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
ERICH1_chr8_659200_736224	676089	TGAGGACA others(380): Show TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAG GCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGAC AGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGC GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCC TCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCG GCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03098.hp2 HG03130.hp1 others(1): Show HG01891.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0242 a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0242	4	378	0.0106	-387	c.305 others(17): Show c.305-2429_305-2043del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714182	CGCATCTC others(380): Show CGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCT CTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTG GGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTG CTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTGCTGCACC CAGGCGGCCTCTTCCCGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGG CCTCTTCCCGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTC CGGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCCGCATC TCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(34): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00639.hp1 HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG02602.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG03017.hp1 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04204.hp1 NA18956.hp2 NA18977.hp2 NA18985.hp1 NA18985.hp2 NA18991.hp2 NA19002.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0012	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0004c0006 a0008c0016 a0012c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0002 a0004c0006t0002 a0008c0016t0002 a0012c0017t0002	a0001c0001t0001g0002 a0001c0001t0002g0258 a0001c0001t0002g0331 others(33): Show a0001c0001t0001g0002 a0001c0001t0002g0258 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0002g0298 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0335 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0344 a0001c0002t0002g0345 a0001c0002t0002g0346 a0001c0002t0002g0348 a0001c0002t0002g0350 a0001c0002t0005g0243 a0001c0003t0002g0308 a0004c0006t0002g0250 a0004c0006t0002g0251 a0004c0006t0002g0325 a0008c0016t0002g0326 a0012c0017t0002g0366	37	378	0.0979	-387	c.169 others(17): Show c.169+1292_169+1678del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
FRYL_chr4_48492357_48785279	48659514	GGGAGAAG others(380): Show GGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGAAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19030.hp1 HG02559.hp2 NA19030.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0208 a0002c0004t0001g0242 a0002c0004t0001g0208 a0002c0004t0001g0242	2	282	0.0071	-387	c.-81 others(19): Show c.-81+24772_-80-25025del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
P2RX5_chr17_3668227_3701155	3685946	ACACAGCG others(380): Show ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCC TCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	362	0.0028	-387	c.981 others(17): Show c.981+1679_981+2065del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PARVB_chr22_44019302_44177939	44114366	AACTAAGG others(380): Show AACTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGGCCCTGCACC AACACAGATACATTGTTACTAAGTAAGGCCCTGCACCAACACAGATACAT TGTTACTAACTAAGGCCCTGCACCAGCACAGATATATTGTTACTAAGGCC CTGTACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACA GATATGTTGTTACTAAGGCCCTGCACCAACACAGATACATTGTTACTAAG GCCCTGCACCAACACAGATACATTGTTACTAAGTAAGGCCCTGCACCAAC ACAGATACGTTGTTACTAACTAAGGCCCTGCACCAACACAGATACGTTGT TACTAAGTAAGGCCCTGCACCAACACAGATACATTGTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(75): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01167.hp2 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03130.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19010.hp1 NA19043.hp2 NA19065.hp2 NA19074.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19240.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0002c0003 a0003c0034 a0005c0014 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0015 a0001c0002t0017 a0001c0002t0021 a0001c0002t0040 a0001c0002t0044 a0001c0004t0001 a0001c0004t0005 a0001c0015t0029 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0014 a0002c0003t0017 a0002c0003t0032 a0002c0003t0079 a0003c0034t0036 a0005c0014t0083 a0011c0010t0031	a0001c0001t0001g0005 a0001c0001t0001g0096 a0001c0001t0001g0248 others(75): Show a0001c0001t0001g0005 a0001c0001t0001g0096 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0273 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0002g0216 a0001c0001t0002g0228 a0001c0001t0002g0256 a0001c0001t0002g0272 a0001c0001t0002g0290 a0001c0001t0002g0310 a0001c0001t0003g0144 a0001c0001t0004g0236 a0001c0001t0004g0241 a0001c0001t0004g0269 