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
PCGF3_chr4_700832_775089	744984	CCCGGGGG others(276): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	366	0.0027	-283	c.462 others(15): Show c.462+299_462+581del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745194	GTGAGCAG others(276): Show GTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC	G G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0127 a0001c0003t0010g0127	1	366	0.0027	-283	c.462 others(15): Show c.462+507_462+789del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10			chr4	TogoVar
PCGF3_chr4_700832_775089	746009	CCCGGGGG others(276): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA19004.hp1 NA19005.hp1 HG04204.hp2 NA19004.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0035 a0001c0003t0005 a0001c0003t0054 a0001c0001t0035 a0001c0003t0005 a0001c0003t0054	a0001c0001t0035g0046 a0001c0003t0005g0139 a0001c0003t0054g0134 a0001c0001t0035g0046 a0001c0003t0005g0139 a0001c0003t0054g0134	3	366	0.0082	-283	c.462 others(17): Show c.462+1324_462+1606del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PLEKHN1_chr1_961482_980865	977217	CCCCCCAC others(276): Show CCCCCCACCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGA ACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCT CCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAAC CCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCG CTCCCCCCACCAACCCCGGGAACCGCCTCCCGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0031 a0002c0008t0031	a0002c0008t0031g0005 a0002c0008t0031g0005	1	422	0.0024	-283	c.26 others(11): Show c.2643_*2925del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1353		chr1	TogoVar
PPP6R2_chr22_50338327_50450090	50397647	CTCTGAGC others(276): Show CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGAGTGTGA CTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCA	C C	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0249 a0001c0003t0008g0249	1	340	0.0029	-283	c.227 others(17): Show c.227+3516_227+3798del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PXMP2_chr12_132682587_132709985	132692568	TTGCCAGT others(276): Show TTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAAGTGAGCGCCCT TAGCCAGTTAGATAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCT TAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCACCCTT GCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCCTTAGCTA GTTAGAGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAG TTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCC	T T	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0157 a0001c0003t0003g0157	1	350	0.0029	-283	c.236 others(17): Show c.236+2194_236+2476del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
SAMD11_chr1_918923_949574	934542	GGGAGGCT others(276): Show GGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGT GGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGC AGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0248 a0002c0003t0004g0248	1	434	0.0023	-283	c.843 others(16): Show c.843-1227_843-945del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SENP1_chr12_48037897_48111079	48056778	TATTACAT others(276): Show TATTACATATATATTATTTAATATATTACATATTACATATATAAATATAT TTAACATATTACATATTACATATATATTATTTAATATATTACATATTACA TATATAATATATTATTTAATATATTACATATTACATATATAATATATTAT TTAATATATTACATATTACATATATAATATATTATTTAATATATTACATA TTACATATATAAATATATTATTTAATATATTACATATTACATATATAAAT ATATTATTTAATATATTATATATTACATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp2 NA19077.hp1 others(1): Show HG02622.hp2 HG02886.hp2 NA19077.hp1 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0293 a0001c0003t0008g0294 a0001c0003t0008g0350 others(1): Show a0001c0003t0008g0293 a0001c0003t0008g0294 a0001c0003t0008g0350 a0001c0003t0008g0351	4	394	0.0102	-283	c.140 others(19): Show c.1407+6649_1407+6931del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SLX9_chr21_44935029_44981973	44981690	CGGGGCCC others(276): Show CGGGGCCCGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAG GGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTG TTCAGGGGGGACAGCGGGGCCCGGACGGGGCCCTGCACACAGAGCCTGCG TGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGA GCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGCCCTGCA CACAGAGCCTGCGTGTGGTGTTCACGGGGGACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(39): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG01106.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG02004.