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
ZNF578_chr19_52448553_52521882	52496329	TTTATTTA others(302): Show TTTATTTATTTATTTATTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTG GAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACATGCGCCC GCCACCGCGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTGTCA CCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCAGCC TCATTAGTTG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG02809.hp2 others(2): Show HG02486.hp1 HG02630.hp2 HG02809.hp2 HG03471.hp1 NA21309.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0011 a0005c0006t0047 a0005c0006t0011 a0005c0006t0047	a0005c0006t0011g0034 a0005c0006t0011g0316 a0005c0006t0011g0361 others(2): Show a0005c0006t0011g0034 a0005c0006t0011g0316 a0005c0006t0011g0361 a0005c0006t0011g0362 a0005c0006t0047g0270	5	372	0.0134	-309	c.-20 others(17): Show c.-20+4961_-19-5133del	ZNF578	ENSG00000258405.11	transcript	ENST00000421239.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADARB2_chr10_1172313_1742525	1238702	TACTCCCT others(301): Show TACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCA TCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGATACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0066 a0001c0007t0066	a0001c0007t0066g0105 a0001c0007t0066g0105	1	106	0.0094	-308	c.136 others(19): Show c.1361+3121_1361+3428del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1542563	GGACCCTG others(301): Show GGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCGGACCC TGGATCACAGCCGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATC ACAGCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAGCC GTCCAGACCCCACTCAGACGCAGTTCGGACCCCGGATCACAGCCGCCCAG ACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCA CTCAGACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGA TGTAGTTCA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp1 HG03540.hp1 others(2): Show HG02615.hp1 HG02622.hp1 HG03540.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0008c0013	a0001c0001t0023 a0001c0003t0001 a0001c0003t0045 others(2): Show a0001c0001t0023 a0001c0003t0001 a0001c0003t0045 a0002c0002t0053 a0008c0013t0020	a0001c0001t0023g0023 a0001c0003t0001g0052 a0001c0003t0045g0057 others(2): Show a0001c0001t0023g0023 a0001c0003t0001g0052 a0001c0003t0045g0057 a0002c0002t0053g0106 a0008c0013t0020g0037	5	106	0.0472	-308	c.101 others(21): Show c.101-163711_101-163404del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AMFR_chr16_56356452_56430545	56397703	AATCATTT others(301): Show AATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCAT TTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAA TATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATA AATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTA TCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTT ATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATA TATAAATGT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18951.hp2 NA18978.hp2 HG02895.hp1 NA18951.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0054 a0001c0001t0013 a0001c0001t0054	a0001c0001t0013g0332 a0001c0001t0013g0333 a0001c0001t0054g0348 a0001c0001t0013g0332 a0001c0001t0013g0333 a0001c0001t0054g0348	3	356	0.0084	-308	c.108 others(19): Show c.1085+3722_1085+4029del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
ATP10A_chr15_25673712_25868327	25757872	CCACCTGC others(301): Show CCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTC CACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACT CATTCCGAC	C C	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18984.hp1 NA18988.hp2 others(2): Show NA18944.hp2 NA18984.hp1 NA18988.hp2 NA19004.hp1 NA19081.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0001 a0002c0002t0001 a0005c0005t0001	a0002c0002t0001g0238 a0005c0005t0001g0237 a0005c0005t0001g0239 others(2): Show a0002c0002t0001g0238 a0005c0005t0001g0237 a0005c0005t0001g0239 a0005c0005t0001g0240 a0005c0005t0001g0258	5	300	0.0167	-308	c.655 others(19): Show c.655-22039_655-21732del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
CCDC73_chr11_32597721_32799662	32755855	GTGTATAT others(301): Show GTGTATATATCTCCATATATATATCTGTGTATATATCTCCATATATATCT ATATATATCTCCATATATATATCTATATATATATCTCCATATATATATCT ATATATATATCTCCATATATATATCTATATATATATCTCCATATATATAT CTATATATATATCTCCATATATATATCTATATATATATCTCCATATATAT ATCTATATATATATCTCCATATATATATCTATATATATATCTCCATATAT ATATCTATATATATATCTCCATATATATATCTATATATATATCTCCATAT ATATATCTA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	312	0.0032	-308	c.135 others(17): Show c.135+3946_135+4253del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCSER1_chr4_90122394_91610295	90460032	CAAAAACT others(301): Show CAAAAACTAAGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACAGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAA AAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02897.hp1 HG02723.hp2 HG02897.