a0001c0001t0004g0293 a0001c0001t0004g0300 a0001c0001t0005g0058 a0001c0001t0005g0227 a0001c0001t0005g0257 a0001c0001t0005g0268 a0001c0001t0005g0306 a0001c0001t0006g0187 a0001c0001t0007g0221 a0001c0001t0007g0303 a0001c0001t0008g0013 a0001c0001t0008g0231 a0001c0001t0008g0259 a0001c0001t0011g0288 a0001c0001t0011g0296 a0001c0001t0012g0037 a0001c0001t0014g0109 a0001c0001t0016g0185 a0001c0001t0016g0188 a0001c0001t0017g0081 a0001c0001t0023g0205 a0001c0001t0024g0181 a0001c0001t0026g0313 a0001c0001t0074g0132 a0001c0001t0076g0261 a0001c0001t0077g0307 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0055 a0001c0002t0001g0123 a0001c0002t0001g0224 a0001c0002t0001g0251 a0001c0002t0006g0101 a0001c0002t0006g0168 a0001c0002t0007g0002 a0001c0002t0009g0191 a0001c0002t0015g0327 a0001c0002t0017g0278 a0001c0002t0021g0092 a0001c0002t0040g0189 a0001c0002t0044g0018 a0001c0004t0001g0097 a0001c0004t0001g0180 a0001c0004t0001g0289 a0001c0004t0005g0098 a0001c0015t0029g0139 a0002c0003t0001g0047 a0002c0003t0001g0240 a0002c0003t0003g0038 a0002c0003t0006g0112 a0002c0003t0012g0040 a0002c0003t0012g0041 a0002c0003t0014g0046 a0002c0003t0017g0242 a0002c0003t0032g0152 a0002c0003t0079g0044 a0003c0034t0036g0325 a0005c0014t0083g0197 a0011c0010t0031g0179	78	332	0.2349	-387	c.274 others(17): Show c.274-4632_274-4246del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCZ_chr1_2045411_2190395	2123805	GGTTAGGG others(380): Show GGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGG TGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACG GCGGCGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGT CACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCGTGGTGGTTAGGG TCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTT AGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGAC GGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGG CGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCT	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18942.hp1 NA18948.hp2 others(3): Show HG02155.hp2 NA18942.hp1 NA18948.hp2 NA18971.hp2 NA19011.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0008 a0001c0004t0001g0009 a0001c0004t0001g0010 others(3): Show a0001c0004t0001g0008 a0001c0004t0001g0009 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0056 a0001c0004t0002g0040	6	286	0.0210	-387	c.335 others(19): Show c.335-11454_335-11068del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280816	GAGAGAGG others(380): Show GAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAG GACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCC GAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGA CAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG CGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGC GATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTC AGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA GGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	330	0.0030	-387	c.970 others(19): Show c.970-22134_970-21748del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281451	CGGAGATC others(380): Show CGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGAT CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATA GAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACA GGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0294 a0001c0001t0045g0294	1	330	0.0030	-387	c.970 others(19): Show c.970-21497_970-21111del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
STK38L_chr12_27239286_27330959	27240673	ATGTATAG others(380): Show ATGTATAGTTGTATAGTTATATATATTACATATATGACTATGTATAGTTG TATAGTTATATATATTACATATATGACTATGTATAGTTGTATAGTTATAT ATATTACATATATGACTATGTATAGTTGTATAGTTATATATATTACATAT ATCACTATGTATAGTTGTATAGTTATATATATTACATATATCACTATGTA TAGTTGTATAGTTATATATATTACATATATGACTATGTATAGTTATATAT ATTACATATATGACTATGTATAGTTATATATATTACATATATGACTATGT ATAGTTATATATATTACATATATGACTGTATAGTTATATATATTACATAT ATGACTATGTATAGTTATATATATTACATATATGACTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	374	0.0027	-387	c.-36 others(11): Show c.-3670_-3284del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3612		chr12	TogoVar
TEAD4_chr12_2954397_3045676	3033847	GGGATATG others(380): Show GGGATATGAGGGTGGACAGGAAATGTCAGGAAGGAGTATAGCTGCAGGAG AAGGGGTGAGGCTGTAATTAGAAGGATCCAGGCACTGAGGACGAGTCGAG GTGCTCTGGGGCGGTTCGTCCGTGTCGCCGGCTGGTGTGTTCCGGGTTTA TGCAGTGTGAACATGAGTTCTGGGGCTGATTGTGGGATCTCTCTTTCTCC CCCTGACCCATTGCTCAACCCTAGCACTTGCATTCTATTTGTTCTCCCGA TTATAAATTCCCTGAGAGCAGAAACAATGTCTCAACCTCTCTGGGCCCCC CTGCCTCTAGCACTGCTGGCCTGGGCTGGACAAATGGGCACCTGAGCGAT GGGAAGAGCCAGGGAGTGGGAGCTGATGACAGAAGAGT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02055.hp2 HG03516.hp2 others(2): Show HG01358.hp1 HG02055.hp2 HG03516.hp2 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0233 a0001c0001t0001g0251 others(2): Show a0001c0001t0001g0180 a0001c0001t0001g0233 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254	5	276	0.0181	-387	c.898 others(17): Show c.898-4119_898-3733del	TEAD4	ENSG00000197905.10	transcript	ENST00000359864.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
