Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LUC7L_chr16_183990_234449	186034	AGGAATAC others(690): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG03209.hp1 others(4): Show HG00738.hp1 HG01109.hp1 HG03209.hp1 NA18963.hp2 NA18970.hp1 NA18978.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0220 others(4): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0220 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0004g0210	7	279	0.0251	-697	c.24 others(11): Show c.2467_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
LUC7L_chr16_183990_234449	186553	GACACGGG others(690): Show GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAATACCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	347	0.0029	-697	c.19 others(11): Show c.1948_*2644del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2436		chr16	TogoVar
MIER2_chr19_300573_349796	332814	ATTTTTTT others(690): Show ATTTTTTTTAATTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGG CTGGAGTGCAATGGCGTGATCTCGGCTCACCGCAACCTCCGCCTCCCAGG TTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGACG TGCACCACCACGCCTGGCTAATTTTGTATTCTTTTTTTTCTTTTTTGGAG ACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAG CTCACTGCAAGCTCCGTCTCCCGGGTTCACGTCATTCTCCCGCCTCAGCC TCCCGAGTAGCTGGGACTACAGTCACCCGCCACTATGCCCGGCTAATTTT GTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGA TCTAGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTG CTGGGATTACAAGCATGAGCCACCGCGCCCAACAATTTTTGTATTTTTAG TACAGACAGGGTTTCACTACGTTGGCCAGGCTAGGCTCAAACTCCTGACC TCATGATCCGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGA GCCACTGCATCCGGCCAATTTACATGTCAGTTTTAACTTTTCATGTAATA AAAAAGCAATAGATAAAGCACATTAACAAAGCTCCTTGAAACTCTAAT	A A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	381	0.0026	-697	c.243 others(16): Show c.243+889_243+1585del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	3/13			chr19	TogoVar
MIER2_chr19_300573_349796	332824	ATTTTTTT others(690): Show ATTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCA ATGGCGTGATCTCGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGGGAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGACGTGCACCACCA CGCCTGGCTAATTTTGTATTCTTTTTTTTCTTTTTTGGAGACGGAGTCTC GCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAA GCTCCGTCTCCCGGGTTCACGTCATTCTCCCGCCTCAGCCTCCCGAGTAG CTGGGACTACAGTCACCCGCCACTATGCCCGGCTAATTTTGTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGATCTAGAACTC CTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTAC AAGCATGAGCCACCGCGCCCAACAATTTTTGTATTTTTAGTACAGACAGG GTTTCACTACGTTGGCCAGGCTAGGCTCAAACTCCTGACCTCATGATCCG CCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCAT CCGGCCAATTTACATGTCAGTTTTAACTTTTCATGTAATAAAAAAGCAAT AGATAAAGCACATTAACAAAGCTCCTTGAAACTCTAATTTTTTTTAAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp2 HG01106.hp1 others(44): Show HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03490.hp2 HG04115.hp2 NA18522.hp2 NA18941.hp2 NA18951.hp2 NA18961.hp2 NA18969.hp1 NA18971.hp2 NA18975.hp2 NA18992.hp2 NA18995.hp2 NA19030.hp2 NA19081.hp2 NA19090.hp2 NA20752.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0014 a0001c0027 a0002c0015 a0009c0026	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0005t0002 a0001c0014t0002 a0001c0027t0001 a0002c0015t0003 a0009c0026t0002	a0001c0001t0001g0308 a0001c0002t0001g0238 a0001c0002t0002g0109 others(43): Show a0001c0001t0001g0308 a0001c0002t0001g0238 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0243 a0001c0002t0002g0246 a0001c0003t0002g0015 a0001c0003t0002g0151 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0163 a0001c0003t0002g0185 a0001c0005t0002g0244 a0001c0005t0002g0245 a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0027t0001g0160 a0002c0015t0003g0242 a0002c0015t0003g0247 a0009c0026t0002g0128	47	382	0.1230	-697	c.243 others(16): Show c.243+879_243+1575del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	3/13			chr19	TogoVar
MLPH_chr2_237482251_237560322	237544468	TGGGGACA others(690): Show TGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGG GACATTGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGG TGGTCAGTGGTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTG GGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAG TGGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAG TGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTG GTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGT GGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGGTGGAGGGGGCACT ATTGGTAGGGGGGACAATTATTGGGGGGGGGCACTAATTGTGAGGGGGGA CCAGTGTTGAGTGGGGGAATAGTTATGAGTGGGGACAGTGGTGAGTGG	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	221	0.0045	-697	c.153 others(19): Show c.1539+1828_1540-1423del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUCB2_chr11_17271739_17337211	17284872	CTTCCTCA others(690): Show CTTCCTCACTAGATTGAAGCCCTGTGAGGGTAAGGACTATGTCGATCTCG CTTACCTTTGTCTTCTAGCATAGTATCTGGTACCATAGTCATTACTTAAT ACATAAATATTAGTTTAGTTTTGTTTTTAGAAACAAAGTCTCAATACATA CATACATACATACATACATACTTATAATAGGTTAAAGGAAACATGCTTCA ATTCAGCCATTAATTGAAAAGGAAGAGGGGCAAAAGAAGAGGGTTGAGGA AGATGGAAAAAGATACATAAAAGAGGCTGGGCGCGGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGA TCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAACAT ACAAAAAAATTAGCCGGGCGTGGCTGGGTGAGGTGGCTCACGCCTATAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCG AGACCAGCCTGGACAACATGGTGAAACCCTGTCTTTACTAAAAAAAACAC AAAAAATTAGCCAGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTTAG GAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCGGAGGTTGCAGTG AGCTGAGATTGCACTACTGCACTCCAGCCTGTGCAACAGAGCGAGACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0100 a0003c0003t0001g0100	1	358	0.0028	-697	c.-1+ others(15): Show c.-1+1930_-1+2626del	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13			chr11	TogoVar
ZC3H3_chr8_143432659_143546447	143459377	CGTCTCTA others(690): Show CGTCTCTACTAAAACTACAAAAATTAGCTGGGCCTGGCAGCGCGTGCCTG AAATCCCAGCTACTCATGAGGCTGAGGCAGGAGAATTGCTCCAACCTGGG AGGCGGAGTTTACAGTGAGCTGAGATCGTACCAGTGCACTCCAGCCTGGG CAACAAGAGCAAAACTCTATTTCAAAAACAAACCAAAAAAAGGATTACAC ATCATAACCAATTACTCCCAGATGCAAGGATGGTTTCATACACAAAAATC AATTAATGAGATTGTGACTGACTGTGATTCAATGTGGTCAGAGTCATGAG CTGACCACCTTAATAGAATAAAGGAAAAAGACCACAAGATCATTTCAATT GATCTACAAAAAGGCCTGACAAAATTCAACACCATTTCATGTTTAAAAAA AACCAAAAACCTAATAAATAGGATAGAAGGCAACTTCCTCAGTGTGGTAA ACTCTATACATAAAAGCCCATAGCTTACGTCATATTCAATGGTGAAAAAT GAAAGCTTTTCTTCTAAGATGAGGAAAAAGACAAGGATGCCCACAGTTGC CATTTTAATTCAATATAGTATTAAAAGTTCTAGCCAGAGGCCGGGCGTGG TGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATC ATCTGAGGTCACGAGTTTGAGACCAGCCTGGCCCCATGGTGTGACCCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0006 a0006	a0006c0044 a0006c0044	a0006c0044t0001 a0006c0044t0001	a0006c0044t0001g0134 a0006c0044t0001g0134	1	337	0.0030	-697	c.230 others(19): Show c.2307+5643_2307+6339del	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	9/11			chr8	TogoVar
