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
TBCD_chr17_82747065_82950914	82925903	TGGCCGTG others(283): Show TGGCCGTGGAGAGGCTGGAGGTGACCTCTCCCCGGGTGTCCTTCCTGGGT TGTACTGGGGGCCGTGGAGAGGCTGGAGGTGACCTCTCCCCGGGTGTCCT TCCTGGGTTGTACTGGGGGCCGTGGAGAGGCTGGAGGTGACCTCTCCCCG GGTGTCCTTCCTGGGTTGTACTGGGGGCCGTGGAGAGGCTGGAGGTGACC TCTCCCCGGGTGTCCTTCCTGGGTTGTACCGGGGGCCGTGGAGAGGCTGG AGGTGACTCCTCCCCGGGTGTCCTTCCTGGGTTGTACTGGG	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	318	0.0031	-290	c.238 others(17): Show c.2380-442_2380-153del	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	27/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TUBGCP2_chr10_133273635_133313872	133291354	TCCGTGTC others(283): Show TCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCT GTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTG TCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGG GAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCG TGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGG GCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02071.hp1 HG02071.hp2 others(2): Show HG00642.hp1 HG02071.hp1 HG02071.hp2 HG03942.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0153 a0001c0001t0001g0184 others(2): Show a0001c0001t0001g0127 a0001c0001t0001g0153 a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0001g0204	5	284	0.0176	-290	c.121 others(18): Show c.1214+855_1214+1144del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239288	TCTGCCTC others(282): Show TCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCCCT GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0095 a0002c0002t0004g0095	1	106	0.0094	-289	c.136 others(19): Show c.1361+2554_1361+2842del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ASAP1_chr8_130047104_130448674	130049889	GGGGGCAG others(282): Show GGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAG AGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGG CAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAG AACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATG GGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0133 a0002c0002t0016g0133	1	308	0.0033	-289	c.45 others(11): Show c.4553_*4841del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2214		chr8	TogoVar
CBLC_chr19_44772890_44805652	44801686	GCAGCCCC others(282): Show GCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTCCAGCCCCTCCTCC CTCAGACCCAGGAGTCCATACTGCAGCCCCTCCTCCCTCAGACCCAGGAG TCCATACTGCAGCCCCTCCTTCCTCAGACCCAGTAGTCCATACTGCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGA CCTAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGA CCCCCAACCCCTTCTCCCTCAGACCCAGGAGTCCAGGCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0050 a0001c0008t0001g0050	1	344	0.0029	-289	c.11 others(11): Show c.1144_*1432del	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding		1035		chr19	TogoVar
CLIC4_chr1_24740447_24849321	24799922	GGGTCAGC others(282): Show GGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCA GCTGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	344	0.0029	-289	c.182 others(17): Show c.182+2074_182+2362del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DHRS12_chr13_51762993_51809163	51774546	AGTATTCT others(282): Show AGTATTCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGTATTCTC CTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTC CTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCT ACAGTATTCTACTACATGTATTCTCCTACAGTACATGTATTCTCCTACAG TATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTA CAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	420	0.0024	-289	c.364 others(15): Show c.364-801_364-513del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
ELAPOR2_chr7_86871906_87064654	86986153	TAGAAAAC others(282): Show TAGAAAACCCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00597.hp1 others(104): Show HG00099.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02109.hp2 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0002 a0003c0005 a0004c0006 a0005c0011 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0011 a0001c0004t0003 a0001c0008t0001 a0002c0002t0001 a0003c0005t0001 a0003c0005t0015 a0004c0006t0001 a0005c0011t0001 a0008c0010t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(104): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0075 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0102 a0001c0001t0002g0151 a0001c0001t0003g0178 a0001c0001t0005g0138 a0001c0001t0006g0034 a0001c0001t0006g0064 a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0009g0063 a0001c0001t0012g0104 a0001c0001t0016g0024 a0001c0003t0001g0076 a0001c0003t0001g0091 a0001c0003t0004g0006 a0001c0003t0004g0087 a0001c0003t0004g0090 a0001c0003t0004g0094 a0001c0003t0004g0137 a0001c0003t0007g0154 a0001c0003t0007g0182 a0001c0003t0011g0100 a0001c0004t0003g0025 a0001c0004t0003g0026 a0001c0004t0003g0028 a0001c0004t0003g0029 a0001c0004t0003g0030 a0001c0008t0001g0043 a0002c0002t0001g0015 a0002c0002t0001g0023 a0003c0005t0001g0077 a0003c0005t0001g0078 a0003c0005t0001g0079 a0003c0005t0001g0080 a0003c0005t0001g0083 a0003c0005t0001g0136 a0003c0005t0015g0085 a0004c0006t0001g0191 a0004c0006t0001g0192 a0004c0006t0001g0193 a0004c0006t0001g0194 a0004c0006t0001g0195 a0004c0006t0001g0196 a0005c0011t0001g0177 a0008c0010t0004g0176	107	196	0.5459	-289	c.190 others(19): Show c.190-21418_190-21130del	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	1/21			chr7	TogoVar
