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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SORBS2_chr4_185580523_185817194	185796509	GCTGTGGC others(243): Show GCTGTGGCCACGCTGTTCCCTGGTCACGGTGGGGCTGGGCATGCCTGGGC GCTGTGGCCACGCTGTTCCCTGGTCACGGTGGGGCTGGGCATGCCTGGGC GCTGTGGCCACGCTGTTCCCTGGTCACGGTGGGGCTGGGCATGCCTGGGC TCTGTGGCCACGCTGTTCCCTGGTCACGGTGGGGCTGGGCATGCCTGGGC TCTGTGGCCACGCTGTTCCCTGGTCACGGTGGGGCTGGGCATGCCTGGGC T	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG06807.hp2 HG02109.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0071 a0001c0002t0034 a0001c0001t0071 a0001c0002t0034	a0001c0001t0071g0281 a0001c0002t0034g0004 a0001c0001t0071g0281 a0001c0002t0034g0004	2	312	0.0064	-250	c.-23 others(21): Show c.-237+14905_-237+15154del		SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26						chr4	TogoVar
TAOK1_chr17_29385363_29556903	29501630	AATTTTCT others(243): Show AATTTTCTGCTACTCCTATTTAAAACATTGACTATATTGGCTACATGTTT CATCAGCTTTGTTTTCAAGTTATGTTAAAGCTTTTCAATTTTGCATATAA TCGGTAGGATATAAATCTAGTCATGTGCCAGGCACAGTGACTCACGCATG TAATCCCAACATATTGGGAGGCCAAGGCAGGCAGATTGCTTGAGCCCAGT AGTTCAAGACCAGCCTGGGCAACATGGCAGAACCCCATCTCTACAAAAAA T	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02145.hp2 HG01081.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0126 a0001c0002t0005g0154 a0001c0002t0002g0126 a0001c0002t0005g0154	2	326	0.0061	-250	c.120 others(17): Show c.1204-957_1204-708del		TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	12/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
TFDP1_chr13_113579753_113646473	113583887	TAGTGCAC others(243): Show TAGTGCACACACCAGTCCCCGCTCCCTCACATGCACACACTAGTGCACAC ACCAGTCCCCGCTCCCTCACATGCACACACACGAGTGCACACACCAGTCC CCGCTCCCTCACATGCACACACACGAGTGCACACACCAGTCCCCGCTCCC TCACATGCACACACACGAGTGCACACACCAGTCCCCGCTCCCTCACATGC ACACACACGAGTGCACACACCAGTCCCCGCTCCCTCACATGCACACACAC G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	348	0.0029	-250	c.-10 others(10): Show c.-1065_-816del		TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding					865		chr13	TogoVar
TRIML1_chr4_188134441_188152743	188152294	GGGAGTGA others(243): Show GGGAGTGAGAGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGG GAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGG AGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGA GTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT GAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTG A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	228	0.0044	-250	c.49 others(11): Show c.4923_*5172del		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					4552		chr4	TogoVar
UMODL1_chr21_42066317_42147996	42078246	CGGGGCCA others(243): Show CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGG CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGG CCGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGG CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGG CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAGCCAGG T	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18960.hp1 NA18972.hp1 others(2): Show NA18950.hp1 NA18960.hp1 NA18972.hp1 NA18995.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0058 a0001c0001t0003g0059 others(1): Show a0001c0001t0003g0001 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0220	5	400	0.0125	-250	c.319 others(17): Show c.319+2088_319+2337del		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078335	CAGAAACC others(243): Show CAGAAACCAGGCCGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAGCCAGGTGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA T	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01070.hp2 HG01071.hp2 others(21): Show HG00609.hp1 HG01070.hp2 HG01071.hp2 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03540.hp2 NA18522.hp1 NA18951.hp2 NA18973.hp1 NA18974.hp2 NA19011.hp2 NA19043.hp1 NA19240.hp1	a0002 a0004 a0009 others(14): Show a0002 a0004 a0009 a0012 a0013 a0015 a0017 a0030 a0050 a0055 a0058 a0060 a0061 a0078 a0079 a0095 a0120	a0002c0005 a0004c0126 a0009c0027 others(15): Show a0002c0005 a0004c0126 a0009c0027 a0012c0054 a0013c0178 a0015c0010 a0017c0057 a0017c0158 a0030c0025 a0050c0154 a0055c0052 a0058c0166 a0060c0169 a0061c0167 a0078c0122 a0079c0120 a0095c0090 a0120c0165	a0002c0005t0001 a0002c0005t0003 a0002c0005t0039 others(17): Show a0002c0005t0001 a0002c0005t0003 a0002c0005t0039 a0004c0126t0002 a0009c0027t0001 a0012c0054t0022 a0013c0178t0001 a0015c0010t0002 a0017c0057t0001 a0017c0158t0001 a0030c0025t0013 a0050c0154t0001 a0055c0052t0001 a0058c0166t0001 a0060c0169t0003 a0061c0167t0001 a0078c0122t0040 a0079c0120t0001 a0095c0090t0016 a0120c0165t0001	a0002c0005t0001g0364 a0002c0005t0003g0384 a0002c0005t0039g0275 others(20): Show a0002c0005t0001g0364 a0002c0005t0003g0384 a0002c0005t0039g0275 a0004c0126t0002g0118 a0009c0027t0001g0113 a0012c0054t0022g0377 a0013c0178t0001g0029 a0015c0010t0002g0241 a0015c0010t0002g0268 a0017c0057t0001g0366 a0017c0057t0001g0386 a0017c0158t0001g0378 a0030c0025t0013g0005 a0050c0154t0001g0376 a0055c0052t0001g0385 a0055c0052t0001g0387 a0058c0166t0001g0371 a0060c0169t0003g0026 a0061c0167t0001g0042 a0078c0122t0040g0363 a0079c0120t0001g0367 a0095c0090t0016g0112 a0120c0165t0001g0219	24	400	0.0600	-250	c.319 others(17): Show c.319+2100_319+2349del		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078347	CGGGCCAG others(243): Show CGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAGCCAGGT GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAATAGAAACCAGGC G	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19078.hp2 NA18967.hp2 NA19078.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0165 a0002c0004t0001g0166 a0002c0004t0001g0165 a0002c0004t0001g0166	2	400	0.0050	-250	c.319 others(17): Show c.319+2243_319+2492del		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
