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
MAPK1_chr22_21754657_21872645	21814451	AACTGTGT others(164): Show AACTGTGTACTTAAAAATGATTAAGATGGCAAATTGTATGCTTTTTACCA AAACATATAATTAACCAAAACAATTTTACTTTGTAAAGAGATGAAGTCTC GGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAAGCTGA GGTGGGTGGATCACGAGGTCAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	348	0.0029	-171	c.120 others(17): Show c.120-6776_120-6606del	MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8			chr22	TogoVar
MBP_chr18_76973833_77137783	77115893	GAAGGCAA others(164): Show GAAGGCAATGTGTGGTCATTAACCTCACTGTGGTCCCTCAGAAGACCTGG CTCTGAGCTGTCTCCTGAGGGGCCCCACATCTTCACATGAGTGTGCAGCA CTTTACTGGGCAACTGCCTTTCAGAACCTTCTGGAACTTTCCAGAGTCTT CCAGGTTCTAATCAAGGAAAAT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00621.hp2 others(45): Show HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01516.hp1 HG02015.hp1 HG02071.hp2 HG02109.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02717.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03516.hp1 HG03927.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18943.hp2 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19079.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0012 a0001c0002t0019 a0001c0003t0010 a0001c0003t0025 a0001c0009t0001 a0006c0011t0005	a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0002g0239 others(44): Show a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0002g0330 a0001c0001t0003g0026 a0001c0001t0003g0074 a0001c0001t0003g0201 a0001c0001t0004g0020 a0001c0001t0004g0023 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0001 a0001c0001t0005g0232 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0247 a0001c0001t0005g0277 a0001c0001t0006g0243 a0001c0001t0006g0299 a0001c0001t0008g0334 a0001c0001t0009g0207 a0001c0001t0009g0215 a0001c0001t0010g0021 a0001c0001t0010g0209 a0001c0001t0011g0148 a0001c0001t0011g0206 a0001c0001t0011g0213 a0001c0001t0014g0268 a0001c0001t0014g0278 a0001c0001t0015g0343 a0001c0001t0022g0204 a0001c0001t0035g0203 a0001c0002t0001g0212 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0004g0111 a0001c0002t0007g0379 a0001c0002t0012g0197 a0001c0002t0019g0276 a0001c0003t0010g0210 a0001c0003t0010g0211 a0001c0003t0025g0245 a0001c0009t0001g0205 a0006c0011t0005g0269	48	396	0.1212	-171	c.-25 others(19): Show c.-25-10778_-25-10608del	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MLPH_chr2_237482251_237560322	237543857	GGACAGTG others(164): Show GGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGG GAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGT GGGGGGACAGTGGTGAGTGGGA	G G	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	286	0.0035	-171	c.153 others(19): Show c.1539+1200_1539+1370del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544976	GGGGACAG others(164): Show GGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGAGTG GGGGCACAGTGGTGAGTGGGGACAGTGGGTGGAGGGGGCACTATTGGTAG GGGGGACAATTATTGGGGGGGGGCACTAATTGTGAGGGGGGACCAGTGTT GAGTGGGGGAATAGTTATGAGT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0227 a0007c0007t0002g0228 a0007c0007t0002g0227 a0007c0007t0002g0228	2	286	0.0070	-171	c.154 others(19): Show c.1540-1626_1540-1456del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPG_chr16_73225_90846	81626	CACACTGA others(164): Show CACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAA TGCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCC TCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGCCCTCCTGAATGCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	442	0.0023	-171	c.301 others(17): Show c.301-1425_301-1255del	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3			chr16	TogoVar
MPG_chr16_73225_90846	81975	ACCCCTTC others(164): Show ACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCC CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCC TCCTGAATGCTCCCCACGCTGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03225.hp1 NA19240.hp2 HG02145.hp1 HG03225.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0101 a0001c0002t0001g0126 a0001c0002t0001g0087 a0001c0002t0001g0101 a0001c0002t0001g0126	3	442	0.0068	-171	c.301 others(16): Show c.301-1026_301-856del	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPPED1_chr22_43407014_43512848	43496678	GATGGTGG others(164): Show GATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGG TGGAAGTGGTGGTGGTGGAGGTAGTGGTGGTGGTGATGGTGGTGGTGGAG GTGGTGGTGGAGGTGGTGGTGGCGGAGGTGGTGGTGGTGGAGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03209.hp1 NA18906.hp1 others(1): Show HG02572.hp1 HG03209.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0003t0008 a0001c0001t0002 a0001c0003t0002 a0001c0003t0008	a0001c0001t0002g0008 a0001c0003t0002g0168 a0001c0003t0008g0037 others(1): Show a0001c0001t0002g0008 a0001c0003t0002g0168 a0001c0003t0008g0037 a0001c0003t0008g0194	4	250	0.0160	-171	c.633 others(17): Show c.633-1556_633-1386del	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6			chr22	TogoVar