TEX29_chr13_111315642_111349248	111340175	AATCATAA others(380): Show AATCATAACCCATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	416	0.0024	-387	c.239 others(15): Show c.239+254_239+640del	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111340186	ATGTTTAG others(380): Show ATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCATGTTTA GTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCA CCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGC TTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACAT CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACC CGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG01243.hp1 others(9): Show HG01109.hp2 HG01192.hp1 HG01243.hp1 HG02055.hp1 HG02572.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0002t0001g0008 others(3): Show a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0059 a0001c0002t0002g0164	12	416	0.0289	-387	c.239 others(15): Show c.239+297_239+683del	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
ADARB2_chr10_1172313_1742525	1239892	CCCTCCCG others(379): Show CCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTG	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp2 NA18989.hp1 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0035 a0002c0002t0062 a0001c0001t0035 a0002c0002t0062	a0001c0001t0035g0079 a0002c0002t0062g0093 a0001c0001t0035g0079 a0002c0002t0062g0093	2	106	0.0189	-386	c.136 others(19): Show c.1361+1853_1361+2238del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115952105	TTCCTGGG others(379): Show TTCCTGGGAACCCTTTGAGAAAAAACAATTTTCCTACTGTTTCAAAATAT TATGACCATGTTTATAGTCCTCTATACTGCATTAAGACAGTTAATAACAT GCTGGTTTTTGGTGCAAATTACTTTGTGTACATATTCTTGATGGAGTCTT GATAATTGCCCTTATAATGTAGGCACTAAGGGACTATTTGCGGTATTAGC AAAGATTGTAGCAGCATCAAGTTTATTATCTTGGTGGGATGCAAGACAAA GAATAGTGATTAATAATCTCTACAAAGTTTGAAATCTACTAAGACTGTTG GTAAAAAGCGTAATTCAACTCGTAAAACATGTCACTTCATGCCACTAAAA ATTAAATGCAAATTCCCCAAATTGGGTCTTAATCACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG00738.hp2 others(40): Show HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01515.hp1 HG01515.hp2 HG01943.hp1 HG01952.hp2 HG02015.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02258.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18994.hp2 NA19003.hp1 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0013 a0001c0015 a0002c0004 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0020 a0001c0001t0024 a0001c0001t0046 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0003t0002 a0001c0003t0004 a0001c0003t0015 a0001c0003t0031 a0001c0003t0037 a0001c0005t0007 a0001c0005t0018 a0001c0009t0005 a0001c0013t0009 a0001c0015t0034 a0002c0004t0006 a0002c0014t0009	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(40): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0120 a0001c0001t0002g0017 a0001c0001t0002g0080 a0001c0001t0002g0114 a0001c0001t0002g0123 a0001c0001t0006g0109 a0001c0001t0007g0027 a0001c0001t0009g0122 a0001c0001t0011g0112 a0001c0001t0015g0064 a0001c0001t0020g0115 a0001c0001t0024g0024 a0001c0001t0046g0099 a0001c0002t0001g0041 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0004g0058 a0001c0002t0005g0037 a0001c0002t0005g0043 a0001c0002t0005g0044 a0001c0002t0005g0046 a0001c0002t0005g0053 a0001c0002t0006g0086 a0001c0003t0002g0081 a0001c0003t0004g0042 a0001c0003t0015g0108 a0001c0003t0031g0016 a0001c0003t0037g0121 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0018g0003 a0001c0009t0005g0059 a0001c0013t0009g0078 a0001c0015t0034g0110 a0002c0004t0006g0084 a0002c0014t0009g0072	43	128	0.3359	-386	c.73 others(11): Show c.7327_*7712del	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding		3107		chr10	TogoVar
CHMP3_chr2_86498430_86568443	86545377	GGACGGGG others(379): Show GGACGGGGTGGCCGGGCAGAGGCGCTCCCCACTTCCCAGACGGGGTGGCC GGGCAGAGGCGCTCCTCACTCCCCACTTCCTGGACGGGGCGGCCGGGCAG AGGCGCTCCTCACATCCCAGATGGGGCGACTGCCGGGCAGAGGCGCTCCT CACTTCCCAGACGGGGCGACTGCCGGGCAGAGGCGCTCCTCACTTCCCAG ACGGGGCGACTGCCGGGCAGAGGCGCTCCTCACTTCTCAGATGGGGTGGC CGGGCAGAGGCGCTCCTCAGTTCCCAGACGGGGTGGCCGGGCAGAGGCAC TCCTCAGTTCCCAGATAGGGCGGCCAGGCAGAGGTGCTCCTCACATCCCA GATGGGGCGGCTGGGCAGAGGCGCTCCTCACTTCTCA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	336	0.0030	-386	c.46- others(15): Show c.46-3451_46-3066del	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5			chr2	TogoVar