FARSB_chr2_222561899_222661092	222616971	CAGAAAGA others(282): Show CAGAAAGATTGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(255): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp1 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0007 a0002c0002 others(3): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0007t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0009 a0002c0002t0024 a0002c0002t0028 a0003c0003t0004 a0004c0005t0001 a0005c0006t0035	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(236): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0183 a0001c0001t0001g0266 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0038 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0005g0306 a0001c0001t0005g0307 a0001c0001t0005g0308 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0007g0037 a0001c0001t0007g0087 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0138 a0001c0001t0007g0139 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0008g0072 a0001c0001t0008g0284 a0001c0001t0008g0286 a0001c0001t0008g0287 a0001c0001t0008g0290 a0001c0001t0008g0291 a0001c0001t0008g0293 a0001c0001t0010g0021 a0001c0001t0010g0304 a0001c0001t0010g0305 a0001c0001t0011g0300 a0001c0001t0011g0301 a0001c0001t0011g0302 a0001c0001t0011g0303 a0001c0001t0012g0036 a0001c0001t0012g0062 a0001c0001t0012g0063 a0001c0001t0013g0285 a0001c0001t0013g0292 a0001c0001t0014g0288 a0001c0001t0014g0289 a0001c0001t0015g0042 a0001c0001t0015g0066 a0001c0001t0016g0184 a0001c0001t0016g0185 a0001c0001t0020g0020 a0001c0001t0021g0039 a0001c0001t0022g0040 a0001c0001t0023g0071 a0001c0001t0030g0131 a0001c0001t0031g0136 a0001c0001t0032g0142 a0001c0001t0033g0137 a0001c0001t0034g0163 a0001c0007t0002g0144 a0002c0002t0004g0012 a0002c0002t0004g0013 a0002c0002t0004g0014 a0002c0002t0004g0161 a0002c0002t0004g0162 a0002c0002t0004g0172 a0002c0002t0004g0187 a0002c0002t0004g0188 a0002c0002t0004g0189 a0002c0002t0004g0190 a0002c0002t0004g0191 a0002c0002t0004g0192 a0002c0002t0004g0193 a0002c0002t0004g0194 a0002c0002t0004g0195 a0002c0002t0004g0196 a0002c0002t0004g0197 a0002c0002t0004g0198 a0002c0002t0004g0199 a0002c0002t0004g0200 a0002c0002t0004g0201 a0002c0002t0004g0202 a0002c0002t0004g0203 a0002c0002t0004g0204 a0002c0002t0004g0205 a0002c0002t0004g0206 a0002c0002t0004g0207 a0002c0002t0004g0209 a0002c0002t0004g0210 a0002c0002t0004g0211 a0002c0002t0004g0283 a0002c0002t0006g0010 a0002c0002t0006g0170 a0002c0002t0006g0173 a0002c0002t0006g0174 a0002c0002t0006g0175 a0002c0002t0006g0177 a0002c0002t0006g0179 a0002c0002t0006g0181 a0002c0002t0006g0186 a0002c0002t0006g0212 a0002c0002t0006g0213 a0002c0002t0006g0297 a0002c0002t0006g0298 a0002c0002t0009g0011 a0002c0002t0009g0171 a0002c0002t0009g0176 a0002c0002t0009g0178 a0002c0002t0024g0180 a0002c0002t0028g0208 a0003c0003t0004g0160 a0004c0005t0001g0133 a0005c0006t0035g0299	258	344	0.7500	-289	c.134 others(19): Show c.1344+2385_1344+2673del	FARSB	ENSG00000116120.11	transcript	ENST00000281828.8	protein_coding	14/16			chr2	TogoVar
FOXN3_chr14_89151177_89422233	89361266	ACCACCAC others(282): Show ACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCAC CTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCA CCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACC ACCACCTCCACCACCACCTCCTACCACTACCACCTCCAGCACCACCTCCA CCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACC TCCACCACCACCTCCACCACCACCACCTCCAGCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0076 a0001c0001t0063g0076	1	230	0.0044	-289	c.544 others(19): Show c.544-10747_544-10459del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361380	TCCACCAC others(282): Show TCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCACCAC CACCTCCTACCACTACCACCTCCAGCACCACCTCCACCACCACCACCTCC AGCACCACCTCCACCACCACCTCCACCACTACCACCTCCACCACCACCTC CACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCT CCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCACCACC ACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0167 a0001c0001t0087g0167	1	230	0.0044	-289	c.544 others(19): Show c.544-10861_544-10573del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GALNT9_chr12_132191372_132334589	132231059	TCCCTAGT others(282): Show TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCC CCTACTGCCACACACTCCATGGGGCGACAGAGGAGACAGCGTGGAGCCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCCT ACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0006 a0001c0039t0006	a0001c0039t0006g0001 a0001c0039t0006g0001	1	183	0.0055	-289	c.107 others(21): Show c.1077+16562_1077+16850del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GEMIN6_chr2_38773210_38790002	38780512	GTATTTTT others(282): Show GTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGACGGTCTCCA TTTCCTGACCTTGCAATCCACCCACCTGACCTCCCAAAGTGTTGGGGTTA TAGGCGTGAGCCACCTCACCTGACCTTTTTTTTTTGAGATGGAGCCTTGC TCTGTTGCCCAGGCTGGAGTTCAATGGCTCGATCTCGGCTCACTGCAACC TCTGCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCTAAGTAGCT GGGATTATAGACATGTGCTACCACACCCGGCTAATTTTTA	G G	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0068	1	412	0.0024	-289	c.129 others(15): Show c.129-972_129-684del	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