MYO1F_chr19_8515778_8582442	8543696	GTGGTGGT others(164): Show GTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCT GGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGG TGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGCTGGTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03139.hp2 NA19030.hp1 HG02615.hp2 HG03139.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0003t0010 a0001c0001t0002 a0001c0001t0005 a0001c0003t0010	a0001c0001t0002g0149 a0001c0001t0005g0011 a0001c0003t0010g0248 a0001c0001t0002g0149 a0001c0001t0005g0011 a0001c0003t0010g0248	3	342	0.0088	-171	c.152 others(17): Show c.1524+430_1524+600del	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
NCAPG2_chr7_158626169_158709804	158668068	CCCTCCTT others(164): Show CCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGG TCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACT ACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCCCCCT TACCCACTACTGGGTCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	378	0.0027	-171	c.147 others(19): Show c.1479+3275_1480-3319del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCOR2_chr12_124319415_124572612	124373365	ATGAGGCC others(164): Show ATGAGGCCAGTGCGTGTGCAGGGGCCCCGGGCACAGTGGACAATCACGAG GCCAGTGCGTGCGCAGGGGCCCCGGGCACAGTGGGCAGTGAGGCCAGTGC GTGCGCAGGGGCCCCGGGCACAGTGGACAGTGAGGCCAGTGCGTGCGCAG GGGCCCCGGGCACAGTGGACAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02451.hp1 others(6): Show HG02055.hp1 HG02258.hp2 HG02451.hp1 HG02630.hp2 HG02717.hp1 HG02965.hp2 HG03453.hp1 HG03471.hp1 NA21309.hp2	a0007 a0016 a0032 others(1): Show a0007 a0016 a0032 a0048	a0007c0035 a0007c0036 a0007c0126 others(4): Show a0007c0035 a0007c0036 a0007c0126 a0016c0134 a0016c0155 a0032c0125 a0048c0077	a0007c0035t0007 a0007c0035t0010 a0007c0036t0015 others(6): Show a0007c0035t0007 a0007c0035t0010 a0007c0036t0015 a0007c0036t0017 a0007c0126t0001 a0016c0134t0001 a0016c0155t0001 a0032c0125t0058 a0048c0077t0021	a0007c0035t0007g0224 a0007c0035t0010g0225 a0007c0036t0015g0175 others(6): Show a0007c0035t0007g0224 a0007c0035t0010g0225 a0007c0036t0015g0175 a0007c0036t0017g0059 a0007c0126t0001g0107 a0016c0134t0001g0172 a0016c0155t0001g0135 a0032c0125t0058g0166 a0048c0077t0021g0101	9	234	0.0385	-171	c.221 others(17): Show c.2218+877_2219-756del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48			chr12	TogoVar
NCOR2_chr12_124319415_124572612	124373494	GTGAGGCC others(164): Show GTGAGGCCAGTGCGTGCGCAGGGGCCCCGGGCACAGTGGACAGTGAGGCC AGTGCGTGCGCAGGGGCCCCGGGCACAGTGGGCAGTGAGGCCAGTGCGTG CGCAGGGGCCCCGGGCACAGTGGGCAGTGAGGCCAGTGCGTGCGCAGGGG CCCCGGGCACAGTGGACAATCA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0052 a0052	a0052c0063 a0052c0063	a0052c0063t0036 a0052c0063t0036	a0052c0063t0036g0115 a0052c0063t0036g0115	1	234	0.0043	-171	c.221 others(17): Show c.2218+748_2219-885del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48			chr12	TogoVar
NFATC1_chr18_79390930_79534323	79505434	GAGAAGAG others(164): Show GAGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGATGCTGGAGGCCCT TGGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGG AGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTG GTGGATGAGACCCTTGGGTGAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0028 a0001c0010t0028	a0001c0010t0028g0004 a0001c0010t0028g0004	1	322	0.0031	-171	c.278 others(21): Show c.2782+18498_2782+18668del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9			chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505479	GCCCTTGG others(164): Show GCCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGT GCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGG AGGTGGTGGATGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGCG TGGGAGGAGGTGGTGGACGAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02132.hp2 HG03041.hp1 HG00621.hp2 HG02132.