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0004 a0006c0006t0016 a0001c0001t0004 a0006c0006t0016	a0001c0001t0004g0022 a0006c0006t0016g0020 a0001c0001t0004g0022 a0006c0006t0016g0020	2	38	0.0526	-308	c.160 others(19): Show c.1604-8189_1604-7882del	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDH4_chr20_61247261_61945617	61350054	AAGGCCAG others(301): Show AAGGCCAGCGGAATACCTCTGACCTTGCCTCTCCCACCCAGCGTCAGGCA GACACCTCCCCCTCCCCCAGTGCTGCAGAGGCCAGCGGAACACCTCTGAC CTTGCCTCTCCCACCCAGCGTCAGGCAGACACCTCCCCCTCCCCCAGTGC TGCAGAGGCCAGCGGAACACCTCTGACCTTGCTTCTCCCACCCAGCGTCA GGCAGACACCTCCCCCTCCCCCAGTGCTGCAGAGGCCAGCGGGACACCTC TGACCTTGCCTCTCCCACCCAGCGTCAGGCAGACACCTCCCCCTCCCCCA GTGCTGCAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02145.hp1 HG02257.hp1 others(2): Show HG00738.hp2 HG02145.hp1 HG02257.hp1 HG03209.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0001c0013 a0002c0002	a0001c0001t0009 a0001c0003t0002 a0001c0007t0010 others(2): Show a0001c0001t0009 a0001c0003t0002 a0001c0007t0010 a0001c0013t0006 a0002c0002t0004	a0001c0001t0009g0019 a0001c0003t0002g0002 a0001c0007t0010g0037 others(2): Show a0001c0001t0009g0019 a0001c0003t0002g0002 a0001c0007t0010g0037 a0001c0013t0006g0036 a0002c0002t0004g0070	5	106	0.0472	-308	c.169 others(19): Show c.169+95130_169+95437del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61350067	TACCTCTG others(301): Show TACCTCTGACCTTGCCTCTCCCACCCAGCGTCAGGCAGACACCTCCCCCT CCCCCAGTGCTGCAGAGGCCAGCGGAACACCTCTGACCTTGCCTCTCCCA CCCAGCGTCAGGCAGACACCTCCCCCTCCCCCAGTGCTGCAGAGGCCAGC GGAACACCTCTGACCTTGCTTCTCCCACCCAGCGTCAGGCAGACACCTCC CCCTCCCCCAGTGCTGCAGAGGCCAGCGGGACACCTCTGACCTTGCCTCT CCCACCCAGCGTCAGGCAGACACCTCCCCCTCCCCCAGTGCTGCAGAGGC CAGCGGAAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02055.hp2 HG03579.hp2 others(2): Show HG01106.hp2 HG02055.hp2 HG03579.hp2 NA18906.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0001c0012 others(1): Show a0001c0001 a0001c0010 a0001c0012 a0002c0002	a0001c0001t0001 a0001c0010t0001 a0001c0012t0001 others(2): Show a0001c0001t0001 a0001c0010t0001 a0001c0012t0001 a0002c0002t0013 a0002c0002t0023	a0001c0001t0001g0006 a0001c0010t0001g0027 a0001c0012t0001g0008 others(2): Show a0001c0001t0001g0006 a0001c0010t0001g0027 a0001c0012t0001g0008 a0002c0002t0013g0017 a0002c0002t0023g0102	5	106	0.0472	-308	c.169 others(19): Show c.169+95299_169+95606del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP251_chr12_121913592_122008919	121993812	CGCCCGGC others(301): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCACCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCTGGCCAGCCGCCCCAT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCGGCCCCTACTGGGAAGTGAGG AGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	354	0.0028	-308	c.300 others(19): Show c.3007-5763_3007-5456del	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
COG1_chr17_73188055_73213507	73194153	TTTTTATT others(301): Show TTTTTATTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCCAGACCATCCTGGC TAACACGGTGAAACCCCGTCTCTACTAAAAATACACAAAATTAGCCAGGC GTGGTGGCCGGCGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGCAGGAG AATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTGGGCCACAGAGCGAGACTCTGTCTCAAAAAAAAAAA AAAAAAGAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01168.hp2 HG02735.hp1 HG01123.hp2 HG01168.hp2 HG02735.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0114 a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0114 a0002c0001t0001g0115 a0002c0001t0001g0116	3	428	0.0070	-308	c.315 others(16): Show c.315+774_315+1081del	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTDP1_chr18_79674803_79759503	79745318	TGCGTCCC others(301): Show TGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTC TGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGC GCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTC CCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCG TCCCTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTC CCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGT TCTGTGCCC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0078 a0001c0014t0001g0078	1	378	0.0027	-308	c.274 others(19): Show c.2748-8253_2748-7946del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745427	CCCCGCGT others(301): Show CCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCG TGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCC CTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCC GCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCT GTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCG CGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0234 a0002c0006t0001g0234	1	378	0.0027	-308	c.274 others(19): Show c.2748-8121_2748-7814del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745763	CCCCGCGT others(301): Show CCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCG TGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCC CTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCC GCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCT GTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCG CGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0225 a0002c0006t0001g0225	1	378	0.0027	-308	c.274 others(19): Show c.2748-7785_2748-7478del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745931	GCCCGCGT others(301): Show GCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCG TTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCG TGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCC CTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCC GCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCT GTCCCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCG CGTTCTGAC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp2 HG02486.hp1 others(5): Show HG01074.hp1 HG01106.hp2 HG02486.hp1 HG02615.hp1 HG02717.hp2 HG02895.hp1 HG03130.