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
PKHD1L1_chr8_109357461_109542207	109382674	AAAAATAC others(367): Show AAAAATACATTAGCATGTAACAAAGGATAATTTCCCTCAATTTAAATTAT CTTCCATAGTAATTTAATGTCTGTTATTTCTGATTTGTTTCCCCTCCTTT AATTTTACTATTAAATTAAACTTTTGTACTTCAAACATGTTTTCTTGTTC ATATTTTCCCCTTTATCTCTACTTCTACTCTTAGTGTGATTCTCCCTTTT CCTATTTTAATCGAAGTAACTACCTTTCCTTTCTACGTAATTTCTAACGT AATGAGATAAAATGTGCCTGCATGTGGTGTAAGAGCCACTCAAAATTTAG CTGCCCTAAATAGAAGTATTAGCAGTAATACATTTTCTTCTAAGCATTAT CCCATATATATATAATTAAATTAGT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0193 a0001c0001t0010g0193	1	282	0.0036	-374	c.417 others(15): Show c.417+104_417+477del	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	4/77			chr8	TogoVar
SMYD3_chr1_245744347_246512279	246388568	AGGGGACC others(367): Show AGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTT GAAGTCAGTTTCTAGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAA TCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATT CATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTT GTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCT GGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAAATCACCTCGAGGTT GAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAAT CACCTCGAGGTTGAAGTCAGTTTCT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03209.hp1 HG02895.hp2 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0005t0001 a0002c0003t0001 a0002c0005t0001	a0002c0003t0001g0144 a0002c0005t0001g0146 a0002c0003t0001g0144 a0002c0005t0001g0146	2	150	0.0133	-374	c.165 others(19): Show c.165-33848_165-33475del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SORCS2_chr4_7187538_7747827	7363580	CATCACCA others(367): Show CATCACCACCATTGTGGTGTATCACCATTACCATCACCGTCACCATAACC ATGCCTCACCATCATCATCACCATCACCACCATTGTGGTGTATCACCATT ACCATCACCGTCACCATAACCATGCCTCACCATCATCATCACCATCACCA CCATTGTGGTGTATCACCATTACCATCACCGTCACCATAACCATGCCTCA CCATCATCATCACCATCACCACCATTGTGGTGTATCACCATTACCATCAC CGTCACCATAACCATGCCTCACCATCATCATCACCATCACCACCATTGTG GTGTATCACCATTACCATCACCGTCACCATAACCATGCCTCACCATCATC ATCACCATCACCACCATTGTGGTGT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0104 a0001c0005t0019g0104	1	168	0.0060	-374	c.481 others(19): Show c.481-32700_481-32327del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
XAGE2_chrX_52364021_52380680	52374715	AAATATTT others(367): Show AAATATTTAGTTATTCTAGATGTCTTCCTCTACATCTCCATTTCCCTTTC CGTTTCTTTTTTTTCGTGCCATACTGTTCATGATATATACCTCTTTCATA TTTTGATATCAATAATGATAATGATAGATTAAAAGTAATGCGATCATATA ATTAATTATACAAAGGGGAATTTTTTCAAGTGTAAAAAGAGATATTTGTA TTAACATCAGGACTATAGGTGAAAACTGGGGACAGATGTTTACCATACCT TAATATCTACAGAAGGGTAAACTAACCCAAAGCAACATTTTTGCACTTTG GCACAATAGAGGAAAAAACAAATGCAATACTGTCCTTTCTATTCACCACG CATATGCAGCTTCTAATGTGACATT	A A	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19091.hp1 NA19000.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	253	0.0079	-374	c.314 others(15): Show c.314-851_314-478del	XAGE2	ENSG00000155622.7	transcript	ENST00000286049.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARFGEF3_chr6_138156939_138349663	138171024	CCTGTGAT others(366): Show CCTGTGATAACAGCATTCATCCATTCATGGAGCAGAGCCCTCATGGCCAG ATCACCTCTCATTAGGCCTGACCTCCCAATACTGTTGCATTGGGGATTAC GTTTCCAACACTTACTTTTGGTGGGGACACGTTCATATGATAGCATAGCA TTTTACTTGCTGACTAAAGGCTTTCTTGCACCCATGAGCTGGGATATTTC ATGAGGTTACCATGATGTGAACCTGATTGCATTCGCTCCCCCTGTCTGTA GAGGGAATGAAATCAGTGACCTAAAGGAACCAGCCATGGAAGTCCATGGT AAAAGGATCAAATTGGTCAAGGAGAGACATGATCAAAACTTATGTGAAGG AGTAGAAAGAAAATTGCACTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02622.hp2 HG02717.hp2 HG01106.hp1 HG02622.hp2 HG02717.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0033 a0012c0036 a0001c0001 a0001c0033 a0012c0036	a0001c0001t0008 a0001c0033t0005 a0012c0036t0012 a0001c0001t0008 a0001c0033t0005 a0012c0036t0012	a0001c0001t0008g0179 a0001c0033t0005g0023 a0012c0036t0012g0178 a0001c0001t0008g0179 a0001c0033t0005g0023 a0012c0036t0012g0178	3	190	0.0158	-373	c.137 others(15): Show c.137+315_137+687del	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
ASAP1_chr8_130047104_130448674	130049352	GGGGCAGA others(366): Show GGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGA GGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATAC ATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGC AGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGA ACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGGGAACACATGGA GGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAG GAGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACA TGGGGGCAGAGGGGAACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0088 a0001c0001t0028g0088	1	308	0.0033	-373	c.50 others(11): Show c.5006_*5378del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2751		chr8	TogoVar
CNST_chr1_246561456_246673595	246620069	GCATACAC others(366): Show GCATACACACGATGGGCTCTGGGAACACTACAGGGAGGACGGCTTCATCG TGGTGCATACACACGATGGGCTCTGGGAACACTACAGGGAGGACGGCTTC ATCGTGGTGCATACACACGATGGGCTCTGGGCACACTACAGGGAGGACGG CTTCATCGTGGTGCATACACACGATGGGCTCTGGGAACACTCTACAGGGA GGACGGCTTCAGTCGTGCATACACACGATGGGCTCTGGGAACACTACAGG GAGGACGGCTTCAGTCGTGCATACACACGATGGGCTCTGGGAACACTCTA CAGGGAGGACGGCTTCAGTCGTGCATACACACGATGGGCTCTGGGCACAC TCTACAGGGAGGACGGCTTCAGTC	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	320	0.0031	-373	c.380 others(16): Show c.380-1359_380-987del	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10			chr1	TogoVar