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0018 a0001c0001 a0001c0004 a0001c0018	a0001c0001t0001 a0001c0004t0002 a0001c0018t0004 a0001c0001t0001 a0001c0004t0002 a0001c0018t0004	a0001c0001t0001g0236 a0001c0004t0002g0093 a0001c0018t0004g0303 a0001c0001t0001g0236 a0001c0004t0002g0093 a0001c0018t0004g0303	3	322	0.0093	-171	c.278 others(21): Show c.2782+18668_2782+18838del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NOC4L_chr12_132139457_132157468	132149844	CCACACCC others(164): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0096 a0005c0013t0001g0096	1	294	0.0034	-171	c.901 others(15): Show c.901+986_902-930del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149881	ACTCCTAC others(164): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0194 a0001c0041t0001g0194	1	294	0.0034	-171	c.901 others(15): Show c.901+990_902-926del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149886	TACCACAC others(164): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0049 a0001c0004t0001g0049	1	294	0.0034	-171	c.901 others(16): Show c.901+1035_902-881del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NPRL3_chr16_80386_143673	81975	ACCCCTTC others(164): Show ACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCC CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCC TCCTGAATGCTCCCCACGCTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03225.hp2 NA19240.hp1 HG02145.hp1 HG03225.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0012 a0002c0003t0009 a0001c0001t0002 a0001c0001t0012 a0002c0003t0009	a0001c0001t0002g0338 a0001c0001t0012g0316 a0002c0003t0009g0344 a0001c0001t0002g0338 a0001c0001t0012g0316 a0002c0003t0009g0344	3	350	0.0086	-171	c.45 others(11): Show c.4559_*4729del	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3410		chr16	TogoVar
NXN_chr17_794310_984776	941176	TCCTGGAT others(164): Show TCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCA AACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAA TTCACCAAACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAG CCATGAATTCACCACACACCTC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	242	0.0041	-171	c.360 others(19): Show c.360+37972_360+38142del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	941511	AACACCTC others(164): Show AACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAA CTCACATCACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGTGCAG CCATGAATTCACCAAACACCTCCCTGGATTTACAGCGAACAAGATTCCAG GGCACAGCCATGAACTCACATC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	242	0.0041	-171	c.360 others(19): Show c.360+37637_360+37807del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	941575	TCCTGGAT others(164): Show TCCTGGATTTACAGCGAACAAGATTCCAGGGTGCAGCCATGAATTCACCA AACACCTCCCTGGATTTACAGCGAACAAGATTCCAGGGCACAGCCATGAA CTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAG CCATGAATTCACCAAACACCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00099.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0136 a0001c0001t0013g0220 a0001c0001t0002g0136 a0001c0001t0013g0220	2	242	0.0083	-171	c.360 others(19): Show c.360+37573_360+37743del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	941813	ACAGTGAA others(164): Show ACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCC TGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGAACTCACATCAC ACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGTGCAGCCATGAATTC ACCAAACACCTCCCTGGATTTC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	242	0.0041	-171	c.360 others(19): Show c.360+37335_360+37505del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	941910	CACACCTT others(164): Show CACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGTGCAGCCATGAA TTCACCAAACACCTCCCTGGATTTCCAGTGAACAAGATTCCAGGGTGCAG CCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAG GGTGCAGCCATGAATTCACCAA	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18984.hp2 NA19066.hp1 NA18951.hp1 NA18984.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0187 a0001c0001t0002g0188 a0001c0001t0004g0096 a0001c0001t0001g0187 a0001c0001t0002g0188 a0001c0001t0004g0096	3	242	0.0124	-171	c.360 others(19): Show c.360+37238_360+37408del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	942080	AAACACCT others(164): Show AAACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGA ATTCACCAAACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGCGCA GCCATGAATTCACCACACACCTCCCTGGATTTACAGTGAACAAGATTCCA GGGTGCAGCCATGAACTCACAT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0112 a0001c0001t0002g0148 a0001c0001t0002g0056 a0001c0001t0002g0112 a0001c0001t0002g0148	3	242	0.0124	-171	c.360 others(19): Show c.360+37068_360+37238del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	942251	TCACACCT others(164): Show TCACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGA ATTCACCAAACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGCA GCCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCA GGGTGCAGCCATGAATTCACCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00642.hp1 others(59): Show HG00099.hp1 HG00544.