H3-5_chr12_31786185_31797298	31790586	TGATTCTT others(282): Show TGATTCTTTTCCTCTCTTTTTTTTTTTTTGGATAAACAAGTTTATTTGTA AATTTAGTCAACATACATAATTGACCTAAAAACTTCAATAAGATAAATTT TAAAACCACTTGGAAGGCCATCTCTATAAAAATGATTTTCCCAGGACAGT AACCAGATGTAACCTAACCTAACACCATCTTAACCGGCAGAGGTTCAGTG GGCTAGAGCTTTGTGCTCCTCCCCTACACCAAGTTTTTATAATACAAATG CCACAAGAAAAAGAACTTCAGTACTGTTTCCTCTTAGCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18967.hp2 NA18979.hp2 others(4): Show NA18939.hp1 NA18967.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18993.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	444	0.0158	-289	c.88 others(10): Show c.884_*1172del	H3-5	ENSG00000188375.5	transcript	ENST00000340398.5	protein_coding		598		chr12	TogoVar
ITGB5_chr3_124756948_124892365	124789445	CCGCCTCT others(282): Show CCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGT TATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTA GACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCC TCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCA GAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAG GGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAA	C C	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0293 a0001c0002t0003g0293	1	352	0.0028	-289	c.169 others(19): Show c.1693+6654_1693+6942del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
LRBA_chr4_150259435_151020284	150420387	GTATATAT others(282): Show GTATATATAAAGTATATATAATACACATTATAGTATATATAAAGTATATA TAATACATATATAATATATAAAGTATATATAATACACATTATAATATATA TAAAGTATATATAATACACATTATAATATATATAAAGTATATATAATACA CATTATAATATATATAAAGTATATATAATACACATTATAATATATATAAA GTATATATAATACACATTATAATATATATAAAGTATATATAATACACATT ATAATATATATAAAGTATATATAATACACATTATAATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03209.hp2 HG03453.hp2 others(5): Show HG00735.hp2 HG03209.hp2 HG03453.hp2 HG03831.hp2 NA18522.hp2 NA18978.hp1 NA19007.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0085 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0085 a0001c0001t0001g0100 a0001c0001t0002g0049 a0001c0001t0003g0052 a0001c0001t0006g0001 a0001c0001t0006g0002	8	180	0.0444	-289	c.704 others(19): Show c.7042-5086_7042-4798del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150420419	GTATATAT others(282): Show GTATATATAAAGTATATATAATACATATATAATATATAAAGTATATATAA TACACATTATAATATATATAAAGTATATATAATACACATTATAATATATA TAAAGTATATATAATACACATTATAATATATATAAAGTATATATAATACA CATTATAATATATATAAAGTATATATAATACACATTATAATATATATAAA GTATATATAATACACATTATAATATATATAAAGTATATATAATACACATT ATAATATATATAAAGTATATATAATACACATTATAATATA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	180	0.0056	-289	c.704 others(19): Show c.7042-5118_7042-4830del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56			chr4	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(282): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	350	0.0029	-289	c.28 others(11): Show c.2875_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
MLPH_chr2_237482251_237560322	237544874	GGGGACAG others(282): Show GGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGT GGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGAG TGGGGGCACAGTGGTGAGTGGGGACAGTGGGTGGAGGGGGCACTATTGGT AGGGGGGACAATTATTGGGGGGGGGCACTAATTGTGAGGGGGGACCAGTG TTGAGTGGGGGAATAGTTATGAGTGGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	286	0.0035	-289	c.154 others(19): Show c.1540-1728_1540-1440del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2085527	TGTGATCT others(282): Show TGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGT TGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCA CTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCC CCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTG GCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp1 HG02155.hp1 others(14): Show HG00597.hp1 HG02056.hp1 HG02155.hp1 HG02165.hp1 HG04115.hp1 NA18522.hp1 NA18941.hp2 NA18942.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18969.hp1 NA18969.hp2 NA19012.hp2 NA19068.hp1 NA19074.hp1	a0001 a0002 a0005 others(7): Show a0001 a0002 a0005 a0006 a0007 a0008 a0017 a0022 a0023 a0031	a0001c0002 a0002c0042 a0002c0086 others(8): Show a0001c0002 a0002c0042 a0002c0086 a0005c0005 a0006c0201 a0007c0010 a0008c0008 a0017c0173 a0022c0043 a0023c0021 a0031c0050	a0001c0002t0001 a0001c0002t0003 a0002c0042t0001 others(9): Show a0001c0002t0001 a0001c0002t0003 a0002c0042t0001 a0002c0086t0006 a0005c0005t0004 a0006c0201t0005 a0007c0010t0001 a0008c0008t0001 a0017c0173t0002 a0022c0043t0001 a0023c0021t0001 a0031c0050t0001	a0001c0002t0001g0220 a0001c0002t0001g0303 a0001c0002t0003g0308 others(14): Show a0001c0002t0001g0220 a0001c0002t0001g0303 a0001c0002t0003g0308 a0002c0042t0001g0315 a0002c0086t0006g0190 a0005c0005t0004g0281 