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
FRYL_chr4_48492357_48785279	48659514	GGGAGAAG others(404): Show GGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGAAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG00735.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0109 a0001c0002t0001g0110	2	282	0.0071	-411	c.-81 others(19): Show c.-81+24748_-80-25025del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
GRID2_chr4_92298966_93779566	92652603	GCCTGGAA others(404): Show GCCTGGAAAGTTGAGGCTGCAGTGAGCTGTCATTCCCTCCAAACTGAGTG ACAGAGTGGAACACTGTCTTAAAAATATGTAATTTTGGCCGGGCGCGGTG GCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGGGGGGGTTGGGGGGT GGATCACAAGATCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAAAA AAAAATATATATATATATATAAATATATATAAATTTATAAATATATATAT AATATATAAATACATATAAATATATAAAAATATATTTATAAATACATATA AATATATATTTATAAATACATATAAATATATATAAACATATATTTATAAA TATATATAAACATATTTATAAATACATATAAATATATATAAATATATATA AATACATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02698.hp1 NA18950.hp1 HG02055.hp1 HG02698.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0002t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0002t0001g0015	3	34	0.0882	-411	c.244 others(19): Show c.244+62318_244+62728del	GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	2/15			chr4	TogoVar
LENG8_chr19_54444199_54467016	54463949	GTTCCCGG others(404): Show GTTCCCGGTGATTTACATGTGGTGCCCCGCCCCTTTCCTGGTGATTTACG AGTGCCCCACCCCTTTTAGGTGATTTTTTTTTTTTTTTATGTGTGCCTCT CCCCTTCCCAAGTGATTTACATATGTTCCCCGCTCCTTTCAGGGTAATTT ACATGTAATGCCCCGCCCCTTTCCGGGTGATTTACGAGTGCCTCTCCCCT TCTCAAGTGATTTACATGTGTCCCGCCCCGTTCCGGGTGATTTACATGCG TGCCCTGGCCCTTTCCCAGTGATACTTTTGTGCTGCCTCTTTCCGGGTGA TTTACGTGTGTGCCTCTCCCCAAGTGATTTACATGTGTGCCCTGTCCGTT TTAAGGTGATTTACATGTGGTGCCCCGCCCCTTTCCGGGTGATTTACCTG TGTCCCATCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	431	0.0023	-411	c.30 others(11): Show c.3022_*3432del	LENG8	ENSG00000167615.18	transcript	ENST00000326764.10	protein_coding		1934		chr19	TogoVar
LENG9_chr19_54456732_54468778	54463949	GTTCCCGG others(404): Show GTTCCCGGTGATTTACATGTGGTGCCCCGCCCCTTTCCTGGTGATTTACG AGTGCCCCACCCCTTTTAGGTGATTTTTTTTTTTTTTTATGTGTGCCTCT CCCCTTCCCAAGTGATTTACATATGTTCCCCGCTCCTTTCAGGGTAATTT ACATGTAATGCCCCGCCCCTTTCCGGGTGATTTACGAGTGCCTCTCCCCT TCTCAAGTGATTTACATGTGTCCCGCCCCGTTCCGGGTGATTTACATGCG TGCCCTGGCCCTTTCCCAGTGATACTTTTGTGCTGCCTCTTTCCGGGTGA TTTACGTGTGTGCCTCTCCCCAAGTGATTTACATGTGTGCCCTGTCCGTT TTAAGGTGATTTACATGTGGTGCCCCGCCCCTTTCCGGGTGATTTACCTG TGTCCCATCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0000 a0003c0003t0004g0000	1	421	0.0024	-411	c.-83 others(9): Show c.-834_-424del	LENG9	ENSG00000275183.2	transcript	ENST00000611161.2	protein_coding		172		chr19	TogoVar
MINAR1_chr15_79427336_79477304	79438254	GAGTGTGT others(404): Show GAGTGTGTGGGGTGTGGATGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGG CTGGTAGTGTGTGGAGTGTGGGGTGGGTAGTGAGTGTGGGGTGTGGGTGT GTAGTGTGTGGGGTGTGGGTGTGAGTGGGTAGTGTGTGGGGTGTGGATGG GGTGGGTAGTGAGTGTGTGGAGTGTGGGGTGGGTAGTGAGTGTGTGGAGT GTGGGTGTGGGTGGGTAGTGTGTGGGGTGTGGGGTGGGTGGGTAGTGTGT GGGGTGTGGGGTGGGTGGGTAGTGTGTGGGGTGTGGGTGTGGGTGGGTAG TGAGTGTGTGGGGTGTGGATGGGGTGGGTAGTGAGTGTGTGGGGTGTGGG TGGGGTGGGTAGTGAGTGGGGTGTGGATGGGGTGGGTAGTGAGGGTGTGG GTGTGGGAGCAT	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0053 a0003c0005t0003g0053	1	390	0.0026	-411	c.-51 others(17): Show c.-51+5750_-51+6160del	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEGR1_chr1_71390943_72287539	71983937	AAATTGTT others(404): Show AAATTGTTCTACCAGTCATAGAATCAGAATGCTAAAGGAGTCTCAAAACT TTCATTAATCAAACTATGAAATTAATAAAATGTGTCTCTGAAAGATGTTA TGCCATTCCATTTTACCATGTAAAGCTAGCCCCCAGTAAAAGGAGTTCAA GTTTGTCATTTCAGTTATCTCTATGCTATCCTTTGATTCATTATTTTTCT CCCTCATTCCCATTTTCTCTTTACTGCCTCCTGCCCACCCATAGCCTTAT AATCCTAACTTTTGGCTACACAATTTAGTCATCACCTATTGTGTACAATT ACTTCAGGTCCTACTGCTCAACAGAATATTTATTCTGTTAAAATAACTTT TTTTTAATTAAAAAAATGATTTGTAGATACAGGGTCTCACCATGTTGCCT AGACTGGTCTCG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01433.hp2 HG01515.hp2 others(3): Show HG00597.hp1 HG01433.hp2 HG01515.hp2 HG01934.hp1 HG03041.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0018 a0001c0002t0002 a0001c0002t0010	a0001c0001t0001g0037 a0001c0001t0002g0033 a0001c0001t0016g0020 others(3): Show a0001c0001t0001g0037 a0001c0001t0002g0033 a0001c0001t0016g0020 a0001c0001t0018g0001 a0001c0002t0002g0053 a0001c0002t0010g0005	6	64	0.0938	-411	c.177 others(19): Show c.177-49037_177-48627del	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NKD2_chr5_1003802_1043943	1025514	GTTGTCCC others(404): Show GTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCGTTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCTCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGT GGGTGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCC AGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTG TCCCTGCTCTTCCCACCCTCTGTGGGTGCCCCAGCCCATTGTCCCTGCTC TTCCCACCCGCTAGTGGGCATCTCAGCCCGTTGTCCCTGCTCTTCCCACC CGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGG CGTCCCAGCCCA	G G	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	319	0.0031	-411	c.142 others(17): Show c.142-6618_142-6208del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026161	CGTCCCAG others(404): Show CGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGC CCATTGTCCCTGCTCTTCCCACCTGCTAGTGGGCGTCTCAGCCCATTGTC CCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTT CCCACCCGCTGTGGGCGTCTCGGTCCATTGTCCCTGCTCTTCCCACCCTC TGTGGGCGTCTCGGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CCCAGCCCTTTTTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCA TTGTCCCTGCTCTTCCCATCTGCTGTGGGCGTCTCAGCCCATTGTCCCTG CTCTTCCCACCCGCTGTGGGTGTCCCAGCCCATTGTCCCTGCTCTTCCCA CCCTCTGTGGGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG01106.hp1 others(4): Show HG00408.hp2 HG00558.hp1 HG01106.hp1 HG02738.hp2 NA18965.hp2 NA19043.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0051 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0161 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0001g0236	7	319	0.0219	-411	c.142 others(17): Show c.142-5980_142-5570del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
PKP3_chr11_389209_409908	402040	CGACCCCC others(404): Show CGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCA CCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCC ACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCAGACCCCCGGC CCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCC GCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGG CCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACC CCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCT CACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCT CCACTGACCCCG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	216	0.0046	-411	c.173 others(18): Show c.1738-1036_1738-626del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRKCA_chr17_66297613_66815743	66799046	ATGGTGAT others(404): Show ATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGG TGGTGGTGATGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0034 a0001c0009t0034	a0001c0009t0034g0158 a0001c0009t0034g0158	1	178	0.0056	-411	c.185 others(19): Show c.1855-4821_1855-4411del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SARDH_chr9_133658560_133743352	133668454	TCCCTCGC others(404): Show TCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCC TCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTC CCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCC CTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCCCTAC CCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACC CTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCC TCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTC ACCCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTC ACCCTCCATCTC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	262	0.0038	-411	c.249 others(19): Show c.2495+1719_2496-1585del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SIGIRR_chr11_400716_419999	402040	CGACCCCC others(404): Show CGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCA CCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCC ACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCAGACCCCCGGC CCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCC GCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGG CCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACC CCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCT CACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCT CCACTGACCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03540.hp1 HG02630.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0035 a0001c0004t0001g0229 a0001c0001t0002g0035 a0001c0004t0001g0229	2	242	0.0083	-411	c.34 others(11): Show c.3445_*3855del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3675		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070916	GAGCCCCC others(404): Show GAGCCCCCAGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGC CCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAG CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGTA TCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	118	0.0085	-411	c.224 others(19): Show c.2241+2306_2241+2716del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC9A5_chr16_67243979_67277191	67263075	GCCAAGTG others(404): Show GCCAAGTGGTGAGGTAAGGAGTGAAGATACAGGAGAGTGGAGGAATAGGA GGCAGCAGGAACTGCTGGAGGCAGGAAGGAGGGAACTGAGCAATGTGGAG GCCGGGGCTGGGCAGCAATGAGCCTTGTGAAGGAGATGGACCCCTTCTCC CCAGGAGAGAGGGTACCTCCTGGTGCATAGGTAGATGAGGAGGGCAGATG GAAGACTTGAAGGGGGCTCTTAGAACTGGTTCAGGGAAGCAGAAAATATG AGATAAAGGGACCAGACTTGGGATTTGAGGCAAGATAAGATGATTTGGCA GGCACTGGGAAGCATTTCAGGGGATTACCACTAGATGATGAAAAGGTGCT AAGCAAGGAGGGTAGAGGCAGAGGCAGTCTAGGTGAGTGTGTAGCGGGCT TGGTGTTGATAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG01192.hp1 others(1): Show HG00323.hp1 HG00735.hp2 HG01192.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0157 others(1): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0157 a0001c0001t0001g0165	4	204	0.0196	-411	c.184 others(18): Show c.1843-1276_1843-866del	SLC9A5	ENSG00000135740.17	transcript	ENST00000299798.16	protein_coding	12/15			chr16	TogoVar
