t0001g0143 a0001c0008t0001g0153 a0001c0011t0001g0109 a0001c0019t0001g0023 a0001c0020t0001g0118 a0001c0044t0001g0067 a0011c0050t0001g0104 a0017c0037t0001g0002	22	180	0.1222	-418	c.-21 others(21): Show c.-216-22111_-216-21694del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
SIGIRR_chr11_400716_419999	400996	ACCCCGCT others(411): Show ACCCCGCTCACCCCGGACCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACCCCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGC TCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CACCTGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGG CCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCA CACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	242	0.0041	-418	c.44 others(11): Show c.4482_*4899del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4719		chr11	TogoVar
ZBTB42_chr14_104796101_104809712	104807958	GAGCACCC others(411): Show GAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCC CCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCA GGATAACAAGGCCGTACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0000 a0002c0002t0016g0000	1	99	0.0101	-418	c.54 others(11): Show c.5493_*5910del	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3247		chr14	TogoVar
ZBTB42_chr14_104796101_104809712	104808046	ACTCCCCA others(411): Show ACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCC CCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCA GGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGC CGTACAGAGCACCCCCAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19012.hp1 NA19088.hp2 NA19004.hp2 NA19012.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0000 a0002c0002t0004g0000	3	99	0.0303	-418	c.55 others(11): Show c.5581_*5998del	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3335		chr14	TogoVar
ADORA2B_chr17_15940130_15980746	15979585	CCTCCCGG others(410): Show CCTCCCGGACGAGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCTGGGCGGAGGACTGACCCCCCCCACCTCC CTCCCGAATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGGGCTGAACCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCG GGCAGAGGTGCCCCTCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02080.hp2 HG04184.hp1 others(2): Show HG02015.hp2 HG02080.hp2 HG04184.hp1 NA18985.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0128 a0002c0002t0003g0130 a0002c0002t0003g0195 others(2): Show a0002c0002t0003g0128 a0002c0002t0003g0130 a0002c0002t0003g0195 a0002c0002t0003g0211 a0002c0002t0003g0290	5	346	0.0145	-417	c.42 others(11): Show c.4244_*4660del	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		3840		chr17	TogoVar
CDC34_chr19_526760_547087	540049	CGTTTAGA others(410): Show CGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCC GGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGT GGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCC CGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAAT CCGGAGGCCGGGGTGGCCAGGCCCCCCGGTTTAGAATCCGGAGGCCGGGG TGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCC CCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAA TCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCGG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02738.hp2 HG03654.hp2 others(2): Show HG00642.hp1 HG02738.hp2 HG03654.hp2 HG04184.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0112 a0001c0001t0001g0116 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0174	5	328	0.0152	-417	c.498 others(16): Show c.498-1253_498-837del	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDH4_chr20_61247261_61945617	61945200	ATGGGAGC others(410): Show ATGGGAGCCCCTTCTCACTGACAATGAGGAGCATTCAGAGTGTCTACACC GTGGCCACGCCTTCTCACCGATGCTGAGGAGCACCGAGACTGTCTGCACT GTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCATCTGCACC GTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACTGTCTGCACC GTGGCCGCCCCTTCTCACTGACGATGAGGAGCACTGCGACTGTCTGCACC GTGGCCGCCCTTTCTGACTGATGATAAGGAACATTGCGACTGTCTGCACC GTGGCTGCCCCTTCTCACCAACGCTGAGGAGCACTGCAACCATCTGCACC GTGGCCGCCCCTTCTCACCGATGATGAGGAACATTGAGACTGTCTGCCCC GTGGCTGCCCCTTCTCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01433.hp1 HG03540.hp1 HG01358.hp2 HG01433.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0005 a0001c0011t0008 a0001c0003t0005 a0001c0011t0008	a0001c0003t0005g0054 a0001c0011t0008g0003 a0001c0011t0008g0101 a0001c0003t0005g0054 a0001c0011t0008g0003 a0001c0011t0008g0101	3	106	0.0283	-417	c.82 others(11): Show c.8258_*8674del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4584		chr20	TogoVar
ERC1_chr12_986223_1500931	1090402	GAAAGTGC others(410): Show GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTAT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCC CATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATA TGCCTGTGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTG AGATTACAGGCAATATGC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0018	1	162	0.0062	-417	c.108 others(19): Show c.1086+6823_1086+7239del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18			chr12	TogoVar
FOXN3_chr14_89151177_89422233	89360801	TCCAGCAC others(410): Show TCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCAC CTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCA CCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCACC ACCACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTC CACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCT CCAGCACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACC ACCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCAC CACCTCCAGCACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCA CCACCACCACCACCTCCA	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	230	0.0044	-417	c.544 others(18): Show c.544-10410_544-9994del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FRYL_chr4_48492357_48785279	48659376	AGAAGAAG others(410): Show AGAAGAAGGAGAAGGAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGAGGAAGAGGAAGAGGAAGAGGAAGAGGGAGAAGAGGAAGAGGGAGAA GAGGAAGAGGGAGAAGAAGAAGAGGGAGAAGAAGAAGAGGGAGAAGAGGG AGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAG GAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAA GAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGG AGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAG GAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAA GAGGGAGAAGGAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp2 others(70): Show HG00544.hp1 HG00597.hp1 HG00609.hp2 HG01070.hp2 HG01071.hp2 HG01358.hp1 HG01516.