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0021 a0001c0001 a0001c0008 a0001c0021	a0001c0001t0002 a0001c0008t0001 a0001c0021t0007 a0001c0001t0002 a0001c0008t0001 a0001c0021t0007	a0001c0001t0002g0187 a0001c0008t0001g0010 a0001c0008t0001g0198 others(5): Show a0001c0001t0002g0187 a0001c0008t0001g0010 a0001c0008t0001g0198 a0001c0008t0001g0200 a0001c0008t0001g0203 a0001c0008t0001g0204 a0001c0008t0001g0205 a0001c0021t0007g0341	8	378	0.0212	-308	c.274 others(19): Show c.2748-7665_2748-7358del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDX51_chr12_132131594_132149319	132148890	ACCTCGGT others(301): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03471.hp1 HG02622.hp2 HG03471.hp1	a0004 a0012 a0004 a0012	a0004c0012 a0012c0015 a0004c0012 a0012c0015	a0004c0012t0013 a0012c0015t0017 a0004c0012t0013 a0012c0015t0017	a0004c0012t0013g0018 a0012c0015t0017g0031 a0004c0012t0013g0018 a0012c0015t0017g0031	2	334	0.0060	-308	c.-49 others(11): Show c.-4902_-4595del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4572		chr12	TogoVar
DIRAS1_chr19_2709567_2726372	2713361	TCACCTCC others(301): Show TCACCTCCTCCACCCTTCATCCCATCCGTCACTGTCTACACCGATCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTAATGCCATCTCTCACTTCCTACACCCATCACCTCCTCCACCCTTC ATCCCATCCATCACTGTCTACACCCATCACCTCCTCCACCCTTCATCCCA TCCCTCACTTCCTCCACGCACCACCTCCTCCACCCTTCATCCCATCCCTC ACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCC TACACCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03098.hp1 HG03041.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0025 a0001c0001t0017 a0001c0001t0025	a0001c0001t0017g0043 a0001c0001t0025g0044 a0001c0001t0017g0043 a0001c0001t0025g0044	2	412	0.0049	-308	c.35 others(11): Show c.3541_*3848del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1205		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713606	CCCTCACT others(301): Show CCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCA CTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC ACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTT CATCCCATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02015.hp2 NA18951.hp2 HG00423.hp2 HG02015.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	3	412	0.0073	-308	c.32 others(11): Show c.3296_*3603del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		960		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713996	TCCCATCC others(301): Show TCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCAT CCCTCACTTCCTCCACCCACCACCTCCTCCACCCTTCACCCCATCCCTCA CTTCCTACACCCATCACCTCCTCCACCCTTCACACCATCCCTCACTTCCT ACACCCACCACTTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC ACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGTCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTTCTCA ACCCTTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	412	0.0024	-308	c.29 others(11): Show c.2906_*3213del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		570		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714084	CCCCATCC others(301): Show CCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACACCAT CCCTCACTTCCTACACCCACCACTTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCT ACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC ACCACCTTCTCAACCCTTCACCCCATCCCTCACTTCCTCCACCCACCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCTCCTCC ACCCTTCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03139.hp2 HG03486.hp2 HG02630.hp1 HG03139.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0089 a0001c0001t0008g0019 a0001c0001t0008g0089	3	412	0.0073	-308	c.28 others(11): Show c.2818_*3125del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		482		chr19	TogoVar
DNAJC25_chr9_111626334_111659345	111641637	CCCCCCGC others(301): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGTTCAG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0139	1	412	0.0024	-308	c.337 others(17): Show c.337-5464_337-5157del	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJC25_chr9_111626334_111659345	111641675	GGGGGGGG others(301): Show GGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCACCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGTTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp1 others(114): Show HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG01074.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03927.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19059.