SOX11_chr2_5687384_5706385	5705455	GAGAAGCT others(404): Show GAGAAGCTGGGGGTACCAGGTTGGAAGAACAGGGGAGGCAGGGATGTAGA AGCTGCAAGGACCAGGGTGGAGGAGCTAGGGGAGTAGGGGTGGAGGAGCC GGTGAGAAAGGGGTGGAGGAGTAGGGGATGCCAGGGTGGAGGAGTTGAGG AGAATGGGGTGGAGGAGCAGGGGAAGCAGGGGTGGAGGAGCTGGGGTGGC CGAGGTGGAGGAGCAGGGGAGGCCAGGGTGGAGGAGCCGAGAAGGGGTGG AGCTGGGGAGGCCGGGGTGAAGGAGTTGGGGGGACTTGGATGGAGGAGCA AGGGAGGCAGGGGTGGAGGACCTGAGAAGGGGTGGAGTTTGGGAGTCTGG GGAGGAGGAGCTGGGGAGGTCAGGGTGGAAGAGTTGAGACCTAGCTGGAG GAGCTGGGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03516.hp1 HG01891.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0181 a0001c0001t0192 a0001c0001t0181 a0001c0001t0192	a0001c0001t0181g0000 a0001c0001t0192g0000 a0001c0001t0181g0000 a0001c0001t0192g0000	2	434	0.0046	-411	c.11 others(13): Show c.11409_*11819del	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4071		chr2	TogoVar
SYTL3_chr6_158645054_158769871	158704857	CAGGGCAG others(404): Show CAGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGAC CCAGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGA CCCAGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGG ACCCGGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGG GACCCGGGGCAGGGTGACAGTGAGGGCTATAAGGCCACATAGGGCAGGAG GGACCTGGGGACAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGG AGGGACCCAGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAG GAGGGACCTGGGGACAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGC AGGAGGGACCTG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03688.hp2 HG02257.hp2 HG03688.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0067 a0003c0004t0001g0208 a0001c0001t0001g0067 a0003c0004t0001g0208	2	292	0.0069	-411	c.395 others(17): Show c.395-2372_395-1962del	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17			chr6	TogoVar
XXYLT1_chr3_195063284_195276159	195143873	TATATATA others(404): Show TATATATATATATATATTTATTTTTTATTTTTATTTTTTTTTTGAGATGG ACTCTTGCTGTCATCCAGGCTGGAGTGCAAGGGCGAGATCTTGGCTCACT GCAACCTCTGCTTCCAGGTTCAAGCAATTCTCCTGCTCAGACTCCCAAGT AGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTGATTTTTGTATTTT TATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTG ACCTTAAGTGATCCACCTGCCTGGGCCTCCCAAAGTGCTAGGATTACAGG CATGAGCCACCGTGCCTGGCCAACCGCCCACTCCACTCCATCTCGAGTGT GATATGGCATGTGGACCGGGGACTGGGCCTCTTCTAATCTGATCGGTGCA AATGGCTGGCTA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01261.hp2 HG02040.hp2 others(4): Show HG00544.hp1 HG01261.hp2 HG02040.hp2 HG02080.hp1 HG02132.hp2 NA18747.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0136 others(4): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0168 a0001c0001t0005g0010 a0001c0001t0005g0057	7	198	0.0354	-411	c.785 others(19): Show c.785+12165_785+12575del	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3			chr3	TogoVar
ZFP69_chr1_40472290_40501343	40496682	AAAAGAAT others(404): Show AAAAGAATAAGTAGGCACTTTATATAGTGAAGAGGAATGACATCTATGAT ATATTGTTTGGTTTTTGTTTTTGAGACAGGGTCTCACTCTGTTGCTCAGG CTGGAGTGCAGTTGGTATGATCATGGTTCACTGCAGCCTCAATCTCCCAG GCTCAAGCAAACCTCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTG AGTGCCACCATCACACCTAGCTAATCTTTAATTTTTTTTCTAGAGACAGA GTATCACTATATCGCGCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAGTC CTTCTGTCTTGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCAAGGC AACCGGCCTATATTATCATGTAATAAAAGTAACATGCAGGCTGCGCGCAG TGGCTCACGCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(61): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01891.hp2 HG01928.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02135.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 NA18906.hp2 NA18945.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18956.hp2 NA18973.hp2 NA18991.hp2 NA19009.hp2 NA19012.hp1 NA19064.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0003c0005 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0007t0007 a0002c0002t0003 a0002c0002t0005 a0003c0005t0003 a0006c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0028 others(45): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0003g0176 a0001c0001t0006g0004 a0001c0001t0006g0029 a0001c0001t0011g0101 a0001c0001t0013g0057 a0001c0007t0007g0283 a0002c0002t0003g0010 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0005g0040 a0002c0002t0005g0041 a0002c0002t0005g0173 a0003c0005t0003g0042 a0006c0008t0001g0069	64	404	0.1584	-411	c.62 others(10): Show c.624_*1034del	ZFP69	ENSG00000187815.10	transcript	ENST00000372706.6	protein_coding		340		chr1	TogoVar