CNN2_chr19_1021608_1044065	1033655	AGTGTCTG others(379): Show AGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAG ACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGG TGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTG GTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCG TGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTG TCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGG GGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGAC ACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02622.hp2 others(6): Show HG01884.hp2 HG02109.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02976.hp2 HG03098.hp1 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0008t0019	a0001c0001t0006g0009 a0001c0001t0006g0084 a0001c0001t0006g0087 others(4): Show a0001c0001t0006g0009 a0001c0001t0006g0084 a0001c0001t0006g0087 a0001c0001t0006g0258 a0001c0001t0009g0088 a0001c0001t0010g0085 a0001c0008t0019g0089	9	390	0.0231	-386	c.390 others(17): Show c.390+1029_390+1414del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOCK5_chr8_25179689_25420711	25216393	AATATGTG others(379): Show AATATGTGCATACAATATGTATATATGTATACAATATGTGCATACAATAT GTATATATGTATACAATATGTGCATACAATATGTATATATGTATACAATA TGTGCATACAATATGTATATATGTATACAATATGTGCATACAATATGTAT ATATGTATACAATATGTGCATACAATATGTATAGATGTATACAATATGTG CATACAATATGTATAGATGTATACAATATGTGCATACAATATGTATAGAT GTATACAATATGTGTATACAATATGTATAGATGTATACAATATGTGTATA CAATATGTATAGATGTATACAATATGTGTATACAATATGTATAGATGTAT ACAATATGTGTATACAATATGTATAGATGTATACAAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG02486.hp2 others(5): Show HG00642.hp1 HG01070.hp1 HG02486.hp2 HG02809.hp2 HG03491.hp1 HG03834.hp2 HG03927.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0002c0007	a0001c0002t0008 a0001c0002t0018 a0001c0004t0003 others(5): Show a0001c0002t0008 a0001c0002t0018 a0001c0004t0003 a0001c0004t0051 a0001c0004t0052 a0001c0005t0085 a0002c0007t0002 a0002c0007t0035	a0001c0002t0008g0028 a0001c0002t0018g0042 a0001c0004t0003g0012 others(5): Show a0001c0002t0008g0028 a0001c0002t0018g0042 a0001c0004t0003g0012 a0001c0004t0051g0174 a0001c0004t0052g0172 a0001c0005t0085g0004 a0002c0007t0002g0005 a0002c0007t0035g0037	8	210	0.0381	-386	c.44- others(17): Show c.44-27278_44-26893del	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137566514	TCTGTCTG others(379): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	340	0.0029	-386	c.641 others(17): Show c.641-1746_641-1361del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567370	ACTCTGTC others(379): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	340	0.0029	-386	c.641 others(17): Show c.641-2602_641-2217del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567638	TGTCTGTG others(379): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCC GGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	340	0.0029	-386	c.641 others(17): Show c.641-2870_641-2485del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERICH1_chr8_659200_736224	675212	TGAGGACA others(379): Show TGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGAC AGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCC TCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCG GCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	378	0.0027	-386	c.305 others(17): Show c.305-1551_305-1166del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241807026	CTCCCCCC others(379): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTC CCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG03209.hp2 HG01099.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0064 a0002c0002t0002g0021 a0001c0001t0001g0064 a0002c0002t0002g0021	2	314	0.0064	-386	c.28 others(11): Show c.2861_*3246del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2740		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807062	TCCCTCCC others(379): Show TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	314	0.0032	-386	c.28 others(11): Show c.2897_*3282del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2776		chr2	TogoVar
GPHN_chr14_66503147_67186803	67086589	CTGCAGTG others(379): Show CTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGA GACTCTGTCTCAAAAAAAAAAAAAAAAAAGTTCTAAAATCTAGTTTTTCC ATCTTACTTTAGCCACCTATGAAATATATTGCTGTGGGTAAGTACTTACT GTATTTAAACGTCTCTTCCGGCCAGGCGCGTGGCTCACGCCTGTAATCTC AGCATTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGATAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAA TTAGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAGCT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	234	0.0043	-386	c.114 others(19): Show c.1145-2377_1145-1992del	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GRTP1_chr13_113319163_113369130	113347303	TGGGAGGA others(379): Show TGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCA AGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCGGGAGGACC TCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACC CAGGAGGATCTCTGTGGCCGAGAGCAGACCTGGGAGGACCTCTGTGGCCG AGAGCGGACCCAGGAGCACCTCTGTGGCTGAGCGGATCCGGGAGGACCTC TGTGGCAGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAACAGACCCG GGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAG CAGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCC	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18966.hp1 NA18982.hp2 others(4): Show NA18963.hp2 NA18966.hp1 NA18982.hp2 NA18995.hp1 NA19070.hp2 NA19085.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0143 a0001c0001t0001g0192 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0143 a0001c0001t0001g0192 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0224	7	288	0.0243	-386	c.466 others(17): Show c.466-2730_466-2345del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