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02300.hp2 HG02630.hp2 HG03453.hp1 HG03834.hp1 HG04199.hp2 NA18952.hp1 NA18959.hp2 NA18964.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA19000.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19066.hp1 NA19074.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19091.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0196 a0001c0001t0001g0199 a0002c0002t0001g0002 others(28): Show a0001c0001t0001g0196 a0001c0001t0001g0199 a0002c0002t0001g0002 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0003c0003t0001g0142 a0003c0003t0001g0181 a0004c0004t0001g0017 a0004c0004t0001g0042 a0004c0004t0001g0219 a0004c0004t0001g0220 a0004c0004t0001g0221 a0004c0004t0001g0222 a0004c0004t0001g0223 a0004c0004t0001g0225 a0004c0004t0001g0227	42	334	0.1258	-283	c.48 others(11): Show c.4888_*5170del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4718		chr21	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76634681	TGGGATTT others(276): Show TGGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00735.hp2 others(60): Show HG00639.hp1 HG00639.hp2 HG00735.hp2 HG01074.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0010 a0001c0003t0022 a0002c0002t0007	a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0034 others(60): Show a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0047 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0026 a0001c0001t0003g0062 a0001c0001t0003g0077 a0001c0001t0003g0102 a0001c0001t0004g0017 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0049 a0001c0001t0004g0094 a0001c0001t0006g0003 a0001c0001t0006g0005 a0001c0001t0006g0087 a0001c0001t0006g0093 a0001c0001t0010g0063 a0001c0001t0012g0100 a0001c0001t0016g0018 a0001c0001t0017g0010 a0001c0001t0018g0075 a0001c0001t0019g0082 a0001c0001t0020g0097 a0001c0001t0021g0065 a0001c0001t0023g0067 a0001c0001t0024g0090 a0001c0001t0025g0043 a0001c0001t0026g0029 a0001c0001t0027g0032 a0001c0001t0028g0006 a0001c0001t0029g0073 a0001c0003t0002g0004 a0001c0003t0002g0024 a0001c0003t0003g0040 a0001c0003t0003g0092 a0001c0003t0005g0016 a0001c0003t0005g0037 a0001c0003t0005g0054 a0001c0003t0005g0071 a0001c0003t0005g0074 a0001c0003t0006g0044 a0001c0003t0010g0086 a0001c0003t0022g0020 a0002c0002t0007g0001 a0002c0002t0007g0039 a0002c0002t0007g0060 a0002c0002t0007g0061	63	102	0.6177	-283	c.58 others(11): Show c.5876_*6158del	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding		79		chr1	TogoVar
TUBGCP2_chr10_133273635_133313872	133292092	TCCGTGTC others(276): Show TCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGG AGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTG TCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACG GGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCC CATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATG CACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	284	0.0035	-283	c.121 others(17): Show c.1214+124_1214+406del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
B3GNTL1_chr17_82937149_83056770	83022284	CCCCACCT others(275): Show CCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCC CACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCAC CTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTG CACCAGCGTGAACTCACATTAGCTTAGCACTGTCCCCGGCCCACCTGCAC CAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAG CGTGAACTCACATGAGCTTAGCACTGTCCCCGG	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0043 a0002c0015t0003g0043	1	266	0.0038	-282	c.298 others(17): Show c.298-8047_298-7766del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BRSK2_chr11_1384934_1467689	1430684	GTCTGGTC others(275): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0279 a0002c0002t0033g0279	1	360	0.0028	-282	c.92- others(15): Show c.92-5355_92-5074del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432799	GTCTTCTG others(275): Show GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01515.hp1 HG01099.hp2 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0169 a0002c0002t0002g0170	2	360	0.0056	-282	c.92- others(15): Show c.92-3206_92-2925del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C13orf46_chr13_113948705_113979076	113974168	TGCAGGCC others(275): Show TGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGC AGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGG CCGGGGTTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCG GGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGG TTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	414	0.0024	-282	c.-45 others(9): Show c.-453_-172del	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		93		chr13	TogoVar
