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	status	chr	external
PLXDC2_chr10_19811432_20294856	20126435	AACACACG others(273): Show AACACACGTTATATATGTATATACAACACACGTTATATATGTATATATAA CACACACGTTATATATGTATATATAACACACACGTTATATATGTATATAT AACACACACGTTATATATGTATATATAACACACACGTTATATATGTATAT ATAACACACACGTTATATATGTATATATAACACACACGTTATATATGTAT ATATAACACACACGTTATATATGTATATATAACACACGTTATATATGTAT ATATAACACACGTTATATATGTATATATAAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03209.hp2 HG01109.hp2 HG03209.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0044 a0006c0007t0110 a0002c0002t0044 a0006c0007t0110	a0002c0002t0044g0006 a0006c0007t0110g0054 a0002c0002t0044g0006 a0006c0007t0110g0054	2	180	0.0111	-280	c.542 others(19): Show c.542-16837_542-16558del	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13	INFO_REALIGN_3_PRIME	chr10	TogoVar
PRDM15_chr21_41793225_41884344	41806054	CCACCATC others(273): Show CCACCATCACCATCACCACCACCATCACCACCACCACCATCACCACCACC ATCACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCAC CATCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCA TCACCATCACCATCACCATCACCACCATCACTACCACCATCACCACCACC ACCATCACCACCACCCATCACCACCACCACCATCACCATCACCACCACCA TCACCACCACCACCATCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0005 a0001c0040t0005	a0001c0040t0005g0105 a0001c0040t0005g0105	1	406	0.0025	-280	c.265 others(19): Show c.2653-1720_2653-1441del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23		chr21	TogoVar
PRDM15_chr21_41793225_41884344	41806138	TCACCACC others(273): Show TCACCACCACCACCACCATCACCATCACCACCACCATCACCACCACCACC ATCACCACCACCACCATCACCATCACCATCACCATCACCACCATCACTAC CACCATCACCACCACCACCATCACCACCACCCATCACCACCACCACCATC ACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCATCAC CATCACCACCACCATCACCACCACCACCATCACTACCACCATCACCACCA CCACCATCACCACCACCACCACCATCACCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00099.hp2 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0160 a0001c0001t0017g0161 a0001c0001t0017g0160 a0001c0001t0017g0161	2	406	0.0049	-280	c.265 others(19): Show c.2653-1804_2653-1525del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23		chr21	TogoVar
PRIMA1_chr14_93713298_93793485	93722001	ATGGTGCT others(273): Show ATGGTGCTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGATGGTGGTAG TGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGG TAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGT GGTAGTGGTGATGCTGGTGGTAATGGGGTGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0282 a0001c0001t0029g0282	1	397	0.0025	-280	c.360 others(15): Show c.360-735_360-456del	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4		chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722007	CTAGTGGT others(273): Show CTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTG GTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG TGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGA TGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGG GGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGT GGTGATGCTGGTGGTAATGGGGTGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp1 HG03225.hp2 others(1): Show HG02886.hp2 HG02965.hp1 HG03225.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0001t0033 a0001c0003t0014 a0001c0001t0014 a0001c0001t0033 a0001c0003t0014	a0001c0001t0014g0340 a0001c0001t0033g0090 a0001c0003t0014g0199 others(1): Show a0001c0001t0014g0340 a0001c0001t0033g0090 a0001c0003t0014g0199 a0001c0003t0014g0291	4	397	0.0101	-280	c.360 others(15): Show c.360-741_360-462del	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4		chr14	TogoVar
RAB31_chr18_9703301_9867551	9815740	TAGATGCT others(273): Show TAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCC ATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCAT CCGTGGAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGT CCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGT GTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGAT GCTGTCCTCCATCCCTGAGTGTCATCCGTGG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA19083.hp2 HG01123.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0002g0168 a0001c0001t0001g0031 a0001c0001t0002g0168	2	322	0.0062	-280	c.380 others(15): Show c.380+623_380+902del	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6	INFO_REALIGN_3_PRIME	chr18	TogoVar
RPH3AL_chr17_207389_357807	273144	AGCGAGGG others(273): Show AGCGAGGGTGATGTCAGGGTGAGACCCCAGCGCGGGTGACGTCAGGGAGA GACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAGGGCGACGTCA GGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTG ACGTCAGGGAGAGACCCCAGCGAGGGTGATGTCAGGGAGAGACCCCAGCG AGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACC CCAGCGAGGGTGACGTCAGGGTGAGACCCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(6): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG01070.hp1 HG01167.hp2 NA19003.hp1 NA19074.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016	a0001c0001t0001g0110 a0001c0001t0002g0010 a0001c0001t0008g0042 others(6): Show a0001c0001t0001g0110 a0001c0001t0002g0010 a0001c0001t0008g0042 a0001c0001t0008g0130 a0001c0001t0009g0066 a0001c0001t0009g0094 a0001c0001t0012g0006 a0001c0001t0016g0082 a0001c0001t0016g0093	9	133	0.0677	-280	c.438 others(17): Show c.438+8344_438+8623del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9		chr17	TogoVar