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0008 a0004c0009	a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0006t0002 a0002c0003t0002 a0002c0003t0003 a0002c0008t0002 a0004c0009t0007	a0001c0001t0004g0019 a0001c0001t0004g0042 a0001c0001t0004g0043 others(75): Show a0001c0001t0004g0019 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0138 a0001c0002t0002g0022 a0001c0002t0002g0025 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0222 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0128 a0001c0002t0005g0018 a0001c0002t0005g0137 a0001c0002t0005g0198 a0001c0002t0005g0199 a0001c0002t0005g0200 a0001c0002t0005g0201 a0001c0002t0007g0005 a0001c0002t0007g0025 a0001c0002t0007g0219 a0001c0002t0007g0221 a0001c0002t0007g0223 a0001c0002t0007g0224 a0001c0006t0002g0005 a0001c0006t0002g0025 a0001c0006t0002g0220 a0002c0003t0002g0001 a0002c0003t0002g0007 a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0257 a0002c0003t0002g0258 a0002c0003t0002g0260 a0002c0003t0002g0261 a0002c0003t0002g0263 a0002c0003t0002g0264 a0002c0003t0002g0265 a0002c0003t0002g0266 a0002c0003t0002g0267 a0002c0003t0002g0268 a0002c0003t0002g0271 a0002c0003t0002g0272 a0002c0003t0002g0273 a0002c0003t0002g0274 a0002c0003t0002g0275 a0002c0003t0002g0276 a0002c0003t0002g0277 a0002c0003t0002g0278 a0002c0003t0002g0279 a0002c0003t0002g0280 a0002c0003t0002g0281 a0002c0003t0002g0282 a0002c0003t0002g0283 a0002c0003t0002g0284 a0002c0003t0002g0285 a0002c0003t0002g0286 a0002c0003t0002g0287 a0002c0003t0003g0251 a0002c0003t0003g0252 a0002c0003t0003g0253 a0002c0003t0003g0254 a0002c0008t0002g0053 a0004c0009t0007g0225	117	412	0.2840	-308	c.337 others(17): Show c.337-5423_337-5116del	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPP6_chr7_154047398_154899285	154060351	GCAGGGAC others(301): Show GCAGGGACTGAGAGCCAGCCCCTGGTTCCCCCACTGGCTCTTAGGACCCC CATCGCAGAGGGGGGAGGCACCCCCCGCGAGGCGGGGACTGCGAGCCAGA CCCTCTTCCCCCTCTGGCTTAGGACCTCCATCGTTGATCCTAAGATCCTT AGGACCCACCTGGAGGACTGCGGGTGTTAGGTGTCCAAGTAGAAAGTTCA AATCTTCCGACGGCAGGTACCTTACGTGGGATTACTGAGAGCCAGTCCCT CTTCCCCCCCCTGGCTCTGAGGACCCCCATCGCAGGAGGGGGAGGCACCC CCCACGAGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0015 a0001c0006t0002g0015	1	38	0.0263	-308	c.243 others(17): Show c.243+7289_243+7596del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
DPP6_chr7_154047398_154899285	154661068	GTTCATAT others(301): Show GTTCATATAGTCATGGTGAATCACCATGGCGTATTGGCGCTAGTATTCAT ATAGTCATGGTGAATCACCATGGCGTATTGGCCGTAGTGTTCATATAGTC ATGGTGAATCACCATGGCGTATTGGCGCTAGTATTCATATAGTCATGGTG AATCACCATGGCGTATTGGCCGTAGTGTTCATATAGTCATGGTGAATCAC CATGGCGTATTGGCGCTAGTATTCATATAGTCATGGTGAATCACCATGGC GTATTGGCCGTAGTGTTCATATAGTCATGGTGAATCACCATGGCGTATTG GCGCTAGTA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0012 a0001c0011t0003g0012	1	38	0.0263	-308	c.681 others(17): Show c.681-8254_681-7947del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
FBXW10B_chr17_15578886_15624704	15602615	TGAGACCG others(301): Show TGAGACCGAGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGT CGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCCTCCGC CCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTCAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02738.hp2 HG04199.hp1 others(6): Show HG02055.hp2 HG02738.hp2 HG04199.hp1 NA18981.hp2 NA18984.hp1 NA18994.hp2 NA19003.hp1 NA19056.hp2 NA19059.hp1	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0009	a0002c0002 a0004c0004 a0006c0006 others(1): Show a0002c0002 a0004c0004 a0006c0006 a0009c0009	a0002c0002t0001 a0004c0004t0002 a0004c0004t0005 others(3): Show a0002c0002t0001 a0004c0004t0002 a0004c0004t0005 a0006c0006t0079 a0009c0009t0001 a0009c0009t0025	a0002c0002t0001g0086 a0002c0002t0001g0092 a0002c0002t0001g0132 others(6): Show a0002c0002t0001g0086 a0002c0002t0001g0092 a0002c0002t0001g0132 a0004c0004t0002g0315 a0004c0004t0005g0313 a0004c0004t0005g0400 a0006c0006t0079g0123 a0009c0009t0001g0342 a0009c0009t0025g0232	9	452	0.0199	-308	c.143 others(19): Show c.1433+2300_1433+2607del	FBXW10B	ENSG00000241322.11	transcript	ENST00000395906.8	protein_coding	7/11			chr17	TogoVar
FLT4_chr5_180596506_180654600	180635087	TGGATGGA others(301): Show TGGATGGATGGATGGATGGAAGTATGGGTGGAGGGGTGGGTGGATGGATG CATGGATGGATGGAAGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGA TGGGTGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTG GGTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGGA TGGATGGAAGTATGGGTGGATGGGTGGATGGATGCATGGATGGATGGAAG TATGGGTGGATGGGAGGGTGGGTGGATGGATGGATGGATGGAAGTATGGG TGGATGGGA	T T	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	388	0.0026	-308	c.59- others(15): Show c.59-3617_59-3310del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26776341	TACATTTT others(301): Show TACATTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(178): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19072.hp1 NA19072.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0002t0007 a0001c0003t0002 a0001c0003t0022 a0001c0004t0002 a0001c0006t0025	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 others(178): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0044 a0001c0001t0002g0055 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0153 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0181 a0001c0001t0003g0012 a0001c0001t0003g0019 a0001c0001t0003g0043 a0001c0001t0003g0051 a0001c0001t0003g0098 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0115 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0157 a0001c0001t0003g0167 a0001c0001t0003g0191 a0001c0001t0004g0008 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0041 a0001c0001t0004g0047 a0001c0001t0004g0053 a0001c0001t0004g0060 a0001c0001t0004g0064 a0001c0001t0004g0066 a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0004g0097 