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02071.hp1 HG02155.hp1 HG02257.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03834.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp2 NA18964.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19065.hp1 NA19070.hp1 NA19076.hp1 NA19079.hp2 NA19088.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0009 a0013 a0014 a0015 a0018	a0001c0002 a0001c0003 a0001c0006 others(7): Show a0001c0002 a0001c0003 a0001c0006 a0003c0005 a0006c0008 a0009c0021 a0013c0018 a0014c0017 a0015c0020 a0018c0016	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(11): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0015 a0001c0003t0001 a0001c0006t0001 a0003c0005t0001 a0006c0008t0001 a0009c0021t0001 a0013c0018t0001 a0014c0017t0001 a0015c0020t0001 a0018c0016t0001	a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0013 others(70): Show a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0003g0045 a0001c0002t0003g0090 a0001c0002t0005g0001 a0001c0002t0006g0112 a0001c0002t0015g0282 a0001c0003t0001g0099 a0001c0006t0001g0005 a0001c0006t0001g0008 a0001c0006t0001g0009 a0003c0005t0001g0007 a0003c0005t0001g0079 a0003c0005t0001g0080 a0003c0005t0001g0082 a0003c0005t0001g0083 a0003c0005t0001g0086 a0003c0005t0001g0092 a0006c0008t0001g0038 a0009c0021t0001g0096 a0013c0018t0001g0068 a0014c0017t0001g0047 a0015c0020t0001g0029 a0018c0016t0001g0036	73	282	0.2589	-417	c.-81 others(19): Show c.-81+24880_-80-24887del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241806995	CCCCTCAG others(410): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGG GACCCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG03041.hp2 NA19004.hp2 HG00642.hp2 HG03041.hp2 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0178 a0002c0002t0001g0104 a0002c0002t0002g0019 a0001c0001t0002g0178 a0002c0002t0001g0104 a0002c0002t0002g0019	3	314	0.0096	-417	c.28 others(11): Show c.2830_*3246del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2709		chr2	TogoVar
GZMM_chr19_539053_554922	540049	CGTTTAGA others(410): Show CGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCC GGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGT GGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCC CGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAAT CCGGAGGCCGGGGTGGCCAGGCCCCCCGGTTTAGAATCCGGAGGCCGGGG TGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCC CCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAA TCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02738.hp2 HG03654.hp1 others(3): Show HG00642.hp1 HG02738.hp2 HG03654.hp1 HG03831.hp1 HG04184.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0111 a0001c0001t0001g0113 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116	6	398	0.0151	-417	c.-40 others(11): Show c.-4022_-3606del	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		4003		chr19	TogoVar
NCAPG2_chr7_158626169_158709804	158667322	TCCCTCCG others(410): Show TCCCTCCGCTACTGTGTCCCTCCGCTCCTTAGCCACTACCGGATCCCTCC GCCCCCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTG GGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACC CACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC TCCTTACCTACCCTGTGGCCCTCCACCCGCTTACCCACTACTGGGTCCCT CCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCT GTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACC CACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC TCCTTACCTACCCTGTGG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	378	0.0027	-417	c.148 others(19): Show c.1480-2989_1480-2573del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEU4_chr2_241804193_241822413	241806995	CCCCTCAG others(410): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGG GACCCGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG03041.hp2 NA19000.hp2 others(1): Show HG02004.hp1 HG03041.hp2 NA19000.hp2 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0004t0001g0016 a0001c0005t0001g0152 others(1): Show a0001c0001t0001g0001 a0001c0004t0001g0016 a0001c0005t0001g0152 a0002c0003t0002g0144	4	319	0.0125	-417	c.-22 others(11): Show c.-2282_-1866del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2197		chr2	TogoVar
PCBP3_chr21_45638725_45947450	45909709	CCGGCCAC others(410): Show CCGGCCACCCACTGCCCAGATACAGACCTGGCCCACCCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTG CCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACC CACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGC CCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGA CCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAA ATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTG CCCAGATACGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCCAC CCACTGCCCAGATACGGA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	292	0.0034	-417	c.471 others(15): Show c.471+225_471+641del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PPP1R12B_chr1_202343699_202597702	202391727	TAAATGAA others(410): Show TAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGT GTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATT ATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGA TAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGT GTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATT ATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGA TAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGT GTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATT ATCTTCAGGTGTACTGAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0091 a0001c0001t0033g0091	1	254	0.0039	-417	c.292 others(19): Show c.292-25059_292-24643del	PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23			chr1	TogoVar
PRKCA_chr17_66297613_66815743	66799128	TGGTGGTG others(410): Show TGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGT GATGGTGGTGGTAGTGAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	178	0.0056	-417	c.185 others(19): Show c.1855-4728_1855-4312del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar

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Search Results (Total: 10000 hits)