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01496.hp2 HG01978.hp2 HG02015.hp1 HG02071.hp2 HG02257.hp2 HG02486.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp2 NA18983.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19060.hp1 NA19060.hp2 NA19240.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0002t0004 a0001c0002t0009 a0001c0007t0001 a0004c0008t0002	a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0063 others(59): Show a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0107 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0166 a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0050 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0095 a0001c0001t0002g0128 a0001c0001t0002g0149 a0001c0001t0002g0167 a0001c0001t0002g0178 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0003g0058 a0001c0001t0003g0085 a0001c0001t0003g0153 a0001c0001t0003g0157 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0205 a0001c0001t0004g0129 a0001c0001t0004g0224 a0001c0001t0005g0054 a0001c0001t0005g0059 a0001c0001t0005g0132 a0001c0001t0005g0209 a0001c0001t0006g0144 a0001c0001t0006g0172 a0001c0001t0006g0184 a0001c0001t0008g0176 a0001c0001t0010g0003 a0001c0001t0012g0018 a0001c0001t0014g0113 a0001c0001t0017g0002 a0001c0001t0020g0164 a0001c0001t0025g0200 a0001c0001t0028g0091 a0001c0001t0030g0237 a0001c0001t0031g0238 a0001c0002t0004g0158 a0001c0002t0009g0008 a0001c0002t0009g0009 a0001c0007t0001g0089 a0004c0008t0002g0150	62	242	0.2562	-171	c.360 others(19): Show c.360+36897_360+37067del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	942479	AAACACCT others(164): Show AAACACCTCCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGA ACTCACATCACACCTTCCTGGATTTACGGTGAACAAGATTCCAGGGTGCA GCCATGAATTCACCAAACACCTTCCTGGATTTCCAGTGAACAAGATTCCA GGGTGCAGCCATGAACTCACAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02015.hp2 HG02071.hp1 others(6): Show HG00621.hp1 HG02015.hp2 HG02071.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 NA19000.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0090 a0001c0001t0001g0124 a0001c0001t0002g0133 others(6): Show a0001c0001t0001g0090 a0001c0001t0001g0124 a0001c0001t0002g0133 a0001c0001t0003g0078 a0001c0001t0003g0193 a0001c0001t0003g0210 a0001c0001t0004g0155 a0001c0001t0006g0168 a0001c0001t0010g0006	9	242	0.0372	-171	c.360 others(19): Show c.360+36669_360+36839del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	942487	CCCTGGAT others(164): Show CCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGAACTCACAT CACACCTTCCTGGATTTACGGTGAACAAGATTCCAGGGTGCAGCCATGAA TTCACCAAACACCTTCCTGGATTTCCAGTGAACAAGATTCCAGGGTGCAG CCATGAACTCACATCACACCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	242	0.0041	-171	c.360 others(19): Show c.360+36661_360+36831del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	942772	CCCTGGAT others(164): Show CCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACAT CACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAA TTCACCAAACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAG CCATGAACTCACATCACACCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00544.hp1 others(68): Show HG00099.hp1 HG00323.hp2 HG00544.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01496.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02257.hp2 HG02486.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18952.hp2 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp2 NA18983.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19060.hp1 NA19060.hp2 NA19240.