a0001c0001t0004g0114 a0001c0001t0004g0117 a0001c0001t0004g0154 a0001c0001t0004g0160 a0001c0001t0004g0163 a0001c0001t0004g0165 a0001c0001t0004g0182 a0001c0001t0005g0009 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0045 a0001c0001t0005g0096 a0001c0001t0005g0099 a0001c0001t0005g0127 a0001c0001t0005g0152 a0001c0001t0005g0189 a0001c0001t0006g0058 a0001c0001t0006g0063 a0001c0001t0006g0076 a0001c0001t0006g0078 a0001c0001t0006g0128 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0008g0056 a0001c0001t0008g0072 a0001c0001t0008g0081 a0001c0001t0008g0095 a0001c0001t0008g0190 a0001c0001t0009g0031 a0001c0001t0009g0050 a0001c0001t0009g0172 a0001c0001t0009g0186 a0001c0001t0010g0036 a0001c0001t0010g0046 a0001c0001t0010g0049 a0001c0001t0010g0073 a0001c0001t0011g0010 a0001c0001t0011g0023 a0001c0001t0011g0079 a0001c0001t0012g0059 a0001c0001t0012g0092 a0001c0001t0012g0093 a0001c0001t0013g0131 a0001c0001t0013g0132 a0001c0001t0013g0171 a0001c0001t0017g0082 a0001c0001t0017g0086 a0001c0001t0018g0057 a0001c0001t0019g0039 a0001c0001t0023g0089 a0001c0001t0024g0116 a0001c0001t0026g0071 a0001c0001t0027g0027 a0001c0001t0028g0017 a0001c0001t0029g0062 a0001c0001t0031g0042 a0001c0001t0032g0022 a0001c0001t0033g0201 a0001c0001t0036g0204 a0001c0002t0007g0020 a0001c0002t0007g0038 a0001c0002t0007g0040 a0001c0002t0007g0075 a0001c0003t0002g0018 a0001c0003t0022g0014 a0001c0004t0002g0011 a0001c0004t0002g0169 a0001c0006t0025g0108	181	204	0.8873	-308	c.-36 others(11): Show c.-3687_-3380del	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding		3276		chr15	TogoVar
GFPT2_chr5_180295698_180358336	180317464	TAAAAACC others(301): Show TAAAAACCTTTCCAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAAGTCAGGAGATCGAGACCAT CCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACAGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAA AAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp2 HG03540.hp2 others(1): Show HG02145.hp2 HG02622.hp2 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0009 a0001c0021 a0001c0009 a0001c0021	a0001c0009t0001 a0001c0009t0002 a0001c0009t0006 others(1): Show a0001c0009t0001 a0001c0009t0002 a0001c0009t0006 a0001c0021t0002	a0001c0009t0001g0172 a0001c0009t0002g0367 a0001c0009t0006g0384 others(1): Show a0001c0009t0001g0172 a0001c0009t0002g0367 a0001c0009t0006g0384 a0001c0021t0002g0271	4	412	0.0097	-308	c.959 others(15): Show c.959-714_959-407del	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	10/18			chr5	TogoVar
GSTT4_chr22_23993401_24010453	24002540	GAACTTCT others(301): Show GAACTTCTTGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTCTG GGAGGCCGAGGCGGGGGGATCATGGGGTCAGGAGATCGAGACCATCCTGG TTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAG GCATGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATAGCGC CACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0040 a0005c0005t0001g0040	1	161	0.0062	-308	c.200 others(16): Show c.200+912_201-1216del	GSTT4	ENSG00000276950.6	transcript	ENST00000621179.6	protein_coding	2/4			chr22	TogoVar
GYG2_chrX_2823930_2887818	2845015	ATGTGTAT others(301): Show ATGTGTATGTATATTTATATACACATGTGTATGTATATATACACGTGTGT ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGT ATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTAT ATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATAT TTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTT ATATACACG	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	316	0.0032	-308	c.149 others(17): Show c.149+1685_149+1992del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845039	ATGTGTAT others(301): Show ATGTGTATGTATATATACACGTGTGTATGTATATTTATATACACGTGTGT ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGT ATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTAT ATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATAT TTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTT ATATACACG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0176 a0002c0005t0002g0176	1	316	0.0032	-308	c.149 others(17): Show c.149+1699_149+2006del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
HPSE2_chr10_98452077_99240852	98737222	GTTATATA others(301): Show GTTATATACACATAAAAATACAGGACCAAAATATATAAATGCACATTTAT ATATTAAACATAAAGGAACATAAATGCAATTCCCTGGCAAGATGGCCAAA TAGGAACAGCTCCAGTCTGCAGCTCCCAGCAAGACCAACACAGAAGGAAG GTGATTTCTGCATTTCCAACTGAGGTACCCACTTCATCTCATTGGGACTG GTTAGACAGTGGGTGCAGCCCAGTGTTGTATCTGGGCCAGCAAGCACTAT CCATCACAGCATAGTCCCTCATGGCTTCTCTTGGCTAGGGGAGGGAGTTC TCTGACCCC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(51): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG01081.hp2 HG01109.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01928.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02273.hp1 HG02523.hp1 HG02523.hp2 HG02809.hp1 HG02895.hp1 HG03098.hp1 HG03471.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG04184.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp2 NA18946.hp2 NA18950.hp2 NA18954.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18974.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA19003.hp2 NA19009.hp1 NA19083.