ZNF516_chr18_76352682_76500242	76394271	TCAGGTGG others(404): Show TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGG	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0050 a0001c0001t0022g0050	1	346	0.0029	-411	c.181 others(21): Show c.1811-14379_1811-13969del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ACAP3_chr1_1287391_1312930	1288668	TGTCTCTG others(403): Show TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCG AGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	295	0.0034	-410	c.44 others(11): Show c.4486_*4895del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3722		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289261	TCCCCCGT others(403): Show TCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	295	0.0034	-410	c.38 others(11): Show c.3893_*4302del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3129		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1239820	CCCTCCCG others(403): Show CCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCT CCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTT ACTCCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0040 a0001c0001t0049g0040	1	106	0.0094	-410	c.136 others(19): Show c.1361+1901_1361+2310del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AGPS_chr2_177387773_177548834	177422908	TCTACTGA others(403): Show TCTACTGAGTTACCTTACAATAACCCTATCAGATGGATAGAGTTACCTTC TTAAAAATAATGAGGATGAGGAAAGTTAAGTAGCTTACCTGAAGTCACCT GCATAGTGGTAAATTGGGATTAAAAACCAGGTGTTTTTTTAAACTTCATT CTTCTGCAGTTTCTATTATACTGTGCTTCTGAGTTATTTCTGTAGATAAC TAAACTCATCCACTGTACTGATCTTGTTCTGTCTTCAAACCCTGGGAGCA CTACACTCTGTATACCAGCACGGTAGAATTAGTCATATTATAAAAGGTTA TCTTGTGTCAAAAATTCCTATTGTTACTGTGAAAGGCAAAGGGGAGAAGC GTAAGAAGATTGTGATATTCCTGAAAGAGAAAATGGAATTCATGACTACG AAGACTGAGTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(124): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18975.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp1 NA18987.hp1 NA18992.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19078.hp2 NA19082.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(25): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0032 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0002t0009 a0001c0002t0013 a0001c0002t0034	a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 others(124): Show a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0252 a0001c0001t0005g0104 a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0008g0220 a0001c0001t0009g0091 a0001c0001t0009g0146 a0001c0001t0009g0155 a0001c0001t0009g0162 a0001c0001t0010g0123 a0001c0001t0010g0147 a0001c0001t0010g0170 a0001c0001t0010g0205 a0001c0001t0012g0014 a0001c0001t0012g0015 a0001c0001t0012g0016 a0001c0001t0013g0018 a0001c0001t0013g0188 a0001c0001t0016g0212 a0001c0001t0016g0213 a0001c0001t0016g0214 a0001c0001t0018g0215 a0001c0001t0018g0221 a0001c0001t0019g0113 a0001c0001t0019g0114 a0001c0001t0020g0126 a0001c0001t0022g0134 a0001c0001t0022g0135 a0001c0001t0024g0098 a0001c0001t0024g0174 a0001c0001t0029g0166 a0001c0001t0032g0210 a0001c0001t0037g0019 a0001c0001t0038g0181 a0001c0001t0039g0164 a0001c0001t0041g0099 a0001c0001t0042g0148 a0001c0001t0043g0143 a0001c0001t0044g0149 a0001c0001t0047g0150 a0001c0001t0049g0001 a0001c0001t0050g0001 a0001c0002t0009g0204 a0001c0002t0013g0206 a0001c0002t0034g0211	127	258	0.4923	-410	c.350 others(17): Show c.350+2552_350+2961del	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALDH3A2_chr17_19643751_19682596	19668597	TTAGAAAA others(403): Show TTAGAAAAGCTTTCCCTATTTCATTATTATATAAATATCATCTGTAGGCT GGGTGCGGTTGCACACACCTGTAATCCCAGCACTTGGGGAGGCCAAGGCA CCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CTGGGTGTGGCGGCACCACCTGTAATCCCAGCTACTTAGGAGGCTGAGGC AGTAGAATCACTTGAACCCTGGAGGCGGAGGTTGCAGTGAGCAGAGAGTG CACCACTGTACCTCCAGCTTGGGCAACAGAGCGAGACTCTGTCTCAAAAA AATAAGAATAAAATAAATAAATAATTAAATATTATCTGTAGTTTCCTTCC CTCCCTCCCTCCTTTTCTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTT CCATTTAACCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(136): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02602.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(50): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0002g0021 a0001c0001t0002g0044 a0001c0001t0003g0035 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0011g0011 a0001c0001t0012g0035 a0001c0001t0015g0002 a0001c0001t0018g0146 a0003c0004t0001g0160	139	366	0.3798	-410	c.120 others(19): Show c.1208-3122_1208-2713del	ALDH3A2	ENSG00000072210.19	transcript	ENST00000176643.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