SAMD11_chr1_918923_949574	934517	GGGCGGCT others(273): Show GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGG CGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGG GGAGGCGGCTGCGTTACAGGTGGGCAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	434	0.0023	-280	c.843 others(16): Show c.843-1223_843-944del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280996	TGTCACCT others(273): Show TGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGT CACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCA CCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCT CCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCC TTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTG GCCACCCTTCTGTCATCTCCTCCTCAGCTAC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0100 a0002c0002t0013g0100	1	280	0.0036	-280	c.484 others(18): Show c.484+9770_484+10049del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21		chr22	TogoVar
SIPA1L2_chr1_232392965_232635133	232563941	TTTGTTTT others(273): Show TTTGTTTTTTTTTTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGT GATCTTGGCTCGCTGCAACTTCTTACAGGCATCAGCCACTGCTCCTGGCC AAGGAAGGTTTCATCATGTTGGCCAGACTGAACGACGAAGGTTGTTTTTT TTTTTTTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTT TCATCATGTTGGCCAGACTGAACGACAAAGG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp2 HG02055.hp1 others(15): Show HG01261.hp2 HG01884.hp2 HG02055.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0055 a0002c0008 a0002c0012 a0002c0033 a0002c0038	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0009 a0001c0003t0027 a0001c0005t0001 a0001c0005t0003 a0001c0055t0009 a0002c0008t0004 a0002c0012t0003 a0002c0033t0011 a0002c0038t0001	a0001c0001t0001g0087 a0001c0001t0010g0285 a0001c0002t0001g0084 others(15): Show a0001c0001t0001g0087 a0001c0001t0010g0285 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0106 a0001c0003t0004g0103 a0001c0003t0007g0002 a0001c0003t0009g0165 a0001c0003t0009g0166 a0001c0003t0027g0291 a0001c0005t0001g0154 a0001c0005t0003g0287 a0001c0055t0009g0169 a0002c0008t0004g0090 a0002c0008t0004g0206 a0002c0012t0003g0284 a0002c0033t0011g0007 a0002c0038t0001g0098	18	292	0.0616	-280	c.-27 others(20): Show c.-270+9953_-270+10232del	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22		chr1	TogoVar
SLC17A9_chr20_62947709_62974585	62960987	CCAGGGTG others(273): Show CCAGGGTGGGCCTATCAGCTGGCTGGAGGGCGGCTTGTCCTCAGGGTGGG CCTATCAGCTGGCTGGAGGGCGGCTTGTCCTCACGGTGGGCCTATCAGCT GGCTGGAGGGCGGCTTGTCCTCAGGGTGGGCCTATCAGCTGGCTGGAGGG CGGCTTGTCCTCAGGGTGGGCCTATCAGCTGGCTGGAGGGCGGCTTGTCC TCAGGGTGGGCCTATCAGCTGGCTGGAGGGCGGCTTGTCCTCAGGGTGGG CCTATCAGCTGGCTGGAGGGCGGCTTGTCCT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18952.hp1 NA19012.hp2 others(1): Show NA18947.hp1 NA18952.hp1 NA19012.hp2 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0105 a0001c0003t0002g0165 a0001c0003t0002g0039 a0001c0003t0002g0105 a0001c0003t0002g0165	4	432	0.0093	-280	c.497 others(15): Show c.497+467_497+746del	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding	4/12	INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A3_chr5_465456_529449	495377	GCTCCCCG others(273): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATC GCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCAC GCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCG CCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTC CCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCC CCGCGCCATCGCCGACCCTCCCCACGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02622.hp2 HG02965.hp1 others(3): Show HG00735.hp2 HG02622.hp2 HG02965.hp1 HG02965.hp2 HG03195.hp1 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0008 a0002c0029 others(2): Show a0001c0003 a0001c0008 a0002c0029 a0003c0014 a0003c0032	a0001c0003t0008 a0001c0008t0018 a0002c0029t0002 others(2): Show a0001c0003t0008 a0001c0008t0018 a0002c0029t0002 a0003c0014t0001 a0003c0032t0007	a0001c0003t0008g0039 a0001c0008t0018g0124 a0002c0029t0002g0108 others(3): Show a0001c0003t0008g0039 a0001c0008t0018g0124 a0002c0029t0002g0108 a0003c0014t0001g0160 a0003c0014t0001g0162 a0003c0032t0007g0161	6	218	0.0275	-280	c.212 others(17): Show c.212-3586_212-3307del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16		chr5	TogoVar
SMOX_chr20_4143828_4192727	4185651	CACACACA others(273): Show CACACACACACAAATAAATAAATAAATAAAAAGAAATGCAGATTCTCAGC CTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCA GGCATGGTGGTGCACACCTGTAGTTCTAGCTACTTGGGAGGCTGAGGCAT GAGAATTGCTTGAAGCTGGGAGGCGGAGGTTGCAGTGAGTTGAGATCATG CCATTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAACAAA AACCAAAAAACAACAACCCCTGGCGCCCTAA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0329 a0001c0001t0002g0329	1	428	0.0023	-280	c.153 others(19): Show c.1531-1607_1531-1328del	SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	6/6	INFO_REALIGN_3_PRIME	chr20	TogoVar
SMTNL2_chr17_4579529_4613319	4595899	AGTGTGGC others(273): Show AGTGTGGCCCAAGCGTGGTATTGATGTCTGCTGTGTGCAGGGTGTGGCCC AAGCGTGGTATTGATGTCTGCTGTGTGCAGGGTGTGGCCCACGCGTGGTA TTGATGCCTGCTGTGTGCAGGGTGTGGCCCAAGCGTGGTATTGATGTCTG CTGTGTGCAGGGTGTGGCCCACGCGTGGTATTGATGCCTGCTGTGTGCAG GGTGTGGCCCAAGCGTGGTATTGATGTCTGCTGTGTGCAGGGTGTGGCCC AAGCGTGGTATTGATGCCTGCTGTGTGCAGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG03098.hp2 HG02572.hp1 HG02723.hp1 HG03098.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0137 a0003c0009t0001g0140 a0003c0009t0001g0141 a0003c0009t0001g0137 a0003c0009t0001g0140 a0003c0009t0001g0141	3	442	0.0068	-280	c.989 others(15): Show c.989+598_990-656del	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	5/7	INFO_REALIGN_3_PRIME	chr17	TogoVar