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0002c0002t0002 a0002c0002t0013 a0002c0002t0015 a0002c0002t0021	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(51): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0003g0069 a0001c0001t0003g0114 a0001c0001t0003g0135 a0001c0001t0004g0033 a0001c0001t0004g0064 a0001c0001t0004g0070 a0001c0001t0004g0112 a0001c0001t0004g0115 a0001c0001t0006g0104 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0009g0049 a0001c0001t0009g0122 a0001c0001t0014g0001 a0001c0001t0016g0124 a0001c0001t0017g0053 a0001c0001t0026g0105 a0001c0001t0027g0003 a0001c0001t0029g0083 a0001c0001t0030g0108 a0001c0001t0031g0109 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0022 a0002c0002t0002g0043 a0002c0002t0002g0068 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0123 a0002c0002t0002g0128 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0013g0046 a0002c0002t0013g0113 a0002c0002t0015g0002 a0002c0002t0021g0099	54	142	0.3803	-308	c.784 others(17): Show c.784+6353_784+6660del	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	4/11			chr10	TogoVar
LMF1_chr16_848634_975984	859446	ACGGGACG others(301): Show ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGCAGTGATGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTG CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0018 a0018	a0018c0058 a0018c0058	a0018c0058t0001 a0018c0058t0001	a0018c0058t0001g0236 a0018c0058t0001g0236	1	294	0.0034	-308	c.153 others(19): Show c.1530-5048_1530-4741del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LYRM4_chr6_5103419_5265950	5135010	GCTGTGGA others(301): Show GCTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGGTGCGGATCGCT CCCGGGACTGTGGAGGGTGCGGTTCACTCCCGGGACTGTGGAGGGTGCGG ATCGCTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGG GTGCGGTTCTCTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGGCTG TGGAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCG GGACTGTGGAGGGTGCGGATCGCTCCTGGGGCTGTGGAGGGTGCGGTTCA CTCCCGGGA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA20300.hp1 HG02015.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0155 a0001c0001t0002g0082 a0001c0001t0001g0155 a0001c0001t0002g0082	2	286	0.0070	-308	c.208 others(19): Show c.208-25827_208-25520del	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYRM4_chr6_5103419_5265950	5135038	GCTGTGGA others(301): Show GCTGTGGAGGGTGCGGATCGCTCCCGGGACTGTGGAGGGTGCGGTTCACT CCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGACTGTGGAGGGTGCGG ATCGCTCCCGGGGCTGTGGAGGGTGCGGTTCTCTCCCGGGGCTGTGGAGG GTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGGCTG TGGAGGGTGCGGTTCACTCCCGGGACTGTGGAGGGTGCGGATCGCTCCTG GGGCTGTGGAGGGTGCGGTTCACTCCCGGGACTGTGGAGGGTGCGGATCG CTCCCGGGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0023 a0002c0002t0004g0023	1	286	0.0035	-308	c.208 others(19): Show c.208-25855_208-25548del	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
MLPH_chr2_237482251_237560322	237544833	GTGTGGGG others(301): Show GTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCACAGT AGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACA GTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGAGTGGGGGCAC AGTGGTGAGTGGGGACAGTGGGTGGAGGGGGCACTATTGGTAGGGGGGAC AATTATTGGGGGGGGGCACTAATTGTGAGGGGGGACCAGTGTTGAGTGGG GGAATAGTT	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	286	0.0035	-308	c.154 others(19): Show c.1540-1772_1540-1465del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MRPS25_chr3_15043512_15070315	15062198	TGCCGCCC others(301): Show TGCCGCCCCTAATGCGAAGTGAGGAGCCCCTCTGGCCCGGGCCAGCCGCC CGGTCCGGGAGGGGAGGTCAGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGTGAGGGGGCGCCTCTGCCCGGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCG CCTCTGCCC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0066 a0001c0001t0026g0066	1	368	0.0027	-308	c.134 others(17): Show c.134+2555_135-2724del	MRPS25	ENSG00000131368.9	transcript	ENST00000253686.7	protein_coding	1/3			chr3	TogoVar
NIPA1_chr15_22781644_22834789	22830435	CGAGGCAG others(301): Show CGAGGCAGGAGAATCACTTGAACCTGAGAGGCAGAGGTTGCAGTGAGCCG AGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCT CAAAAACAAAACAAAACAAAACAAAAAAGGCCAGGTGCGGTGGCTCACGC CTATAATCCCAGCACTTCAGGAGGCCAAGGCAGGCAGATCACGAGGTCAG GAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAA ATACAAAAATTAGTTGTGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACT CCAGAGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	400	0.0025	-308	c.61 others(11): Show c.6197_*6504del	NIPA1	ENSG00000170113.16	transcript	ENST00000337435.9	protein_coding		647		chr15	TogoVar
NOC4L_chr12_132139457_132157468	132148890	ACCTCGGT others(301): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03471.hp1 HG02622.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0083 a0002c0002t0003g0186 a0002c0002t0001g0083 a0002c0002t0003g0186	2	294	0.0068	-308	c.901 others(14): Show c.901+62_901+369del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX5_chr17_3668227_3701155	3685656	CTCCCAGC others(301): Show CTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTC CCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCC CAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAG AACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCG CCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGG GCCCCCAGG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp2 HG01258.hp2 others(6): Show HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG02015.hp1 HG03942.hp1 NA18994.hp1 NA19012.