ZNF516_chr18_76352682_76500242	76394144	CAGGTGGT others(243): Show CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG G	C C	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0214 a0001c0001t0011g0214	1	346	0.0029	-250	c.181 others(21): Show c.1811-14091_1811-13842del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ADGB_chr6_146593972_146820462	146696315	ATCCACCC others(242): Show ATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAC AGTGCCCAGCCAGAAATACTTATTTTAAGATAAATTTTGAATTGGTTGAA ATAAGGCCTACTTCAAATGTTCTTTAGCATCATAAAACTTAAAAAAATAA ATTAAATGAGCCCCCTTATTCCAAGGATATTTAAATAAAGTATTGAGGGG ACACAGAGGATTAACTAGAAAGGGCACTGTTTTTGTGAGGAAAAATGTAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp1 HG03225.hp2 HG03453.hp1	a0009 a0034 a0009 a0034	a0009c0066 a0034c0072 a0009c0066 a0034c0072	a0009c0066t0001 a0034c0072t0001 a0009c0066t0001 a0034c0072t0001	a0009c0066t0001g0127 a0034c0072t0001g0158 a0009c0066t0001g0127 a0034c0072t0001g0158	2	276	0.0073	-249	c.157 others(19): Show c.1577+3402_1577+3650del		ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	12/35					INFO_REALIGN_3_PRIME	chr6	TogoVar
ARF4_chr3_57566363_57602344	57588440	GCTCACAC others(242): Show GCTCACACCTGTAATCCCAGCATGTTGGGAGGCTGAGGCAGGTGGATGAC CTGAGCTCAGGAGTTTGTGACCAGCCTGGACAACATGGCAAAACCCTGTC ACTACAAAAAATACAAAAATTAGCCAGGTGTGAGTGGGGCACAGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAAGCCAAGGCGGGTGGATCACCTGA AGTCAGGAGTCAGAGACCAGCCTGACCAACATGGAGAAAGCCCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	358	0.0028	-249	c.68- others(15): Show c.68-4225_68-3977del		ARF4	ENSG00000168374.11	transcript	ENST00000303436.11	protein_coding	1/5						chr3	TogoVar
ASAP1_chr8_130047104_130448674	130049205	TGGGGGGC others(242): Show TGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACATATGGGGGGCA GAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAAC ACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGG GCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGG GAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0153 a0001c0001t0014g0153	1	308	0.0033	-249	c.52 others(11): Show c.5277_*5525del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2898		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049235	AGGGGAAC others(242): Show AGGGGAACATATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGG GCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGG AACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATG GGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02630.hp1 NA18962.hp1 HG01261.hp2 HG02630.hp1 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0201 a0001c0001t0001g0219 a0002c0002t0003g0106 a0001c0001t0001g0201 a0001c0001t0001g0219 a0002c0002t0003g0106	3	308	0.0097	-249	c.52 others(11): Show c.5247_*5495del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2868		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049238	GGAACATA others(242): Show GGAACATATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACA TGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCA GAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAAC ACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGG GCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0125 a0002c0002t0003g0125	1	308	0.0033	-249	c.52 others(11): Show c.5244_*5492del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2865		chr8	TogoVar
ATP9B_chr18_79064394_79383283	79172334	CCCTTGCG others(242): Show CCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGC CACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTGTGAT TACAGGCGTAGCCACCGTGCCCCGCCCTTCCGATCCGCCTTGGCCTCCCA AGGTGCTGTGATTACAGGCGTGAGCCACCGTGCCCCGCCCTTGCGATCCG CCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCGCCGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(103): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp2 HG01346.hp2 HG01361.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp1 NA18980.hp2 NA18990.hp1 NA18992.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19070.hp2 NA19080.