SNTG2_chr2_945849_1372613	1222457	AGCTGGAG others(273): Show AGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGG CGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAA AGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGT GCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTG TCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAG TGATGGAGTGCGTCTCCCTGTCCTGCCTGCT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG03209.hp1 HG02572.hp1 HG02630.hp1 HG03209.hp1	a0004 a0009 a0004 a0009	a0004c0004 a0009c0013 a0004c0004 a0009c0013	a0004c0004t0001 a0009c0013t0001 a0004c0004t0001 a0009c0013t0001	a0004c0004t0001g0180 a0004c0004t0001g0181 a0009c0013t0001g0042 a0004c0004t0001g0180 a0004c0004t0001g0181 a0009c0013t0001g0042	3	190	0.0158	-280	c.719 others(19): Show c.719+13485_719+13764del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16	INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX29_chr16_11971734_12579287	12261166	GGCTGGAG others(273): Show GGCTGGAGTGAGTGTTTGCTGAGCTCCGGTCTGTGCGTGCGTCCCTGGCT GGAGTGAGTGTTTGCTGAGCTCGGGTCTGTGTGCGCACCCCCGGGTGAAG TGAGTGTTTGCTGAGCTCGGGTCTGTGCGCGCGTCCCCGGCTGGAGTAAG TGTTTGCTCTGAGCTCCGGTCTGTGCGTGCGTCCCTGGCTGGAGTGAGTG TTTGCTGAGCTCGGGTCTGTGCACGTGTCCCCGGCTGGAGTAAGTGTTTG CTCTGAGCTCCGGTCTGTGCACGTGTCCCCC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01175.hp1 others(8): Show HG00733.hp2 HG01109.hp1 HG01175.hp1 HG01496.hp1 HG02015.hp2 HG02630.hp1 HG02886.hp2 HG02896.hp2 HG03579.hp1 NA18522.hp2 NA18990.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0020 a0002c0005 a0003c0008 a0007c0016	a0001c0001t0017 a0001c0002t0067 a0001c0002t0069 others(8): Show a0001c0001t0017 a0001c0002t0067 a0001c0002t0069 a0001c0002t0075 a0001c0002t0109 a0001c0003t0001 a0001c0004t0005 a0001c0020t0010 a0002c0005t0039 a0003c0008t0010 a0007c0016t0108	a0001c0001t0017g0025 a0001c0002t0067g0059 a0001c0002t0069g0017 others(8): Show a0001c0001t0017g0025 a0001c0002t0067g0059 a0001c0002t0069g0017 a0001c0002t0075g0129 a0001c0002t0109g0036 a0001c0003t0001g0158 a0001c0004t0005g0171 a0001c0020t0010g0167 a0002c0005t0039g0013 a0003c0008t0010g0145 a0007c0016t0108g0049	11	176	0.0625	-280	c.167 others(21): Show c.1679-16751_1679-16472del	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20	INFO_REALIGN_3_PRIME	chr16	TogoVar
SOX5_chr12_23524504_23954670	23837531	ATATATTT others(273): Show ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGCTATATTTATATTTATATAATATATAAGCTAT ATTTATATTTATATAATATATAAGCTATATTTATATTTATATAATATATA AGCTATATTTATATTTATATAATATATAAGC	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0070 a0001c0002t0051g0070	1	212	0.0047	-280	c.481 others(17): Show c.481+8172_481+8451del	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14		chr12	TogoVar
STAT3_chr17_42308324_42393442	42337881	TGACCTGA others(273): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19056.hp1 NA18949.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0034 a0001c0001t0009g0109 a0001c0001t0002g0034 a0001c0001t0009g0109	2	302	0.0066	-280	c.551 others(14): Show c.551-304_551-25del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23		chr17	TogoVar
STAT3_chr17_42308324_42393442	42337981	GGACCTGA others(273): Show GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02486.hp2 HG02523.hp2 others(11): Show HG02040.hp1 HG02486.hp2 HG02523.hp2 HG02922.hp1 HG03139.hp1 HG03490.hp2 HG03688.hp2 HG03704.hp1 NA18906.hp2 NA18949.hp1 NA19005.hp1 NA19064.hp2 NA19082.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0022	a0001c0001t0001g0044 a0001c0001t0001g0091 a0001c0001t0002g0060 others(11): Show a0001c0001t0001g0044 a0001c0001t0001g0091 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0102 a0001c0001t0002g0111 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0017g0072 a0001c0001t0022g0041	14	302	0.0464	-280	c.551 others(15): Show c.551-404_551-125del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23		chr17	TogoVar
STAT3_chr17_42308324_42393442	42338101	GGACCTGA others(273): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03195.hp2 NA18959.hp1 others(3): Show HG02071.hp2 HG03195.hp2 NA18959.hp1 NA18984.hp2 NA19004.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0193 a0001c0001t0002g0043 a0001c0001t0002g0046 others(3): Show a0001c0001t0001g0193 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0113 a0001c0001t0005g0028 a0001c0001t0012g0040	6	302	0.0199	-280	c.550 others(15): Show c.550+350_551-245del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23		chr17	TogoVar
STAT3_chr17_42308324_42393442	42338241	GGACCTGA others(273): Show GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	302	0.0033	-280	c.550 others(15): Show c.550+210_551-385del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23		chr17	TogoVar