ZNF516_chr18_76352682_76500242	76393393	GGGGAAGG others(690): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAG CCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0128 a0002c0003t0128	a0002c0003t0128g0112 a0002c0003t0128g0112	1	331	0.0030	-697	c.181 others(21): Show c.1811-13787_1811-13091del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393536	GGGCAGGG others(690): Show GGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02922.hp2 HG02027.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0086 a0001c0028t0064 a0001c0001t0086 a0001c0028t0064	a0001c0001t0086g0102 a0001c0028t0064g0130 a0001c0001t0086g0102 a0001c0028t0064g0130	2	344	0.0058	-697	c.181 others(21): Show c.1811-13930_1811-13234del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADARB2_chr10_1172313_1742525	1237064	GCCTCCGG others(689): Show GCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGC CTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCT CCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCG GTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCAT CTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCT GCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0087 a0001c0001t0061g0087	1	90	0.0111	-696	c.136 others(19): Show c.1362-3915_1362-3220del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12775424	AGGTGAGA others(689): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG02080.hp1 others(1): Show HG00621.hp1 HG00642.hp1 HG02080.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 a0001c0001t0077	a0001c0001t0001g0046 a0001c0001t0012g0173 a0001c0001t0017g0198 others(1): Show a0001c0001t0001g0046 a0001c0001t0012g0173 a0001c0001t0017g0198 a0001c0001t0077g0184	4	214	0.0187	-696	c.565 others(17): Show c.565+5627_565+6322del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FZR1_chr19_3501311_3543334	3529690	GGATGGTT others(689): Show GGATGGTTGAGCGGATGGGAGAGCGGATGGGAGAGTGGATGGGAGAGTGG ATGGGTGAGCGCATGGGAGCGCATGGGTGAGCGGATGCGAGAGTGGATGA GAGTGGTTGAGGGAGTGGATGGTTGAGTGGATGGGTGAGCGGATGGGTGA GCGGGTGGGTGAGCGGGTGGGTGAGCGGGTGGGTGAGCGGGTGGGAGAGC GGATGGGAGAGTGGTTGAGGGAGCGGATGGGTGAGCGGATGGGAGAGCGC ATGGGTGAGCAGATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGG TTGAGTGGATGGGAGAGCAGATGGGTGAGTGGATGGGAGAGTGGATGGGT GAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGA GTGGATGAGAGTGGTTGAGGGAGCGGATGGGTGAGCGGATGGGAGAGCGC ATGGGTGAGCAGATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGG TTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGGGTGAGCGGATGGGA GAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGA GCGCAGGGGAGAGCGGAGGAGAGAGCGGAGGAGAGTGGTTGAGGGAGTGG ATGGTTGAGCAGAAGGGAGAGCGGATGGGAGAGCGGATGGGTGAGCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0077 a0001c0001t0045g0077	1	312	0.0032	-696	c.655 others(16): Show c.655-1096_655-401del	FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
FZR1_chr19_3501311_3543334	3529715	GATGGGAG others(689): Show GATGGGAGAGTGGATGGGAGAGTGGATGGGTGAGCGCATGGGAGCGCATG GGTGAGCGGATGCGAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTG AGTGGATGGGTGAGCGGATGGGTGAGCGGGTGGGTGAGCGGGTGGGTGAG CGGGTGGGTGAGCGGGTGGGAGAGCGGATGGGAGAGTGGTTGAGGGAGCG GATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAGATGCAAGAGTGGA TGAGAGTGGTTGAGGGAGTGGATGGTTGAGTGGATGGGAGAGCAGATGGG TGAGTGGATGGGAGAGTGGATGGGTGAGCGGATGGGAGAGCAGATGGGTG AGCGGATGGGAGAGCGGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGCG GATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAGATGCAAGAGTGGA TGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGGGAGAGCAGATGGG AGAGTGGATGGGTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAG AGCGGATGGGAGAGCGGATGGGAGAGCGCAGGGGAGAGCGGAGGAGAGAG CGGAGGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAGAAGGGAGAGCGGA TGGGAGAGCGGATGGGTGAGCAGATGGGTGAGCGGATGGGAGAGCGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00639.hp1 others(31): Show HG00099.hp2 HG00140.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG02055.hp2 HG02257.hp2 HG02300.hp1 HG02602.hp1 HG02615.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG03130.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp1 NA18967.hp1 NA19002.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 others(9): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0001t0025 a0001c0001t0026 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0046 a0001c0001t0047 a0001c0009t0006	a0001c0001t0006g0013 a0001c0001t0006g0015 a0001c0001t0006g0016 others(27): Show a0001c0001t0006g0013 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0042 a0001c0001t0006g0071 a0001c0001t0006g0074 a0001c0001t0006g0076 a0001c0001t0006g0080 a0001c0001t0007g0041 a0001c0001t0007g0051 a0001c0001t0007g0060 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0007g0089 a0001c0001t0019g0079 a0001c0001t0019g0097 a0001c0001t0025g0075 a0001c0001t0025g0078 a0001c0001t0026g0056 a0001c0001t0026g0088 a0001c0001t0034g0050 a0001c0001t0035g0062 a0001c0001t0036g0063 a0001c0001t0038g0239 a0001c0001t0046g0070 a0001c0001t0047g0072 a0001c0009t0006g0073	34	312	0.1090	-696	c.655 others(16): Show c.655-1067_655-372del	FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALNT9_chr12_132191372_132334589	132223361	ACNNNNNN others(689): Show ACNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	149	0.0067	-696	c.107 others(21): Show c.1078-20367_1078-19672del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
HECW1_chr7_43107647_43571001	43181067	TAAGATTC others(689): Show TAAGATTCCACATATGAGGGAGTTCATGTGGTATTTGTCTTTCTGTGCCT GGCTTATTTCACTTAACATAATGTCCTCCAGGTTCATCCATGTTGTGGCA AATGACACCATTTCATTCTTTTTTATGGCTGAATAGTATTTCATTGTGTA TATATACCATACTTTATCCATTCATGTCTTGATGGATACTTAGGTTGTTT CCATGGCTTGGCTGTTGTGAATACTGCTGCAATAAATAAGGGAGTGCTGA TCTCTTGGACGTATTGATTTCATTTCCTTTGGATAAATATTCAGCAGTGG GATTGCTGGATCATATAGTAGTTCTATTTTAAATTTTTTGAGGAACCTCA ACACTGTTTTCCATAATGGCTGTACAAATTTACACTTCCACCAACATTGC ATAAGGGTTTCTTTTTCTCCACACCCCACCAGCACTTGTTTTCTTTTATC TTTTTGATAATAGCCATTCTAACTGGAGTGAGACAGTATCTCATTTTGAT TTGCATTTCTCTGATGATTGGTGATGTTGAGTATTTTTTTACATACTTGT TGACTATTTGTATTCTTTTGAGAAATGTCTATTCAGATCTTTTGTTCATT TTAAAATTGAATTATTTGGGTTCTTTGCTATTGAGTTGTTTGAGTTCCTA ATATATTCTGGATATTAACTCTTTGTCAGATGTATAGTTTCCTAATA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0091 a0001c0014t0001g0091	1	180	0.0056	-696	c.-31 others(19): Show c.-31-62807_-31-62112del	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29			chr7	TogoVar