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0004 a0002c0002 a0002c0005 others(10): Show a0001c0004 a0002c0002 a0002c0005 a0002c0032 a0002c0033 a0005c0009 a0005c0016 a0006c0012 a0007c0031 a0008c0030 a0009c0034 a0010c0029 a0011c0035	a0001c0004t0002 a0002c0002t0001 a0002c0002t0002 others(17): Show a0001c0004t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004 a0002c0032t0005 a0002c0033t0002 a0005c0009t0005 a0005c0016t0001 a0006c0012t0003 a0007c0031t0002 a0008c0030t0001 a0009c0034t0002 a0010c0029t0004 a0011c0035t0002	a0001c0004t0002g0095 a0002c0002t0001g0158 a0002c0002t0001g0159 others(103): Show a0001c0004t0002g0095 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0196 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0210 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0003g0198 a0002c0002t0003g0204 a0002c0002t0004g0253 a0002c0002t0004g0258 a0002c0002t0009g0177 a0002c0002t0009g0255 a0002c0002t0014g0187 a0002c0005t0001g0178 a0002c0005t0001g0179 a0002c0005t0001g0190 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0197 a0002c0005t0001g0202 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0002g0207 a0002c0005t0002g0208 a0002c0005t0002g0209 a0002c0005t0002g0211 a0002c0005t0004g0184 a0002c0032t0005g0195 a0002c0033t0002g0214 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170 a0005c0016t0001g0169 a0005c0016t0001g0171 a0006c0012t0003g0203 a0006c0012t0003g0221 a0006c0012t0003g0222 a0007c0031t0002g0251 a0008c0030t0001g0254 a0009c0034t0002g0186 a0010c0029t0004g0220 a0011c0035t0002g0201	106	298	0.3557	-249	c.779 others(17): Show c.779-4419_779-4171del		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79245845	CTGCGGAG others(242): Show CTGCGGAGGGCACCGCCCTACTGTCTGTGCGGAGGGCACCGCTCTACTGA CTGAGGAGGGCACCGCCCTACTGACTGTGCGGAGGGCACCACCCTACTGA CTGCGCGGAGGGCACCACCCTACTGACTGCGGAGGGCACCGCCCTACTGT CTGTGCGGAGGGCACCGCCCTACTGACTGAGGAGGGCACCGCCCTACTGA CTGTGCGGAGGGCACCACCCTACTGACTGAGGAGGGCACCACCCTGACTG	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	298	0.0034	-249	c.110 others(19): Show c.1108-7533_1108-7285del		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
BANP_chr16_87946434_88082316	88053418	TACCACCA others(242): Show TACCACCACCACCACCTCTACCACTGTCATCTCCATCATCATCATCACCA ACACAACCACCTTCACCACCACCTCTACTGTCATCTCCATCATCATCACC AGCACAACCACAACCACCTTAACAAACACTACCACCACCACCTCCACCAT CATCTCCATCATCATCATCATCACCAACACAACCACCCTAACGACTACCA CCCCCACCTCCTTCACTATCATCACCATCACCAACACAGTCACCTTCACC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19011.hp2 HG02717.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0259 a0001c0001t0001g0233 a0001c0001t0001g0259	2	352	0.0057	-249	c.131 others(21): Show c.1312-11748_1312-11500del		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH4_chr20_61247261_61945617	61784253	AATGTAAG others(242): Show AATGTAAGCCCAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGTGTCTTG TGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCC CTCCGATATCCTGTGCCCCCAGGAGAATGTAATCCCAGTTCCTCGGGACA GTTCTCGAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAATCCCA GTTCCTCGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp2 HG02055.hp2 others(5): Show HG01109.hp1 HG01255.hp2 HG02055.hp2 HG02148.hp2 HG02895.hp1 HG02922.hp1 HG03195.hp1 HG03540.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0001c0023 others(3): Show a0001c0001 a0001c0007 a0001c0023 a0002c0002 a0002c0004 a0003c0017	a0001c0001t0011 a0001c0001t0028 a0001c0007t0010 others(4): Show a0001c0001t0011 a0001c0001t0028 a0001c0007t0010 a0001c0023t0044 a0002c0002t0013 a0002c0004t0003 a0003c0017t0002	a0001c0001t0011g0005 a0001c0001t0028g0016 a0001c0007t0010g0018 others(5): Show a0001c0001t0011g0005 a0001c0001t0028g0016 a0001c0007t0010g0018 a0001c0007t0010g0044 a0001c0023t0044g0084 a0002c0002t0013g0017 a0002c0004t0003g0034 a0003c0017t0002g0053	8	106	0.0755	-249	c.576 others(19): Show c.576+11073_576+11321del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61784378	AATGTAAT others(242): Show AATGTAATCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGATGTCCTG TGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCC CTCCGATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACA GTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCA GTTCCTCGGGACAGTTCTCCAGGCCCTCCGATATCCTGTGCCCCCAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0029 a0001c0006t0006g0029	1	106	0.0094	-249	c.576 others(19): Show c.576+11198_576+11446del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CLIC4_chr1_24740447_24849321	24800060	CCTGCCCG others(242): Show CCTGCCCGGCCAGCTGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGT CCGGGGGGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG02572.hp2 others(3): Show HG01109.hp1 HG02145.hp1 HG02572.hp2 HG02622.hp1 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 others(3): Show a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0096	6	344	0.0174	-249	c.182 others(17): Show c.182+2223_182+2471del		CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
DDX51_chr12_132131594_132149319	132135306	CGCTCCTC others(242): Show CGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCAC GGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCT CCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGT GTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	1	334	0.0030	-249	c.37 others(11): Show c.3717_*3965del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1287		chr12	TogoVar