CACNA2D4_chr12_1786963_1923652	1921487	CCACAGCC others(275): Show CCACAGCCACGAGGCCCTACCTGGCTGGAGCTGGCTTGATTTTAAAAATC ATTCCAAATTACAAATTTTAAGAAGCTGATGAATGCCACCAAATTCACAG CCACGAGGCCCCACCTGGCTGGAGCTGGCTTGATTTTAAAAATCATTCCA AATTACAAATTTTAAGAAGCTGATGAATGCCACCAAATTCACAGCCACGA GGCCCCACCTGGCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTAC AAATTTTAAGAAGCTGATGAATGCCACCAAATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01106.hp1 others(14): Show HG00140.hp2 HG00735.hp2 HG01106.hp1 HG01891.hp1 HG01978.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02293.hp1 HG02572.hp1 HG02723.hp2 HG02735.hp1 HG02965.hp2 NA18906.hp2 NA19002.hp1 NA19004.hp1 NA19084.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0047 a0001c0056 a0018c0050	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0002 a0001c0004t0001 a0001c0007t0001 a0001c0047t0001 a0001c0056t0001 a0018c0050t0017	a0001c0001t0001g0083 a0001c0001t0001g0166 a0001c0001t0002g0037 others(14): Show a0001c0001t0001g0083 a0001c0001t0001g0166 a0001c0001t0002g0037 a0001c0001t0003g0043 a0001c0001t0003g0055 a0001c0001t0003g0181 a0001c0001t0004g0016 a0001c0001t0005g0223 a0001c0001t0008g0165 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0004t0001g0044 a0001c0007t0001g0035 a0001c0007t0001g0046 a0001c0047t0001g0070 a0001c0056t0001g0291 a0018c0050t0017g0010	17	318	0.0535	-282	c.-32 others(11): Show c.-3296_-3015del	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding		2836		chr12	TogoVar
CACNA2D4_chr12_1786963_1923652	1921504	TACCTGGC others(275): Show TACCTGGCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATT TTAAGAAGCTGATGAATGCCACCAAATTCACAGCCACGAGGCCCCACCTG GCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATTTTAAGA AGCTGATGAATGCCACCAAATTCACAGCCACGAGGCCCCACCTGGCTGGA GCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATTTTAAGAAGCTGA TGAATGCCACCAAATTCACAGCCACGAGGCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG03471.hp2 NA19043.hp1 HG01106.hp2 HG03471.hp2 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0042 a0001c0045 a0006c0038 a0001c0042 a0001c0045 a0006c0038	a0001c0042t0001 a0001c0045t0001 a0006c0038t0001 a0001c0042t0001 a0001c0045t0001 a0006c0038t0001	a0001c0042t0001g0047 a0001c0045t0001g0143 a0006c0038t0001g0116 a0001c0042t0001g0047 a0001c0045t0001g0143 a0006c0038t0001g0116	3	318	0.0094	-282	c.-33 others(11): Show c.-3313_-3032del	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding		2853		chr12	TogoVar
CCDC73_chr11_32597721_32799662	32755855	GTGTATAT others(275): Show GTGTATATATCTCCATATATATATCTGTGTATATATCTCCATATATATCT ATATATATCTCCATATATATATCTATATATATATCTCCATATATATATCT ATATATATATCTCCATATATATATCTATATATATATCTCCATATATATAT CTATATATATATCTCCATATATATATCTATATATATATCTCCATATATAT ATCTATATATATATCTCCATATATATATCTATATATATATCTCCATATAT ATATCTATATATATATCTCCATATATATATCTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	312	0.0032	-282	c.135 others(17): Show c.135+3972_135+4253del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CENPE_chr4_103100811_103203343	103112537	CACTTATA others(275): Show CACTTATAAGTATATATGTGTATGTATGTATATATACTTATAAATGTATA CATACTTATAAGTATATATAAGTCTGTATATATACTTGTAAGTATATATA AGTGGATATATACTTATAAGTATATATAAGTCTGCATATATACTTGTAAG TATATATAAGTGTATATATATACTTATAAGTATATAAGTGTATATATATA CTTATAAGTATATAAGTGTATATATATACTTATAAGTATATAAGTGTATA TATATACTTATAAGTATATAAGTGTATATATAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0069 a0001c0004t0001g0069	1	320	0.0031	-282	c.754 others(19): Show c.7540+1636_7541-1527del	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CHCHD6_chr3_126699240_126965420	126862771	ACCTCCTC others(275): Show ACCTCCTCCTCCTCCACCATCACCACCTTCCCCTCTACCACCATCACCAA CTCCCCCTCCTCCACCATCACCACCTCCTCCTCCACCATCACCACCTCCT CCTCCACCATCACTACCTCCTCCTCCTCCACCATCACCACCTCCTCCTCC TCCACCATCACCACCTTCCCCTCTACCACCATCACCAACTCCCCCTCCTC CACCATCACCACCTCCTCCTCCACCATCACCACCTCCTCCTCCACCATCA CTACCTCCTCCTCCTCCACCATCACCACCTCCT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	216	0.0046	-282	c.495 others(19): Show c.495+10053_495+10334del	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126862795	ACCTTCCC others(275): Show ACCTTCCCCTCTACCACCATCACCAACTCCCCCTCCTCCACCATCACCAC CTCCTCCTCCACCATCACCACCTCCTCCTCCACCATCACTACCTCCTCCT CCTCCACCATCACCACCTCCTCCTCCTCCACCATCACCACCTTCCCCTCT ACCACCATCACCAACTCCCCCTCCTCCACCATCACCACCTCCTCCTCCAC CATCACCACCTCCTCCTCCACCATCACTACCTCCTCCTCCTCCACCATCA CCACCTCCTCCTCCTCCTCCACCATCATCACCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(74): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00639.