CPNE7_chr16_89570758_89602246	89587713	ATAGCACC others(403): Show ATAGCACCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGT GTCACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCC CGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCACA GATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCA CAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTAC CCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATA CACGGCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0104	1	348	0.0029	-410	c.927 others(15): Show c.927+613_928-551del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587716	GCACCCCC others(403): Show GCACCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTC ACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGT GTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGAT ACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCG TGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAG ATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCA CAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACAC GGCCCCCGTGT	G G	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	348	0.0029	-410	c.927 others(15): Show c.927+620_928-544del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587722	CCGTGTCA others(403): Show CCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGATACACGG CCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACAC GGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATA CACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCG TGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCC CGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	348	0.0029	-410	c.927 others(15): Show c.927+673_928-491del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DLGAP2_chr8_732628_1713476	1033838	GCCCCGCG others(403): Show GCCCCGCGTGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCCCGCGT GTCACCGCGAGTGGACTCACACCCTCATCCCGACCCCATGTGTCACCGCG AGTGGACTCACACGCTCATCCCGACCCCGCGTGTCACCGTGAGTGGACTC ACACCCTCATCCCGACCCCGCGTGTCACCGCGAGTGGATTCACACGCTCA TCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCC CGCGTGTCACCGCGAGGGGACTCACACCCTCATCCCGACCCCACGTGTCA CCGCGAGTGGACTCACACGCTCATCCCGACCCCGCGTGTCACAGCAAGCG GGTTCACAGCCTCATCCCGACCCTGCGTGTCACCGCGAGTGGATTCACAC GCTCATCCCGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	40	0.0250	-410	c.73+ others(19): Show c.73+125896_73+126305del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137565780	ACTCTGTC others(403): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 homoSapiens_chm13v2.hp1 HG03490.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0104 a0001c0001t0001g0109	2	340	0.0059	-410	c.641 others(16): Show c.641-1036_641-627del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ETV5_chr3_186041314_186114089	186071683	GGTGGCTC others(403): Show GGTGGCTCAGGCCTGTAATCCCCACACTTTGGGAGCTCGAGGCGGGCAGA TCACCTTGTGAGTTCCTTACATGAGGTCGGGAGTTTGAGACCAGCCTGAC CAACACGGTGAAACCTGTAACCGTTTCACCGTTGACATGGAGTGTCGCTC TGTCGTCCAGGCTGGAGTTCAGTGGCGCGATCTCGGCTCACCGCAACCTC CGCCTCTCGGGTTCAAGCAATTCTACTGACTCAGCCTCCCAAGTAGCTGG GATTACAGGTGCCTGCCACCACACATGGCTAATTTTTTTGTATTGTTAGT AGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTTTCAAACTCCTGACCT CAAGTGATCCACACACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTC AGCCTGTAGCA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG01433.hp1 others(4): Show HG01099.hp1 HG01109.hp1 HG01433.hp1 HG03017.hp1 HG03704.hp1 HG04184.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0160 a0001c0001t0007g0161 others(3): Show a0001c0001t0007g0012 a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0163 a0001c0001t0007g0164	7	340	0.0206	-410	c.651 others(17): Show c.651-6021_651-5612del	ETV5	ENSG00000244405.8	transcript	ENST00000306376.10	protein_coding	7/12			chr3	TogoVar
FAM210A_chr18_13658347_13731558	13674853	TTGATTTC others(403): Show TTGATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTCTTTA TTTCCAGTTTCCTGATTATTAACATTCCTGAGCCGTGACTTATTTCCAGT TTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCTGTTTCC TGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCTGTTTCCTGAT TATTAACATTCCTGAGCCCCAACTTCATTATTTCCAGTTTCCTGATTATT AACATTCCTGAGCCGTGACTTCTTTATTTCCAGTTTCCTGATTATTAACA TTCCTGAGCCCCAGCTTCTTTATTTCCTGTTTCCTGATTATTAACATTCC TGAGCCCTGGCTTCTTTATTTCCTGTTTCCTGATTATTAACATTCCTGAG CCCCGACTTCA	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0139 a0001c0001t0023g0139	1	326	0.0031	-410	c.474 others(17): Show c.474-3290_474-2881del	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
INPP5A_chr10_132532787_132788480	132718019	AGTTCTGT others(403): Show AGTTCTGTCTGGGCGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTGCGT GGGTTCTGTCTGGGTGCCTTAGACGGCCGTCTTCAGGGTTCTGTGGTACC TGGGAGCTGTCTGGGCGCCTTAGACAGCTGTCTTCAGGGTTCTGTGGTAC CTGGGTTCTGTCTGGGCGCCTTAGACGGCTGTCTTCAGGGTTCTGTGGTA CCTGGGTTCTGTCTGGGCACCTTAGACGGCTGTCTTGCGGGTTCTGTGGT ACCTGGGTTCTTTCTGGGGGCGCCTTAGACAGCTGTCTTCAGGGTTCTGT GGTACCTGGGTTCTGTCTGAGCACCTTAGACAGCTGTCTTCAGGGTTCTG TGGTGCCTGGGTTCTGTCTGGGCGCCTTAGACGACTGTCTTGCGGGTTCT GTGGTACCTGG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0078 a0001c0001t0014g0078	1	204	0.0049	-410	c.647 others(17): Show c.647+7595_647+8004del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAD1L1_chr7_1810795_2237945	1930053	ACACTGCC others(403): Show ACACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCT GCCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCACAACCCCTCA TCCCGTCCCCTACTGCCACATCCCACCACCACGTCCACACTGCCACGTCC CCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCAC GTCCCCTCGCACAGTCCCCGATGCCACGTCACCTCGCCCCATCCCCCAAT GCCATGTCCCCTCGCCCCGTCCCCAGTGCCAGGTCCCCTCGCCCCATCCC CCAGTGCCACGTCCCCTCGCCCCATCCCCCAGTGCCACGTCCCCTCGCCC CGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTC GCCCCATCCCC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02280.hp1 others(5): Show HG02055.