DENND4C_chr9_19225693_19379281	19279054	CTGTAATC others(242): Show CTGTAATCCCAGCTAACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAA GCGGATCACAAGGTCAAGGGATCAAGACCATCCTGGCCAACATGATGAAA CCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGTGCGC CTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCC GGGAGGCGGAGGTTGCAGTGAACCAAGATCACACCACTGCACTCCAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00438.hp2 others(105): Show HG00099.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18978.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19009.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19080.hp2 NA19084.hp2 NA19087.hp2 NA19089.hp1 NA19240.hp2 NA20805.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0018 a0021 a0025 a0026 a0027	a0001c0001 a0001c0009 a0001c0019 others(12): Show a0001c0001 a0001c0009 a0001c0019 a0001c0025 a0002c0003 a0003c0004 a0005c0007 a0006c0006 a0008c0008 a0009c0012 a0018c0022 a0021c0026 a0025c0031 a0026c0032 a0027c0033	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(26): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0025 a0001c0001t0033 a0001c0009t0002 a0001c0019t0002 a0001c0025t0026 a0002c0003t0006 a0002c0003t0011 a0002c0003t0031 a0002c0003t0032 a0003c0004t0002 a0005c0007t0009 a0006c0006t0005 a0008c0008t0002 a0008c0008t0009 a0009c0012t0002 a0018c0022t0004 a0021c0026t0002 a0025c0031t0002 a0026c0032t0002 a0027c0033t0004	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 others(105): Show a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0149 a0001c0001t0002g0173 a0001c0001t0002g0290 a0001c0001t0004g0066 a0001c0001t0004g0072 a0001c0001t0004g0082 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0100 a0001c0001t0004g0151 a0001c0001t0007g0040 a0001c0001t0007g0048 a0001c0001t0007g0068 a0001c0001t0007g0086 a0001c0001t0007g0089 a0001c0001t0007g0106 a0001c0001t0007g0150 a0001c0001t0008g0209 a0001c0001t0009g0058 a0001c0001t0009g0062 a0001c0001t0009g0075 a0001c0001t0009g0080 a0001c0001t0010g0102 a0001c0001t0012g0104 a0001c0001t0012g0110 a0001c0001t0012g0111 a0001c0001t0012g0116 a0001c0001t0014g0103 a0001c0001t0018g0060 a0001c0001t0018g0069 a0001c0001t0025g0076 a0001c0001t0033g0079 a0001c0009t0002g0043 a0001c0009t0002g0067 a0001c0019t0002g0070 a0001c0025t0026g0030 a0002c0003t0006g0001 a0002c0003t0006g0002 a0002c0003t0006g0003 a0002c0003t0006g0015 a0002c0003t0006g0016 a0002c0003t0006g0017 a0002c0003t0006g0018 a0002c0003t0006g0019 a0002c0003t0006g0021 a0002c0003t0006g0022 a0002c0003t0006g0023 a0002c0003t0011g0291 a0002c0003t0031g0014 a0002c0003t0032g0020 a0003c0004t0002g0031 a0003c0004t0002g0039 a0003c0004t0002g0042 a0003c0004t0002g0047 a0003c0004t0002g0049 a0003c0004t0002g0050 a0003c0004t0002g0051 a0003c0004t0002g0052 a0003c0004t0002g0054 a0003c0004t0002g0057 a0003c0004t0002g0065 a0003c0004t0002g0071 a0003c0004t0002g0174 a0005c0007t0009g0034 a0005c0007t0009g0036 a0005c0007t0009g0064 a0006c0006t0005g0073 a0006c0006t0005g0074 a0006c0006t0005g0077 a0008c0008t0002g0084 a0008c0008t0002g0085 a0008c0008t0009g0083 a0009c0012t0002g0038 a0009c0012t0002g0056 a0018c0022t0004g0033 a0021c0026t0002g0037 a0025c0031t0002g0078 a0026c0032t0002g0101 a0027c0033t0004g0094	108	292	0.3699	-249	c.305 others(17): Show c.305+2576_305+2824del		DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	2/32						chr9	TogoVar
DHRSX_chrX_2214506_2505976	2296547	CCCCAGGC others(242): Show CCCCAGGCAGATAGGAATAGGACCCAGGCAGATAGGAATAGGACCCAGGC AGATAGACCCCAGGCAGATAGGAATAGGACCCAGGCAGATAGGAATAGGA CCCAGGCAGATAGACCCCAGGCAGATAGGAATAGGACCCAGGCAGATAGG AATAGGACCCAGGCAGATAGACCCCAGGCAGACAGGAATAGGACCCAGGC AGATAGGAATAGGACCCAGGCAGATAGACCCCAGGCAGATAGGAATAGGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01496.hp1 others(12): Show HG00280.hp1 HG01167.hp1 HG01496.hp1 HG01496.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02293.hp2 HG02300.hp1 HG02698.hp1 HG04204.hp1 NA18612.hp1 NA18948.hp1 NA19070.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0008 a0011	a0002c0002 a0003c0003 a0003c0016 others(3): Show a0002c0002 a0003c0003 a0003c0016 a0004c0004 a0008c0010 a0011c0007	a0002c0002t0002 a0002c0002t0003 a0003c0003t0002 others(4): Show a0002c0002t0002 a0002c0002t0003 a0003c0003t0002 a0003c0016t0002 a0004c0004t0001 a0008c0010t0014 a0011c0007t0001	a0002c0002t0002g0016 a0002c0002t0003g0002 a0002c0002t0003g0008 others(12): Show a0002c0002t0002g0016 a0002c0002t0003g0002 a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0042 a0002c0002t0003g0045 a0002c0002t0003g0050 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0018 a0003c0003t0002g0043 a0003c0016t0002g0040 a0004c0004t0001g0048 a0008c0010t0014g0046 a0011c0007t0001g0028	15	50	0.3000	-249	c.287 others(17): Show c.287-5193_287-4945del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6						chrX	TogoVar
DLGAP2_chr8_732628_1713476	1642686	GCCGGCCC others(242): Show GCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGCCCTCACCTGTGTC ACCCTCGAACCCGCCGGCCCTCACCTGTGTCACCCCTCGAACCCGCCAGC CCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTC GAACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACC TGTGTCACCCTCGACCCCCCCGGTCCTCACCTGTGTCACCCTCGACCCCC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	-249	c.181 others(19): Show c.1810+9645_1810+9893del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642691	CCCTCACC others(242): Show CCCTCACCTGTGTCACCCTCGAACCCGCCGGCCCTCACCTGTGTCACCCT CGAACCCGCCGGCCCTCACCTGTGTCACCCCTCGAACCCGCCAGCCCTCA CCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGAACC CGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGT CACCCTCGACCCCCCCGGTCCTCACCTGTGTCACCCTCGACCCCCCCGGT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	40	0.0250	-249	c.181 others(19): Show c.1810+9667_1810+9915del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