STAT3_chr17_42308324_42393442	42338261	TGACCTGA others(273): Show TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp2 others(46): Show HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00621.hp2 HG00735.hp1 HG01167.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp2 HG02273.hp1 HG02970.hp2 HG03471.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18950.hp1 NA18953.hp1 NA18956.hp1 NA18972.hp1 NA18974.hp2 NA18997.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp2 NA19011.hp2 NA19043.hp1 NA19056.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19082.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0028 a0001c0001t0034	a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 others(46): Show a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0254 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0002g0288 a0001c0001t0005g0159 a0001c0001t0005g0181 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0006g0158 a0001c0001t0006g0160 a0001c0001t0006g0190 a0001c0001t0006g0234 a0001c0001t0006g0253 a0001c0001t0006g0255 a0001c0001t0006g0256 a0001c0001t0006g0258 a0001c0001t0006g0273 a0001c0001t0008g0237 a0001c0001t0011g0222 a0001c0001t0028g0260 a0001c0001t0034g0177	49	302	0.1623	-280	c.550 others(15): Show c.550+190_551-405del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23		chr17	TogoVar
SULT4A1_chr22_43819509_43867513	43834496	ACGCCCCC others(273): Show ACGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAG CTTCCCGCAGCCACACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCGTC CCTGTGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCAC CGCGGCCCTGAGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGC CCCCACCGCTGCCCTGAGCTTCCCGCACCCACACCGCGTCCCTGTGCTTC CCGCGCCCCCACCGCGTCCCTGTGCTTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp2 others(32): Show HG00140.hp1 HG00323.hp1 HG00639.hp2 HG00733.hp2 HG01175.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp2 HG02004.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02683.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG06807.hp2 NA18954.hp2 NA19043.hp1 NA19240.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0027 a0001c0001t0004 a0001c0001t0006 a0001c0001t0027	a0001c0001t0004g0003 a0001c0001t0004g0011 a0001c0001t0004g0029 others(18): Show a0001c0001t0004g0003 a0001c0001t0004g0011 a0001c0001t0004g0029 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0006g0035 a0001c0001t0006g0128 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0027g0216	35	386	0.0907	-280	c.509 others(16): Show c.509-1042_509-763del	SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6		chr22	TogoVar
TERT_chr5_1248167_1300068	1272575	ACATCAGA others(273): Show ACATCAGACCCTACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0375 a0001c0001t0002g0375	1	392	0.0026	-280	c.228 others(17): Show c.2287-575_2287-296del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15		chr5	TogoVar
TMCO1_chr1_165721795_165773868	165761972	AAACATTT others(273): Show AAACATTTTTATTAAAATGTTATAAGGATAACATTTTTATTAAAATGTTA TAAGGATAACATTTTTATTAAAATGTTATAAGGATAACATTTTTATTAAA ATGTTATAAGGATAACATTTTTATTAAAATGTTATAAGGATAACATTTTT ATTAAAATGTTATAAGGATAACATTTTTATTAAAATGTTATAAGGATAAC ATTTTTATTAAAATGTTATAAGGATAACATTTTTATTAAAATGTTATAAG GATAACATTTTTATTAAAATGTTATAAGGAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0009 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(327): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0002g0016 a0001c0001t0002g0257 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0008g0027 a0001c0001t0010g0156 a0001c0001t0011g0177 a0001c0001t0012g0112 a0001c0001t0013g0089 a0001c0001t0014g0300 a0001c0001t0015g0080 a0001c0002t0001g0060 a0001c0002t0001g0130 a0001c0002t0001g0152 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0193 a0001c0002t0009g0062 a0001c0003t0001g0319	348	374	0.9305	-280	c.149 others(17): Show c.149-2668_149-2389del	TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding	2/6		chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129855420	GGGGGAAC others(273): Show GGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGG GTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGCTGCCCTTGTAACAG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGG AACGGGATGGGTGCCCTTGTAACAGAGTCCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0086 a0001c0001t0022g0086	1	94	0.0106	-280	c.79+ others(17): Show c.79+47561_79+47840del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8		chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129856113	AGAGTCCG others(273): Show AGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAAC GGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTT GTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGG GGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGT CCGGGGGAACGGGATGGGTGCCCTTGTAACG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0077 a0001c0002t0004g0077	1	94	0.0106	-280	c.79+ others(17): Show c.79+46868_79+47147del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8		chr12	TogoVar
WDFY3_chr4_84664597_84971690	84872157	TCTAGGGG others(273): Show TCTAGGGGAACCATTAAGTTTAATATGCTGCCAGGCGCGGTGGCTCATTC CTGAAATCTCAGCAATTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAG GAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCATCTATACTAAAA ATATAAAAATTAGCCAGGCGTGGTGGAGGGCGCCTATGGTCCCAGCTACT TGGGAGACTGAAGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCA GTGAGCCGAGATTGCCCCACTGCACTCCAGC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	242	0.0041	-280	c.-31 others(19): Show c.-31-11815_-31-11536del	WDFY3	ENSG00000163625.17	transcript	ENST00000295888.9	protein_coding	3/67		chr4	TogoVar