LRMDA_chr10_75426624_76565168	75479802	CGAGTGTA others(379): Show CGAGTGTATTCAAGGGACACAAACATGTACTGGGTAGTCACTGGGAAACA GCAGTGAAAAAGCAGGCAGCATCTCTGTCCTCATAAAGCTTGTATTTTAG TGAGGAGAATTGGCCAAGTAAGGTGGCCTTGGGAGCTGAAGAGTGTTTCA GGCAGAGGGAACACAACAGACGATGTCCAGATCTCAGGCAGAACGAGTGT ATTCAAGGGACACAAACATGTACTGGGTAGTCACTGGGAAACAGCAGTGA AAAAGCAGGCAGCATCTCTGTCCTCATAAAGCTTGTATTTTAGTGAGGAG AGTTGGCCAAGTAAGGTGGCCTTGGGAGCTGAAGAGTGTTTCAGGCAGAG GGAACACAACAGACGATGTCCAGATCTCAGGCAGAAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03195.hp1 NA21309.hp1 HG01081.hp1 HG03195.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0002t0003 a0001c0001t0001 a0001c0001t0013 a0001c0002t0003	a0001c0001t0001g0016 a0001c0001t0013g0022 a0001c0002t0003g0030 a0001c0001t0001g0016 a0001c0001t0013g0022 a0001c0002t0003g0030	3	46	0.0652	-386	c.131 others(19): Show c.131+41416_131+41801del	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
NFATC1_chr18_79390930_79534323	79521654	GTGTGTGT others(379): Show GTGTGTGTGGGGGGGGGGGCGTCTGCTGATGTGTGTGTGTGTGTGTGGGG AGCATCCACTGATGTGTGTGTCTGTGTGTGTGTGGGGTGCATCCACAGAT GTGTGTGTCTGTGTGTGTGTGGGGAGCATCCACTGATGTGTATGTGTGTG GGGGGGGGCATCCCCTGATGTGTGTGTCTGTGTGTGTGGGGGGGGGGGCG TCTGCTGATGTGTGTGTCTGTGTGTGTGGGGGGGGCATCCACTGATGTGT ATGTCTGTGTGTGTGGGGGCGTCTGCTGATGTGTGTGTTTTGTGTGTGGG AGGTTGTCTGCTGTGTGTGGGGAGGGGGCATCTGCTGATATGTGTGTCTG TGCATGTGTGGGGGGGCGTCTGCTGATGTGTGTGTTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19240.hp1 HG02451.hp1 NA19240.hp1	a0001 a0001	a0001c0021 a0001c0054 a0001c0021 a0001c0054	a0001c0021t0047 a0001c0054t0041 a0001c0021t0047 a0001c0054t0041	a0001c0021t0047g0116 a0001c0054t0041g0007 a0001c0021t0047g0116 a0001c0054t0041g0007	2	322	0.0062	-386	c.278 others(19): Show c.2783-5862_2783-5477del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC12A6_chr15_34224784_34342781	34269976	AGCTAGAA others(379): Show AGCTAGAATACCTCTATAAAAAGAGACATTTCCTTTAATCTACTATTTGA TTACCAAGTGGTTCAGTTAAAAACAGGACGAATAATTCTTTCCCTTTACT GACCAGTTCTCAGAATAATTGGTTCACTAAATACTCCAATGGTGACCAGT TAGTTGTGGGTTTTGTTTTGTTTTAGAGACAGGGTATCACTCTGTCGCGG AGTACAGTGGCACCATCACAGCTTACTGTAGCCTCCAGAGTAGCTAGGAC TACAGGTGTGTGCCACCATGCCAGGCTAATTATTTTTTGCTTTTTTGTAG AGATGGGTTCTTGCAATGTTGCCCAGTCTGATCTTGAACCCCTGGCCTCA AGTAATCCTCCTACCTCCCTCCTCAGCCTCCTAAAGT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG02647.hp2 others(3): Show HG02258.hp2 HG02572.hp1 HG02647.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0015 a0001c0005 a0001c0015	a0001c0005t0008 a0001c0015t0053 a0001c0005t0008 a0001c0015t0053	a0001c0005t0008g0008 a0001c0005t0008g0009 a0001c0005t0008g0010 others(3): Show a0001c0005t0008g0008 a0001c0005t0008g0009 a0001c0005t0008g0010 a0001c0005t0008g0053 a0001c0005t0008g0259 a0001c0015t0053g0060	6	274	0.0219	-386	c.316 others(17): Show c.316+4983_316+5368del	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	3/25			chr15	TogoVar
SLC66A2_chr18_79897420_79956653	79921460	GGAACCGA others(379): Show GGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGT CAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGA GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGA GTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAG GTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAAC CGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGA	G G	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	352	0.0028	-386	c.392 others(17): Show c.392-2446_392-2061del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
ZNF774_chr15_90347284_90367847	90363354	TGGCTCAT others(379): Show TGGCTCATGAAGGATAGAACTCAGCTGATAACCTTACCTCAGTTTTTGAA AGCATCATTAGATAATTGACCAGAAAATTTTTTTTAGTTAATCCAGTGCA GTGGTTCTCAAACTGTGAGCCCAGTCCAGTAGCATCAGCATTATCTGGGA ACTTTTTAGAAATGCAGATTCAGGCCGGGTGCAGTGGCTCACACCTGTAA TCCCAGCACTCTAGGAGGCCGAGGCGGGTGGACCACCTGAGGTCAGGAGT TTGAGACCAGCCTGGCCAACATGGCAAAACCCCACCTATACTAAAAATAC AAAAATTATCCAGGTGTGGTGGCATGTGCCTGTAATCCCACCAATTTGGG AGGCTGAGGCAGGAGAATCACTTGAACCCAGGAAATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0082 a0002c0002t0002g0082	1	416	0.0024	-386	c.20 others(11): Show c.2072_*2457del	ZNF774	ENSG00000196391.11	transcript	ENST00000354377.8	protein_coding		508		chr15	TogoVar
ACAP3_chr1_1287391_1312930	1289469	TCCCCCGT others(378): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	295	0.0034	-385	c.37 others(11): Show c.3710_*4094del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2921		chr1	TogoVar