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG03195.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0165 a0001c0001t0001g0256 a0001c0001t0001g0257 others(5): Show a0001c0001t0001g0165 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0003t0001g0073	8	264	0.0303	-410	c.180 others(19): Show c.1807+6224_1807+6633del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MBD3L3_chr19_7051207_7063676	7054056	ATATGTAA others(403): Show ATATGTAATATATAATATATAATATATATAATATAATATAATTATATAAA ATTATATCATATTGTATTATAATTATATATTATATATAATATAGTTATGT ATAATTATATATTATATAATATAATATATATTATATTATATAATTAATAT ATATAATTATATATAATAATTAGATACCTATATATTATATAATTATATTA TATAATTAATAAATATATTACATATAATTATATAAATATAATATATAAAT ATAATTATAATACATAATATATATAATTATATAATATATAAATTATATTT TAATATATATAATTATATAATATACAAATTATAATTTAATATATAATATG TATAATTATATACTATATAAATTATATTATAATTTATAATATAATTATAT AACATATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	1	288	0.0035	-410	c.18 others(11): Show c.1856_*2265del	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2150		chr19	TogoVar
NEDD4L_chr18_58039226_58406539	58170315	AGGACAGA others(403): Show AGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAA CACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGC CCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCAT CACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCATCACCCCAGC CCAAGAGGACAGAACACTGCTGCCCACCTCATCACCCCAGCCCAAGAGGA CAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACT GCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGC CTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACC CCAGCCCAAGG	A A	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	118	0.0085	-410	c.122 others(17): Show c.122+4679_122+5088del	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NKD2_chr5_1003802_1043943	1023363	GCTGTGGG others(403): Show GCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCTC TGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTG TGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCT CAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATT GCCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCT CTTCCCACTCT	G G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	319	0.0031	-410	c.142 others(17): Show c.142-8707_142-8298del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023867	CCAGCCCA others(403): Show CCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCAT TGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGC TCTTCCCACCCGCTGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCAC CCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGG GCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAG CCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTC CCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTT CCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTC TGTGGGCGTCT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	319	0.0031	-410	c.142 others(17): Show c.142-8278_142-7869del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023874	ATTGTCCC others(403): Show ATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCT GCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCC ACCCGCTGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGT GGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTC AGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTG TCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTC TTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCC TCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGC GTCTCAGCCCG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02738.hp2 NA18944.hp2 others(2): Show HG00558.hp1 HG02738.hp2 NA18944.hp2 NA19007.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0129 a0001c0001t0001g0207 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0129 a0001c0001t0001g0207 a0001c0001t0001g0236	5	319	0.0157	-410	c.142 others(17): Show c.142-8258_142-7849del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025044	TCTGTGGG others(403): Show TCTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCC CTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCGTTGTCCC TGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTG TGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCT CAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTT GTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0117 a0001c0001t0015g0117	1	319	0.0031	-410	c.142 others(17): Show c.142-7100_142-6691del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025056	CCAGCCCG others(403): Show CCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGT TGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGC TCTTCCCACTCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCAC CCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGG GCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAG CCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTC CCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTT CCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGC TGTGGGCGTCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00621.hp1 others(56): Show HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18942.hp2 NA18945.hp2 NA18960.hp1 NA18972.