EIF3B_chr7_2349827_2385745	2378120	CGCGAGCT others(242): Show CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGA CCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCTGTGT TGTGTGAATGACCCTCGGTGTCATGGAGGAAGGAACAGGCGAGCGTTCCT GGGATGCTGTGTTGTGTGAATGACCCTTGGTGTCATGGAGGAAGGAACAG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02630.hp1 others(3): Show HG02258.hp2 HG02280.hp2 HG02630.hp1 HG02895.hp2 HG03209.hp2 NA19087.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0008 a0001c0009 a0002c0002 others(1): Show a0001c0008 a0001c0009 a0002c0002 a0004c0006	a0001c0008t0001 a0001c0009t0001 a0002c0002t0001 others(1): Show a0001c0008t0001 a0001c0009t0001 a0002c0002t0001 a0004c0006t0001	a0001c0008t0001g0343 a0001c0009t0001g0198 a0002c0002t0001g0187 others(3): Show a0001c0008t0001g0343 a0001c0009t0001g0198 a0002c0002t0001g0187 a0002c0002t0001g0258 a0004c0006t0001g0200 a0004c0006t0001g0201	6	384	0.0156	-249	c.215 others(17): Show c.2155-562_2155-314del		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
FOXN3_chr14_89151177_89422233	89361931	GCACCACC others(242): Show GCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCC ACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCAC CTCCAGCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCA CCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACC ACTACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCTC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0062 a0001c0001t0014g0062	1	230	0.0044	-249	c.544 others(19): Show c.544-11372_544-11124del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362364	CTCCTCCA others(242): Show CTCCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCACCACCT CCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAGCTCCACCACC TCCTCCTCCACCACCACCACCACCACCACCACCATCTCCACCACCACCAC CACCATCTCTACGACCACCACCACCACCATCTCCACCACCACCTCCACCA CCACCACCACCACCATCTCTACGACCACCACCACCACCACCATCTCTACG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0001 a0001c0001t0019g0001	1	230	0.0044	-249	c.544 others(19): Show c.544-11805_544-11557del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
GALNS_chr16_88808734_88861947	88831505	TGAGGCCG others(242): Show TGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACG GGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAG GAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGC CGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02258.hp2 others(2): Show HG01109.hp2 HG01884.hp1 HG02258.hp2 HG02451.hp2 NA21309.hp1	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0002 a0003c0016 a0014c0020 a0001c0002 a0003c0016 a0014c0020	a0001c0002t0004 a0003c0016t0004 a0014c0020t0021 a0001c0002t0004 a0003c0016t0004 a0014c0020t0021	a0001c0002t0004g0009 a0001c0002t0004g0010 a0003c0016t0004g0024 others(2): Show a0001c0002t0004g0009 a0001c0002t0004g0010 a0003c0016t0004g0024 a0003c0016t0004g0025 a0014c0020t0021g0392	5	404	0.0124	-249	c.100 others(17): Show c.1002+244_1002+492del		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
GOLGA6L22_chr15_22453903_22474226	22466124	CGGGAGCA others(242): Show CGGGAGCAGGAGGAGAAGATACGAGAGCAGGAGGAGATGATGCAGGAACA GGAAGAGAAGATGGGGGAGCAGGAAGAGAAGATGCAAGAACAGGAGAAGA TGCGGAGGCAGGAGGAGAAGATAAGGGAGCAGGAGGAGAAGATACGGGAG CAGAAGGAGAAGATACGAGAGCAGGAGGAGAAGATATGGGAGCAGGAGGA GAAGATACGAGAGCAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19002.hp1 NA19002.hp1	a0032 a0032	a0032c0051 a0032c0051	a0032c0051t0001 a0032c0051t0001	a0032c0051t0001g0017 a0032c0051t0001g0017	1	226	0.0044	-249	c.188 others(9): Show c.1884_2132del	p.Arg others(13): Show p.Arg629_Ile711del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	1975/4401	1884/2565	628/854		INFO_REALIGN_3_PRIME	chr15	TogoVar
INPP5E_chr9_136423619_136444845	136431474	CCCCCCAG others(242): Show CCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAG GCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCAC CTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTC ATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCT CCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00558.hp2 others(76): Show HG00140.hp2 HG00280.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02135.hp1 HG02145.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03471.hp1 HG03669.hp1 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18939.hp1 NA18943.hp2 NA18945.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18990.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19077.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0007 others(3): Show a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0019 a0004c0024	a0001c0002t0002 a0001c0002t0018 a0001c0002t0019 others(6): Show a0001c0002t0002 a0001c0002t0018 a0001c0002t0019 a0001c0003t0003 a0001c0003t0016 a0001c0007t0004 a0001c0008t0002 a0001c0019t0020 a0004c0024t0003	a0001c0002t0002g0003 a0001c0002t0002g0012 a0001c0002t0002g0016 others(18): Show a0001c0002t0002g0003 a0001c0002t0002g0012 a0001c0002t0002g0016 a0001c0002t0002g0144 a0001c0002t0002g0147 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0157 a0001c0002t0002g0159 a0001c0002t0018g0146 a0001c0002t0019g0054 a0001c0003t0003g0001 a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0176 a0001c0003t0016g0169 a0001c0007t0004g0045 a0001c0008t0002g0038 a0001c0008t0002g0141 a0001c0019t0020g0142 a0004c0024t0003g0186	79	382	0.2068	-249	c.154 others(17): Show c.1549+101_1549+349del		INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9						chr9	TogoVar