MIER2_chr19_300573_349796	332468	ATTTTTGT others(689): Show ATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGA TCTAGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTG CTGGGATTACAAGCATGAGCCACCGCGCCCAACAATTTTTGTATTTTTAG TACAGACAGGGTTTCACTACGTTGGCCAGGCTAGGCTCAAACTCCTGACC TCATGATCCGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGA GCCACTGCATCCGGCCAATTTACATGTCAGTTTTAACTTTTCATGTAATA AAAAAGCAATAGATAAAGCACATTAACAAAGCTCCTTGAAACTCTAATTT TTTTTAATTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGG AGTGCAATGGCGTGATCTCGGCTCACCGCAACCTCCGCCTCCCAGGTTCA AGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGACGTGCA CCACCACGCCTGGCTAATTTTGTATTCTTTTTTTTCTTTTTTGGAGACGG AGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCA CTGCAAGCTCCGTCTCCCGGGTTCACGTCATTCTCCCGCCTCAGCCTCCC GAGTAGCTGGGACTACAGTCACCCGCCACTATGCCCGGCTAATTTTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(165): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0006 a0008	a0001c0001 a0001c0007 a0001c0008 others(10): Show a0001c0001 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0004c0019 a0005c0025 a0006c0018 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0007t0001 a0001c0007t0006 a0001c0007t0009 a0001c0008t0001 a0001c0010t0001 a0001c0013t0001 a0001c0021t0014 a0001c0022t0002 a0001c0023t0001 a0001c0024t0001 a0004c0019t0001 a0005c0025t0001 a0006c0018t0001 a0008c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 others(141): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0277 a0001c0001t0001g0290 a0001c0001t0001g0298 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0002g0023 a0001c0001t0002g0169 a0001c0001t0004g0061 a0001c0001t0004g0073 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0005g0031 a0001c0001t0005g0305 a0001c0001t0005g0328 a0001c0001t0007g0092 a0001c0001t0008g0192 a0001c0001t0013g0313 a0001c0007t0001g0174 a0001c0007t0001g0175 a0001c0007t0006g0171 a0001c0007t0009g0170 a0001c0008t0001g0202 a0001c0010t0001g0017 a0001c0013t0001g0257 a0001c0013t0001g0258 a0001c0021t0014g0108 a0001c0022t0002g0326 a0001c0023t0001g0219 a0001c0024t0001g0194 a0004c0019t0001g0203 a0005c0025t0001g0184 a0006c0018t0001g0198 a0008c0016t0001g0195	168	382	0.4398	-696	c.243 others(17): Show c.243+1236_243+1931del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	3/13			chr19	TogoVar
MLLT10_chr10_21529232_21748630	21547663	TGAGTAGC others(689): Show TGAGTAGCTGGGACTACAGGCACATGCCACCTTGTCCGGCTAATTTTTGT ATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAAC TCCTGACCTCAGGTAATGTTCCTGCTTTGGCCTCCCAAAGTGCTGGTATT ACAGGCGTGAGCCACTGTGCGTCTTATTTTGAATCTTCTAAATAATCGTG TGTTTTAAAAAAATAGTTATTTATAATTAGGCTTAATATTACTCATGTTT TTGTTCAATCTAGCCTTTTATTTTCCTTGTTTGTGGGTTCATTTTTTTTA CTTTGAAGGTTTTGGTATTTTTTTCTCAGGGTCTGAGGCTAGTAAGTAAT AAGTAAGAAAGTTATATTAGTCTTTTTGTGTCTACGAATTTCATTATTTT GCTCTCTTGGAAGCTAGTTTGAATCCTTTGATAATAGCTATTTTCCTGTA ACTAAAGATTTTATTCTAGTTTGTCTTCTGGTGTCTGTTGGTTGATAAAC AATCTTTTGAGTTTGTTTATCCTGTTTGAGACTTGGTCTGCTTTTTCATT CTGAGGACTCAGTGTCCTTCCATTTTTTATTTTCTACTCTGTCTCTTCAA ATACTGTAACCTTCTCATTAACTTTTCTTTTCCTAGAACTGTTAGGTATA TGTTTGGGATTTTCATTCTGTTTTTCATGTCTTTTAATTTGTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0124 a0001c0006t0001g0124	1	190	0.0053	-696	c.240 others(17): Show c.240+8752_240+9447del	MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding	3/22			chr10	TogoVar
NKD2_chr5_1003802_1043943	1023488	TGTGGGCG others(689): Show TGTGGGCGTCTCAGCCCGTTGTCTCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCA TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCA CCCTCTGTGGGCGTCTCAGCCCATTGCCCCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCA GCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGT CCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCT TCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACTCT CTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGTG TCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCC GTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCC ACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG00738.hp2 others(1): Show HG00323.hp1 HG00735.hp2 HG00738.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0225 a0001c0001t0001g0250 a0001c0001t0001g0022 a0001c0001t0001g0225 a0001c0001t0001g0250	4	209	0.0191	-696	c.142 others(17): Show c.142-8663_142-7968del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
PCP4L1_chr1_161253745_161290450	161263813	AGCTCAAG others(689): Show AGCTCAAGCAGTTCACCCATCTCAGCCTCCCAAAGAGCTGGGATTACAGG CATGAGCTACCATGCTTGGCCTCAATACTTTCTTTCCTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAAGCTGGAGT GCAGTGGCGCCATTTTGGCTCACTGCAATCTCTGCCTCCTGGCTTCAAGT GATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCGTGTATCA CCAGGCCCGGGTAATTTTTGTATTTTTTTTAGTAGAGACGAGATTTCACT ATGTTGACCAGGCTGGTCTGAAACTCCTGGCCTCAAGTGATCCACCTGTC TTGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCC TCAAGTACTTTTTATAAGAAATATAGGCTGGGCACTGTGGCTCATGCCTG TAATCCCAGCATTTGGGAGGCCAAGGTAGGTGGATAACGAGGTCAGGAGT TCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAACTAC AAAAATTAGCCAGGTGTGGTGGCAGCCACCTGTAATCACAGCTACTCGGG AGGCTGAGCCAGGAGAATTGCTTGAACCTGGGAGGCAGAAGTTGCAGTGA GCCGAGATAGCACCACTGCACTCCAGCCTGTGACAGAGTAAGACTCT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	400	0.0025	-696	c.9+4 others(13): Show c.9+4832_9+5527del	PCP4L1	ENSG00000248485.2	transcript	ENST00000504449.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PI4KB_chr1_151286804_151332416	151302500	CCAGGCCC others(689): Show CCAGGCCCTCCATATTCCTCTACCAAGGCTGATTCAGAATGGGTGTGTCT CTAGAATTTGCATTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGAT AAGAATCTCGCTGTGTCTCCCAGGCTGGAGTGCAGTGGCGAGATCTCGGC TCACTGCAAGCTCCGCCTCCTGGGTCCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTT TTTTTGTATTTTTTTGGTAGAGATGGGGTTTCATCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTTATGATCTACCCGCCTCAGCCTCCCAAAGTGT TGGGATTACAGGCGTGAGCCACCGCACCCAGCCTAGAATCTGCATTTTCA ACAAGTCCTCCTTCCTCCCCCTGGATTCTGACACAGTCGCTTTGAGACCC CACCTTGAGACACACTGCTCAAACTCCTTCCTCTGGTGCTTTCTTGTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCTGGA GTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GTCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATCCGC CACCACGCCTGGCTAATTTTTTTGTATTTTTAATAGAGACGGAGTTT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0208 a0001c0002t0002g0208	1	328	0.0030	-696	c.152 others(17): Show c.1520+345_1521-203del	PI4KB	ENSG00000143393.17	transcript	ENST00000368873.6	protein_coding	6/11			chr1	TogoVar