a0005c0005t0004g0287 a0006c0201t0005g0168 a0007c0010t0001g0102 a0008c0008t0001g0177 a0017c0173t0002g0024 a0022c0043t0001g0239 a0022c0043t0001g0382 a0023c0021t0001g0223 a0023c0021t0001g0354 a0031c0050t0001g0103 a0031c0050t0001g0347	17	403	0.0422	-289	c.164 others(17): Show c.1644+163_1644+451del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085553	ATGATCTC others(282): Show ATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTC GTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCAC TGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCC ACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCC CCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGT GGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0278 a0001c0009t0002g0278	1	403	0.0025	-289	c.164 others(17): Show c.1644+172_1644+460del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKD2_chr5_1003802_1043943	1022624	TGTGGGCG others(282): Show TGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCC TTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCTTTGTCCCT GCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTA GTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp1 HG03540.hp2 HG02257.hp1 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0088	3	319	0.0094	-289	c.142 others(17): Show c.142-9527_142-9239del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NRP1_chr10_33172493_33339667	33203712	TCAAAGAC others(282): Show TCAAAGACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCTGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(90): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG03239.hp1 HG03486.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04228.hp2 NA18522.hp1 NA18945.hp1 NA18945.hp2 NA18955.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18972.hp1 NA18977.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp2 NA19001.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0002 a0001c0003 a0001c0005 others(16): Show a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0017 a0001c0023 a0001c0025 a0001c0026 a0001c0035 a0002c0004 a0002c0020 a0002c0029 a0002c0037 a0002c0041 a0003c0018 a0003c0022 a0004c0038 a0007c0036	a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 others(33): Show a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0003t0009 a0001c0003t0015 a0001c0003t0019 a0001c0003t0024 a0001c0003t0030 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0009 a0001c0005t0015 a0001c0005t0022 a0001c0008t0003 a0001c0009t0001 a0001c0009t0009 a0001c0017t0001 a0001c0023t0010 a0001c0025t0001 a0001c0026t0003 a0001c0035t0009 a0002c0004t0002 a0002c0004t0032 a0002c0020t0002 a0002c0029t0002 a0002c0037t0002 a0002c0041t0002 a0003c0018t0004 a0003c0018t0005 a0003c0022t0004 a0003c0022t0007 a0004c0038t0002 a0007c0036t0002	a0001c0002t0003g0023 a0001c0003t0001g0067 a0001c0003t0002g0113 others(90): Show a0001c0002t0003g0023 a0001c0003t0001g0067 a0001c0003t0002g0113 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0038 a0001c0003t0003g0042 a0001c0003t0003g0071 a0001c0003t0003g0099 a0001c0003t0003g0103 a0001c0003t0003g0107 a0001c0003t0003g0117 a0001c0003t0003g0121 a0001c0003t0003g0152 a0001c0003t0003g0188 a0001c0003t0003g0210 a0001c0003t0007g0006 a0001c0003t0007g0007 a0001c0003t0007g0012 a0001c0003t0009g0163 a0001c0003t0015g0030 a0001c0003t0019g0005 a0001c0003t0024g0224 a0001c0003t0030g0260 a0001c0005t0001g0070 a0001c0005t0001g0072 a0001c0005t0003g0014 a0001c0005t0003g0021 a0001c0005t0003g0022 a0001c0005t0003g0029 a0001c0005t0003g0032 a0001c0005t0003g0033 a0001c0005t0003g0034 a0001c0005t0003g0035 a0001c0005t0003g0076 a0001c0005t0003g0088 a0001c0005t0003g0136 a0001c0005t0003g0173 a0001c0005t0004g0119 a0001c0005t0009g0172 a0001c0005t0015g0098 a0001c0005t0022g0139 a0001c0008t0003g0228 a0001c0008t0003g0240 a0001c0008t0003g0242 a0001c0008t0003g0254 a0001c0008t0003g0256 a0001c0008t0003g0257 a0001c0009t0001g0180 a0001c0009t0009g0127 a0001c0017t0001g0246 a0001c0017t0001g0248 a0001c0017t0001g0250 a0001c0017t0001g0251 a0001c0023t0010g0016 a0001c0023t0010g0017 a0001c0025t0001g0231 a0001c0026t0003g0241 a0001c0026t0003g0252 a0001c0035t0009g0126 a0002c0004t0002g0028 a0002c0004t0002g0041 a0002c0004t0002g0079 a0002c0004t0002g0081 a0002c0004t0002g0082 a0002c0004t0002g0083 a0002c0004t0002g0096 a0002c0004t0002g0102 a0002c0004t0002g0106 a0002c0004t0002g0120 a0002c0004t0002g0138 a0002c0004t0002g0146 a0002c0004t0002g0147 a0002c0004t0002g0148 a0002c0004t0002g0153 a0002c0004t0002g0154 a0002c0004t0002g0204 a0002c0004t0002g0212 a0002c0004t0002g0223 a0002c0004t0032g0262 a0002c0020t0002g0236 a0002c0020t0002g0237 a0002c0020t0002g0239 a0002c0029t0002g0155 a0002c0037t0002g0112 a0002c0041t0002g0247 a0003c0018t0004g0044 a0003c0018t0005g0059 a0003c0018t0005g0192 a0003c0022t0004g0018 a0003c0022t0007g0002 a0004c0038t0002g0095 a0007c0036t0002g0100	93	262	0.3550	-289	c.176 others(18): Show c.1760-1006_1760-718del	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	10/16			chr10	TogoVar