ZNF707_chr8_143679479_143700385	143692401	GTCCCCGG others(273): Show GTCCCCGGGTGTGTGGAGCCCCCGGCTGGGGAGGTGTCGGATCCCCGGGT GTGTGGAGCCCCCGGCTGGGGAGGTGTCGGATCCCCGGGTGTGTGGAGCC CCCGGCTGGGGAGGTGTCGGATCCCCGGGTGTGTGGAGCCCCCGGCTGGG GAGGTGTTGCATCCCCGGGTGTGTGGAGCCCCCGGCTGGGGAGGTGTCGG ATCCCCGGGTGTGTGGAGCCCCCGGCTGGGGAGGTGTCGGATCCCCGGGT GTGTGGAGCCCCCGGCTGGGGAGGTGTCGCA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18906.hp1 HG03195.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	2	435	0.0046	-280	c.256 others(15): Show c.256+767_257-912del	ZNF707	ENSG00000181135.16	transcript	ENST00000358656.9	protein_coding	5/5	INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF835_chr19_56656980_56676757	56669626	CCAGGAGT others(273): Show CCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCC TCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCA TAAATGTACTTGGGGGTCTACCAGGAGTCCTCCATTAGCATAAATGTACT TGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTA TCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTACCAGGAGTCC TCCATTAGCATAAATGTACTTGGGGGCCTAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0024 a0003c0003t0024	a0003c0003t0024g0097 a0003c0003t0024g0097	1	450	0.0022	-280	c.-48 others(17): Show c.-48+1670_-48+1949del	ZNF835	ENSG00000127903.14	transcript	ENST00000537055.4	protein_coding	1/1		chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235110	CCTCCACT others(273): Show CCTCCACTCCAACCTCTGATGGACGGTGGGCCAAGCCTCCACTCCAGCCT CTGATTGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGG CCAAGTCTCCACTCCAGCCTCTGATGGACCGTGGGCCAAGTCTCCACTCC AGCCTCTGATGGATGGTGGGCCAAGCCTCCACTCCAGCCTCTGATGGACC GTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGTCTCC ACTCCAGCCTCTGATGGACCGTGGGCCAAGT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG01884.hp2 others(1): Show HG00735.hp1 HG01256.hp2 HG01884.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0184 a0001c0001t0001g0254 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0184 a0001c0001t0001g0254 a0002c0002t0001g0293	4	362	0.0111	-280	c.-12 others(20): Show c.-127-10217_-127-9938del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5		chr19	TogoVar
ADARB2_chr10_1172313_1742525	1236325	CCCTCTGC others(272): Show CCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCC CTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCC CCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCT GATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGG AGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACAT GCCTGCATTTCCTTCTTCGGTGTTTACCCT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0082 a0002c0002t0004g0082	1	106	0.0094	-279	c.136 others(19): Show c.1362-2759_1362-2481del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9		chr10	TogoVar
ADARB2_chr10_1172313_1742525	1236373	CCCTCTGC others(272): Show CCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCC CCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCT CTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCT GGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAAC ATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCT	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0016 a0011c0008t0016	a0011c0008t0016g0003 a0011c0008t0016g0003	1	106	0.0094	-279	c.136 others(19): Show c.1362-2807_1362-2529del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9		chr10	TogoVar
ANKRD33B_chr5_10559070_10662816	10639195	CGGTGACG others(272): Show CGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGC GGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGAC GCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATG TTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGT TGCGCGGCGATGTTAGCGGGTGACGCGGGGTTGCGCGGCGATGTTAGGCG GTGACGCGGAGTTGCGCGGCGATGTTAGCG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02055.hp1 HG02451.hp2 others(4): Show HG01069.hp1 HG02055.hp1 HG02451.hp2 HG02723.hp1 NA18974.hp1 NA19087.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0028 a0001c0001 a0001c0015 a0002c0028	a0001c0001t0001 a0001c0001t0032 a0001c0001t0051 others(3): Show a0001c0001t0001 a0001c0001t0032 a0001c0001t0051 a0001c0015t0001 a0001c0015t0004 a0002c0028t0037	a0001c0001t0001g0131 a0001c0001t0032g0084 a0001c0001t0051g0315 others(4): Show a0001c0001t0001g0131 a0001c0001t0032g0084 a0001c0001t0051g0315 a0001c0015t0001g0243 a0001c0015t0004g0104 a0001c0015t0004g0105 a0002c0028t0037g0003	7	324	0.0216	-279	c.637 others(17): Show c.637+1035_637+1313del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639637	CGGAGTTG others(272): Show CGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGT TAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTT GCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGG TGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGC GATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTG GAGTTGTGCGGCGATGTTAGCGGGTGACGT	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	324	0.0031	-279	c.637 others(17): Show c.637+1472_637+1750del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639691	CGGTGACG others(272): Show CGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGC GGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGAC GCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATG TTAGCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGT TGTGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCG GTGACGTGGAGTTGCGCGGTGATGTTAGCG	C C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0155 a0001c0007t0001g0155	1	324	0.0031	-279	c.637 others(17): Show c.637+1562_637+1840del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639730	CGGAGTTG others(272): Show CGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGT TAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTT GCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGCGG TGACGTGGAGTTGTGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGC GATGTTAGGCGGTGACGTGGAGTTGCGCGGTGATGTTAGCGGGTGACGCG GAGTTGCGCGGCGATGTTAGCGGGTGACGT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02015.hp1 HG02293.hp1 others(6): Show HG00609.hp2 HG02015.hp1 HG02293.hp1 NA18612.hp2 NA18747.hp2 NA18986.hp1 NA19009.hp2 NA19064.