CPNE7_chr16_89570758_89602246	89587718	ACCCCCGT others(366): Show ACCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCAC CCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGAT ACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACA GATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC CCCGTGTTACCCACAGATACACGG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02818.hp1 NA19011.hp1 HG01099.hp1 HG02818.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0001t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0089 a0001c0002t0002g0257 a0001c0002t0005g0163 a0001c0001t0001g0089 a0001c0002t0002g0257 a0001c0002t0005g0163	3	348	0.0086	-373	c.927 others(15): Show c.927+673_928-528del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCLK1_chr13_35763652_36136382	35837280	TTTCTGGA others(366): Show TTTCTGGAAAGCGTTGAACAAATGTAGGACATTTGCTGCTGCTACTTTTG TCCTTGGCATTGGTACAGCCTCTTCACCCCTTTATAGGTGACATTTCCCT CTTACCCTGCTAGAAGCCATCTAGGTGGTCTCTAGAATAAAGTGAGGGCT GCAGCCAATCCCCCTAACCCCATCTCACCCCTCTAAAGAAGCCACAATTT TGCCTCTGTTTGAAGGACTCAGCCAGGGGAGTTTTGTCTACTGCAAAGCA CCCAAATTTACAAAACAGCTCCCAGATGACACAATCTTAAGGCTCTTTAC TATGTGGCTAAGAAAGGAACCCTCCTTGGCTGTTGGGTACAAGTGTGACC CTGCAGGTGGGAAATGGAAGAAGG	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0222 a0001c0004t0007g0222	1	230	0.0044	-373	c.112 others(19): Show c.1120+1439_1121-1140del	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	7/16			chr13	TogoVar
DIP2C_chr10_269201_694668	417741	AGGGCTCG others(366): Show AGGGCTCGGATAGGCATCCCTGTCCACCTGCACCTGTCAGGGCTCGGATA GGCCTCCCTGTCCACCTGTTCCTGTCAGGGCGCGGACAGGCCTCCCTGTC CACCTGCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGCACCTG TCAGGGCTCGGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGA TAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCTCCCTG TCCACCTGCACCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCTGTTCC TGTCAGGGCTTCGATAGGCCTCCCTGTTCACTGCACCTGTCAGGCCTCAG ATAGGCATCCCCGTCCACCTGTCG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp2 HG01934.hp1 others(13): Show HG00609.hp1 HG00738.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02040.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02300.hp1 NA18747.hp1 NA18962.hp2 NA19066.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0007 others(2): Show a0001c0002 a0001c0006 a0001c0007 a0001c0011 a0001c0022	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0006t0001 a0001c0006t0002 a0001c0007t0007 a0001c0011t0003 a0001c0022t0003	a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0001g0057 others(13): Show a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0066 a0001c0002t0002g0055 a0001c0002t0002g0067 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0043 a0001c0002t0003g0047 a0001c0006t0001g0045 a0001c0006t0002g0038 a0001c0006t0002g0046 a0001c0007t0007g0060 a0001c0011t0003g0088 a0001c0022t0003g0002	16	88	0.1818	-373	c.739 others(16): Show c.739+951_739+1323del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	417810	TCCTGTCA others(366): Show TCCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGAGC TCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCT CCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCT GCACCTGTCAGGGCTCGGATAGGCCTCCCTGTCCACCTGCACCTGTCAGG GCGCGGACAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGC CTCCCTGTTCACTGCACCTGTCAGGCCTCAGATAGGCATCCCCGTCCACC TGTCGGAGCTCGGATAGGCCTCCCTGTCCACCTGCACCTGTCAGAGCTCG GACAGGCCTCCCTGTCCACCTGCA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	88	0.0114	-373	c.739 others(16): Show c.739+882_739+1254del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DOCK8_chr9_209865_470255	400109	CCACCACC others(366): Show CCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCACC ACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCAC CTCCACTATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACTTCCTTCACCACCACCACCATCTTCACC GTCACCACCACCTCCACCACCACCACCTCCTCCACCACCACCACCTCCTC CACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCA CCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTC ACCATCACCACCACCCACCTCCTT	C C	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	256	0.0039	-373	c.323 others(18): Show c.3234+856_3234+1228del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIK5_chr19_41993324_42075206	42018290	CTCCACGC others(366): Show CTCCACGCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAGAAAA GAAAAGAAAAGAAATAAAGAAATGTTGCTTCTCAGCCAGGTGCCGTGGCT CACACCTGTAATCCCAGCACTTTGGGAGGCCGACCCAGGTGAGTGGATCA CTTAAGGTCAGGAGTTAGAGATCATCCTGGCCAACACGGCAACACCCCAT CTTTACTAAAAATACAAAAATTAGTGAAGCAAGGTGGTGCACGCCTGTAA TCCCAGCTACTTGGGAGGCTGTGGCAGGAGAATCACTTGATCCCGGGAGG TGGAGATTGCAGTGAGCTGAGATCGTGCCACAGCACTCCAGCCTGAGCAA CAAAGCAAGACTCTGTCTCAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02615.hp2 HG01243.hp1 HG02109.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0165 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0001g0165 a0001c0001t0002g0169 a0001c0001t0002g0170	3	172	0.0174	-373	c.187 others(19): Show c.1871+2638_1871+3010del	GRIK5	ENSG00000105737.10	transcript	ENST00000593562.6	protein_coding	15/19			chr19	TogoVar