PLCB1_chr20_8127266_8889900	8307695	TGGATCAC others(689): Show TGGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGTCCAACATGGTAA AACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATAGTGGCACGC GCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGAAC CTGGGAGGCAGATGTTGACAGTGAGCTAAGATAGTGTCACTGCACTCCAG CCTGGGCAACAGAGCAAGACTCCATCTCAAAACAAACAAACAAACAAACA AAACAAAAACACCTATACTTGACTTGTGGCTGTTTATTCCTTTTCTAGAG CTATTTGTTGTCTGCATTATAGAGAACTTTAAATATCAAAGTAGTTATTC CTGAACTTTTTACTTGAGTCAAATAAACAAAATGCATTGCTGCTTTGTGC TTTATGCAGAAGACCTTCTCCTGGTAAGGAGACAGTTTTTCATATTATAG CCAGCAATTAAAACCACATGAGATAGGAAGACCTTATTCTAATTCTTTCT GAGCAAAATACTTGCCCTTAATTTATTATTTAATAAACACATATATAGCA CTTACCATCTGCCAAATTATTTATATTCTTTTAAATATTAACCAATTTAA TCTTCATAGGGACTTTCTGAGTAAAGAACTATGAATGTTCAGCCGGGCGC AGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCAAGGTGAGC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA20752.hp2 HG01517.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0005 a0001c0002t0003 a0001c0003t0005	a0001c0002t0003g0075 a0001c0003t0005g0048 a0001c0002t0003g0075 a0001c0003t0005g0048	2	106	0.0189	-696	c.178 others(19): Show c.178-63668_178-62973del	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRKCA_chr17_66297613_66815743	66798503	GTGGTGAC others(689): Show GTGGTGACGGTGGTGACGGTGGTGGTGATGGTGGTGACGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	169	0.0059	-696	c.185 others(19): Show c.1855-5364_1855-4669del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PSMA4_chr15_78535444_78557417	78556721	GCCAGGAT others(689): Show GCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCAAACTAT CATTTTCTAGTTACTGTGATGTTTGTCAACTTTTACAAAATTTGTTCTGG CTTTGAGTGTTGTGGTCCAAAAAATAATGTAATTTGTTGAAAATTTTTTT GTTCTAAGTAAATATCCAATTTCACACGCAATTTCACATTTGTACTATCA TATTCTTTTTCTATTTGTAGAGATAGGGTTTTGCTATGTTGCCCAGGCTG AGTCTTGACTTTAACTCCTGGGCTTAAGCGATCCTCCCTCCTCAGCCTTC CCAGTAGCTGGGACTACAGGCCCGTGCCACCACACCTGGCTTGTATTGTC ATATTCTTTGCTTAAAGAGGACTCCTTCCCACCTGCCCAAATAATACAAT CTTCAATATAAACCGGAATTAGCCCCAGCTTTCCATTGTCCCCCTATCTT GTTGAGAATCTGTACCCCTGATTCCTCTCTGCCCCTCCCTCTCACAAACT TCTTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGAGACATGTTCTCT GTCACCACAGCTGTGGTACAATCATAGTTCACTGCAGCCTCAACCTCCTG GGTTCAAGTGATACTCCCATCTCAGCCTCCCAAGTAGCTAGGACTAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02015.hp2 NA18954.hp2 others(5): Show HG00558.hp1 HG02015.hp2 NA18954.hp2 NA18964.hp2 NA18979.hp2 NA18983.hp2 NA19012.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	8	428	0.0187	-696	c.77 others(11): Show c.7778_*8473del	PSMA4	ENSG00000041357.16	transcript	ENST00000044462.12	protein_coding		4305		chr15	TogoVar
SHC2_chr19_411589_466033	432290	CAGATAGA others(689): Show CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCA TCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATG GCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCA GATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAG GCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGA TAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGA GTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGA GATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATC GTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTT CATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGAT	C C	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	199	0.0050	-696	c.111 others(19): Show c.1110+1723_1111-1544del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SMYD3_chr1_245744347_246512279	245976117	CAGGGAAA others(689): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCA TCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCTA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	127	0.0079	-696	c.532 others(19): Show c.532-46876_532-46181del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
DGCR2_chr22_19031286_19127412	19112417	ATGGTTTC others(688): Show ATGGTTTCAAATCAAAACAGGTTTTTTTTTTGGTTTTGGTTTTTGAGGCA GGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGAGGCATGATCTCAGCTCA CCATAACCTCTGCTCACTGGGCTCAAACGATCCTCCCACCTCAGTCCCCT CCAAGTAGCTGGGACTACAGGCGTGTGCCATCATGCCCAGCTAATTTTTG TAGTTTTTGCAGAGATGCCATATTGCCCAGGCTGGTTTAGAACTTCTGGG CTCAAGCAATCCACCCACCTCAGCCTCCCAAAGTGCTGGAATTTCAGGTG TGAACCACCCGGCCCTGCCTCAACACAGTTTTGAACCTAACTGTGTAACA ATCACATGGAAGAGAGAAGAGAATTAATCCAAGTAGCTTTTGAACCCAAG AACCTTGAGTATACACCATCAATCTGAAAACACAAAGAGCTAAAAAAAAT TAAATTAAATTAAATTCTACTTAATAGGTCTGCTGTTACTAGTGGTGCGA ATGCAGTACTTCTGAAACTATTCTGGGTGCAGTGTAAGACTAAGCAAATG AGTAAACCTACTGATGCTGTTGGGAGCCAGGGTTCTCACTGTAGAAAAAG AGAGAAACAAACATGCAACAGAGAAAGCAAGCAAGAACCTGGAACGCTGG ATTAGAACTAAAGAAACAGTATGGGCCAGGCACAGTGGCTCACGGC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00558.hp2 others(60): Show HG00323.hp2 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01169.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG02074.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18957.hp1 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18982.hp1 NA18985.hp2 NA18995.hp1 NA19060.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0002t0006 a0002c0002t0017 others(7): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0017 a0002c0002t0018 a0002c0002t0025 a0002c0002t0041 a0002c0005t0020 a0002c0005t0043 a0002c0005t0044 a0002c0005t0045	a0002c0002t0002g0006 a0002c0002t0002g0133 a0002c0002t0002g0134 others(57): Show a0002c0002t0002g0006 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0152 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0160 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0180 a0002c0002t0002g0190 a0002c0002t0006g0001 a0002c0002t0006g0179 a0002c0002t0006g0183 a0002c0002t0006g0184 a0002c0002t0006g0185 a0002c0002t0006g0186 a0002c0002t0006g0187 a0002c0002t0006g0188 a0002c0002t0006g0189 a0002c0002t0017g0147 a0002c0002t0017g0161 a0002c0002t0017g0175 a0002c0002t0017g0182 a0002c0002t0018g0140 a0002c0002t0018g0151 a0002c0002t0018g0159 a0002c0002t0018g0181 a0002c0002t0025g0146 a0002c0002t0025g0153 a0002c0002t0041g0170 a0002c0005t0020g0137 a0002c0005t0020g0138 a0002c0005t0020g0191 a0002c0005t0043g0136 a0002c0005t0044g0135 a0002c0005t0045g0139	63	342	0.1842	-695	c.79+ others(15): Show c.79+9016_79+9710del	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	1/9			chr22	TogoVar
IQCA1_chr2_236319151_236512476	236446871	CTCGGACC others(688): Show CTCGGACCTGTCTTGCCACTTCCCCTGACTGCGGCTGCTGGGCGTGGGGT CTCTTGGGCCCTTGGCATCTCCCACCTCATGCTCCTGGGGACCCTCTCCT CCTTCTGTGCCTCATCCCAATCAGACACTCCCCCGTAGATCTGCAGGATG CTCAGGTCTCACTCATTTAACAAACACGCAGCTTCCTGAGCTCCCAGCCT CCTCCAGTGACTCTCTCATCTCTGTCTCCTTCCCAGCCTGGCTCTTCAAG AACTCTTCATGGGACCTGTCTCCATTAAAGTAGCTCTCACAAGGGATGAT GGGCTGTGCTGCATCCCCTGCCCCCTCATAGTCACATGCAGACGTCCAAG CTGCCAATACCTCAGGATGCGACCAGGTTGGAAACAGAATCACTGCAGAA GGAACTGGCAGAGACGCGGTCATGCTGGAGTAGGAGGGCCCCATCCAGTA GGGCTGGTGTCCTCGTGAGAAGAAGAAATGAAGGGAAGATGCTGTGAAGA GACGCTGGGAGCTGGCGAGGAGAGAGACCTGGACAGAAAGGTCCCTGGTG CCAGAAAGGTTGGGGGCCACTGTGTTACAGATTTCCTTATCTCCTCCATG ACAGCATCAGCCACATGATGGGACTTACGTTTTAAGAGGATCACTCCTAC AGAGGAGTGTAATTCCTAAGAAAGGCACCAGCATTCACTTGTAGGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03516.hp1 NA18522.hp2 others(2): Show HG02647.hp2 HG03516.hp1 NA18522.hp2 NA20129.hp1 NA20300.hp2	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0001 a0001c0019 a0005c0009 others(1): Show a0001c0001 a0001c0019 a0005c0009 a0012c0012	a0001c0001t0004 a0001c0019t0001 a0005c0009t0005 others(1): Show a0001c0001t0004 a0001c0019t0001 a0005c0009t0005 a0012c0012t0005	a0001c0001t0004g0174 a0001c0019t0001g0105 a0005c0009t0005g0065 others(2): Show a0001c0001t0004g0174 a0001c0019t0001g0105 a0005c0009t0005g0065 a0005c0009t0005g0135 a0012c0012t0005g0192	5	206	0.0243	-695	c.927 others(17): Show c.927-6442_927-5748del	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	6/18			chr2	TogoVar