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02074.hp1 HG02080.hp2 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03471.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18943.hp2 NA18945.hp2 NA18954.hp2 NA18962.hp1 NA18980.hp1 NA18983.hp1 NA18998.hp2 NA19000.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0001g0084 others(74): Show a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0003g0173 a0001c0001t0003g0179 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0111 a0002c0002t0001g0018 a0002c0002t0001g0052	77	216	0.3565	-282	c.495 others(19): Show c.495+10069_495+10350del	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNN2_chr19_1021608_1044065	1034038	GACGGTGT others(275): Show GACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGTAA GCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACG GTGTCTGGTGTAGACCGGGAGCGTGGGTGGGAC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG01099.hp1 others(16): Show HG00735.hp2 HG01074.hp2 HG01099.hp1 HG01261.hp1 HG01516.hp1 HG02071.hp2 HG02257.hp2 HG02300.hp2 HG02572.hp1 HG02738.hp2 HG02970.hp1 HG03041.hp2 HG03688.hp2 HG06807.hp2 NA18944.hp1 NA18947.hp2 NA18990.hp2 NA19065.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0002 a0001c0001t0009 a0001c0002t0004 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0004 a0001c0002t0012 a0001c0016t0024	a0001c0001t0002g0007 a0001c0001t0009g0007 a0001c0001t0009g0141 others(12): Show a0001c0001t0002g0007 a0001c0001t0009g0007 a0001c0001t0009g0141 a0001c0001t0009g0171 a0001c0002t0004g0007 a0001c0002t0004g0018 a0001c0002t0004g0095 a0001c0002t0004g0209 a0001c0002t0004g0226 a0001c0002t0004g0230 a0001c0002t0004g0237 a0001c0002t0004g0252 a0001c0002t0012g0221 a0001c0002t0012g0238 a0001c0016t0024g0094	19	390	0.0487	-282	c.390 others(17): Show c.390+1451_391-1702del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX51_chr12_132131594_132149319	132134722	CCGAGTGT others(275): Show CCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCAC GGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCC ACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTG CCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTC CTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCG AGTGTGCCCACGGTGCCCACTCCTCCCACCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG02055.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0054 a0002c0002t0002g0003 a0002c0002t0002g0054	2	334	0.0060	-282	c.42 others(11): Show c.4268_*4549del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1871		chr12	TogoVar
DDX51_chr12_132131594_132149319	132134907	CCCCGGTG others(275): Show CCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCT ACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCTCC GAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCA CCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCC CACGGTGCCCGCTCCTCCCACCTCCCGAGTATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0049 a0002c0002t0033g0049	1	334	0.0030	-282	c.40 others(11): Show c.4083_*4364del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1686		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135180	CCCGAGTA others(275): Show CCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTG CCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTA CCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCC GAGTGTGCCCACGGTGCCCGCTACCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19083.hp2 NA19065.hp1 NA19083.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0014 a0002c0002 a0006c0014	a0002c0002t0003 a0006c0014t0003 a0002c0002t0003 a0006c0014t0003	a0002c0002t0003g0005 a0006c0014t0003g0039 a0002c0002t0003g0005 a0006c0014t0003g0039	2	334	0.0060	-282	c.38 others(11): Show c.3810_*4091del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1413		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135285	CCCGAGTG others(275): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCG GTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCC CACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTG TGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCC ACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0019 a0005c0007t0011g0019	1	334	0.0030	-282	c.37 others(11): Show c.3705_*3986del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1308		chr12	TogoVar