LCOR_chr10_96827298_97000956	96941370	GCGCCCCT others(366): Show GCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCAGGGGGCTGACCC CCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG TGGCTGCCGGGCGGAGACGCTCCTCACTTTCCAGACGGGGTGGCTGCCAG GCGGAGGGGCTCCTCACTTCCCAGACGGGGTGGCTGCCGGACGGAGGGGC TCCTCACTTCTCAGACGGGGCGGTTGCTAGGCAGAGGGTTTCCTCACTTC TCAGACGGGGCGGCCGGGCAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18945.hp1 NA18980.hp2 others(3): Show HG00673.hp1 NA18945.hp1 NA18980.hp2 NA19060.hp2 NA19068.hp1 NA19085.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0004 a0003c0003t0008 others(1): Show a0003c0003t0002 a0003c0003t0004 a0003c0003t0008 a0003c0003t0086	a0003c0003t0002g0005 a0003c0003t0002g0048 a0003c0003t0002g0057 others(3): Show a0003c0003t0002g0005 a0003c0003t0002g0048 a0003c0003t0002g0057 a0003c0003t0004g0035 a0003c0003t0008g0040 a0003c0003t0086g0050	6	288	0.0208	-373	c.-18 others(19): Show c.-183-2739_-183-2367del	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LINGO1_chr15_77608027_77637912	77618526	TTCTTTTT others(366): Show TTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTTTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTGTTA	T T	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0055 a0001c0001t0022g0055	1	386	0.0026	-373	c.7-2 others(13): Show c.7-2999_7-2627del	LINGO1	ENSG00000169783.13	transcript	ENST00000355300.7	protein_coding	1/1			chr15	TogoVar
MACROD2_chr20_13990516_16058197	15731367	TTCTCTGA others(366): Show TTCTCTGATGCCCTTGGGGGTTTGATTGTGGTATAAGGTGAGTTCAGTCA ACTGGGTTGATTTCTGGAAGATTTTAAGGGGCCAAGGCTCAGCTCAGCAT TCCTGGTCTGAGTGCTTTAACTCTGGGGGGCTGGTACCAGGTCCCCACAC TTGTTCTCTGGCACCTTGAGGTTAGAAACCAGCTGCACTAGAAAGGCCAA CGTGTTTCCAGTCCACTGGCTACAACATTCCTGTGGGAGGTACTGACCAA AGCACTTCACTGGGGCAGTGGCAGTGGGATCCATGCTCACTTACACATGC TAGGAGCCATGGCATTGCAGAGAGGTGCACATGCGTCGCCTGGGGCAGGA TACTGGCAGAAACGAGTTTGCAGC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01081.hp2 others(7): Show HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG02257.hp2 HG02559.hp1 HG03041.hp1 HG03486.hp2 NA19030.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0002c0002t0002 a0002c0002t0003 a0003c0003t0006	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0002g0015 a0001c0001t0013g0006 a0002c0002t0002g0022 a0002c0002t0003g0024 a0003c0003t0006g0019	10	24	0.4167	-373	c.646 others(21): Show c.646-131377_646-131005del	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	8/17			chr20	TogoVar
PCSK5_chr9_75885673_76367975	76157414	GAAAGTTT others(366): Show GAAAGTTTTCTACTGTCGATATTTCTATTTGATGGTGCAAGTATTCTCCA GAAGTCAGTGTACTTTTAAAAACTGTAACAACTCTATACTGCGTAGTTAT CCAAAGAGTGGTACAAAATGTACGGTAAAAGAGATTGCAGTTTACTCACA GCTTTCAGGGCCTATTCCCCAGTTTTAGTGGCACAAACTTGGAAGCTGTG CTGACAGGGTTTGCCAACAGGATTCTATCTTAGTAGGCTTATTAGTGTTT TGCTCTTGGCTTTCTGTTCAGAGACTTTTCTCTCTGAAAAATATTTTTGA ACTTTGGTTGATGATGAAACTAGAGACATTGTCATTCTTGAGAAAATTTG TTTGGAAGCAGAAGTAAATCAACT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02630.hp1 HG02647.hp1 others(1): Show HG01255.hp1 HG02630.hp1 HG02647.hp1 HG03041.hp2	a0004 a0008 a0013 others(1): Show a0004 a0008 a0013 a0021	a0004c0006 a0008c0060 a0013c0032 others(1): Show a0004c0006 a0008c0060 a0013c0032 a0021c0033	a0004c0006t0006 a0008c0060t0043 a0013c0032t0009 others(1): Show a0004c0006t0006 a0008c0060t0043 a0013c0032t0009 a0021c0033t0014	a0004c0006t0006g0041 a0008c0060t0043g0166 a0013c0032t0009g0127 others(1): Show a0004c0006t0006g0041 a0008c0060t0043g0166 a0013c0032t0009g0127 a0021c0033t0014g0139	4	166	0.0241	-373	c.143 others(17): Show c.1430+259_1430+631del	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PI4KA_chr22_20702691_20863811	20821338	TCTCCTGA others(366): Show TCTCCTGAGTAGCTAAGATTACAGGTGCATGCCACCATGCCTGGCTAATT TTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTAGCCGGGCTGGTC TCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCGCAAAGTGCT GAGATTATAGGCGTGAGCCACTGCGCCCAGTCCATAATTATTTAAGTTAA GAAATTTTTTTTTGTTCCTGGAAGGGTGGCTTATGCCTATAATCCCAGCA CTTTTGTTTGTTTGTTTGTTTTGAGGCGCGGTTTCACTCTTGTTGCCCAG GCTGCAGTGCAATGGCATGTCTCGGCTCACCACAACCTCCGCCTCCTGGG TTCAAGCGATTCTCCTGCCTCAGC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19066.hp2 NA18971.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0212 a0001c0001t0001g0213	2	334	0.0060	-373	c.457 others(16): Show c.457-1100_457-728del	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	4/54			chr22	TogoVar