PKHD1_chr6_51610299_52092613	51871311	ATTACATC others(688): Show ATTACATCTATCTAATGGAATACTATTCGTCGATAATAAGGAATGTAATA TTGATATGTGCAACAAGTTAGATGAATCCCAATGGCATTCAGGAGTGAAG GAAGCCAGTCCCAAAAGGTTACATACTATATGACTCCATTTATATGACTG TTGAAAAGGCAAAACTATAGTGACAGAGAATATATTAGTGATTGCCAGTG GTTTAAAGCAAGAGGAGGCTGTGGCTACAAAGATGGAGCAAGGAACTGGG GTGGATGCAACTGTTCTGTGTCTTGATTGTCGTGGTGGTTGTTACACAAA TGTGTACATGTGTTAAAGCTCATAGAACTGTACATCAAAAAGTCAGTTTT GCTGTATATTAATATATTTTAAAAACTTTAACAAAAAGTCTGAAAAGAAA GAAACAATAAGTGTTTTCATGATTTTCCACAAAATCTCTTTGACAAACAC TATCCAATCAAGCTGCTAGTGCCTCACTGTTCCATTGTTAAAAATAGTCT TACATTTGAGGATTACCAGAATTTTTGCAATCACTCCCAACATGAAAAAT GATGAAACAATAAACAAATAGCAGAAAAGAAACTCAGTGGACACAAAGCT AGTCTAGAAATCAGAAGAAAACAAAAACTATAATTAATGGCCTTGGAGAA ATAAGTATATTATATCCATGAAACAAATAGAAGCCTAAAATATTAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp2 HG01074.hp1 others(25): Show HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01255.hp2 HG01261.hp1 HG02015.hp2 HG02055.hp1 HG02155.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02818.hp1 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03239.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp2 HG04204.hp2 HG04228.hp1 NA18971.hp2 NA19005.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0015 a0016 a0025 a0028 a0036 a0038	a0001c0009 a0001c0019 a0001c0022 others(19): Show a0001c0009 a0001c0019 a0001c0022 a0002c0021 a0002c0031 a0002c0077 a0002c0091 a0003c0013 a0003c0016 a0004c0006 a0004c0043 a0005c0037 a0006c0076 a0006c0078 a0007c0053 a0009c0054 a0015c0067 a0016c0090 a0025c0050 a0028c0055 a0036c0051 a0038c0042	a0001c0009t0001 a0001c0019t0001 a0001c0022t0001 others(20): Show a0001c0009t0001 a0001c0019t0001 a0001c0022t0001 a0002c0021t0004 a0002c0031t0003 a0002c0077t0002 a0002c0091t0007 a0003c0013t0001 a0003c0016t0001 a0004c0006t0002 a0004c0006t0003 a0004c0043t0016 a0005c0037t0001 a0006c0076t0005 a0006c0078t0005 a0007c0053t0017 a0009c0054t0001 a0015c0067t0003 a0016c0090t0001 a0025c0050t0001 a0028c0055t0002 a0036c0051t0004 a0038c0042t0002	a0001c0009t0001g0103 a0001c0009t0001g0106 a0001c0009t0001g0123 others(25): Show a0001c0009t0001g0103 a0001c0009t0001g0106 a0001c0009t0001g0123 a0001c0019t0001g0097 a0001c0022t0001g0132 a0002c0021t0004g0128 a0002c0021t0004g0130 a0002c0031t0003g0014 a0002c0077t0002g0102 a0002c0091t0007g0133 a0003c0013t0001g0051 a0003c0016t0001g0027 a0003c0016t0001g0028 a0004c0006t0002g0046 a0004c0006t0002g0054 a0004c0006t0003g0039 a0004c0043t0016g0056 a0005c0037t0001g0038 a0006c0076t0005g0088 a0006c0078t0005g0104 a0007c0053t0017g0069 a0009c0054t0001g0082 a0015c0067t0003g0112 a0016c0090t0001g0120 a0025c0050t0001g0023 a0028c0055t0002g0072 a0036c0051t0004g0055 a0038c0042t0002g0050	28	132	0.2121	-695	c.735 others(18): Show c.7351-1367_7351-673del	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	46/66			chr6	TogoVar
SCGB1A1_chr11_62414033_62428195	62415183	TCTGCCTC others(688): Show TCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCAAGCACCACCACAA GCCCAGCCAATTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGTTGTT CAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTGGGGGCA GCCCCCTTTCAACTCCCGGAGCACCATTTCCTTCTCTGACTTCCTCCATC TCCCCACAGAGCATTCCCATCAGTTGCACCCATCTCTGTCTCTCCTCCTA GCTGTTAAGTTCCTCAAAGACCCAGGAGCCAGCTATCCTGTCCCCAGGAC CTCGCACCATGAAGGTGGAAAGTAGAGAGCAGAGTCTGAGGCTATGGGTG ATGTGACTCCTGCCTAAGACCCCTGCAGCCATCACAGCTGCCCCGGCCAG ACCAGCCACTGCCCACAGAGGGATCCACTAGTGGCGGCACTGGATGGGCT TTAGGTGCCCCCAGTGGTCCAGCTCATCTTCCTTGCCCATTTCAGCTCCA TTGGCCACAGCTTTCTTTTGTTTGTTTGTTTGTTTATTTATTTATTTATT TTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGGAGTGCAATGGTGTG ATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01496.hp2 HG02109.hp2 others(14): Show HG01109.hp1 HG01496.hp2 HG02109.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02922.hp2 HG03041.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0063 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0002g0011 a0001c0001t0002g0025 a0001c0001t0002g0048	17	446	0.0381	-695	c.-39 others(11): Show c.-3912_-3218del	SCGB1A1	ENSG00000149021.7	transcript	ENST00000278282.3	protein_coding		3849		chr11	TogoVar
VCX3B_chrX_8459830_8471510	8466559	GGGAAGAG others(688): Show GGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCG GTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGTGTGGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	261	0.0038	-695	c.17 others(9): Show c.177_*871del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		50		chrX	TogoVar
ZNF570_chr19_37464356_37493652	37478507	TTTCTTCA others(688): Show TTTCTTCATTTTCAATTCTTATACCTTAATTTATTTTTCTGTTGCCTTTG TCGTATCTCCAGTATAATATGAATCGAAGTAGTGATAACAGGCATTCTTG TCCACTTCCGGTCTTAATAAGAATACTTTAGCATTTTGTTTTTTAATAAT TTTGATGCTTAAAAGTTTTGGTACATACCCTTTCATTCCTGTTTGCTAGA GTTTCATTGTGGAAAGCTTTTGAGTTTTAACAAATGTTTTTCTCCATCTG TGGGTGATTTTTACCTCTTAATAGGTTTTAGTTTTTCACATCTTAATGTG GTAAATTACATACATTTTCAAATGTTGAACCAACATTGCATTCCCAAGTT AAACCCATCTTTATATCTTTTCCACTTTTTGCTAGTTGCTGTTTGCCAAT ATTTTGTTTGGGTGTTTTGCATCTGTATTTATTAGTGAATTTGATCTTCA GTTTTCCTTTCTTGTCAGATTTCGGAATCAAGGTTGATTAGTCTCGTAAA TTCTCTTTTTCTTCTTTAGAAACATTTGTGTAAAATAAAAATTATTTGTT TTTTGAATGTTTGGTAGAACTTTGTTCATTTTGGCTTGGAATTTTTATTG TTAAAAGAATTTAAACTAATCATTCAATTTGATATGTTCTAAAATTCTAG GTTTTCTATTTCTCCTAGAGGCAATTAGGGTATTTTTTTCTAAATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02486.hp1 HG01261.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0221 a0001c0001t0019g0223 a0001c0001t0019g0221 a0001c0001t0019g0223	2	378	0.0053	-695	c.256 others(17): Show c.256+2076_256+2770del	ZNF570	ENSG00000171827.11	transcript	ENST00000330173.