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18992.hp2 NA18997.hp1 NA19067.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0017 a0002c0003 others(1): Show a0001c0001 a0001c0017 a0002c0003 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0017t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0017t0002 a0002c0003t0002 a0005c0009t0002	a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0002g0005 others(51): Show a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0264 a0001c0017t0002g0016 a0002c0003t0002g0155 a0005c0009t0002g0249	59	319	0.1850	-410	c.142 others(17): Show c.142-7028_142-6619del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
OIP5_chr15_41304273_41337591	41311822	TCTCAAAG others(403): Show TCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCAATAAG AATTCTTTTTTTTTTTTTCCACACAGAGTTTCGCTCTCAATGGCAAGCTC TCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTC AGCCTCCCGAAAAGCTGGGATTATAGGCATGCGCCAACACGCCCGGCTAA TTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTC TCAAACTCCCGACCTGAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCT GGGATTACAGGCATAAGCCACCATGCCCAGCCTTCTTTTTTTCTTTTTTT TTTTTTTGAGACAGATTTTCACTCTTGTTGCTCAGGCTAGAGTGCAATGG CATGATCTTGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp2 others(21): Show HG00140.hp2 HG00323.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01975.hp2 HG02300.hp1 HG02602.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp2 NA19060.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222	24	356	0.0674	-410	c.594 others(17): Show c.594+1041_594+1450del	OIP5	ENSG00000104147.9	transcript	ENST00000220514.8	protein_coding	4/4			chr15	TogoVar
PKP3_chr11_389209_409908	402106	CCCCCGAC others(403): Show CCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCG CTCACCCCGACCCCGCTCACCCCAGACCCCCGGCCCCGCTCACCCCCGGC TCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCC CGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGA CCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCC GCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCT CACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCC CGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCC GGCTCCACTGA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03209.hp1 HG03486.hp1 others(1): Show HG02717.hp2 HG03209.hp1 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0004t0001g0197 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0004t0001g0197 a0001c0004t0001g0201	4	216	0.0185	-410	c.173 others(17): Show c.1738-966_1738-557del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRPF6_chr20_63976132_64038100	64012164	TCTTTCTT others(403): Show TCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGT CTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGG ACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTAC GAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGA TACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAG TAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTT CTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCAC GGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGG AAGTCTCACGG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02486.hp2 HG02559.hp2 others(2): Show HG02015.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0252 others(2): Show a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0252 a0001c0001t0005g0065 a0001c0001t0005g0066	5	294	0.0170	-410	c.152 others(18): Show c.1524+951_1524+1360del	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB11FIP4_chr17_31386675_31543211	31505442	AATATATA others(403): Show AATATATAATAATTATTATAACATATAATAATAATTATAATATATAATAT ATAATTATTATATTATATATAATAATTATATATTATATATAATTATTATA TATTATATATAATAATAATTATAATATATAATAATATATAATAATAATTA TATATTATATAATAATAATTATATATAATATATAATTATATAATAATAAT TATATATAATATATAATAATTATATAATACATAATTATTATAATATATAA TAATTATATATAATATATTAATAATATTATTATTACTATTATTAAAGACA GAATCTTGAGCTCTGTCACCCAGGTGCAATCATAGCTCACTGTATCCTCG AACTCGTGGCCTCAAGCAATCCTTTGGCCTCAGCCTCCCGAGTAGCTGAG ATTACAGGCAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0160 a0001c0002t0004g0160	1	310	0.0032	-410	c.337 others(19): Show c.337-12208_337-11799del	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14			chr17	TogoVar