RNASE10_chr14_20500537_20518884	20506407	TGCCCGGC others(366): Show TGCCCGGCCAGCCGTCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCAGTCCG GGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCAGTCCAG GAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0036 a0001c0001t0042g0036	2	396	0.0051	-373	c.-6+ others(13): Show c.-6+402_-6+774del	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPH3AL_chr17_207389_357807	300084	CAGGGGCT others(366): Show CAGGGGCTGGCCCAGCCTAGGCCCGCAGAATCTCTCACCCGCTCTAGCAG GGGCTGGCCCAGCCTAGGCCTGCAGAATCTCTCACCCACTCTAGAAGGGG CTGGCCCAGCCTAGGCCTGCAGAATCTCTCACCCACTCTAGAAGGGGCTG GCCCAGCCTAGGCCTGCAGAATCTCTTACCCGCTCTAGCAGGGGCTGGCC CAGCCTAGACCTGCAGAATCTCTCACCCGGTCTAGCAGGGGCTGGCCCAT AGGCCTGCAGAATCTCTCACCCGCTCTAGCAGGGGCTGGCCCAGCCTAGA CCTGCAGAATCTCTCACCCACTCTAGAAGGGGCTGGCCCAGCCTAGACCT GCAGAATCTCTCACCCACTCTAGA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02080.hp1 HG02135.hp2 others(5): Show HG02074.hp2 HG02080.hp1 HG02135.hp2 NA18940.hp2 NA18959.hp2 NA18995.hp1 NA18999.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0012 a0001c0001t0014 a0001c0004t0001 others(3): Show a0001c0001t0012 a0001c0001t0014 a0001c0004t0001 a0001c0004t0004 a0001c0004t0026 a0001c0008t0001	a0001c0001t0012g0053 a0001c0001t0014g0023 a0001c0004t0001g0046 others(5): Show a0001c0001t0012g0053 a0001c0001t0014g0023 a0001c0004t0001g0046 a0001c0004t0001g0050 a0001c0004t0001g0062 a0001c0004t0004g0014 a0001c0004t0026g0013 a0001c0008t0001g0044	8	133	0.0602	-373	c.352 others(19): Show c.352-18603_352-18231del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SGSM1_chr22_24801211_24932578	24881064	ACGCCTGT others(366): Show ACGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGA ACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCA GCCTGGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAG ATGGAGATAATAATAGTAACTAATTCCTAGGGTTGTGGGGAGAATGGGAT GAGTTAAGTTATGCAACTCTGGGCCGGGCGTGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCTAGGTGGGCGGATCACGAGGTCAGGAGATTG AAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGTCGGGTGTGGTGGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00673.hp1 others(54): Show HG00323.hp1 HG00544.hp1 HG00673.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG03225.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18906.hp2 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18960.hp1 NA18960.hp2 NA18969.hp1 NA18973.hp1 NA18979.hp1 NA18982.hp2 NA18993.hp2 NA19009.hp1 NA19077.hp1 NA19077.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0012 a0013	a0001c0001 a0001c0006 a0001c0027 others(6): Show a0001c0001 a0001c0006 a0001c0027 a0002c0002 a0002c0011 a0003c0003 a0003c0008 a0012c0017 a0013c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0006t0001 a0001c0027t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0011t0001 a0003c0003t0001 a0003c0003t0009 a0003c0008t0001 a0003c0008t0003 a0012c0017t0001 a0013c0037t0002	a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0032 others(54): Show a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0131 a0001c0001t0001g0236 a0001c0001t0001g0256 a0001c0001t0001g0300 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0157 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0222 a0001c0001t0002g0257 a0001c0001t0002g0262 a0001c0001t0003g0151 a0001c0001t0003g0258 a0001c0001t0006g0098 a0001c0001t0006g0217 a0001c0001t0006g0281 a0001c0001t0006g0282 a0001c0001t0008g0271 a0001c0001t0011g0223 a0001c0001t0011g0224 a0001c0001t0025g0035 a0001c0001t0026g0116 a0001c0001t0028g0037 a0001c0001t0033g0269 a0001c0001t0034g0328 a0001c0001t0040g0322 a0001c0006t0001g0069 a0001c0027t0003g0095 a0002c0002t0001g0100 a0002c0002t0002g0220 a0002c0002t0003g0070 a0002c0002t0003g0097 a0002c0002t0003g0101 a0002c0002t0003g0152 a0002c0011t0001g0091 a0003c0003t0001g0301 a0003c0003t0009g0123 a0003c0003t0009g0299 a0003c0008t0001g0018 a0003c0008t0003g0325 a0012c0017t0001g0287 a0013c0037t0002g0104	57	338	0.1686	-373	c.149 others(19): Show c.1495+1550_1495+1922del	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC6A18_chr5_1220381_1251189	1238269	CCTCAGGA others(366): Show CCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGA CATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGA GTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGC CTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGG TCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAG TGAGCCAGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCC TCAGGAAAGAGGTCAGGTTTGGAGTGAGCCAGGGGCCTCAGGAAAGAGGT CAGGTTTGGAGTGAGCCTGGAGGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0291 a0009c0011t0001g0291	1	456	0.0022	-373	c.732 others(15): Show c.732+248_732+620del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMYD3_chr1_245744347_246512279	246388631	AGGGGACC others(366): Show AGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTT GAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAAT CACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTC ATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTG TAGAAAGCATTCATTCTTGAAAAATCACCTCGAGGTTGAAGTCAGTTTCT GGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTG AAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATC ACCTCGAGGTTGAAGTCAGTTTCT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0102 a0002c0003t0002g0102	1	150	0.0067	-373	c.165 others(19): Show c.165-33910_165-33538del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1009235	ATGCTGGT others(366): Show ATGCTGGTTCTGATACTGGTGGGTCGTGTGTATGGCAGCCACACCTGTGT CCCCAGGAAGACTGCTGGTTCTGATACTGGTGTGGGTCGTGTGTATGGCA GCCACACCTGTGTCCCCAGGAAGACATGCTGGTTCTGATACTGGTGGGTC GTGTGTATGGCAGCCACACCTGTGTCCCCAGGAAGACATGCTGGTTCTGA TACTGGTGGGTCGTGTGTATGGCAGCCACACCTGTGTCCCCAGGAAGACA TGCTGGTTCTGATACTGGTGGGTCGTGTGTATGGCAGCCACACCTGTGTC CCCAGGAAGACTGCTGGTTCTGATACTGGTGTGGGTTGTGTGTATGGCAG CCACACCCATGTCCCCAGGAAGAC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	190	0.0053	-373	c.72+ others(17): Show c.72+58279_72+58651del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM63C_chr14_77176798_77264495	77220922	CCTCTCCC others(366): Show CCTCTCCCACCCACGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCTC GCCTCCCCTCCCACCCACGCCCCCTCCCACTCTCGCCTCCCCTCCCACTC TCGCCTCCCCTCCCACCCACGCCCCCTCACACTCACGCCTCCCCTCCCAC TCTCGCCTCCCCTCCCACTCATGCCCTGCCTCCCACTCACGCCTCCTCTC TCACTTACACCCCACCTCCCACTCACGCCTCCCCTCCCACTCATGCCCCA CCTCCCACTCACACCTCCTCTCTCATTCACACCCCGCCTCCCACTCACGC CTCCCCTCCCACTCACGCCCCACCTCCCACTCACGCCCCGCCTCCCACTC ACGCCCCCCTCCCACTCACGCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02257.hp2 HG02293.