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2105976	TGGGGCGT others(687): Show TGGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCT CAGCTGGGGCGTCCTGAAGCCACTGGGCGCCCACCCTGGAGAAGGTTTCC ACCTCAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCTGGAGAGGGTT TCCACCTGAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCTGGAGAGA GTTTCCACCTCAGCTGGGCGTCCTGAAGCCACTGGGTGCCCACCCCGGAG AGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCCG GGGAGGATTTCTACCTCATCTGGGGCGTCCTGAAGCCACTGGGCACCCAC CCCGGGGAGGGTTTCCACCTCAGCTGGGCATCGTGAAGCCACTGGGCGCC CACCCCGGGGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCACTGGGC GCCCACCCTGGGGAGGGTTTCCACCTCAGCTGGGGTGTCCTGAAGCCACT GGGAGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGTGTCCTGAAGCC ACTGGGCGCCCACCCTGGAGAGGGTTTCCACCTCAGCTGGGCATCCTGAA GCCACTGGGTGCTCACCCTGGAGAGGGTTTCCACCTCAGCTGGGCATCCT GAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCAGCTG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	75	0.0133	-694	c.50- others(15): Show c.50-9244_50-8551del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLGAP2_chr8_732628_1713476	992633	ACCCCCTG others(687): Show ACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGC CCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCC TTGCCTGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCC CACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCT CTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTC TTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCT GTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCG GAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATA CTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCC CATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCGGACCCCCTGCA CCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCC TGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGAC CCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0010 a0002c0004t0018g0010	1	40	0.0250	-694	c.73+ others(17): Show c.73+84668_73+85361del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
GJC2_chr1_228144930_228164826	228160948	ACCATCAC others(687): Show ACCATCACAGGCCAAGCACTGTCTCACGTCTGTCATCCCAGCACTTTGGG AGGCTGAGATGGGAGCATCACTTGAGCCCAGGAGTTCAAGATGAGCCTGA GCAACACAGACCCCATGTCTACAAAAAATTTAAAAAGTAGCTGGGCATGG TGGCATGCACCTGTGGTCCCAGTACTCAGGAGGCTGGGGTGGGAGGATCA CTTGAGCTAGGGAAGTCGAGGTTGCAGTGAGCTGTGATGGCACCACTGCA CTCCAGCCTGGGAAACAGAGCAACACCCTGTCTCAAAATAAATAAAATTA GCCATCACAGGCAGACTGGAGGCAGAACTGCTGCTTCTTTGGGAAACTTT AGTCTTTGGCTATATATCTAGATATAGATATAAAAATAGTATATAGTATC TGTGTCTATATTTCCTATGGTTTTGTTTCTCTGGAGAACCCTGGCTAGTA CACATCCCCCAGCCAGAGCTGTTCAAAGGGCACCCCAGCTTCGAGGGAAG CTGGAAATGATCTCAAACTTGGAGGGTGTGCCCGTTGGGACTGCCATAGC ACCGCATCATCCACTGGGTGCCTTAAACAACAGACACTGATTATCTCACA GTCCTAGAAGGGAAGGCCAAGATTAAGGTGTGGGCGAGGCTGGTTCCTCC TGCAGCCTCCCTCCTTGGCCCGTGGATGCCATCTCCCCCGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	-694	c.18 others(11): Show c.1871_*2564del	GJC2	ENSG00000198835.4	transcript	ENST00000366714.3	protein_coding		1123		chr1	TogoVar
TAF13_chr1_109059140_109081003	109059974	GTGTTGGC others(687): Show GTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATTCGCC TTGGCCTCCCAAAGTTTTGGGAATATAGGCATGAGCCATCGCACCCAGCC AGATTTGCTTTAAAATAATACTGCCCCCCTACCTTAAAAAAGGTAAGGGT TCTAAAACCAAGGTCCAAAATTAAAAATAAGAAAATTATTTAAAGGTAGG GGGATAGGACAAATTGGCAAAAAGTTGGTTACTTGTTGAAGCTGGGGGCT AGTTACACTATTATTGTGTATACTTGAGATTTTCCATAGGAAGTTTAAAA AAAAGTGAATTAATTTAGGAGAGAGCACCTATATATACTCCAGATCAGCA CTGTCCAAAAGAATTTTCTGTGATGATGGCAGTGTTCCATATCAGCACTG TCCAATGCTGTACCCACTTACCATAAGGGTTTTGAGCACTTGAAATATAG CAAACGCAACTAAGGAAGTGAATTTTTCATTTTATTATCATTTTTTAAAT ATTTTATTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGTCTGGAGTGCA GTGGTACGATCTCGGATCACTGCAGCCTCTGCCTCCTGGGTTCAAGCAAT TCTCCTGCCTCAGCCACCCGAGTAGCTGGGATTACAGGCACGTACCACCA CACCCGGCTAATTTTTGTATTTTTGGTAGAGATGGTGTTTCATCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01167.hp2 HG02155.hp2 others(10): Show HG00099.hp1 HG01167.hp2 HG02155.hp2 HG02257.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp2 HG03017.hp1 HG03195.hp2 HG03516.hp1 HG03540.hp1 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014	a0001c0001t0004g0088 a0001c0001t0004g0128 a0001c0001t0004g0130 others(8): Show a0001c0001t0004g0088 a0001c0001t0004g0128 a0001c0001t0004g0130 a0001c0001t0007g0129 a0001c0001t0007g0132 a0001c0001t0008g0023 a0001c0001t0008g0139 a0001c0001t0012g0140 a0001c0001t0012g0147 a0001c0001t0013g0058 a0001c0001t0014g0131	13	412	0.0316	-694	c.38 others(11): Show c.3855_*4548del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding		4165		chr1	TogoVar
ZDHHC11B_chr5_705355_789729	711119	CCCATTTC others(687): Show CCCATTTCCCAGTACTATGGGCTCCCCTTTCCCAGTACTGTGCTCCGCTT TCCCAGTACTATGCTCCCATTTCCCAGTGCTGTGCCCTCCCCTTTCCCAG TACTGTGCTCCCATTTCCCAATACTGTGCTCCCATTTCCTAGTGCTGTGA ACTCCCATTTCCCAGTACTGTGCTCCCAATTCCCAGTACTGTGGGCTCCC CTTTCCCAGTACTGTGCTCCCATTTCCCAGTACTATGTTCCCATTTCCCA GTGCTGTGAGCTCCCATTTCCTAGTACTGTGCTCCCATTTCCCAGTGCTG TGCTCCCAATTCCCAGTACTGTGCTCCCATTTCCCAGTGCTGTATACTCC TATTTCCCAGTGCCATGTGCTTCCATTTCCCAGTACTGTGCTCATATTTC CCAGTACTGTGCTCCCATTTCCCAAAACTGTGCTCTCATTTCCTAGCACT GTGCTCCCATTTCCCAGTACTGTGCTCCCATTTCCCAGTGCCGTGCTCCC ATTTCCCAGTGCTGTATACTCCTATCTCCCAGTGCTGTTTGCTCCCATTT CCCAGTACTGTGCTCCTATTCCCCAGTACTCTGTGCTCCCATTTCCCAGT ACTTTGTGCTCCCATTTCCCAGCACTGTGCTCCCATTTCCCATTACTGTG CTCCCATTTCCCAGCACTGTGATCCCATTTCCTAGTACTGTGCTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0229 a0001c0002t0051g0229	1	270	0.0037	-694	c.47 others(10): Show c.477_*1170del	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	14/14	4995		chr5	TogoVar
CFAP46_chr10_132803392_132947570	132914028	CCCCGAGG others(686): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCC GAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACA CTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0207 a0002c0002t0001g0207	1	171	0.0058	-693	c.212 others(18): Show c.2121-1463_2121-771del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CUX2_chr12_111029165_111355554	111073160	TCCTTCGT others(686): Show TCCTTCGTATCCCTTCCAGTCACTACCAACCACCCACCCCCCAGGGTGAA CCCTGTGCCCACTTCTTACAGCACAGATTAGTCTTGTTTGGAATCAACCA GCCTGTGCTCTTCTGTGTCTGGTTTCTTTTACCAACATTATGTTCTCAAG ATTCACCTGTGTTGTGCGGCATTACAGTTTGTTGTCATTGCTGTGTAGCA TTCTCTTTTGTGACTACACCACAATTTTTCATCCATTCCCCTGTTAAGGT ACATTTGAGTGGCTTCAGTTGGGGGCTCCTACAAACAGTGCTGTTAGGAA CATTTGTTCATTACTGTCTTTTAGTGCACAGGGGCACACAGTTTTCTTGG GTATAAATAAGGGTTTCTCAGTCTTGACACCATTGATGTTTGGGGCCAGA GAATTCTTTGTTGTGGGTGCTGCTCTGTGCGTTGTAGGATGCTTAGCAGC ATCTCTGGCCTCTATCTACTCAGTGCGATAGCATCTCCCAAATTGTAACA ATGAAAAATGTCTCCGGGGGCTGGTCATGGTGGCTTATGCCTATAATCCC AATGCTTTGGGACGCCAAAGCAGGAGGATCACTTGGAGCCAGGAATTTGA AACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTATGAGAAAATTTAAA AATTAGCTGGGTATGGTGGCAAGCGCCTGTAGTTCTAGCTACTC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA19030.hp2 HG02897.hp2 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0021 a0001c0009 a0001c0021	a0001c0009t0001 a0001c0021t0005 a0001c0009t0001 a0001c0021t0005	a0001c0009t0001g0035 a0001c0021t0005g0034 a0001c0009t0001g0035 a0001c0021t0005g0034	2	98	0.0204	-693	c.63+ others(17): Show c.63+38922_63+39614del	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