OPCML_chr11_132409981_133537501	132688690	TAAAAATA others(282): Show TAAAAATAGATTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAAAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01109.hp2 others(38): Show HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0042 a0001c0001t0003g0024 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0050 a0001c0001t0004g0007 a0001c0001t0004g0018 a0001c0001t0005g0025 a0001c0001t0005g0038 a0001c0001t0006g0006 a0001c0001t0006g0037 a0001c0001t0007g0029 a0001c0001t0007g0040 a0001c0001t0009g0064 a0001c0001t0010g0061 a0001c0001t0011g0056 a0001c0001t0012g0063 a0001c0001t0012g0068 a0001c0001t0013g0041 a0001c0001t0015g0043 a0001c0001t0018g0008 a0001c0001t0019g0051 a0001c0001t0020g0033 a0001c0001t0021g0036 a0001c0001t0022g0014 a0001c0001t0023g0039 a0001c0001t0024g0021 a0001c0001t0025g0054 a0001c0001t0030g0067 a0001c0001t0031g0062 a0001c0001t0032g0065	41	68	0.6029	-289	c.147 others(19): Show c.147-31660_147-31372del	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	2/7			chr11	TogoVar
PPP6R2_chr22_50338327_50450090	50346072	AGTCAGTG others(282): Show AGTCAGTGCCCCCTCCAGTCAGTTCCCCCAGTCAGTTGCCCCCCAGTCAG TGCCCCCCAAGTCAGTCAGTTCCCCCTCCAGTCAGTTCCCCCAGTCAGTC AGTGCCCCCCAGTCAGTGCCCCCCCCAAGTCAGTCACTGTCCCCTCCAGT CAGTGCCCCTCCAGTAAGTTCTCCCCAGTCAGTGCATCCCCTAGTCAGTT CCCCCCAGTCAGTGCCCCCTTCAGTGTCCCCCAGTCAGTTCCCCTCAGTC AGTGCCCCCCCAGTCAGTTCCCCCCGCAATCAGTTCCCCC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0119 a0001c0003t0002g0119	1	340	0.0029	-289	c.-14 others(19): Show c.-148+2545_-148+2833del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM15_chr21_41793225_41884344	41805997	CCACCACC others(282): Show CCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCATC ACCACCACCACCATCACCATCACCACCACCATCACCACCACCACCATCAC CACCACCATCACCACCACCACCACCACCATCACCACCACCATCACCACCA CCACCACCATCACCATCACCACCACCATCACCACCACCACCATCACCACC ACCACCATCACCATCACCATCACCATCACCACCATCACTACCACCATCAC CACCACCACCATCACCACCACCCATCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02135.hp2 HG04115.hp1 others(6): Show HG02056.hp1 HG02135.hp2 HG04115.hp1 NA18952.hp1 NA18960.hp1 NA18983.hp2 NA19000.hp1 NA19067.hp2 NA19082.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0127 a0001c0005t0007g0172 a0001c0005t0007g0283 others(6): Show a0001c0005t0007g0127 a0001c0005t0007g0172 a0001c0005t0007g0283 a0001c0005t0007g0284 a0001c0005t0007g0285 a0001c0005t0007g0393 a0001c0005t0007g0394 a0001c0005t0007g0395 a0001c0005t0007g0396	9	406	0.0222	-289	c.265 others(19): Show c.2653-1672_2653-1384del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41806123	CCATCACC others(282): Show CCATCACCACCACCATCACCACCACCACCACCATCACCATCACCACCACC ATCACCACCACCACCATCACCACCACCACCATCACCATCACCATCACCAT CACCACCATCACTACCACCATCACCACCACCACCATCACCACCACCCATC ACCACCACCACCATCACCATCACCACCACCATCACCACCACCACCATCAC CACCACCACCATCACCATCACCACCACCATCACCACCACCACCATCACTA CCACCATCACCACCACCACCATCACCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02040.hp1 HG01081.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0020 a0001c0002t0002 a0001c0003t0020	a0001c0002t0002g0305 a0001c0003t0020g0361 a0001c0002t0002g0305 a0001c0003t0020g0361	2	406	0.0049	-289	c.265 others(19): Show c.2653-1798_2653-1510del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
RRP12_chr10_97351701_97406340	97398064	TTGAGATG others(282): Show TTGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02300.hp2 HG02615.hp2 HG01358.hp1 HG02300.hp2 HG02615.hp2	a0001 a0003 a0001 a0003	a0001c0011 a0003c0002 a0001c0011 a0003c0002	a0001c0011t0001 a0003c0002t0001 a0001c0011t0001 a0003c0002t0001	a0001c0011t0001g0203 a0001c0011t0001g0209 a0003c0002t0001g0269 a0001c0011t0001g0203 a0001c0011t0001g0209 a0003c0002t0001g0269	3	400	0.0075	-289	c.369 others(17): Show c.369+1952_370-1764del	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
SDHA_chr5_213320_262082	261542	GCCTCCCG others(282): Show GCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCT CCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCG GCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTG AGCTCCGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	266	0.0038	-289	c.51 others(11): Show c.5123_*5411del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4461		chr5	TogoVar
SDHA_chr5_213320_262082	261649	GAGCATTA others(282): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGC ATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCG CCCCCCGACAGAGCATTACCGTGTGAGCTCCGCCCTCCCGTCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCT CCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18982.hp2 NA18989.hp2 others(2): Show NA18943.hp2 NA18982.hp2 NA18989.hp2 NA19004.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0019 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0036 a0001c0001t0002g0086	5	266	0.0188	-289	c.52 others(11): Show c.5230_*5518del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4568		chr5	TogoVar
SDHA_chr5_213320_262082	261745	GAGCATTA others(282): Show GAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGC TCCGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGCCCTCCCGTCAGAG CATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCC GCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATT ACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCT CCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0055 a0001c0001t0007g0055	1	266	0.0038	-289	c.53 others(11): Show c.5326_*5614del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4664		chr5	TogoVar