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18957.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19005.hp1 NA19009.hp2 NA19012.hp2 NA19060.hp2 NA19064.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0025 a0002c0009 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0014 a0001c0002t0035 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0030 a0001c0007t0001 a0001c0007t0002 a0001c0007t0041 a0001c0025t0004 a0002c0009t0001 a0002c0009t0007 a0008c0010t0001	a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0110 others(109): Show a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0110 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0236 a0001c0001t0001g0273 a0001c0001t0002g0001 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0081 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0141 a0001c0001t0002g0151 a0001c0001t0002g0184 a0001c0001t0002g0202 a0001c0001t0002g0234 a0001c0001t0002g0245 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0301 a0001c0001t0002g0317 a0001c0001t0003g0048 a0001c0001t0003g0090 a0001c0001t0003g0133 a0001c0001t0003g0139 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0246 a0001c0001t0004g0051 a0001c0001t0004g0118 a0001c0001t0004g0239 a0001c0001t0004g0275 a0001c0001t0005g0144 a0001c0001t0005g0175 a0001c0001t0005g0180 a0001c0001t0005g0277 a0001c0001t0005g0285 a0001c0001t0005g0294 a0001c0001t0006g0003 a0001c0001t0006g0072 a0001c0001t0006g0086 a0001c0001t0006g0142 a0001c0001t0006g0174 a0001c0001t0006g0182 a0001c0001t0007g0124 a0001c0001t0007g0140 a0001c0001t0008g0134 a0001c0001t0008g0310 a0001c0001t0014g0030 a0001c0001t0015g0020 a0001c0001t0015g0092 a0001c0001t0020g0080 a0001c0001t0028g0088 a0001c0001t0029g0089 a0001c0001t0031g0033 a0001c0001t0032g0052 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0104 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0291 a0001c0002t0001g0316 a0001c0002t0002g0021 a0001c0002t0002g0043 a0001c0002t0002g0093 a0001c0002t0002g0278 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0003g0084 a0001c0002t0003g0282 a0001c0002t0003g0288 a0001c0002t0005g0042 a0001c0002t0005g0116 a0001c0002t0005g0117 a0001c0002t0005g0171 a0001c0002t0005g0289 a0001c0002t0005g0292 a0001c0002t0006g0034 a0001c0002t0007g0272 a0001c0002t0014g0271 a0001c0002t0035g0276 a0001c0003t0001g0037 a0001c0003t0004g0219 a0001c0003t0005g0290 a0001c0003t0006g0221 a0001c0003t0006g0223 a0001c0003t0006g0300 a0001c0003t0030g0101 a0001c0007t0001g0274 a0001c0007t0002g0281 a0001c0007t0041g0044 a0001c0025t0004g0076 a0002c0009t0001g0162 a0002c0009t0007g0161 a0008c0010t0001g0293	114	322	0.3540	-373	c.312 others(16): Show c.312+837_312+1209del	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
U2SURP_chr3_142996570_143065725	143046914	ACCTCCCG others(366): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCTCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCTGGATGGGGCGGCTGGCCAGGCGGGGGACTGACCCCCCCACCTCC CTCCCTGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC AGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCA GGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCTG GCGGGGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0262 a0001c0001t0004g0262	1	378	0.0027	-373	c.254 others(19): Show c.2544+3678_2545-3613del	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ZNF516_chr18_76352682_76500242	76392956	AGGCAGGT others(366): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0124 a0001c0001t0124	a0001c0001t0124g0075 a0001c0001t0124g0075	1	346	0.0029	-373	c.181 others(21): Show c.1811-13026_1811-12654del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394357	AGGTGGTC others(366): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp2 HG02886.hp1 HG00639.hp2 HG02145.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0108 a0001c0001t0191 a0001c0004t0186 a0001c0001t0108 a0001c0001t0191 a0001c0004t0186	a0001c0001t0108g0106 a0001c0001t0191g0015 a0001c0004t0186g0124 a0001c0001t0108g0106 a0001c0001t0191g0015 a0001c0004t0186g0124	3	346	0.0087	-373	c.181 others(21): Show c.1811-14427_1811-14055del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