FLI1_chr11_128689072_128818267	128812821	AGGACTTT others(686): Show AGGACTTTATGGCTCATGCAGATTTTTAAGGTCATTTTTCTTCCCAAGGA AGAAACTTGCCTCCAGTTCCTTCACTGTTAGGTAGCTTATTTTCATTTTC TCTATTTTACAATGAAAAGAGTGAGACCTGGGAAGTCCTTGATTTGCAAG GAATTAGACTCACAGCATTGGTAACCCTAGAACCTTCTTAGGGTAACACT AAGTACCTTCTAGACAACATGTCTACCTAAATGAAATGGGATGTGTTTCG GAACATTTGTCTCCAGTTTTTTTTTAATCTTGCACCCTGCCATTTAAAAA GATGTGTAAAGCACATATTCTCAACATATGCACATTGATTTATAAATCAT ATATACAAACTGTTACATTATTCTTCATATTAGAAAACAAATACAAAATA GAACATTTTAAATGGTGATATAAAAATAAATTGAAACTGAAATTCTACTC TTTTCCTCCTATTTTCTCTATATTGAATATCCTCTGCTATTAACTCTCAA AACAAAGATGTTGGTCTTTAGTGAAAAAAGTGTATGCATGTACTGGATTT CTAGTGACTTCCAAGAAAGGAGAAAATTAAAACTTGGTATTAGTGGCCCA AGCATAGAAAGAGGAATGATGAAGGCCAGGTATGTTTAAGAACAAACTAG CTGAATTCTTTGGCAGATCTCCATCTTAGCCACGCAATTTCCCC	A A	splice_region_variant splice_region_variant	LOW	HG00099.hp1 HG00140.hp2 HG00438.hp2 others(74): Show HG00099.hp1 HG00140.hp2 HG00438.hp2 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01243.hp1 HG01256.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG01978.hp2 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03239.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18939.hp2 NA18940.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19077.hp1 NA19078.hp2 NA19085.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0002t0005 a0001c0010t0002	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0011 others(72): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0002g0146 a0001c0001t0002g0150 a0001c0001t0002g0162 a0001c0001t0002g0195 a0001c0001t0002g0205 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0241 a0001c0001t0002g0247 a0001c0001t0002g0253 a0001c0001t0002g0271 a0001c0001t0002g0288 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0300 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0123 a0001c0001t0004g0136 a0001c0001t0004g0156 a0001c0001t0004g0174 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0239 a0001c0001t0004g0248 a0001c0001t0004g0264 a0001c0001t0004g0296 a0001c0001t0004g0308 a0001c0001t0005g0028 a0001c0001t0005g0044 a0001c0001t0005g0211 a0001c0001t0005g0213 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0283 a0001c0002t0002g0030 a0001c0002t0002g0034 a0001c0002t0002g0091 a0001c0002t0002g0144 a0001c0002t0005g0095 a0001c0010t0002g0311	77	326	0.2362	-693	c.18 others(11): Show c.1834_*2526del	FLI1	ENSG00000151702.18	transcript	ENST00000527786.7	protein_coding	9/9			chr11	TogoVar
FOXQ1_chr6_1307098_1319758	1319065	CATGGTGG others(686): Show CATGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGT GGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAA CCCCGTCACTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCACGCC TGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAG GAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAA AATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTT TGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGC CTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCG GGCAGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCG GGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAG AAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCAC GCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGT TAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACT AAAAATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	362	0.0028	-693	c.51 others(11): Show c.5150_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4308		chr6	TogoVar
LUC7L_chr16_183990_234449	186475	GGGGAACA others(686): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	336	0.0030	-693	c.20 others(11): Show c.2030_*2722del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2514		chr16	TogoVar
LUC7L_chr16_183990_234449	186492	GGGGAACA others(686): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	334	0.0030	-693	c.20 others(11): Show c.2013_*2705del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2497		chr16	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000404	AATCAGCC others(686): Show AATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGA ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTAT CAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAG TGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAATC AGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAGT GCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAATCA GCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTG CAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGTATCAG CCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGC AGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp2 HG02896.hp2 others(7): Show HG01243.hp1 HG02818.hp2 HG02896.hp2 HG03098.hp1 HG03139.hp2 NA18522.hp1 NA18973.hp2 NA19005.hp1 NA19043.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0029 a0001c0002t0083 others(3): Show a0001c0001t0003 a0001c0001t0029 a0001c0002t0083 a0001c0002t0119 a0001c0004t0005 a0001c0004t0015	a0001c0001t0003g0091 a0001c0001t0003g0097 a0001c0001t0003g0197 others(7): Show a0001c0001t0003g0091 a0001c0001t0003g0097 a0001c0001t0003g0197 a0001c0001t0029g0082 a0001c0002t0083g0079 a0001c0002t0119g0206 a0001c0004t0005g0139 a0001c0004t0015g0005 a0001c0004t0015g0013 a0001c0004t0015g0163	10	216	0.0463	-693	c.120 others(19): Show c.1200+2108_1200+2800del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000503	AATCAGCC others(686): Show AATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGA ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAAT CAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAG TGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAATC AGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGT GCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGTATCA GCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTG CAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAG CCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAGTGC AGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03516.hp2 HG03130.hp2 HG03516.hp2	a0001 a0001	a0001c0007 a0001c0019 a0001c0007 a0001c0019	a0001c0007t0086 a0001c0019t0068 a0001c0007t0086 a0001c0019t0068	a0001c0007t0086g0012 a0001c0019t0068g0050 a0001c0007t0086g0012 a0001c0019t0068g0050	2	193	0.0104	-693	c.120 others(19): Show c.1200+2163_1200+2855del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000800	AATCAGCC others(686): Show AATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGA ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTAT CAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAG TGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATC AGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGT GCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCA GCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTG CAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGAATCAG CCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGC AGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02809.hp2 others(3): Show HG02280.hp1 HG02451.hp1 HG02809.hp2 HG03209.hp1 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0010	a0001c0001t0038 a0001c0004t0016 a0001c0004t0041 others(3): Show a0001c0001t0038 a0001c0004t0016 a0001c0004t0041 a0001c0004t0042 a0001c0005t0140 a0001c0010t0016	a0001c0001t0038g0190 a0001c0004t0016g0011 a0001c0004t0041g0201 others(3): Show a0001c0001t0038g0190 a0001c0004t0016g0011 a0001c0004t0041g0201 a0001c0004t0042g0085 a0001c0005t0140g0042 a0001c0010t0016g0089	6	192	0.0313	-693	c.120 others(19): Show c.1200+2460_1200+3152del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