SIPA1L2_chr1_232392965_232635133	232563993	GTGTGATG others(282): Show GTGTGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGA TCTTGGCTCGCTGCAACTTCTTACAGGCATCAGCCACTGCTCCTGGCCAA GGAAGGTTTCATCATGTTGGCCAGACTGAACGACGAAGGTTGTTTTTTTT TTTTTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTC ATCATGTTGGCCAGACTGAACGACAAAGGTTTTTTTTTTTTTCGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0088 a0002c0008t0004g0088	1	292	0.0034	-289	c.-27 others(20): Show c.-270+9892_-270+10180del	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1070143	CCCCCAGC others(282): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGT GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGC CCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0028 a0001c0006t0001g0028	1	118	0.0085	-289	c.224 others(19): Show c.2241+3201_2241+3489del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SNTB2_chr16_69182164_69314052	69292381	ATATATAT others(282): Show ATATATATATTATATATATATATATATTATATATATATTATATATATATA TATATTATATATATATAATTTTTTTTTTGAGACAGAGTTTTGCTCTTGTT GCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCCGCC TCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATT ACAGGTGCCCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTTGCATTT TTAGTAGAGGCGGGGTTTCACCCTGTTGGCCAGGCTGGTC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03225.hp1 HG03041.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0074 a0001c0002t0021g0075 a0001c0002t0021g0074 a0001c0002t0021g0075	2	218	0.0092	-289	c.134 others(19): Show c.1346-7207_1346-6919del	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
TAFA4_chr3_68726766_68937547	68821323	CTGCTTTT others(282): Show CTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGGCTCCACCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(219): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0001 a0002c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(218): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0282 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0314 a0001c0001t0002g0001 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0233 a0001c0001t0002g0281 a0001c0001t0003g0036 a0001c0001t0003g0182 a0001c0001t0003g0222 a0001c0001t0003g0269 a0001c0001t0004g0032 a0001c0001t0004g0123 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0177 a0001c0001t0004g0189 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0096 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0134 a0001c0001t0006g0214 a0001c0001t0007g0011 a0001c0001t0007g0013 a0001c0001t0007g0197 a0001c0001t0007g0304 a0001c0001t0007g0309 a0001c0001t0007g0312 a0001c0001t0008g0190 a0001c0001t0008g0223 a0001c0001t0008g0224 a0001c0001t0008g0271 a0001c0001t0008g0294 a0001c0001t0009g0052 a0001c0001t0009g0172 a0001c0001t0009g0173 a0001c0001t0009g0219 a0001c0001t0009g0240 a0001c0001t0009g0246 a0001c0001t0010g0012 a0001c0001t0010g0289 a0001c0001t0010g0290 a0001c0001t0012g0027 a0001c0001t0012g0028 a0001c0001t0013g0287 a0001c0001t0014g0015 a0001c0001t0014g0016 a0001c0001t0015g0002 a0001c0001t0016g0050 a0001c0001t0017g0023 a0001c0001t0018g0049 a0001c0001t0019g0231 a0001c0001t0020g0207 a0001c0001t0021g0183 a0001c0001t0025g0020 a0001c0001t0026g0283 a0001c0001t0027g0291 a0001c0001t0028g0209 a0001c0001t0029g0128 a0001c0001t0030g0313 a0001c0001t0031g0194 a0001c0001t0032g0315 a0001c0002t0001g0124 a0001c0002t0001g0228 a0001c0002t0001g0251 a0002c0003t0002g0186	222	316	0.7025	-289	c.130 others(19): Show c.130+59118_130+59406del	TAFA4	ENSG00000163377.16	transcript	ENST00000295569.12	protein_coding	3/5			chr3	TogoVar
TPPP_chr5_654862_698352	667822	AGACAAGC others(282): Show AGACAAGCACACGGAGAGGGGTCCGCGTGGGCGCCGTCAGGGAAGTACCG ACAAGCACACAGAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGAC AAGCACACAGAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTGCGGACAA GCACACAGAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAAGC ACACAGAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAAGCAC ACTGGAGAGGGGTCCGCGTGGGCCCCATCAGGGAAGTACC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01884.hp1 others(26): Show HG00280.hp2 HG00738.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp2 HG02055.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03927.hp2 NA18906.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 a0001c0001 a0001c0006 a0001c0011	a0001c0001t0004 a0001c0001t0013 a0001c0001t0031 others(8): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0031 a0001c0001t0055 a0001c0001t0056 a0001c0001t0074 a0001c0001t0093 a0001c0006t0004 a0001c0006t0018 a0001c0006t0057 a0001c0011t0004	a0001c0001t0004g0030 a0001c0001t0004g0318 a0001c0001t0004g0319 others(24): Show a0001c0001t0004g0030 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0323 a0001c0001t0004g0326 a0001c0001t0004g0336 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0013g0053 a0001c0001t0031g0355 a0001c0001t0031g0356 a0001c0001t0055g0328 a0001c0001t0056g0329 a0001c0001t0074g0322 a0001c0001t0093g0351 a0001c0006t0004g0029 a0001c0006t0004g0339 a0001c0006t0004g0340 a0001c0006t0004g0341 a0001c0006t0004g0343 a0001c0006t0004g0344 a0001c0006t0004g0349 a0001c0006t0018g0342 a0001c0006t0057g0350 a0001c0011t0004g0330	29	409	0.0709	-289	c.312 others(17): Show c.312-1988_312-1700del	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3			chr5	TogoVar