B3GNTL1_chr17_82937149_83056770	83055501	GGAGGTTC others(378): Show GGAGGTTCCCTGCAGGTCCGCACGGACGGTGTTAGACTCGGTGCTGGGTG GGGAGACAGGTTCCCTGCAGGTCCCCACAGACAGTGTTAGACTCGGTGCT GGGTGGGGAGGTTCCCTGCAGGTCCGCACGGACGGTGTTAGACTCGGTGC TGGGTGGGGAGACAGAGGTTCCCTGCAGGTCCCCACAGACAGTGTTAGAC TCGGTGCTGGGTGGGGAGGTTCCCTGCAGGTCCGCACGGACGGTGTTAGA CTCGGTGCTGGGTGGGGAGACAGAGGTTCCCTGCAGGTCCGCACGGACGG TGTTAGACTCAGTGCTGGGTGGGGAGACAGAGGTTCCCTGCAGGTCCGCA CAGATGGTGTTAGACTCGGTGCTGGGTGGGGAGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01261.hp1 others(3): Show HG01167.hp2 HG01169.hp1 HG01261.hp1 HG02818.hp1 HG02922.hp2 HG03130.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0013 a0004c0019 a0001c0003 a0001c0013 a0004c0019	a0001c0003t0014 a0001c0013t0012 a0004c0019t0004 a0001c0003t0014 a0001c0013t0012 a0004c0019t0004	a0001c0003t0014g0194 a0001c0013t0012g0001 a0001c0013t0012g0013 others(2): Show a0001c0003t0014g0194 a0001c0013t0012g0001 a0001c0013t0012g0013 a0001c0013t0012g0014 a0004c0019t0004g0193	6	266	0.0226	-385	c.-41 others(11): Show c.-4135_-3751del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		3732		chr17	TogoVar
C19orf12_chr19_29693937_29720261	29719402	AAATATAT others(378): Show AAATATATATATAAATTATATATATATATAATATATATATTTATATATAT AATATACATATTTATATATATATTATATATATTTATATATATATTATATT TATATATATTTATATATATTATATATATATTATATATATAATATATAAAT ATATTTATATAATATAAATATATATATTTATATAATATAAATATATATAT TTATATATATATAAAATATATATAATATATAAGTTTGGACAAAGATATAG AATTATATAATATATAAGTTTGGACAAAGATATAGAATTATATAATATAT AATATAATATATCAGTATATATAATTGTACTATTATATAATTATATATAA TTATATATATTTATATATATTAAATTATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0107 a0001c0002t0015g0107	1	418	0.0024	-385	c.-46 others(11): Show c.-4673_-4289del	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4142		chr19	TogoVar
C2CD4C_chr19_400445_414147	400462	GGGGTTCC others(378): Show GGGGTTCCCAGGCCCACCCTCACTCTTCCAGGGGTCCCCAGGCCCACCCT CACTCTTCCAGGGGTCCCCAGGCCCACCCTCACTCTTCCAGGGGTCCCCA GGCCCACCCTCACTCTTCCAGGGTTCCCAGGCCCACCCTCACTCTTCCAG GGTTCCCAGGCCCACCCTCACTCTTCCAGGGTTCCCAGGCCCACCCTCAC TCTTGCAGGGGTTCCCAGGCCCACCCTCACTCTTGCAGGGGTTCCCAGGC CCACCCTCACTCTTCCAGGGTTCCCAGGCCCACCCTCACTCTTCCAGGGG TCCCCAGGCCCACCCTCACTCTTCCAGGGGTCCCCAGGCCCACCCTCACT CTTCCAGCGGTTCCCAGGCCCACCCTCACTCTTCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0007 a0001c0002t0011g0007	1	322	0.0031	-385	c.62 others(11): Show c.6249_*6633del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4982		chr19	TogoVar
CADM2_chr3_84953989_86079429	85246635	ATAATTCA others(378): Show ATAATTCAGAGTCTGTAAGGAGTTAACCAGATTTCTAGTACATAGATTTC AAAAACACAGTTATAGTGAAACAGGCTAGGCAACTGATCATTTAGAATAA ACTGTGAAGAACATACAAGTGTTCAATTCTTTATTATCAGTGGGTAAAAA TCTCAGGAAAAATAACTTTCTGCCAAATTACTTCCACTTTAAATTGCCTT AGAGTTCTTGAATTTGTTTGCTGTGTATATTTTGTTGGTGTTTGTGTGAG AGATTTCTTATTGTTACAGATTTTCTTTGGAGTTTTATGGATATAGTACT TTATACCTGTAATGATTTTTACTTATATAATTTAACTTACATTTTAATCT CTATATGATATATTGTTGTTTAATCAGATCTGACTT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0145 a0001c0001t0029g0145	1	146	0.0069	-385	c.61+ others(19): Show c.61+286969_61+287353del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP131_chr17_81184596_81227965	81209556	ACTAAGCA others(378): Show ACTAAGCAAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCA GAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAG CGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAG GATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGACCGCTCGG AGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAA GCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAGCG CTCGGAGAAGCGGACGCTAAGCGAGGATCAGACCGCTCCGAGAAGCGGAC GCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01257.hp1 HG01167.hp2 HG01169.hp2 HG01257.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0015 a0001c0001 a0011c0015	a0001c0001t0001 a0011c0015t0006 a0001c0001t0001 a0011c0015t0006	a0001c0001t0001g0145 a0011c0015t0006g0323 a0011c0015t0006g0325 a0001c0001t0001g0145 a0011c0015t0006g0323 a0011c0015t0006g0325	3	384	0.0078	-385	c.178 others(15): Show c.178-919_178-535del	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
DBNDD1_chr16_89999871_90024456	90003450	TTCCCTCC others(378): Show TTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTC TATGACTCCCTCCCCCGGCCCGGGCTACCTTTACATGCACGTGCGGTGGG ACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGG GTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCAC GTGGGGCGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCT TTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGC CACCTTTACGTGCACGTGGGGCGGGACTTCTGTGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG01106.hp2 others(11): Show HG00323.hp2 HG00423.hp2 HG01106.hp2 HG01168.hp2 HG01433.hp1 HG02027.hp2 HG02300.hp1 HG02735.hp1 HG03704.hp1 NA18980.hp2 NA18983.hp1 NA18998.hp2 NA19054.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0063 a0001c0001t0001g0084 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0201 a0001c0001t0002g0268 a0001c0001t0003g0019 a0001c0001t0003g0048	14	412	0.0340	-385	c.25 others(11): Show c.2500_*2884del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1420		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003470	TACCTTTA others(378): Show TACCTTTATATGCACGTGGGGTGGGACTTCTATGACTCCCTCCCCCGGCC CGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCC CGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCC TCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGA CTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG04228.hp2 HG01243.