KCNIP4_chr4_20723606_21953772	21714840	TTTTATTT others(242): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG01433.hp1 others(30): Show HG01123.hp1 HG01123.hp2 HG01433.hp1 HG01517.hp1 HG01517.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02615.hp1 HG02622.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03654.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18971.hp1 NA18971.hp2 NA19030.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0005t0003	a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0044 others(30): Show a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0002g0076 a0001c0001t0003g0061 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0005g0027 a0001c0001t0005g0034 a0001c0001t0005g0072 a0001c0001t0006g0078 a0001c0001t0007g0016 a0001c0001t0010g0033 a0001c0001t0011g0003 a0001c0001t0013g0059 a0001c0001t0014g0077 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0052 a0001c0002t0002g0011 a0001c0002t0003g0008 a0001c0002t0003g0039 a0001c0002t0004g0048 a0001c0002t0008g0010 a0001c0002t0008g0047 a0001c0005t0003g0007	33	80	0.4125	-249	c.61+ others(19): Show c.61+233482_61+233730del		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KIF25_chr6_167992671_168050091	167997239	TCGGGGGA others(242): Show TCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGG GTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01358.hp1 others(19): Show HG00099.hp1 HG00140.hp1 HG01358.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02135.hp1 HG02273.hp1 HG02683.hp2 NA18940.hp1 NA18943.hp1 NA18947.hp2 NA18950.hp1 NA18957.hp1 NA18968.hp2 NA18980.hp1 NA18994.hp2 NA18999.hp2 NA19058.hp2 NA19062.hp2 NA19066.hp1 NA19079.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0015 a0011c0027	a0001c0001t0014 a0001c0001t0021 a0001c0003t0051 others(5): Show a0001c0001t0014 a0001c0001t0021 a0001c0003t0051 a0002c0002t0003 a0002c0002t0022 a0002c0002t0053 a0002c0015t0003 a0011c0027t0050	a0001c0001t0014g0077 a0001c0001t0021g0034 a0001c0003t0051g0092 others(19): Show a0001c0001t0014g0077 a0001c0001t0021g0034 a0001c0003t0051g0092 a0002c0002t0003g0029 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0086 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0102 a0002c0002t0003g0134 a0002c0002t0003g0137 a0002c0002t0003g0319 a0002c0002t0022g0100 a0002c0002t0022g0101 a0002c0002t0053g0030 a0002c0015t0003g0135 a0011c0027t0050g0070	22	375	0.0587	-249	c.-22 others(11): Show c.-2229_-1981del		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					431		chr6	TogoVar
MAPK1_chr22_21754657_21872645	21814476	ATGGCAAA others(242): Show ATGGCAAATTGTATGCTTTTTACCAAAACATATAATTAACCAAAACAATT TTACTTTGTAAAGAGATGAAGTCTCGGCTGGGCACGGTGGCTCACGCCTG TAATCCCAGCACTCTGGGAAGCTGAGGTGGGTGGATCACGAGGTCAGGAG ATCGAGACCAGCCTGGCTAACATGGTGAAACACTGTCTCTACTAAAAATA CAAGAATTAGCAGGGCGTGGTGGCACGCGCCTGTAATCCCAGCTACTCAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02895.hp1 HG01243.hp1 HG02280.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0176 a0001c0001t0001g0190 a0001c0001t0001g0191	3	348	0.0086	-249	c.120 others(17): Show c.120-6879_120-6631del		MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8						chr22	TogoVar
MYO1F_chr19_8515778_8582442	8543654	CTGGTGGT others(242): Show CTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGG TGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGCTG GTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp2 HG03669.hp2 HG00099.hp2 HG01255.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0110 a0001c0001t0002g0318 a0001c0001t0002g0319	3	342	0.0088	-249	c.152 others(17): Show c.1524+394_1524+642del		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
P2RX5_chr17_3668227_3701155	3685986	CCAGCCTG others(242): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGG CCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACA GGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCA GCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0167 a0002c0002t0002g0167	1	362	0.0028	-249	c.981 others(17): Show c.981+1777_981+2025del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PACSIN2_chr22_42864773_43020149	42981250	ACCGCCCC others(242): Show ACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGTCCGGCAACCACCCCGT CTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGCGGGGGGGGTCGGCCAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02895.hp2 others(1): Show HG02055.hp1 HG02257.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 others(1): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185	4	294	0.0136	-249	c.-78 others(19): Show c.-78+33522_-78+33770del		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10						chr22	TogoVar