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0114 a0002c0002t0001g0009 a0002c0002t0001g0119 others(5): Show a0001c0001t0002g0114 a0002c0002t0001g0009 a0002c0002t0001g0119 a0002c0002t0001g0163 a0002c0002t0001g0173 a0002c0002t0002g0126 a0002c0002t0002g0164 a0002c0002t0002g0166	9	362	0.0249	-308	c.981 others(17): Show c.981+2048_981+2355del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PALM_chr19_703935_753329	735426	ATGGGATC others(301): Show ATGGGATCCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGATGTCTGGGGG CCCAGGTGCCTGTGTCCGGGTGTCTGGGTGGGATCTGTGTGTCTGAGGGC CCAGGTGCCTGTCTGGGTGTCTGGGGGCCCAGGTTCCTGTGTCTGGGTGT CTGGGTGGGATCCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGGTGTCTG GGGGCCCAGGTGCCTGTGTCCGGGTGTCTGGGTGGGATCCGTGTGTCTGA GGGCCCAGGTGCCTGTCTGGGTGTCTGGGGGCCCAGGTTCCTGTGTCTGG GTGTCTGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(72): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02074.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03579.hp1 HG03710.hp1 HG04199.hp2 HG04204.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18980.hp2 NA18997.hp1 NA19003.hp2 NA19005.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19068.hp1 NA19087.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0002 a0002	a0002c0001 a0002c0005 a0002c0006 others(2): Show a0002c0001 a0002c0005 a0002c0006 a0002c0007 a0002c0008	a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 others(7): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0005 a0002c0001t0007 a0002c0005t0003 a0002c0005t0019 a0002c0006t0001 a0002c0007t0004 a0002c0008t0002	a0002c0001t0001g0137 a0002c0001t0001g0151 a0002c0001t0001g0153 others(69): Show a0002c0001t0001g0137 a0002c0001t0001g0151 a0002c0001t0001g0153 a0002c0001t0001g0169 a0002c0001t0001g0297 a0002c0001t0002g0002 a0002c0001t0002g0008 a0002c0001t0002g0036 a0002c0001t0002g0038 a0002c0001t0002g0041 a0002c0001t0002g0042 a0002c0001t0002g0048 a0002c0001t0002g0057 a0002c0001t0002g0061 a0002c0001t0002g0063 a0002c0001t0002g0064 a0002c0001t0002g0066 a0002c0001t0002g0081 a0002c0001t0002g0082 a0002c0001t0002g0084 a0002c0001t0002g0148 a0002c0001t0002g0156 a0002c0001t0002g0160 a0002c0001t0002g0161 a0002c0001t0002g0162 a0002c0001t0002g0168 a0002c0001t0002g0170 a0002c0001t0002g0171 a0002c0001t0002g0174 a0002c0001t0002g0175 a0002c0001t0002g0177 a0002c0001t0002g0178 a0002c0001t0002g0179 a0002c0001t0002g0207 a0002c0001t0002g0208 a0002c0001t0002g0209 a0002c0001t0002g0210 a0002c0001t0002g0212 a0002c0001t0002g0226 a0002c0001t0002g0227 a0002c0001t0002g0229 a0002c0001t0002g0230 a0002c0001t0002g0231 a0002c0001t0002g0240 a0002c0001t0002g0285 a0002c0001t0002g0323 a0002c0001t0002g0327 a0002c0001t0002g0341 a0002c0001t0002g0343 a0002c0001t0002g0366 a0002c0001t0002g0384 a0002c0001t0004g0338 a0002c0001t0004g0339 a0002c0001t0005g0089 a0002c0001t0007g0273 a0002c0001t0007g0276 a0002c0005t0003g0077 a0002c0005t0003g0181 a0002c0005t0003g0288 a0002c0005t0003g0344 a0002c0005t0019g0176 a0002c0006t0001g0173 a0002c0006t0001g0206 a0002c0007t0004g0073 a0002c0007t0004g0146 a0002c0007t0004g0159 a0002c0007t0004g0163 a0002c0007t0004g0196 a0002c0007t0004g0228 a0002c0008t0002g0040 a0002c0008t0002g0067 a0002c0008t0002g0172	75	404	0.1856	-308	c.443 others(15): Show c.443-554_443-247del	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALM_chr19_703935_753329	735465	ATGTCTGG others(301): Show ATGTCTGGGGGCCCAGGTGCCTGTGTCCGGGTGTCTGGGTGGGATCTGTG TGTCTGAGGGCCCAGGTGCCTGTCTGGGTGTCTGGGGGCCCAGGTTCCTG TGTCTGGGTGTCTGGGTGGGATCCGTGTGTCTGAGGGCCCAGGTGCCTGT CTGGGTGTCTGGGGGCCCAGGTGCCTGTGTCCGGGTGTCTGGGTGGGATC CGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGGTGTCTGGGGGCCCAGGTT CCTGTGTCTGGGTGTCTGGGTGGGATCCGTGTGTCTGAGGGCCCAGGTGC CTGTCTGGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02572.hp1 others(4): Show HG02257.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02723.hp2 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0015 a0001c0003t0001 others(2): Show a0001c0002t0002 a0001c0002t0015 a0001c0003t0001 a0001c0003t0007 a0001c0003t0016	a0001c0002t0002g0032 a0001c0002t0002g0035 a0001c0002t0015g0242 others(4): Show a0001c0002t0002g0032 a0001c0002t0002g0035 a0001c0002t0015g0242 a0001c0003t0001g0033 a0001c0003t0001g0267 a0001c0003t0007g0272 a0001c0003t0016g0271	7	404	0.0173	-308	c.443 others(15): Show c.443-444_443-137del	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PKP3_chr11_389209_409908	400842	GCCCCGCT others(301): Show GCCCCGCTCACCCCCGACCCCGCTCACACCCGCCCCGCTCACCCCCGCCC CGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACC CCGGACCCCGCTCACCCCGGACCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTCACACCT	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0097	1	216	0.0046	-308	c.173 others(17): Show c.1737+138_1737+445del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLEKHG4B_chr5_87168_194966	165445	TGGGGCGG others(301): Show TGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATG CTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACA CTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGG CTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGTG GCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCT GACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAA TGCTCTGAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0107 a0001c0001t0073g0107	1	210	0.0048	-308	c.347 others(19): Show c.3476+1913_3476+2220del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PTK7_chr6_43071314_43166715	43106869	GCCTCCCA others(301): Show GCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCT TCCCTGAATTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGG CTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCCAGG TTAAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGTG TGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCGGATTTT CACCTTGTGGGCCAGACTGGTCTCGAACTCCTGACCTCAAGGTGATCTGC CATCCTCGA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0006 a0007c0020t0006	a0007c0020t0006g0226 a0007c0020t0006g0226	1	272	0.0037	-308	c.80- others(17): Show c.80-22071_80-21764del	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNGTT_chr6_88604897_88968618	88714433	GTAAAAGT others(301): Show GTAAAAGTACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG00735.hp1 others(89): Show HG00099.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01258.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp1 NA18956.hp2 NA18960.hp2 NA18965.hp1 NA18983.hp1 NA18989.hp2 NA19001.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp2 NA19072.hp2 NA19082.hp2 NA19084.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0002t0009	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(89): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0168 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0034 a0001c0001t0002g0129 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0212 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0003g0141 a0001c0001t0003g0197 a0001c0001t0003g0218 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0093 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0135 a0001c0001t0004g0150 a0001c0001t0004g0160 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0149 a0001c0001t0005g0153 a0001c0001t0005g0157 a0001c0001t0005g0161 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0006g0130 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0008g0103 a0001c0001t0008g0183 a0001c0001t0009g0011 a0001c0001t0011g0158 a0001c0001t0014g0028 a0001c0001t0016g0220 a0001c0002t0009g0005	92	220	0.4182	-308	c.144 others(21): Show c.1440-36322_1440-36015del	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RRP12_chr10_97351701_97406340	97398045	TTTTTTTT others(301): Show TTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18983.hp1 NA18980.hp2 NA18983.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0265 a0003c0002t0001g0266 a0003c0002t0001g0265 a0003c0002t0001g0266	2	400	0.0050	-308	c.369 others(17): Show c.369+1952_370-1745del	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
S1PR4_chr19_3173769_3185332	3175002	TGGGACAC others(301): Show TGGGACACCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGT GTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGCCCTCATGGG ACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGTT CTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGC CTGTGCCCCTCATGGGACACCTGTGTTCTCATGGGACGCCTGTGCCCTCA TGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTG TGTTCTCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03139.hp1 NA21309.hp2 HG02976.hp2 HG03139.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	418	0.0072	-308	c.-37 others(11): Show c.-3790_-3483del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3766		chr19	TogoVar
SAMD11_chr1_918923_949574	934008	AGGGGAGG others(301): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCG TTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCG GCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGG GAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGG GCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTAC AGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0362 a0001c0004t0027g0362	1	434	0.0023	-308	c.843 others(17): Show c.843-1736_843-1429del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCML4_chr6_107697154_107829313	107783141	GAGGTGCT others(301): Show GAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCC TGATGGGAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAG TTTGCCTGATGGGAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGG TCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAGTTTGCCTGATGGCAGG TGCTGGTCTGAGTTTGCCTGATGGGAGGAGCTGGTCTGAGTTTGCCTGAT GGGAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTG CCTGATGGC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp1 NA18945.hp2 others(1): Show HG03041.hp1 HG03225.hp1 NA18945.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0019 a0001c0003t0007 a0001c0001t0003 a0001c0001t0019 a0001c0003t0007	a0001c0001t0003g0058 a0001c0001t0019g0075 a0001c0003t0007g0048 others(1): Show a0001c0001t0003g0058 a0001c0001t0019g0075 a0001c0003t0007g0048 a0001c0003t0007g0051	4	250	0.0160	-308	c.-59 others(19): Show c.-59-11063_-59-10756del	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar

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Search Results (Total: 10000 hits)