AHRR_chr5_316714_443285	356538	GGAGTGGA others(365): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGAGGAAGAGCGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0017 a0012c0018t0017	a0012c0018t0017g0265 a0012c0018t0017g0265	1	268	0.0037	-372	c.244 others(17): Show c.244+2689_244+3060del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357852	CTCAGTCA others(365): Show CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCG GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGCGAGTGGAGGCCG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp1 HG01081.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0258 a0001c0001t0003g0260	2	268	0.0075	-372	c.244 others(17): Show c.244+3991_244+4362del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358088	CGAGTGGA others(365): Show CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCGTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGA AGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAGTC AGCGACTGGGGAAGAGCGCCCGG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18945.hp2 NA18952.hp1 others(2): Show HG02040.hp2 NA18945.hp2 NA18952.hp1 NA18960.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0114 others(2): Show a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0114 a0001c0001t0002g0117 a0002c0002t0001g0131	5	268	0.0187	-372	c.244 others(17): Show c.244+4225_244+4596del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358275	GAGTGGAG others(365): Show GAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGG AAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGT CAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTC CACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTC AGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGA GTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAA GAGCGCCCGGGAGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCA GCGACTGAGGAAGAGCGCCCGCA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0095 a0002c0002t0006g0095	1	268	0.0037	-372	c.244 others(17): Show c.244+4425_244+4796del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358570	AGGAAGAG others(365): Show AGGAAGAGCGCCCGGGAGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGAGGAAGAGCGCCCGCAAGTGGAGGCCCTCAGTCACGGA GTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCC CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCG CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02109.hp2 HG02145.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0021 a0006c0006t0021	a0006c0006t0021g0231 a0006c0006t0021g0234 a0006c0006t0021g0231 a0006c0006t0021g0234	2	268	0.0075	-372	c.244 others(17): Show c.244+4673_244+5044del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10638978	GGGTGACG others(365): Show GGGTGACGCGGAGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGC GGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGAC GCGGAGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATG TTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGT TGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGG GTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGG CGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGT GGGGTTGCGCGGCGATGTTAGGC	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	324	0.0031	-372	c.637 others(16): Show c.637+840_637+1211del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639172	CGGCGTTG others(365): Show CGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGT TAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTT GCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGG TGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGC GATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCG GGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTA GCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGC GCGGCGATGTTAGGCGGTGACGT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	324	0.0031	-372	c.637 others(17): Show c.637+1007_637+1378del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ASAP1_chr8_130047104_130448674	130049229	GGGCAGAG others(365): Show GGGCAGAGGGGAACATATGGGGGGCAGAGGGGAACACATGGGGGGCAGAG GAGAACACATGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACA TGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCA GAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAA CACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGG GCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGG GAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATG GGGGGCAGAGGGGAACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 NA18947.hp1 HG00597.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0136 a0002c0002t0003g0197 a0002c0002t0003g0136 a0002c0002t0003g0197	2	308	0.0065	-372	c.51 others(11): Show c.5130_*5501del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2874		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049594	CACATGGA others(365): Show CACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGG GGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGG GGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACAT GGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGGCAG AGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGG CAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAG AACACATGGGGGCAGAGGGGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0129 a0002c0002t0003g0129	1	308	0.0033	-372	c.47 others(11): Show c.4765_*5136del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2509		chr8	TogoVar