AFDN_chr6_167821911_167977023	167940878	CATATGGA others(281): Show CATATGGACAGACACAGAGAGATGTAGGGGTGAGGGTGGAAACCATCCAC AGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAA CCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGATGAG GGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTA GGGATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAGACACAGAGG GATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0001 a0013c0027t0001	a0013c0027t0001g0209 a0013c0027t0001g0209	1	326	0.0031	-288	c.310 others(19): Show c.3100-2250_3100-1963del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33			chr6	TogoVar
AGAP6_chr10_49983406_50015499	50011328	AGACTCCA others(281): Show AGACTCCATCTCAAAAAAAAAAATTAGCTGGGCATGGTGGCGGGCACCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACTCAGG AGGCAAAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGG CAACAGAGCGAGACTCGGTCTCAAAGAAAAGAAAAAGAGGGTTACAGATC ACTGCACATGGAAAATATTCCCAGCAGTAAACACTTCCATTAATGTGATC TACAGCTTTTAAAAAGGAGCATCTCAGAATAAGATGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	406	0.0025	-288	c.11 others(11): Show c.1143_*1430del	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding		830		chr10	TogoVar
ARID3A_chr19_921035_980939	930109	AAAAAATT others(281): Show AAAAAATTAGCCAGGCATGGTGGTGCACCTGTGGTCCCAGCTACTGGGGA GGCTGAGGCAGGAGGATCCCTTGAGAACAGAAGTTGAGTTGTGATTGTGC CACTGCACTCCAGCCTGGATGACAGAGATAGACCCAGTCTCAAAAGAAAA ATGGTTTTTTTAGCCGGGTGCTGTGGCTTACGCCCGTAATCCCAGCACTT TGGGAGGTCGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCAAGACCAGC CCGGCCAACATGGCGAAACCCCATCTCTACTAAAAATAC	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0021 a0002c0008t0021	a0002c0008t0021g0298 a0002c0008t0021g0298	1	364	0.0028	-288	c.368 others(15): Show c.368+229_368+516del	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATP9B_chr18_79064394_79383283	79146004	GAGTGACT others(281): Show GAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGA GTGACTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCAGTGTGCAGAGT GACTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGA CTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACT GAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGA AGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	-288	c.726 others(17): Show c.726+2208_726+2495del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BRSK2_chr11_1384934_1467689	1412178	CGGTGGGT others(281): Show CGGTGGGTGGAGTCTGAGCTGCGCCGCCCCGTCCTGCGGTGGGTGGAGTC TCAGCTGCGCCGCCCCGTCCTGCGGTGGGTGGAGTCTCAGCTGCGCCGCC CCGTCCTGCGGTGGGTGGAGTCTCAGCTGCGCCGCCCCGTCCTGCGGTGG GTGGAGTCTCAGCTGCGCCGCCCCGTCCTGCGGTGGGTGGAGTCTCAGCT GCGCCGCCCCGTCCTGCGGTGGGTGGAGTCTGAGCTGCGCTGCCCCGTCC TGCGGTGGGTGGAGTCTCAGCTGCGCCGCCCCGTCCTGT	C C	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	360	0.0028	-288	c.91+ others(17): Show c.91+21818_91+22105del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CANT1_chr17_78986716_79014764	79004827	GGGGAGTT others(281): Show GGGGAGTTAGGGAGAGGGGATTTAGGGAGGGGGGAGTTAGGGAGAGGAGT TAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGCTGGGGGG GAGTTATGGAGCAAGGAGTTAGGGAGGGGGGAGTTAGGGAGATGGGAGTT AGGGAGAGGGGGGTTAGGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGA AGGGAGTTAGGGAGAGGGGAGCTAGGGAGAGGGGGGTTAGGGAAGGGGGA GTTAGGGAGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG03516.hp1 HG02922.hp2 HG02965.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	3	394	0.0076	-288	c.-14 others(19): Show c.-147+4549_-147+4836del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CBFA2T3_chr16_88869858_88982207	88929747	TACCAATA others(281): Show TACCAATACCCACAGCTGCATGGTCCACGCAAAAGCTACCAATACCCACA GCTGCATGGTCCACACAAAAGCTACCAATACCCACAGCTGCATCATCCAC GCAAAAGCTACCCATGCCCACAGCTGCATCATCCACGCAAAAGTCACCAA TACCCACAGCTGCATCGTCCACGCAAAAGCTACCAATACCCACAGCTGCA TGGTCCACGTAAAAGCTACCAATACCCAGAGCCGCATGGTCCACGCAAAA GCTACCAATACCCACAGCTGCATCATCCACGCAAAAGTC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG02886.