EXOC2_chr6_480154_698139	601450	CCACACAC others(275): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCA	C C	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	272	0.0037	-282	c.743 others(17): Show c.743-2507_743-2226del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FOXN3_chr14_89151177_89422233	89362304	CACCACCT others(275): Show CACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCACCA CCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAGCACC ACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAG CTCCACCACCTCCTCCTCCACCACCACCACCACCACCACCACCATCTCCA CCACCACCACCACCATCTCTACGACCACCACCACCACCATCTCCACCACC ACCTCCACCACCACCACCACCACCATCTCTACG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01346.hp1 HG01934.hp1 others(2): Show HG00639.hp1 HG01346.hp1 HG01934.hp1 HG04184.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0001c0003t0001	a0001c0001t0001g0146 a0001c0001t0005g0195 a0001c0001t0005g0213 others(2): Show a0001c0001t0001g0146 a0001c0001t0005g0195 a0001c0001t0005g0213 a0001c0001t0018g0138 a0001c0003t0001g0137	5	230	0.0217	-282	c.544 others(19): Show c.544-11778_544-11497del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GALNS_chr16_88808734_88861947	88834319	GCTCTCCC others(275): Show GCTCTCCCCACCACGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCG TGGTCTGGGAAGAGGCTGCAGGGCCCCCCCGCGTGGTCTGGGAAGAGGCT GCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCG TGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGA GGCTGTAGGGCTCTCCCCACCGCGTGGTCTGGGAAGAGGCTGCAGGGCCC CCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01175.hp1 others(15): Show HG00741.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01496.hp1 HG01952.hp1 HG02132.hp1 HG02148.hp1 HG02293.hp1 HG02602.hp1 HG02818.hp1 HG03704.hp1 HG04115.hp2 NA18982.hp1 NA18983.hp2 NA19079.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0023 a0002c0003t0001g0157 others(14): Show a0002c0003t0001g0002 a0002c0003t0001g0023 a0002c0003t0001g0157 a0002c0003t0001g0161 a0002c0003t0001g0192 a0002c0003t0001g0223 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0252 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0284 a0002c0003t0001g0288 a0002c0003t0001g0344 a0002c0003t0001g0366 a0002c0003t0001g0375	18	404	0.0446	-282	c.898 others(15): Show c.898+612_898+893del	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13			chr16	TogoVar
GPD1L_chr3_32101620_32173709	32162369	ACCTTAAT others(275): Show ACCTTAATTACCTTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp2 others(194): Show HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0001c0008t0001 a0002c0005t0007	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(181): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0003g0031 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0088 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0154 a0001c0001t0003g0157 a0001c0001t0003g0206 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0263 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0005g0012 a0001c0001t0005g0123 a0001c0001t0005g0134 a0001c0001t0005g0151 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0007g0211 a0001c0001t0007g0262 a0001c0001t0007g0281 a0001c0001t0007g0313 a0001c0001t0008g0018 a0001c0001t0008g0223 a0001c0001t0008g0242 a0001c0001t0008g0243 a0001c0001t0011g0054 a0001c0001t0011g0279 a0001c0001t0011g0280 a0001c0001t0011g0283 a0001c0001t0016g0307 a0001c0001t0016g0308 a0001c0001t0017g0033 a0001c0001t0017g0041 a0001c0001t0018g0217 a0001c0001t0018g0218 a0001c0001t0033g0266 a0001c0001t0034g0030 a0001c0001t0035g0066 a0001c0001t0036g0220 a0001c0002t0001g0102 a0001c0002t0001g0144 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0305 a0001c0002t0001g0323 a0001c0004t0001g0146 a0001c0007t0001g0036 a0001c0008t0001g0145 a0002c0005t0007g0282	197	360	0.5472	-282	c.959 others(17): Show c.959+2712_959+2993del	GPD1L	ENSG00000152642.11	transcript	ENST00000282541.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
HACL1_chr3_15555699_15606569	15592549	CATGTGTG others(275): Show CATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG TACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATA CACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCG TGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATG TGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACG CACATGTGTGCGTGTATACACATGTACGCACAT	C C	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	428	0.0023	-282	c.228 others(16): Show c.228-1151_228-870del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