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0031 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0031 a0001c0001t0045 a0001c0001t0055	a0001c0001t0001g0250 a0001c0001t0005g0050 a0001c0001t0005g0052 others(6): Show a0001c0001t0001g0250 a0001c0001t0005g0050 a0001c0001t0005g0052 a0001c0001t0005g0166 a0001c0001t0005g0170 a0001c0001t0005g0238 a0001c0001t0031g0317 a0001c0001t0045g0051 a0001c0001t0055g0116	9	324	0.0278	-279	c.637 others(17): Show c.637+1596_637+1874del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3D1_chr19_2095988_2156566	2128704	GCCCCCGC others(272): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGA GCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC CCCCGCCGCTCCAACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCT CCGACACTGCACCCCGTGGAGCCGGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0212 a0001c0003t0005g0212	1	406	0.0025	-279	c.806 others(15): Show c.806+107_806+385del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31		chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128751	AGCTCCGA others(272): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCCGCCGCTCCAACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC GCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCCGCC	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18747.hp1 HG02735.hp2 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0003 a0002c0007t0004 a0001c0001t0003 a0002c0007t0004	a0001c0001t0003g0385 a0002c0007t0004g0386 a0001c0001t0003g0385 a0002c0007t0004g0386	2	406	0.0049	-279	c.806 others(14): Show c.806+60_806+338del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31		chr19	TogoVar
ASMT_chrX_1610059_1648081	1624474	CCAGGCAG others(272): Show CCAGGCAGATGCTGGGAGGTGGTGGCTGACCCCAGGCAGATGCTGGGAGG TGGGGGCTGACCCCAGGCAGATGCTGGGAGGTGGGGGCTGCACCCAGGCA GATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGGC TGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGATGCTG GGAGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGACCCC AGGCAGATGCTGGGAGGTGGTGGCTGACCA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00597.hp1 others(43): Show HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01516.hp2 HG01517.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02109.hp2 HG02148.hp1 HG02257.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02630.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG03486.hp2 NA18939.hp1 NA18942.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18956.hp2 NA18977.hp2 NA18988.hp1 NA18998.hp2 NA19002.hp1 NA19010.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp2 NA19085.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0011 a0014	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005 a0008c0013 a0011c0008 a0014c0018	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0003c0005t0001 a0008c0013t0001 a0011c0008t0001 a0014c0018t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0037 others(43): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0174 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0002g0134 a0001c0001t0002g0143 a0001c0001t0002g0180 a0001c0001t0002g0200 a0001c0001t0002g0218 a0001c0003t0001g0013 a0001c0003t0001g0062 a0001c0003t0001g0080 a0001c0003t0001g0219 a0001c0003t0002g0133 a0001c0003t0002g0155 a0001c0003t0002g0173 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0074 a0002c0002t0001g0098 a0002c0002t0001g0189 a0002c0002t0001g0221 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0178 a0002c0002t0002g0191 a0002c0002t0002g0198 a0002c0002t0002g0199 a0003c0005t0001g0202 a0008c0013t0001g0101 a0011c0008t0001g0034 a0014c0018t0001g0060	46	223	0.2063	-279	c.374 others(14): Show c.374+98_374+376del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8	INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1624534	CCCCAGGC others(272): Show CCCCAGGCAGATGCTGGGAGGTGGGGGCTGCACCCAGGCAGATGCTGGGA GGTGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGCACCCAGG CAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTG GCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGACCCCAGGCAGATGC TGGGAGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGACC CCAGGCAGATGCTGGGAGGTGGGGGCTGCA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG02809.hp1 others(6): Show HG01884.hp1 HG02622.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG03041.hp1 HG03453.hp2 HG03540.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0071 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0123 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0002c0002t0001g0009	9	223	0.0404	-279	c.374 others(15): Show c.374+198_374+476del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8	INFO_REALIGN_3_PRIME	chrX	TogoVar