ATP11A_chr13_112685038_112892168	112750180	CCCCTTCA others(365): Show CCCCTTCAGCCTCTCGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCATC CTCCCACGTGGGGACACGCCTGCTGAAGGATGCGGGGTTGAGTCCCCTTC AGCCTCTCGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCATCCTCCCAC GTGGGGACACGCCTGCTGAAGGATGCGGGTTTGAATCCCCTTCAGCCTCT CGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCATCCTCCCACGTGGGGA CACGCCTGCTGAAGGACGCGGGGTTGAATCCCTCTTCAGCCTCTCGTGAA TTTCTGTCTTAGGGAAGGAGAGTCTCCATCCTCCCACGTGGGGACACGCC TGCTGAAGGATGCGGGTTTGAAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	254	0.0039	-372	c.40- others(17): Show c.40-34951_40-34580del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL18A1_chr21_45400165_45518720	45438012	ACACACTC others(365): Show ACACACTCACTCACACACAGACACACAGGCACTCTCCTGCACACACTCAC ACTCACACTCAGACAAGCACTCTCCTGCACACACTCACACTCACACTCAG ACACACAGGCACTCTCCTGCACACACACACTCACTCAGACACAGGCACTC TCCTGCATACACACACTCACACTCAGACACACAGGCACTCTCCTGCACAC ACACACTCACACACTCAGACACACAGGCACTCTCCTGCACACACACACAC TCACACTCAGACACACAGGCACTCTCCTGCACACACACACACTCAGACAC ACAGGCACTCTCCTGCACACACACACACTCACACACTCAGACACACAGGC ACTCTCCTGCACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03834.hp2 NA18954.hp2 HG02165.hp2 HG03834.hp2 NA18954.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0005t0007 a0001c0004t0001 a0001c0005t0007	a0001c0004t0001g0112 a0001c0005t0007g0262 a0001c0005t0007g0263 a0001c0004t0001g0112 a0001c0005t0007g0262 a0001c0005t0007g0263	3	292	0.0103	-372	c.107 others(19): Show c.107-30224_107-29853del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE7_chr16_89570758_89602246	89587745	CCCCCGTG others(365): Show CCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATA CACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCC CCGTGTCACCCACAGATACACGG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG04115.hp2 HG03453.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0005 a0001c0001t0001 a0001c0008t0005	a0001c0001t0001g0108 a0001c0008t0005g0014 a0001c0001t0001g0108 a0001c0008t0005g0014	2	348	0.0058	-372	c.927 others(15): Show c.927+648_928-554del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587782	CCCCCGTG others(365): Show CCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTG TCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCC CGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCAC AGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0160 a0001c0007t0006g0160	1	348	0.0029	-372	c.927 others(15): Show c.927+685_928-517del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DLGAP2_chr8_732628_1713476	1643052	CGACCCCG others(365): Show CGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCAC CTGTGTCACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCCTCGACCCC GCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTC ACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCAGCC CTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCG ACCCCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCGGCCCTCACCT GTGTCACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGC CGGCCCTCACCTGTGTCACCCTG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	-372	c.181 others(21): Show c.1810+10009_1810+10380del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643653	TCCTCACC others(365): Show TCCTCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCT CGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCAC CTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCC GCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTC ACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGTC CTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCG ACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCT GTGTCACCCTCGACCCCGCCGGC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-372	c.181 others(21): Show c.1810+10627_1810+10998del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
FRYL_chr4_48492357_48785279	48659376	AGAAGAAG others(365): Show AGAAGAAGGAGAAGGAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGAGGAAGAGGAAGAGGAAGAGGAAGAGGGAGAAGAGGAAGAGGGAGAA GAGGAAGAGGGAGAAGAAGAAGAGGGAGAAGAAGAAGAGGGAGAAGAGGG AGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAG GAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAA GAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGG AGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAG GAGAAGAGGGAGAAGGAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0230 a0004c0007t0001g0230	1	282	0.0036	-372	c.-81 others(19): Show c.-81+24925_-80-24887del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
HDHD5_chr22_17132520_17164277	17146635	CTTCGATC others(365): Show CTTCGATCACACGTCATCGCACACGCCCCACACCTGTGACGCCCTCCTGT GAGCTTACCGGCCTTCAATCACACATCATCGCACACGCCCCACACCTGTG ACGCCCTCCTGTGAGCTTACCGGCCTTCAATCACACGTCATCGCACACGC CCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGC CATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCCT TCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGA GCTTACCGGCCTTCGATCACACGCCATCGCACACGCCCCACACCTGTGAC GCCCTCCTGTGAGCTTACCGGCA	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	422	0.0024	-372	c.443 others(17): Show c.443+1441_444-1519del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7			chr22	TogoVar