LSS_chr21_46183446_46233774	46183535	GGGAGACC others(275): Show GGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTG GTGAGGAGACCAGCCTGGGGGAGGAGACCAGCCTTGTGGGGGAGACCAGC CTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACC AGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCTTGCGGGGGAGA CCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGG AGACCAGCCTGGTGAGGAGACCAGCCTGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03831.hp1 others(6): Show HG03491.hp1 HG03492.hp1 HG03831.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18945.hp2 NA18952.hp1 NA18965.hp2	a0001 a0010 a0001 a0010	a0001c0005 a0010c0027 a0001c0005 a0010c0027	a0001c0005t0006 a0010c0027t0006 a0001c0005t0006 a0010c0027t0006	a0001c0005t0006g0004 a0001c0005t0006g0039 a0001c0005t0006g0260 others(2): Show a0001c0005t0006g0004 a0001c0005t0006g0039 a0001c0005t0006g0260 a0001c0005t0006g0262 a0010c0027t0006g0263	9	358	0.0251	-282	c.72 others(11): Show c.7287_*7568del	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		4910		chr21	TogoVar
LY6E_chr8_143013529_143027409	143014550	GCCGTGTG others(275): Show GCCGTGTGAGGAGGAGGGAGTGCCGTGTGAGGAGGAGGAGGGAGTCCTGT GTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAG GAGGGAGTGCTGTGTGAGGAGGAGGAGGGAGTCCTGTGTGAGGAGGAGGG AGTCCCGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTCCCGT GTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGAGTCCTGTGTGAG GAGGAGGGAGTGCCGTGTGAGGAGGAGGGAGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	377	0.0027	-282	c.-40 others(11): Show c.-4093_-3812del	LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding		3978		chr8	TogoVar
MAD1L1_chr7_1810795_2237945	2058125	CGCGGGGC others(275): Show CGCGGGGCTGGAGAGGGAGTGTGGCTAGAGGAGAGAAGCAGGGCTGGAGA GGGAGTGTGGCCAGAGGAGAGGAGAGGCGCGGGGCTGGAGAGGGAGTGTG GCCAGAGGAGAGGAGAGGCGCGGGGCTGGAGAGGGAGTGTGGCCAGAGGA GAGGAGAGGCGCGGGGCTGGAGAGGGAGTGTGGCCAGAGGAGAGGAGAGG CGCGGGGCTGGAGAGGGAGTGTGGCCAGAGGAGAGGAGAGGCGCGGGGCT GGAGAGGGAGTGTGGCCAGAGGAGAGGAGAGGG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp2 others(32): Show HG00280.hp1 HG00408.hp2 HG00544.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01361.hp2 HG01884.hp1 HG01975.hp1 HG01978.hp2 HG02040.hp1 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18954.hp2 NA18967.hp2 NA18973.hp1 NA18975.hp1 NA18981.hp1 NA18999.hp2 NA19064.hp1 NA19081.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 others(32): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0002g0055 a0001c0001t0002g0103 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0201 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0003t0001g0051 a0001c0003t0002g0083 a0002c0005t0001g0240 a0002c0005t0002g0121	35	264	0.1326	-282	c.121 others(21): Show c.1218+10787_1218+11068del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MPPED1_chr22_43407014_43512848	43499996	AGGTGGCG others(275): Show AGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGAGGGAGGTGGTG ATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGCGATGGA GGTGGTAGTGGGGGTGATGAAGGTGGTGATGGAGGTGGTAATGGAGGTGG TGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGTGATGGAG GTGGTAATGGAGGTGGTGGGGGTGATGGTGGAGGTGGTGATGGAGGTGGC AGTGATGATGGTGGTGATGGTGATGGAGGTGGC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0018 a0001c0008t0018	a0001c0008t0018g0011 a0001c0008t0018g0011	1	250	0.0040	-282	c.748 others(17): Show c.748+1652_748+1933del	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
NGEF_chr2_232873701_233018256	232900090	TTAGACAC others(275): Show TTAGACACATGCTCTCAGTCACTCATATACACGTTCACTCACATTCTCAC ACACACACGCTCACAGTCACTCATATACACGTTCACTCACATTCACACAC ACGCTCTCACAGTCACTCATATACACGTTCACTCACATTCACACACACAC GCTCTCAGTCACTCATATACACGTTCACTCACATTCACACACACACGCTC TCAGTCACTCATATACACGTTCACTCACATTCACTCACACACGCTCTCAC AGTCACTCATACACGTTCACTCACATTCACTTA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0030 a0002c0006t0030	a0002c0006t0030g0341 a0002c0006t0030g0341	1	362	0.0028	-282	c.829 others(17): Show c.829-5456_829-5175del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NLRP11_chr19_55780399_55836999	55835592	GGCACTTT others(275): Show GGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAAGGGTTCGA GACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAA ATTAGCCGAGGCCAGGCACAGTGGCTCATGCCTGTAATTCCGGCACTTTG GGAGGCCGAGGCGGTCAGAACACTTGAGGTCAAGGGTTCGAGACCAGCCT GGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGCCGA GGCCAGGCACAGTGGCTCATGCCTGTAATCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0010 a0001c0001t0015g0010	1	444	0.0023	-282	c.-39 others(11): Show c.-3974_-3693del	NLRP11	ENSG00000179873.14	transcript	ENST00000589093.6	protein_coding		3594		chr19	TogoVar