ZNF761_chr19_53426984_53463261	53450141	AAAAATAG others(686): Show AAAAATAGAAAAATTAGCCGGGTGTGGTGGCATGGGCCTGTAATCCCAGC TACTTGGGAGGCTGAAGCAGGAGGATCACATGAACCTGGGAATCGGAGGT TGCAGTGAGCCAAGATCACCACTGCACATCTGCCTGGTGACAGAGTGAGA CTCCATCTCAAAAAAATAAATAAAATAAAATGAAATATTTGCATATGTGT GTCCTTAAGGCTAATATGAGTCTATGAGTTTCTTGTAGACAACATGTAGT TGGTTCCTATTGATTCAGCCAGTCTTTGGTTTCTGAATGCAGAGTTACTT ACAGTGGAAGTATTACTGATGGAGAAGACCTTACCCTTGTGATTTTGTTA CATATTATCTGTGTTTCTTGTAGGTTTTTTTTGTTCTTCATTTCTCATTT ACTACTTTTTGTGTTTAATTGCTTTTTTGTGTAGACATGCTTTGACTCCC TTCTTTTATTTACTTCTTTTGTTTGTTTGTTTATGATGGAGTCTCACTCT GTCGCCAAGGCTACAGTTCAGTGGTACGATCTTGGCTCACCGCAGCCAGC TCCGCCTCTCGGGTTCAAATGTTTCTTGTGCCCCAGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCTGAGGCAGGCAAATCACCTGAGGTCAGGA GTTCAAAACCAGCCTGCCTAACATGGCGAAACTCCATCTCTACT	A A	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0012 a0003c0004t0012	a0003c0004t0012g0211 a0003c0004t0012g0211	1	458	0.0022	-693	c.142 others(16): Show c.142+510_142+1202del	ZNF761	ENSG00000160336.17	transcript	ENST00000684525.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
BORA_chr13_72722923_72761196	72725474	TCACATGA others(685): Show TCACATGACTTAAAGGGAGGTTCACAAATGCTACCATTGAGGGGAGAAAT GGTATTCAAAAAGTTTTGAAAATTTTATTTTTGATCTCACGGGTTGATTT AAATACTGTGTAACACCACATCCCCTCTCCTTCATTTTTTGTTTTACTTC ACTTTTTTGTGTTCTTACTCTCTTTATAATCTTCATTTCACACCAAGTTT TCTCAGAAGAGATCTTGATGATGCAGCCAACACAAACCATCAGTTCTCAA TTGTACATCAGTGATTCCACCAGAGAAAATGTGAGTTTTCTGTTCAAATG GGATCCTGTGGCCATATACATAAGGAACCTAAGTACAGCTAACCTAAGAA AATAGGCTAGAAGTGAGGTCTTATACTCTACCTTTTTCCAAGGAAATATA CAAGACAGTAAATTTATATTTATATACACACACATATATATATTCATACA TAAATCCACTTACAAAATAAAACTATTAAGTGTTGATACATCGAAAAGGA TAGAAAAATAAGCTGAATATTAAGAGTAACATTCTCAGAAAAACAGCAAG GTAGATACTGAACAAGTGAAAAATTAGATGCAAAGGCTCTAAAAGTGTAA TTCTTTGAAAAGAAAACCAGGACCAGTGCAGAAAAAGCCAGCAGCCCCTC TGCAAGTGCTACATAAGAAAATGAGGCCGGGCATGGTGGCTCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02071.hp1 HG02083.hp2 others(8): Show HG02027.hp1 HG02071.hp1 HG02083.hp2 HG02132.hp2 NA18946.hp2 NA18984.hp2 NA18990.hp1 NA19000.hp1 NA19012.hp2 NA19060.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0052 a0001c0001t0002g0002 a0001c0001t0002g0052	11	386	0.0285	-692	c.-25 others(11): Show c.-2548_-1857del	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		2448		chr13	TogoVar
CABYR_chr18_24134062_24166600	24155644	TTCTTCTC others(685): Show TTCTTCTCTAAAAATCTTTTTAGATGTTAATTAACCCATCTGGTTGTTGT TTTTCAGTAGAGAAATGGTCAGAAGGAACGACACCACAGAAGAAATTAGA ATGTTTAAAAGAACCAGGAAAAACATCTGTAGAATCTAAAGTACCTACCC AGATGGAAAAATCTACAGACACAGACGAGGACAATGTAACCAGAACAGAA TATAGTGACAAAACCACCCAGTTTCCATCAGTTTATGCTGTGCCAGGCAC TGAGCAAACGGAAGCAGTTGGTGGTCTTTCTTCCAAACCAGCCACCCCTA AGACTACTACCCCACCCTCATCACCACCTCCAACAGCTGTCTCACCAGAG TTTGCCTACGTCCCAGCTGACCCAGCTCAGCTTGCTGCTCAGATGTTAGG TAAAGTTTCATCTATTCATTCTGATCAATCTGATGTGTTAATGGTGGATG TGGCAACCAGTATGCCTGTTGTTATCAAGGAGGTGCCAAGCTCAGAGGCT GCTGAAGATGTCATGGTGGCTGCTCCTCTTGTGTGTTCTGGAAAGGTGCT AGAAGTGCAGGTTGTGAACCAAACATCTGTCCATGTAGATTTGGGTTCTC AACCTAAAGAAAATGAGGCTGAACCATCAACGGCTTCCTCAGTCCCCTTG CAGGATGAACAAGAACCTCCTGCTTATGATCAAGCTCCTGAGG	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01934.hp1 HG01934.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0119 a0005c0005t0001g0119	1	406	0.0025	-692	c.200 others(14): Show c.200-54_541+296del	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
FBXO17_chr19_38936401_38980742	38980050	AGCCTGAA others(685): Show AGCCTGAAGGCCAAGCTGCAAGTCTCAGATAAATCCACGGACCAGATTGA GAACTTGTCTTCCTGTTTGGTGCACTTTCCTCTGATTCCTCCCCACCCTT CATCTATTTTACATGTACCTACCCTTCCCTAATTTTTTTTTCTTTTCTTT CTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTCCAGTGG CATGATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCTACCACGCC TGGCTCATTTTTGAATTTTTAATAGAGACAGGGTTTTACCATGTTGGCCA GCCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCCTGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCCGTAATTGGT TTTTTACACTGTCATGCCCATCTTTGAATGGTGCCTTTGTTTTAGCCTCT TTTGCATACTCACAAACCAATCAGCATGCACTCCCCCATTCTAAGTCCAT AAAAGCCCCAGACCCAGCCACACTGAGGGAGAGACCACCTGACTTCAGGT GGGGGACTACCCTCACATCCCCTCTCTGCTGAGAGCTTTTATGTCACTTA ATAATAAAAATCTTCTCCACCCTTCTCACCCTTGGATTGTAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02895.hp1 HG02896.hp1 others(2): Show HG02109.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0002c0008 a0001c0002 a0001c0007 a0002c0008	a0001c0002t0002 a0001c0002t0005 a0001c0007t0021 others(1): Show a0001c0002t0002 a0001c0002t0005 a0001c0007t0021 a0002c0008t0012	a0001c0002t0002g0152 a0001c0002t0005g0150 a0001c0002t0005g0151 others(2): Show a0001c0002t0002g0152 a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0007t0021g0238 a0002c0008t0012g0239	5	396	0.0126	-692	c.-51 others(11): Show c.-5174_-4483del	FBXO17	ENSG00000269190.6	transcript	ENST00000292852.9	protein_coding		4309		chr19	TogoVar
GRIN1_chr9_137134154_137173756	137144694	GGAGGGGG others(685): Show GGAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGGGGTGTGGGGACAGGA GTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGGGTGGTAGG GACAGGGGTGGGAGACACGAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCA GGGTGGCAGGGATGGGATGGGAGACACGAGGGGGTCCCAGAGTCTAGAAA GTGTCCCCAGGGGTGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGT CCAGAAAGTGTCCCCAGAGGGGTGGGGACAGGAGTGAGAGGAAGGGGGTC CCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACAGGAGTGAGAGGAA GGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACCGGGGTG AGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGAGGGGTGGGGAC CGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGGGGTG TGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCC AGAGGGGTGGGGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAG TGTCCCCAGAGGGGTGGGGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTC CAGAAAGTGTCCCCAGGGTGGTAGGGACAGGGGTGGGAGACAC	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	295	0.0034	-692	c.394 others(15): Show c.394-996_394-305del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar

Search by Variant

Search

Search Results