RASA3_chr13_113972783_114137623	114008317	ATGTTCCC others(403): Show ATGTTCCCCACACACCGCGTTCCTGACCGTGGGGAGGAGCAGAGCCCTGC GGTCTGGACGTTCCCCACGCACCGCGTTCCTGACTGTGGGGAGGAGCAGA GCCCTGCGGTCTGGACGTTCCCCACGCACCGCGTTCCTGACTGTGGGGAG GAGCAGAGCCCTGGGGCCTGGAGGTTGCCCCCACGCACCGCGTTCCTGAC TGTGGGGAGGAGCAGAGCCCTGGGGCCTGGATATTCCCCCCACGCACCGC GTTCCTGACTGTGGGGAGGAGCAGAGCCCTGCGGTCTGGACGTTCCCCAC GCACCGCGTTCCTGACTGTGGGGAGGAGCAGAGCCCTGCGGTCTGGACGT TCCCCACGCACCGCGTTCCTGACTGTGGGGAGGAGCAGAGCCCTGCGGTC TGGACGTTCCC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	67	0.0149	-410	c.166 others(17): Show c.1668+660_1669-712del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	17/23			chr13	TogoVar
SCNN1D_chr1_1275436_1297025	1288668	TGTCTCTG others(403): Show TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCG AGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	290	0.0035	-410	c.166 others(18): Show c.1662+648_1662+1057del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGTA_chr19_2749715_2788273	2773562	CGGCAGGG others(403): Show CGGCAGGGACACCGAGGGCAGAGGTGGGTGACACGGCCACACGGCAGGGA CTCCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACACCGAGGG CAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGG GTGACGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGGGTGACGCGG CCACACGGCGGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGC AGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACC GAGGGCAGAGGTGGGTGACACGGCCACACGGCAGGGACTCCGAGGGCAGA GATGGGTGACGCGGCCACACGGCAGGGACTCCGAGGGCAGAGATGGGTGA CGCGGCCACAG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01261.hp2 HG02080.hp1 others(27): Show HG00621.hp2 HG01261.hp2 HG02080.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04199.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18949.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp2 NA18964.hp1 NA18966.hp2 NA18973.hp2 NA18977.hp2 NA18981.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA19000.hp2 NA19004.hp2 NA19057.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp2 NA19086.hp1 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0003t0021 a0001c0004t0003 others(1): Show a0001c0003t0003 a0001c0003t0021 a0001c0004t0003 a0001c0004t0017	a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0031 others(27): Show a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0031 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0142 a0001c0003t0003g0144 a0001c0003t0003g0169 a0001c0003t0003g0188 a0001c0003t0021g0143 a0001c0004t0003g0039 a0001c0004t0003g0040 a0001c0004t0003g0129 a0001c0004t0003g0130 a0001c0004t0003g0135 a0001c0004t0003g0145 a0001c0004t0003g0146 a0001c0004t0003g0147 a0001c0004t0003g0149 a0001c0004t0003g0150 a0001c0004t0003g0151 a0001c0004t0003g0161 a0001c0004t0017g0148	30	396	0.0758	-410	c.-23 others(17): Show c.-23-4881_-23-4472del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SHC2_chr19_411589_466033	432290	CAGATAGA others(403): Show CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCA TCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATG GCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCA GATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAG GCCGGGCAGAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0001 a0011c0025t0001	a0011c0025t0001g0206 a0011c0025t0001g0206	1	212	0.0047	-410	c.111 others(19): Show c.1111-1953_1111-1544del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SIGIRR_chr11_400716_419999	402106	CCCCCGAC others(403): Show CCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCG CTCACCCCGACCCCGCTCACCCCAGACCCCCGGCCCCGCTCACCCCCGGC TCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCC CGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGA CCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCC GCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCT CACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCC CGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCC GGCTCCACTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03225.hp1 HG03471.hp1 others(5): Show HG02717.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0125 others(4): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0002g0034 a0001c0001t0004g0238 a0001c0004t0001g0001 a0001c0004t0001g0228	8	242	0.0331	-410	c.33 others(11): Show c.3380_*3789del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3609		chr11	TogoVar
SLC22A1_chr6_160116815_160163718	160125639	GGATGTGG others(403): Show GGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCT CTGGTGCTAAGATCATGAGGTCCACTCGGGGAGGATGTGGGCATTTTCCT GGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTTCTGCTAAGATCATGA GGTCCACTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAA CAAGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGGGGGAT GTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGG TGCTAAGATCACGAGGTCCACTCGGGGGGGATGTGGGCATTTTCCTGGCT TTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCACGAGGTC CACTCGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03041.hp1 HG01978.hp1 HG03041.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0207 a0005c0006t0001g0192 a0001c0001t0001g0207 a0005c0006t0001g0192	2	416	0.0048	-410	c.411 others(17): Show c.411+3374_411+3783del	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 10000 hits)