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0102 a0001c0002t0001g0104	2	284	0.0070	-288	c.152 others(19): Show c.152-28379_152-28092del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBLC_chr19_44772890_44805652	44800858	CCAGCCCC others(281): Show CCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTCCAGCCCCTCCTCC CTCAGACCCAGGAGTCCATACTGCAGCCCCTCCTTCCTCAGACCCAGGAG TCCATACTCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTGCAGCC CCTCCTCCCTCAGACCCAGGAGTCCATACTGCAGCCCCTCCTTCCTCAGA CCCAGGAATCCATACTGCAGCCCCTTCTCCCTCAGACCCAGGAGTCCAGG CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02071.hp1 HG02135.hp2 others(20): Show HG02056.hp1 HG02071.hp1 HG02135.hp2 HG02523.hp2 HG03486.hp1 HG03834.hp2 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18947.hp1 NA18950.hp2 NA18960.hp1 NA18970.hp1 NA18978.hp2 NA18985.hp1 NA18993.hp2 NA19001.hp2 NA19009.hp2 NA19056.hp2 NA19068.hp1 NA19088.hp2	a0000 a0001 a0000 a0001	a0000c0002 a0001c0001 a0000c0002 a0001c0001	a0000c0002t0001 a0001c0001t0001 a0000c0002t0001 a0001c0001t0001	a0000c0002t0001g0012 a0000c0002t0001g0034 a0000c0002t0001g0037 others(19): Show a0000c0002t0001g0012 a0000c0002t0001g0034 a0000c0002t0001g0037 a0000c0002t0001g0044 a0000c0002t0001g0077 a0000c0002t0001g0127 a0000c0002t0001g0201 a0000c0002t0001g0217 a0000c0002t0001g0218 a0000c0002t0001g0256 a0001c0001t0001g0141 a0001c0001t0001g0167 a0001c0001t0001g0185 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0276	23	344	0.0669	-288	c.31 others(9): Show c.316_*603del	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding		207		chr19	TogoVar
CCDC73_chr11_32597721_32799662	32756135	CTATATAT others(281): Show CTATATATATATCTCCATATATATATCTATATATATATCTCCATATATAT ATCTATATATATATCTCCATATATATATCTATATATATATCTCCATATAT ATATCTATATATATATCTCCATATATATATCTATATATATATCTCCATAT ATATATCTATATATATATCTCCATATATATATCTATATATATATCTCCAT ATATATATCTATATATATATCTCCATATATATATCTATATATATATCTCC ATATATATATCTATATATATATCTCCATATATATATCTA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp1 HG03195.hp1 others(2): Show HG02970.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 others(2): Show a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256	5	312	0.0160	-288	c.135 others(17): Show c.135+3686_135+3973del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CDH4_chr20_61247261_61945617	61689173	GGTGATGT others(281): Show GGTGATGTGGAATCAGGCTGGGACAGTGGTTGGTGAGGTGATGTGGAATC GGGCTGGGACAGTGGTTGGTGAGGTGATGTGGAATTGGGCTGGGACAGTG GTTGGTGAGGTGATGTGGATTCCGGAGGGGACAGTGGTTGGTGAAGTGAT GTGGAATCAGGCTGGGACAGTGGTTGGTGAGGTGATGTGGAATCGGGCTG GGACAGTGGTTGGTGAGGTGATGTGGAATTGGGCTGGGACAGTGGTTGGT GAGGTGATGTGGATTCCGGCGGGGACAGTGGTTGGTGAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG03139.hp2 others(1): Show HG01243.hp1 HG02451.hp2 HG03139.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0009 a0001c0003t0001 a0001c0003t0017 others(1): Show a0001c0001t0009 a0001c0003t0001 a0001c0003t0017 a0002c0004t0003	a0001c0001t0009g0013 a0001c0003t0001g0020 a0001c0003t0017g0067 others(1): Show a0001c0001t0009g0013 a0001c0003t0001g0020 a0001c0003t0017g0067 a0002c0004t0003g0011	4	106	0.0377	-288	c.170 others(19): Show c.170-54265_170-53978del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDK12_chr17_39456486_39539544	39498920	TTTCTTTC others(281): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01106.hp1 others(10): Show HG01070.hp1 HG01071.hp2 HG01106.hp1 HG02055.hp1 HG02280.hp2 HG02647.hp1 HG02965.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp2 HG04204.hp1 NA19240.hp1 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0006c0008t0035	a0001c0001t0001g0146 a0001c0001t0001g0183 a0001c0001t0009g0087 others(10): Show a0001c0001t0001g0146 a0001c0001t0001g0183 a0001c0001t0009g0087 a0001c0001t0009g0088 a0001c0001t0011g0103 a0001c0001t0011g0104 a0001c0001t0014g0141 a0001c0001t0018g0086 a0001c0001t0022g0182 a0001c0001t0033g0096 a0001c0001t0037g0090 a0001c0001t0038g0089 a0006c0008t0035g0085	13	260	0.0500	-288	c.242 others(19): Show c.2420-2327_2420-2040del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
COL5A1_chr9_134636803_134849843	134849163	CAGATCAC others(281): Show CAGATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACAG GATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGAAGCACAGGA TCACACCTCCCAGGAAGCACGGGATCACACCTCCCAGGAACCACAATATC ACACCTCCCAGGAACCACGATATCACACCTCCCAGGAACCACGATATCAC ACCTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACGGGATCAGAC CTCCTGGGGAGCACGGGATCACACCTCCCAGGAAGCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA18994.hp1 NA19087.hp1 HG06807.hp1 NA18994.hp1 NA19087.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0013c0055 a0001c0001 a0001c0002 a0013c0055	a0001c0001t0006 a0001c0002t0006 a0013c0055t0007 a0001c0001t0006 a0001c0002t0006 a0013c0055t0007	a0001c0001t0006g0129 a0001c0002t0006g0250 a0013c0055t0007g0257 a0001c0001t0006g0129 a0001c0002t0006g0250 a0013c0055t0007g0257	3	272	0.0110	-288	c.68 others(11): Show c.6861_*7148del	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4321		chr9	TogoVar
DOC2B_chr17_137789_186650	167275	GTTCTTGA others(281): Show GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0041 a0001c0002t0029g0041	1	339	0.0030	-288	c.454 others(17): Show c.454-3359_454-3072del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DPEP1_chr16_89608642_89643433	89634604	CTCCTTTC others(281): Show CTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01192.hp1 others(1): Show HG00323.hp1 HG00642.hp1 HG01192.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0238 a0001c0001t0001g0243 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0244	4	250	0.0160	-288	c.105 others(17): Show c.105-1303_105-1016del	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar

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Search Results (Total: 10000 hits)