IL4_chr5_132668989_132687678	132672233	ACCACTGC others(365): Show ACCACTGCACTCCAGCCTGGGTGACAGAGTATGGGGGCAGGGGGTGGTGA GGGGGGGGCGGGGAAGTGGAACAGAGGCAAAACCTTAGCAACACACATTT TTAGATGATCTTCCAGAATAAATTCATAGGGAGGCCCAGGCACAGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAG GTCAGGAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGTGCCTGTAGTCCCA GCTACTCGGGGAGGCTGAGGCAGGAGAACGGCATGAACCCAGGAGGCGGA GCTTGCAGTGAACTAAGATCACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01255.hp2 HG01517.hp1 others(6): Show HG00642.hp2 HG01255.hp2 HG01517.hp1 HG01943.hp2 HG01993.hp1 HG03704.hp1 HG03942.hp2 NA18957.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0011 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0052	9	422	0.0213	-372	c.-18 others(11): Show c.-1817_-1446del	IL4	ENSG00000113520.11	transcript	ENST00000231449.7	protein_coding		1755		chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132160625	TGGGGGGG others(365): Show TGGGGGGGGCCTCTTCCTGTGTGATGCTGGTGGGGGTCTACTTCTATGTC TTACTGGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCTGT GTGATGCTGGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGTCTCTTCCTG TGTGATGCTGGGGGGGGGGTCTCCCTGTGTGATGCTGGGGGGGGCCTCTT CCTGTGTGATGCTGGTGGGGGTCTACTTCTATGTCTTACTGGGGGGGGCC TCTCCCTGTGTGATGCAGGCGGTGGCCTCTTCCTGTGTGATGCTAGGGGG TCTCTTCCTGTGTGATGCTGGGTGGGCCTCTCCCTGTGTGATGCTGGGTG GGCCTCTCCCTGTGTGATGCTGG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0062 a0001c0022t0002g0062	1	158	0.0063	-372	c.222 others(19): Show c.2221-2577_2221-2206del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	960742	CAGACTCA others(365): Show CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAACACGGGATCACGACCCAGA CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGACA CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG01099.hp2 others(48): Show HG00544.hp2 HG00558.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01192.hp2 HG01891.hp1 HG01891.hp2 HG02004.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp2 HG02148.hp2 HG02257.hp2 HG02486.hp2 HG02683.hp2 HG02896.hp1 HG03130.hp1 HG03225.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG06807.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18966.hp2 NA18973.hp1 NA18975.hp1 NA18982.hp1 NA18990.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19064.hp2 NA19068.hp1 NA19077.hp1 NA19088.hp1 NA19091.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0008	a0001c0002 a0001c0004 a0001c0005 others(12): Show a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0012 a0001c0013 a0001c0041 a0001c0044 a0001c0067 a0002c0016 a0002c0017 a0004c0043 a0005c0019 a0007c0046 a0008c0045	a0001c0002t0001 a0001c0004t0001 a0001c0004t0005 others(15): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0005 a0001c0005t0001 a0001c0008t0001 a0001c0008t0002 a0001c0012t0001 a0001c0013t0001 a0001c0013t0014 a0001c0041t0001 a0001c0044t0001 a0001c0067t0001 a0002c0016t0001 a0002c0017t0001 a0004c0043t0003 a0005c0019t0001 a0007c0046t0004 a0008c0045t0003	a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 others(48): Show a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0093 a0001c0004t0001g0061 a0001c0004t0001g0065 a0001c0004t0001g0067 a0001c0004t0001g0075 a0001c0004t0001g0077 a0001c0004t0001g0087 a0001c0004t0001g0089 a0001c0004t0005g0078 a0001c0005t0001g0037 a0001c0005t0001g0047 a0001c0005t0001g0080 a0001c0008t0001g0023 a0001c0008t0001g0069 a0001c0008t0001g0074 a0001c0008t0001g0079 a0001c0008t0001g0090 a0001c0008t0002g0071 a0001c0012t0001g0094 a0001c0013t0001g0043 a0001c0013t0014g0022 a0001c0041t0001g0088 a0001c0044t0001g0034 a0001c0067t0001g0056 a0002c0016t0001g0068 a0002c0016t0001g0070 a0002c0016t0001g0076 a0002c0017t0001g0038 a0002c0017t0001g0096 a0004c0043t0003g0119 a0005c0019t0001g0060 a0007c0046t0004g0036 a0008c0045t0003g0072	51	294	0.1735	-372	c.194 others(17): Show c.194-6448_194-6077del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
PARD3B_chr2_204540475_205625162	204648652	AATATATT others(365): Show AATATATTTATAATATATATCATATAAATAATATATATTTATAATATATA TCATATAAATAATATATATTTATAATAGATATCATATAAATAATATATAT TTATAATAGATATCATATAAATAATATATATTTATAATAGATATCATATA AATAATATATATTTATAATAGATATCATATAAATAATATATATTTATAAT ATATATCATATAAATAATATATATTTATAATATATATCATATAAATAATA TATATTTATAATATATATCATATAAATAATATATATTTATAATAGATATC ATATAAATAATATATATTTATAATAGATATCATATAAATAATATATATTT ATAATAGATATCATATAAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0005 a0002c0001t0002g0005	1	54	0.0185	-372	c.121 others(19): Show c.121-37461_121-37090del	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PDGFC_chr4_156755454_156976799	156759543	GCACCGAG others(365): Show GCACCGAGGGTAACCAAACCATGGTCAATGCACCTGGAGACAGGGATGCA CCGAGGGACCAAACCACGGTCAATGCACCTGGAGACAGGGATGCACCGAG GGTAACCAAACCACGTTCAATGCGCCTGGAGACAGGGATGCACCGAGGGT AACCAAACCACGGTCAATGCACCTGGAGACAGGGATACACCGAGGGTAAC CAAACCATAGTCAATGCACCTGGAGACAGGGATGCACCGAGGGTAACCAA ACCATGGTCAATGCACCTGGAGACAGGGATGCACCGAGGGACCAAACCAC GGTCAATGCACCTAGAGACAGGGATACACCGAGGGTAACCAAACCATAGT CAATGCACCTGGAGACAGGGATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02922.hp2 others(3): Show HG02258.hp2 HG02486.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 others(3): Show a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0137 a0001c0001t0004g0170 a0001c0001t0004g0176	6	208	0.0289	-372	c.31 others(11): Show c.3175_*3546del	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding		910		chr4	TogoVar

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