CAMKK1_chr17_3855315_3898053	3868029	GCCGTCTA others(272): Show GCCGTCTAACTGATACACAGGATCTGGGGGAGAAGCAGGCGCAGTCTAAC TGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGG GCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGG AGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGC GCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAAC TGATACGTGGGCACGGGGGAGATGCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0288 a0001c0003t0010g0288	1	446	0.0022	-279	c.134 others(19): Show c.1341+1179_1341+1457del	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15		chr17	TogoVar
CDK12_chr17_39456486_39539544	39498929	TTCTTTCT others(272): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00735.hp1 others(18): Show HG00099.hp2 HG00558.hp2 HG00735.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01981.hp1 HG02083.hp1 HG02129.hp1 HG02559.hp2 HG02896.hp2 HG02970.hp2 HG03017.hp1 HG03704.hp1 NA18966.hp2 NA19005.hp2 NA19240.hp2 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0024 a0001c0001t0031 a0005c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0131 a0001c0001t0001g0132 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0001g0250 a0001c0001t0006g0232 a0001c0001t0017g0207 a0001c0001t0024g0227 a0001c0001t0024g0254 a0001c0001t0031g0247 a0005c0010t0001g0179	21	260	0.0808	-279	c.242 others(19): Show c.2420-2319_2420-2041del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13	INFO_REALIGN_3_PRIME	chr17	TogoVar
CHSY3_chr5_129899465_130191634	130047857	ATATAACA others(272): Show ATATAACATTTCACCTTTTATAATTACTGAACAGAATTATTGTCAGGTTT TTGTTTGTGTTAACTTGTACATCTTAGGAGTATCAACCTTTTTTTTCCTT TTTTAAGTAAAAATAATGAATGGCTTTACCTATTTTGCACGCGTGGCTGT AAAAAAAGAAGTAAAGAAAAAGCAAGGAAAGAGGAAAAGTTTTAAAAAAC GGGAAGGAAAAAGAGAAAATGAACAAATTAGTAGAACGAAGTACGGATTT AGTGTGTATATGTATGTGTATAGAGATGGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02258.hp2 others(10): Show HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02622.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 NA18906.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0007 others(2): Show a0001c0001 a0002c0003 a0002c0007 a0003c0004 a0003c0012	a0001c0001t0006 a0001c0001t0017 a0002c0003t0005 others(5): Show a0001c0001t0006 a0001c0001t0017 a0002c0003t0005 a0002c0003t0006 a0002c0007t0009 a0002c0007t0012 a0003c0004t0018 a0003c0012t0003	a0001c0001t0006g0247 a0001c0001t0006g0253 a0001c0001t0017g0123 others(10): Show a0001c0001t0006g0247 a0001c0001t0006g0253 a0001c0001t0017g0123 a0002c0003t0005g0124 a0002c0003t0005g0126 a0002c0003t0005g0127 a0002c0003t0005g0128 a0002c0003t0006g0252 a0002c0007t0009g0125 a0002c0007t0012g0129 a0003c0004t0018g0130 a0003c0012t0003g0118 a0003c0012t0003g0119	13	276	0.0471	-279	c.108 others(23): Show c.1087-136371_1087-136093del	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		chr5	TogoVar
DLGAP2_chr8_732628_1713476	1643312	CCCTCACC others(272): Show CCCTCACCTGTGTCACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCT GGAACCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCAC CTGTGTCACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCTGGAACCC GCCGGTCCTCACCTGTGTCACCCTCGAACCCGCCGGTCCTCACCTGTGTC ACCCTCGAACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCC CTCACCTGTGTCACCCTCCAACCCGCCGGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0031 a0003c0005t0002g0031	1	40	0.0250	-279	c.181 others(21): Show c.1810+10285_1810+10563del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14	INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643653	TCCTCACC others(272): Show TCCTCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCT CGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCAC CTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCC GCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTC ACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGTC CTCACCTGTGTCACCCTCGACCCCGCCGGC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0005 a0001c0002t0023g0005	1	40	0.0250	-279	c.181 others(21): Show c.1810+10627_1810+10905del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14	INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH7_chr2_195732703_196073837	195871687	TAAACTAC others(272): Show TAAACTACTTAAGGGAAGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTTAGGC AGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00741.hp2 others(92): Show HG00140.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG02040.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03831.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18947.hp1 NA18948.hp2 NA18964.hp1 NA18965.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19077.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0005 a0006 others(24): Show a0003 a0005 a0006 a0007 a0008 a0009 a0012 a0013 a0016 a0017 a0018 a0020 a0021 a0022 a0029 a0033 a0034 a0035 a0038 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0051	a0003c0004 a0003c0025 a0003c0068 others(28): Show a0003c0004 a0003c0025 a0003c0068 a0005c0007 a0005c0062 a0006c0005 a0007c0008 a0008c0009 a0009c0010 a0009c0021 a0012c0011 a0013c0016 a0016c0013 a0017c0019 a0018c0018 a0020c0024 a0021c0071 a0022c0070 a0029c0045 a0033c0060 a0034c0039 a0035c0058 a0038c0032 a0043c0065 a0044c0031 a0045c0028 a0046c0030 a0047c0029 a0048c0027 a0049c0026 a0051c0067	a0003c0004t0001 a0003c0004t0003 a0003c0025t0003 others(31): Show a0003c0004t0001 a0003c0004t0003 a0003c0025t0003 a0003c0068t0003 a0005c0007t0005 a0005c0007t0006 a0005c0062t0005 a0006c0005t0001 a0006c0005t0007 a0007c0008t0001 