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0142 a0001c0001t0001g0092 a0001c0001t0001g0142	2	412	0.0049	-385	c.24 others(11): Show c.2480_*2864del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1400		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003525	TACCTTTA others(378): Show TACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCC CGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCC TGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGACTCCC TCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGA CTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG02132.hp2 HG02896.hp2 HG02897.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0167 others(1): Show a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0002g0001	4	412	0.0097	-385	c.24 others(11): Show c.2425_*2809del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1345		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003546	TGGGACTT others(378): Show TGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACG TGGGGTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGT GCACGTGGGGCGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCCACCTT TACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCC ACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCC GGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCC GGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGATTCCCT CCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0192 a0001c0001t0013g0192	1	412	0.0024	-385	c.24 others(11): Show c.2404_*2788del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1324		chr16	TogoVar
ERICH1_chr8_659200_736224	675953	TGAGGACA others(378): Show TGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAG AGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGA GGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCT CGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCC CCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01981.hp1 others(42): Show HG00544.hp2 HG00609.hp1 HG01981.hp1 HG02027.hp2 HG02056.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02559.hp2 HG02738.hp2 HG02895.hp2 HG03209.hp1 HG03654.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18944.hp2 NA18945.hp1 NA18951.hp2 NA18964.hp2 NA18969.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA19002.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19060.hp2 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 others(41): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0220 a0001c0001t0002g0274 a0001c0001t0002g0290 a0001c0001t0003g0108	45	378	0.1191	-385	c.305 others(17): Show c.305-2291_305-1907del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ESYT2_chr7_158725997_158834509	158803774	CCGAGAAG others(378): Show CCGAGAAGGGTGAGGCGCGTGACAAACCCAAACCGTTGAGAAGGGTGAGG CGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCA AACCACGGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGG TGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAA ACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAG AAGGGTGAGGCGCGCGACAAACCCAAACTGTTGAGAAGGGTGAGGCGCGC GACAAACCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCG TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0347 a0003c0003t0004g0347	1	370	0.0027	-385	c.331 others(17): Show c.331-5087_331-4703del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ETF1_chr5_138501095_138548236	138537921	TTGCTCTT others(378): Show TTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACCG CAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAG TAGCTGAGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTT TAGTAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGAC CTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCG TGAGCCACCACGCCCGGCCTGGGCCCCTATTATTTTTGAGACAGAGTTTC ACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGAATCCCGGCTCACTGCAA CCTACGCCTCCAAGGTTCAAGCATTTCTCCTGCCTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02683.hp2 others(10): Show HG02280.hp1 HG02572.hp2 HG02683.hp2 HG03139.hp1 HG03486.hp1 HG03486.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18941.hp1 NA19005.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0010 a0001c0001t0002g0237 a0001c0001t0002g0295 others(9): Show a0001c0001t0002g0010 a0001c0001t0002g0237 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0010g0296	13	334	0.0389	-385	c.86+ others(15): Show c.86+4527_86+4911del	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	2/10			chr5	TogoVar