RAD21L1_chr20_1221044_1260876	1258775	GTTTGAGA others(242): Show GTTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGCTTCT TGGTAACTGATTTGGTATCTTCCCTCTTTTCTAATATAAACACATAAAGC TCTTGTTTCCTTCTTGGTAACTGGTTTGAGATCTTCCCTCTTTTATAATA TAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCATCC CTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTTGGTAACTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02258.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0033 a0002c0002t0007g0033	2	364	0.0055	-249	c.43 others(11): Show c.4319_*4567del		RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding					2900		chr20	TogoVar
SGSM2_chr17_2332501_2386054	2356477	GTTGGGGG others(242): Show GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG ATTGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0219 a0001c0003t0002g0219	1	422	0.0024	-249	c.134 others(17): Show c.134-5153_134-4905del		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356529	TGGGGGAA others(242): Show TGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGT TGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGAT TGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGTT GGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGATT GGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGTTG	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03688.hp2 HG02698.hp2 HG03688.hp2	a0001 a0023 a0001 a0023	a0001c0001 a0023c0018 a0001c0001 a0023c0018	a0001c0001t0001 a0023c0018t0001 a0001c0001t0001 a0023c0018t0001	a0001c0001t0001g0304 a0023c0018t0001g0114 a0001c0001t0001g0304 a0023c0018t0001g0114	2	422	0.0047	-249	c.134 others(17): Show c.134-5103_134-4855del		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2B3_chr12_111400923_111456623	111415246	CCTGAGTA others(242): Show CCTGAGTAGGGAGAGCATTTCTTCTCCATCTTGAAGAGCGACATGGATAT GTGGTCTCCAGCAGGGGCCCAGGCCCAGCGAGGGTCAGGAGGAAGGAAGG ATGGTGCCCACAGAGGTCCCAACTGTTCTGCACCGTGGACAGCAGAGGGG TGGGGGGTCTCAGTGCCATTCTGGTGATGTTGTGCCTAAGGAAAGGCCCT CTGGCCATGGGAGGAGAAGGATGCCCCAGTTGAGATGGGCAGGCAAAGGT	C C	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19091.hp2 NA18992.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0262 a0001c0001t0006g0265 a0001c0001t0006g0262 a0001c0001t0006g0265	2	326	0.0061	-249	c.-27 others(17): Show c.-27-2869_-27-2621del		SH2B3	ENSG00000111252.11	transcript	ENST00000341259.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC16A9_chr10_59645764_59714850	59681456	GTGTATGT others(242): Show GTGTATGTGTATGTATATGTATATGTATATGTATATGTATATGTATATGT ATATGATGTATATGTATATGTGTATGTGTATGTGTATGTATATGTATATG TATATGATGTATATGTATATGTGTATGTGTATGTATATGTATATGTATAT GTATATGTATATGTATATGATGTATATGTATATGTGTATGTGTATGTATA TGTATATGATGTATATGTATATGTATATGTATATGTATATATATATGTAT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01168.hp1 HG01981.hp2 others(17): Show HG00621.hp1 HG01168.hp1 HG01981.hp2 HG02055.hp1 HG02083.hp2 HG02129.hp2 HG02451.hp2 HG02965.hp2 NA18944.hp1 NA18953.hp1 NA18959.hp1 NA18969.hp2 NA18975.hp1 NA18999.hp1 NA19004.hp1 NA19007.hp1 NA19011.hp1 NA19062.hp1 NA19070.hp1 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0026 a0008c0008t0002	a0001c0001t0002g0087 a0001c0001t0002g0131 a0001c0001t0002g0139 others(16): Show a0001c0001t0002g0087 a0001c0001t0002g0131 a0001c0001t0002g0139 a0001c0001t0002g0154 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0002g0272 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0005g0001 a0001c0001t0007g0138 a0001c0001t0026g0338 a0008c0008t0002g0137	20	352	0.0568	-249	c.196 others(17): Show c.196+2391_196+2639del		SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5						chr10	TogoVar
SNTG2_chr2_945849_1372613	1009190	TGTGGGTC others(242): Show TGTGGGTCGTGTGTATGGCAGCCACACCTGTGTCCCCAGGAAGACATGCT GGTTCTGATACTGGTGGGTCGTGTGTATGGCAGCCACACCTGTGTCCCCA GGAAGACTGCTGGTTCTGATACTGGTGTGGGTCGTGTGTATGGCAGCCAC ACCTGTGTCCCCAGGAAGACATGCTGGTTCTGATACTGGTGGGTCGTGTG TATGGCAGCCACACCTGTGTCCCCAGGAAGACATGCTGGTTCTGATACTG	T T	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0128 a0008c0011t0001g0128	1	190	0.0053	-249	c.72+ others(17): Show c.72+58254_72+58502del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414930	CACAGTGT others(242): Show CACAGTGTTATATAGTATGTACATACACACACATATAGTGTGTATATAGT ATGTATATACACACATATAGTGTGTATATAGTATGTATATACACACATAT AGTGTGTATATAGTATGTATATACACACATATAGTGTGTATATAGTATGT ATATACACACATATAGTGTGTATATAGTATGTATATACACACATATAGTG TGTATATAGTATGTATATACACACATATAGTGTGTATATAGTATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA21309.hp1 HG02145.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0074 a0001c0001t0001g0075	2	358	0.0056	-249	c.233 others(19): Show c.2334-1886_2334-1638del		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20						chr2	TogoVar