a0008c0009t0002 a0009c0010t0005 a0009c0021t0001 a0012c0011t0003 a0013c0016t0001 a0016c0013t0003 a0017c0019t0001 a0018c0018t0001 a0020c0024t0003 a0021c0071t0003 a0022c0070t0003 a0029c0045t0003 a0033c0060t0005 a0034c0039t0001 a0035c0058t0003 a0038c0032t0003 a0043c0065t0001 a0044c0031t0001 a0045c0028t0001 a0046c0030t0011 a0047c0029t0003 a0048c0027t0001 a0049c0026t0001 a0051c0067t0001	a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0003g0094 others(92): Show a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0003g0094 a0003c0004t0003g0098 a0003c0004t0003g0100 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0109 a0003c0025t0003g0099 a0003c0025t0003g0101 a0003c0068t0003g0095 a0005c0007t0005g0246 a0005c0007t0006g0241 a0005c0007t0006g0243 a0005c0007t0006g0244 a0005c0007t0006g0245 a0005c0007t0006g0253 a0005c0007t0006g0254 a0005c0007t0006g0255 a0005c0007t0006g0256 a0005c0062t0005g0240 a0006c0005t0001g0004 a0006c0005t0001g0005 a0006c0005t0001g0006 a0006c0005t0001g0007 a0006c0005t0001g0011 a0006c0005t0001g0013 a0006c0005t0001g0014 a0006c0005t0007g0008 a0006c0005t0007g0009 a0006c0005t0007g0010 a0007c0008t0001g0110 a0007c0008t0001g0111 a0007c0008t0001g0112 a0007c0008t0001g0113 a0007c0008t0001g0114 a0007c0008t0001g0115 a0007c0008t0001g0116 a0007c0008t0001g0117 a0007c0008t0001g0118 a0008c0009t0002g0038 a0008c0009t0002g0039 a0008c0009t0002g0040 a0008c0009t0002g0042 a0008c0009t0002g0043 a0008c0009t0002g0044 a0008c0009t0002g0045 a0008c0009t0002g0046 a0009c0010t0005g0247 a0009c0010t0005g0248 a0009c0010t0005g0249 a0009c0010t0005g0250 a0009c0010t0005g0251 a0009c0010t0005g0252 a0009c0021t0001g0210 a0009c0021t0001g0211 a0012c0011t0003g0024 a0012c0011t0003g0025 a0012c0011t0003g0026 a0012c0011t0003g0027 a0012c0011t0003g0029 a0013c0016t0001g0031 a0013c0016t0001g0034 a0013c0016t0001g0035 a0013c0016t0001g0036 a0016c0013t0003g0017 a0016c0013t0003g0018 a0016c0013t0003g0019 a0016c0013t0003g0020 a0017c0019t0001g0088 a0017c0019t0001g0089 a0017c0019t0001g0091 a0018c0018t0001g0030 a0018c0018t0001g0032 a0018c0018t0001g0033 a0020c0024t0003g0047 a0020c0024t0003g0048 a0021c0071t0003g0090 a0022c0070t0003g0108 a0029c0045t0003g0059 a0033c0060t0005g0239 a0034c0039t0001g0012 a0035c0058t0003g0131 a0038c0032t0003g0015 a0043c0065t0001g0093 a0044c0031t0001g0016 a0045c0028t0001g0021 a0046c0030t0011g0238 a0047c0029t0003g0022 a0048c0027t0001g0023 a0049c0026t0001g0028 a0051c0067t0001g0092	95	256	0.3711	-279	c.663 others(17): Show c.6633+284_6633+562del	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	40/64		chr2	TogoVar
DNM3_chr1_171836498_172417717	171892820	GCATGCAA others(272): Show GCATGCAACCTAGATCCCTTGCATAAGCAGTTCATGATAGGGTTTACACT GTTATGAGAATCTATTGCCACCACTGATCAGACAGGAAGCGGAGCTCAGG TGGTAATGCTGTTGCCCACGGGTCACCTCCTGCTGTGCGGCCCAGTTCCT AACAGGCCATGGATAGGTGTTGGTCTGTGGCGCAAGAGTTGGGGACCCCT GAACTAGAGTACAGTGGTTATGTGTGGTTCCTTTTCCCTTTAGTCTTGCA GACTCCACTCATTTCCAAAGTTACTTAGGT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp1 HG02109.hp1 others(2): Show HG01192.hp1 HG02055.hp1 HG02109.hp1 HG02572.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0017 a0001c0002t0019 a0001c0002t0004 a0001c0002t0017 a0001c0002t0019	a0001c0002t0004g0009 a0001c0002t0004g0024 a0001c0002t0004g0046 others(2): Show a0001c0002t0004g0009 a0001c0002t0004g0024 a0001c0002t0004g0046 a0001c0002t0017g0008 a0001c0002t0019g0045	5	136	0.0368	-279	c.162 others(19): Show c.162-28925_162-28647del	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	1/20	INFO_REALIGN_3_PRIME	chr1	TogoVar
ETV3_chr1_157116191_157143395	157126761	GAGCTGCC others(272): Show GAGCTGCCCTGGCTGACTGTGCGGAGGGACAGAGCTGCCCTGGCTGACTG TAGGGAGGGACAGAGCTGCCCTGGCTGACTGTAGGGAGGGGAAGAGCTGC CCTGGCTGACTGTGGGGAGGGACAGAGCTGCCCTGGCTGACTGTGGGGAG GGGCAGAGCTGCCCTGGCTGACTGTGGGGAGGGACAGAGCTGCCCTGGCT GACTGTGGGGAGGGACAGAGCTGCCCTGGCTGACTGTGGGGAGGGGCAGA GCTGCCCTGGCTGACTGTGGGGAGGGGCAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG02109.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0102 a0001c0004t0002g0104 a0001c0004t0002g0102 a0001c0004t0002g0104	2	404	0.0050	-279	c.401 others(16): Show c.401-1061_401-783del	ETV3	ENSG00000117036.12	transcript	ENST00000368192.9	protein_coding	4/4		chr1	TogoVar
FAT1_chr4_186582794_186728856	186638762	AAAAGTTA others(272): Show AAAAGTTACAGTTTAGAATTTTGTCACTTATACTGTTAGAGTGGAAGAAG AGCACTGATAACTCAATTAAACAAAGGCAGGTGGCCTTTTCCAAGGCTGG CTCCGATAATGAACACCAGTCTTCCACACGGGACAGAGAGATGTCTCTAC GCCCCTCTCTGCGGTCTGCCTGTCTCTCAGCCGCTTCCTGACGACACGGC CCAGAGATCTCATCAACCTGATGTCCATGTTACGCTCCACCTTCCCTCTC CAAATTACTCGCGGCCTTTTTCTGCAATGT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG02818.hp1 others(2): Show HG02486.hp1 HG02630.hp2 HG02818.hp1 HG02896.hp1 HG03225.hp1	a0025 a0035 a0065 others(1): Show a0025 a0035 a0065 a0111	a0025c0022 a0035c0040 a0065c0080 others(1): Show a0025c0022 a0035c0040 a0065c0080 a0111c0163	a0025c0022t0029 a0035c0040t0005 a0035c0040t0053 others(2): Show a0025c0022t0029 a0035c0040t0005 a0035c0040t0053 a0065c0080t0026 a0111c0163t0057	a0025c0022t0029g0093 a0035c0040t0005g0022 a0035c0040t0053g0320 others(2): Show a0025c0022t0029g0093 a0035c0040t0005g0022 a0035c0040t0053g0320 a0065c0080t0026g0010 a0111c0163t0057g0315	5	338	0.0148	-279	c.364 others(17): Show c.3642+681_3642+959del	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	4/26		chr4	TogoVar

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Search Results (Total: 10000 hits)