NLRP4_chr19_55831540_55886855	55835592	GGCACTTT others(275): Show GGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAAGGGTTCGA GACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAA ATTAGCCGAGGCCAGGCACAGTGGCTCATGCCTGTAATTCCGGCACTTTG GGAGGCCGAGGCGGTCAGAACACTTGAGGTCAAGGGTTCGAGACCAGCCT GGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGCCGA GGCCAGGCACAGTGGCTCATGCCTGTAATCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0326 a0001c0001t0028g0326	1	424	0.0024	-282	c.-14 others(11): Show c.-1407_-1126del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding		947		chr19	TogoVar
PLCXD1_chrX_276381_308356	277572	GCACGTGG others(275): Show GCACGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGAT GTGAGGGGAGGGCTCAGGAGGACATGGGGACAGGTGTGGGGACAGGAGTG GACACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGGGGAGGGGTCAGGG CACGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGATG TGAGGGGAGGGGTCAGGGCACGTGGGGACAGGAGTGGACACCCCTCAGTG GTCAGGGGACCTGGGATGTGAGGGGAGGGCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01123.hp2 HG01496.hp1 others(14): Show HG00735.hp2 HG01123.hp2 HG01496.hp1 HG01496.hp2 HG02056.hp1 HG02148.hp2 HG02257.hp2 HG02293.hp2 HG02559.hp1 HG03486.hp1 NA18941.hp1 NA18969.hp1 NA18980.hp1 NA19009.hp1 NA19011.hp2 NA19057.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0001t0025 a0001c0001t0026 others(13): Show a0001c0001t0009 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0003t0035 a0001c0003t0036 a0001c0003t0055 a0001c0003t0065 a0001c0003t0089	a0001c0001t0009g0065 a0001c0001t0009g0067 a0001c0001t0025g0079 others(14): Show a0001c0001t0009g0065 a0001c0001t0009g0067 a0001c0001t0025g0079 a0001c0001t0026g0064 a0001c0001t0027g0059 a0001c0001t0028g0070 a0001c0001t0029g0019 a0001c0001t0031g0066 a0001c0001t0032g0058 a0001c0001t0033g0078 a0001c0001t0034g0069 a0001c0001t0037g0063 a0001c0003t0035g0006 a0001c0003t0036g0006 a0001c0003t0055g0010 a0001c0003t0065g0012 a0001c0003t0089g0011	17	176	0.0966	-282	c.-41 others(11): Show c.-4133_-3852del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		3808		chrX	TogoVar
PRKCA_chr17_66297613_66815743	66798494	GTGGTGGT others(275): Show GTGGTGGTGGTGGTGACGGTGGTGACGGTGGTGGTGATGGTGGTGACGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0083 a0001c0002t0006g0083	1	178	0.0056	-282	c.185 others(19): Show c.1855-5364_1855-5083del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798539	ACGGTGGT others(275): Show ACGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGATGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18983.hp2 HG02486.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0010 a0001c0001t0003 a0001c0003t0010	a0001c0001t0003g0046 a0001c0003t0010g0064 a0001c0001t0003g0046 a0001c0003t0010g0064	2	178	0.0112	-282	c.185 others(19): Show c.1855-5333_1855-5052del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16			chr17	TogoVar
RBFOX1_chr16_6014024_7718340	6779989	TTATATAT others(275): Show TTATATATTTATATATATTTATATATATTTATATATTTATATATATTTAT ATATATTTACATATTTATATATATTTATATATATTTACATATTTATATAT ATTTATATATTTTTATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATATTTATATATTTTTATATATTTATATATAT ATTTATATATTTTTATATATTTATATATATTTATATATATATTTATATAT ATTTACATATATATTTATATATATATTTATACA	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0048 a0001c0001t0025g0048	1	68	0.0147	-282	c.-16 others(21): Show c.-16+125347_-16+125628del	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCTR_chr2_119434843_119529483	119444644	TACACATA others(275): Show TACACATATATACGTACGAATATATATACACATATATACGTACGAATATA TATACACATATATACGTACGAATATATATACACATATATACGTACGAATA TATATACACATATATACGTACGAATATATATACACATATATACGTACGAA TATATATACACATATATTCGTACGAATATATATACACATATATTCGTACG AATATATATACACATATATTCGTACGAATATATATACACATATATTCGTA CGAATATATATACATATATTCGTACGAATATAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19030.hp2 HG03139.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0239 a0001c0002t0005g0281 a0001c0002t0005g0239 a0001c0002t0005g0281	2	290	0.0069	-282	c.114 others(19): Show c.1140+1833_1140+2114del	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SGK1_chr6_134164256_134323112	134271071	CTTTGGGA others(275): Show CTTTGGGAGGCCGAGGCAGGCAGATCACCTAAGGTCAGGAGTTTGAGACC AGTCTGGCCAACATATAGTGAAACTCCATCTCTACTAAAAATACAAAAAT TAGTCGGGCGCGGGGGCACATGCCTGTAATTCCAGCTACTTGGGAGACTG AGGCAGGAGAATCACTTGAACCTAGGTGGCGGAGGTTGCAGTGAGCCGAG ATTGCACCACTAGACTCCAGTCTGCAGAGTGAAACTGTCTCAAAAAAAAA AAAAAATTGTGGGACTCATTCTTTTCGTTTGAA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA20905.hp1 HG01993.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0147 a0001c0001t0001g0123 a0001c0001t0001g0147	2	250	0.0080	-282	c.70- others(15): Show c.70-9205_70-8924del	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	1/13			chr6	TogoVar