TECR_chr19_14524594_14570980	14535455	CGAGATCG others(242): Show CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATATATATATATATATATATATGTATGTATATATAAA TTAGCCAGGCATCATGGTGCACTCCTGTAATCCCAGGTACTCGAGAGACT GAGGCAGGAGAATTCGTTTGAACCTGGGAGGTGGAGGTCGCGGACGAGCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp2 HG02451.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0029 a0001c0005t0001g0028 a0001c0002t0001g0029 a0001c0005t0001g0028	2	332	0.0060	-249	c.15+ others(15): Show c.15+5753_15+6001del		TECR	ENSG00000099797.15	transcript	ENST00000215567.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
TENM2_chr5_166974029_168269157	167974015	GGGAGGGA others(242): Show GGGAGGGAGGAAGGAAGGAAGGAGAAGGAAGGAAGGGAGGAAAGGAGGGA GGGAGGGAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAG GGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAG GAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGAAAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0014 a0002c0024t0014	a0002c0024t0014g0048 a0002c0024t0014g0048	1	54	0.0185	-249	c.948 others(19): Show c.948-18906_948-18658del		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TPD52L2_chr20_63860270_63896538	63888374	TTCAGTAC others(242): Show TTCAGTACGAGAGCCCAGGGTGTCCCTGTAGGGGACAGCAGAGAGGGGCC GACAGCCCCCCAACTGCGCAGACTTTTCATAACCTCAGTACGAGAGCCCA GGGTGTCCCTGTAGGGGATAGCAGAGAGGGGCCGACAGCCCCCCAACTGC ACAGACTTTTCATAACCTCAATACGAGAGCCCGGGGTATCCCTGTAGGGG ACAGCAGAGAGGGGCCGACAGCCCCCCAACTGCGCAGACTTTTCATAACC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04228.hp2 HG03654.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0071 a0001c0001t0003g0053 a0001c0001t0003g0071	2	368	0.0054	-249	c.477 others(15): Show c.477-781_477-533del		TPD52L2	ENSG00000101150.18	transcript	ENST00000346249.9	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS53_chr17_503668_719839	618151	GCCACCAC others(242): Show GCCACCACGCCCCACTAATGTTTCCCGGGTAGCTGGGACTACAGGCGTGC GCCACCACGCCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGC ACCACCACGCCTGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGCG CCACCACGCCCCACTAATATTTCCTGGGTAGCTGGGACTACAGGGGTGCA CCACCACGCCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG01099.hp2 others(8): Show HG00099.hp2 HG00280.hp2 HG01099.hp2 HG01168.hp2 HG01175.hp1 HG01515.hp2 HG01981.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 NA18948.hp1	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0001 a0001c0006t0021 a0001c0006t0039 others(7): Show a0001c0006t0001 a0001c0006t0021 a0001c0006t0039 a0001c0006t0040 a0001c0006t0041 a0001c0006t0053 a0001c0006t0057 a0001c0006t0068 a0001c0006t0074 a0001c0016t0052	a0001c0006t0001g0113 a0001c0006t0021g0100 a0001c0006t0021g0101 others(8): Show a0001c0006t0001g0113 a0001c0006t0021g0100 a0001c0006t0021g0101 a0001c0006t0039g0003 a0001c0006t0040g0002 a0001c0006t0041g0001 a0001c0006t0053g0102 a0001c0006t0057g0103 a0001c0006t0068g0098 a0001c0006t0074g0097 a0001c0016t0052g0099	11	232	0.0474	-249	c.111 others(19): Show c.1116+5133_1116+5381del		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21						chr17	TogoVar
XXYLT1_chr3_195063284_195276159	195109867	GTGTATGT others(242): Show GTGTATGTGTGCATGTGTGTGGGTGAGGTGTGGGTGTGTGTGGTGTGTGT GGGGGTATATGTGTGTGTGGTATATGAGTGTGCGTGCATGTGTGTGTGTT GTGTGTATGTGTGTGGGTGGGGGTGTGTGCATGGTGTGTGGTTGTGTGTG GCATGAGTGTGCATGTCTGGTGTATGTGTGCGTGTGTGTGGTGTGTGTGG TGTCTGGTGTGTGTGGTGTATGAGTGTGCGTGTGTGGTGTATGTGTGCAT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00738.hp2 others(50): Show HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG02055.hp1 HG02258.hp2 HG02300.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA18942.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0006t0034 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0151 a0001c0001t0002g0071 a0001c0001t0002g0141 a0001c0001t0002g0152 a0001c0001t0003g0033 a0001c0001t0003g0043 a0001c0001t0003g0065 a0001c0001t0005g0005 a0001c0001t0005g0053 a0001c0001t0005g0142 a0001c0001t0008g0030 a0001c0001t0011g0132 a0001c0001t0012g0092 a0001c0001t0012g0113 a0001c0001t0012g0114 a0001c0001t0013g0178 a0001c0001t0013g0179 a0001c0001t0014g0026 a0001c0001t0017g0075 a0001c0001t0017g0086 a0001c0001t0021g0072 a0001c0001t0024g0173 a0001c0001t0027g0055 a0001c0001t0030g0069 a0001c0001t0031g0063 a0001c0001t0033g0044 a0001c0006t0034g0183 a0002c0002t0004g0023 a0002c0002t0004g0050	53	198	0.2677	-249	c.786 others(19): Show c.786-40005_786-39757del		XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3						chr3	TogoVar
ZNF667_chr19_56434329_56482345	56444667	GAAATTTC others(242): Show GAAATTTCAACATGAGATTTGGTGAGAAATCCACCCCCATGATCCAATCA CCTCCCACAGACCCCACCTCCAACACTGAGGATTAAATTTCAACATGAGA TTTGGTGAGAAATCCACCCCCATGATCCAATCACCTCCCACAGACCCCAC CTCCAACACTGAGGATTAAATTTCAACATGAGATTTGGTGAGAAACCCAC CCCCATGATCCAATCACCTCCCACAGACCCCACCTCCAACACTGAGGATT	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	362	0.0028	-249	c.254 others(17): Show c.254-2175_254-1927del		ZNF667	ENSG00000198046.13	transcript	ENST00000504904.8	protein_coding	6/6						chr19	TogoVar
AHRR_chr5_316714_443285	356476	CGAGTGGA others(241): Show CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGG	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0004 a0003c0004t0004g0004	1	268	0.0037	-248	c.244 others(17): Show c.244+2689_244+2936del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr5	TogoVar

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Search Results (Total: 10000 hits)