IFT57_chr3_108155812_108227424	108205678	AGGACTAA others(378): Show AGGACTAATAGAGCATTACTTTCCATATGTACTTTTTGAGGGTACAATAG GTATATATCCTTGATTAATATATAACATATTATATAATATATAAAATATT ATAACATATTATATAATATACAAAATATTATAGCATATTATATATTATTT ATATATTATTTAATTAATTTAACATATATTTATATAACATATTTATTATA TATTAATATATTTATAATACATAATTATATATTAATATATATTATTTATA ATATATAAATATATTAGTTTATAATATATAAATATATTATATATTTATAT ATAATATATAATATATTTATGTTATATATTACTTATATATAATATATTGT ATATTATTTATAATATATATTATATATTATTTATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	354	0.0028	-385	c.654 others(15): Show c.654+565_654+949del	IFT57	ENSG00000114446.5	transcript	ENST00000264538.4	protein_coding	5/10			chr3	TogoVar
KLHDC4_chr16_87702812_87770986	87726200	CCCGCGCC others(378): Show CCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACGC CGCGCCTCGGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACGCC GCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACGCCGC GCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACGCCGCGC CTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCT CGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCG CCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCC CGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG02896.hp2 HG02559.hp1 HG02615.hp1 HG02896.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0004 a0007c0009t0004 a0001c0001t0004 a0007c0009t0004	a0001c0001t0004g0033 a0007c0009t0004g0034 a0007c0009t0004g0035 a0001c0001t0004g0033 a0007c0009t0004g0034 a0007c0009t0004g0035	3	380	0.0079	-385	c.759 others(15): Show c.759+180_759+564del	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
MAD1L1_chr7_1810795_2237945	2035312	AGGAGCAC others(378): Show AGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATG AGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAG GCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCT CCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCC AGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGG GGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGA GCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTGGGG ACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03486.hp2 HG02698.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0161 a0001c0001t0002g0103 a0001c0001t0001g0161 a0001c0001t0002g0103	2	264	0.0076	-385	c.121 others(21): Show c.1219-21055_1219-20671del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
NXN_chr17_794310_984776	952366	TGGGGGGG others(378): Show TGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCAC GGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAAC CCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAG ACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGG CTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTC ACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGG TACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGT TGGAACCCGGCAGGTACCACGGACGGTCACACTGTG	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0052 a0001c0001t0023g0052	1	242	0.0041	-385	c.360 others(19): Show c.360+26568_360+26952del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
RGPD4_chr2_107821892_107897544	107827461	GGGCGCTG others(378): Show GGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGAGGCCTCGACCCGGCC CGGTGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCT CCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCTGGCCCGGCGGCGGC CTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCACG CTCTGTTGAGGCGGCGGCCTCGACCTGGCTGGGCGGCGGCGGCCTGGACC TGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCTGACGGGCG CTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCG GCGGCCTCGATGGCTCAGGCGTCATGCCTCCCGACC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19240.hp2 NA18522.hp2 NA19240.hp2	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0020 a0019c0027t0020	a0019c0027t0020g0011 a0019c0027t0020g0012 a0019c0027t0020g0011 a0019c0027t0020g0012	2	374	0.0054	-385	c.72+ others(13): Show c.72+408_72+792del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827604	CGGCGGCC others(378): Show CGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCC TGGCACGCTCTGTTGAGGCGGCGGCCTCGACCTGGCTGGGCGGCGGCGGC CTGGACCTGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCTG ACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGG CCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGCCTCCCGACCGGCGCTG CTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCG GCGGCCTCGACCTGGCCCGGAGGCGGCCTCGATGGCTCAGGCATCATGGC TCCCGACGGGCGCTGCTCCCTGACGCGCTCTGTTGA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0057 a0057	a0057c0052 a0057c0052	a0057c0052t0002 a0057c0052t0002	a0057c0052t0002g0064 a0057c0052t0002g0064	1	374	0.0027	-385	c.72+ others(13): Show c.72+526_72+910del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1289469	TCCCCCGT others(378): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0125 a0004c0005t0010g0125	1	290	0.0035	-385	c.166 others(17): Show c.1663-798_1663-414del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)