SLC12A7_chr5_1045384_1117063	1072108	GGGCATCA others(275): Show GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCAT CACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGG CATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0020 a0001c0018t0020	a0001c0018t0020g0076 a0001c0018t0020g0076	1	118	0.0085	-282	c.224 others(19): Show c.2241+1243_2241+1524del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072556	GCCCCAGT others(275): Show GCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTATGCAGCCC CCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGC CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGCACACGGTATCACACTTATGCAGC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0054 a0001c0035t0001g0054	1	118	0.0085	-282	c.224 others(18): Show c.2241+795_2241+1076del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC9A3_chr5_465456_529449	495379	TCCCCGCG others(275): Show TCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGC CGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGC TCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCC ATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCC CACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCC GCGCCATCGCCGACCCTCCCCACGCTCCACTCC	T T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18990.hp1 NA19088.hp1 NA18939.hp1 NA18990.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0088 a0001c0001t0004g0089 a0001c0001t0005g0184 a0001c0001t0001g0088 a0001c0001t0004g0089 a0001c0001t0005g0184	3	218	0.0138	-282	c.212 others(17): Show c.212-3590_212-3309del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SNX8_chr7_2246770_2319441	2278812	CGCCGGAC others(275): Show CGCCGGACTCACACTACGGAGTCGACGCCGGACTCACTCACACTACGGAG TCGACGCCGGACTCACTCACACTACGGAGTCGAAGCCGGACTCACTCACA CTACGGAGTCGACGCCGGACTCACTCACACTACGGAGTCGACGCCGGACT CACTCACACTACGGAGTCGACGCCGGACTCACACTACGGAGTCGACGCCG GACTCACTCACACTACGGAGTCGAAGCCGGACTCACTCACACTACGGAGT CGACGCCGGACTCACTCACACTACGGAGTCGAA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04228.hp2 HG03239.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0258 a0001c0001t0001g0242 a0001c0001t0001g0258	2	370	0.0054	-282	c.95- others(13): Show c.95-789_95-508del	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SORCS2_chr4_7187538_7747827	7386172	CGCACGCA others(275): Show CGCACGCACACACATGCACACACATACACATTTGCACACACGCACACACA TGCCCACCATACACATGCACACGTGCACACACATACAGGTACACAGAGAT ACACACGCACATGCACACACATGCACACACATACACATTTGCACACACGC ACACATATGCCCACCATACACATGAACACATGCACACACAGATACACAGA AATACATGCACACACACATGGACATACACATATGTACACACGCACACATG CACACACATACAGGTACACAGAGATACACATGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03209.hp1 HG02922.hp1 HG03209.hp1	a0001 a0017 a0001 a0017	a0001c0036 a0017c0054 a0001c0036 a0017c0054	a0001c0036t0044 a0017c0054t0022 a0001c0036t0044 a0017c0054t0022	a0001c0036t0044g0022 a0017c0054t0022g0113 a0001c0036t0044g0022 a0017c0054t0022g0113	2	168	0.0119	-282	c.481 others(18): Show c.481-10044_481-9763del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATC1L_chr21_46156160_46189459	46183535	GGGAGACC others(275): Show GGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTG GTGAGGAGACCAGCCTGGGGGAGGAGACCAGCCTTGTGGGGGAGACCAGC CTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACC AGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCTTGCGGGGGAGA CCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGG AGACCAGCCTGGTGAGGAGACCAGCCTGGGGGA	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG03492.hp1 HG03831.hp2 HG04228.hp2 others(1): Show HG03492.hp1 HG03831.hp2 HG04228.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0020 a0001c0001t0019 a0001c0001t0020	a0001c0001t0019g0060 a0001c0001t0019g0062 a0001c0001t0020g0061 others(1): Show a0001c0001t0019g0060 a0001c0001t0019g0062 a0001c0001t0020g0061 a0001c0001t0020g0063	4	251	0.0159	-282	c.-95 others(12): Show c.-958-43_-720del	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5	720		chr21	TogoVar

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Search Results (Total: 10000 hits)