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0002t0004 a0001c0002t0009 a0001c0003t0008 a0001c0004t0002 a0001c0004t0007 a0001c0007t0001 a0004c0008t0002	a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0030 others(68): Show a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0107 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0166 a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0050 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0095 a0001c0001t0002g0128 a0001c0001t0002g0136 a0001c0001t0002g0149 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0178 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0003g0058 a0001c0001t0003g0085 a0001c0001t0003g0153 a0001c0001t0003g0157 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0205 a0001c0001t0004g0129 a0001c0001t0004g0224 a0001c0001t0005g0054 a0001c0001t0005g0059 a0001c0001t0005g0132 a0001c0001t0005g0209 a0001c0001t0006g0144 a0001c0001t0006g0172 a0001c0001t0006g0184 a0001c0001t0007g0023 a0001c0001t0008g0176 a0001c0001t0010g0003 a0001c0001t0012g0018 a0001c0001t0014g0113 a0001c0001t0017g0002 a0001c0001t0020g0164 a0001c0001t0023g0052 a0001c0001t0025g0200 a0001c0001t0028g0091 a0001c0001t0030g0237 a0001c0001t0031g0238 a0001c0002t0004g0158 a0001c0002t0009g0008 a0001c0002t0009g0009 a0001c0003t0008g0022 a0001c0004t0002g0232 a0001c0004t0007g0233 a0001c0007t0001g0089 a0004c0008t0002g0150	71	242	0.2934	-171	c.360 others(19): Show c.360+36376_360+36546del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948951	TCCCCCCT others(164): Show TCCCCCCTGCCTCCTCCTCTCCCCGCGGGCTCCTCCTCTCCCCCCGGGCT CCTCCTCTCCCCCCGGGCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCT CTCCCCGTGGCCTCCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG01071.hp2 others(16): Show HG00609.hp2 HG00621.hp1 HG01071.hp2 HG01074.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG03654.hp2 HG03831.hp1 HG03834.hp2 HG04199.hp1 NA18612.hp2 NA18943.hp2 NA18951.hp2 NA18971.hp2 NA18972.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0018	a0001c0001t0002g0021 a0001c0001t0002g0053 a0001c0001t0002g0088 others(16): Show a0001c0001t0002g0021 a0001c0001t0002g0053 a0001c0001t0002g0088 a0001c0001t0002g0102 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0194 a0001c0001t0002g0215 a0001c0001t0003g0038 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0193 a0001c0001t0004g0039 a0001c0001t0004g0155 a0001c0001t0005g0048 a0001c0001t0006g0168 a0001c0001t0018g0005	19	242	0.0785	-171	c.360 others(19): Show c.360+30197_360+30367del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OTUD7A_chr15_31470398_31875673	31510540	TGTATATC others(164): Show TGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACATA TGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACATA TGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACATA TGTATATCTATATGTAACATAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03139.hp1 HG03098.hp2 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0011 a0003c0022 a0001c0011 a0003c0022	a0001c0011t0098 a0003c0022t0052 a0001c0011t0098 a0003c0022t0052	a0001c0011t0098g0207 a0003c0022t0052g0089 a0001c0011t0098g0207 a0003c0022t0052g0089	2	244	0.0082	-171	c.894 others(17): Show c.894-6893_894-6723del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PCGF3_chr4_700832_775089	744702	GGGGGTCG others(164): Show GGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01168.hp2 HG03195.hp1 others(7): Show HG00558.hp2 HG01168.hp2 HG03195.hp1 HG04204.hp2 NA18980.hp1 NA19004.hp1 NA19056.hp1 NA19080.hp2 NA19085.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0001t0038 a0001c0003t0005 others(1): Show a0001c0001t0013 a0001c0001t0038 a0001c0003t0005 a0001c0003t0054	a0001c0001t0013g0012 a0001c0001t0038g0010 a0001c0003t0005g0125 others(7): Show a0001c0001t0013g0012 a0001c0001t0038g0010 a0001c0003t0005g0125 a0001c0003t0005g0137 a0001c0003t0005g0138 a0001c0003t0005g0139 a0001c0003t0005g0141 a0001c0003t0005g0142 a0001c0003t0005g0143 a0001c0003t0054g0134	10	366	0.0273	-171	c.462 others(14): Show c.462+36_462+206del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744724	TTCGCCGT others(164): Show TTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0009 a0001c0001t0027g0009	1	366	0.0027	-171	c.462 others(14): Show c.462+93_462+263del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744784	GCCGTGGA others(164): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02735.hp2 HG03491.hp1 others(3): Show HG02257.hp1 HG02735.hp2 HG03491.hp1 HG03492.hp1 NA19004.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0031 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0031 a0001c0004t0020	a0001c0001t0001g0232 a0001c0001t0006g0082 a0001c0001t0006g0083 others(3): Show a0001c0001t0001g0232 a0001c0001t0006g0082 a0001c0001t0006g0083 a0001c0001t0006g0086 a0001c0001t0031g0105 a0001c0004t0020g0118	6	366	0.0164	-171	c.462 others(15): Show c.462+150_462+320del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744984	CCCGGGGG others(164): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	366	0.0027	-171	c.462 others(15): Show c.462+299_462+469del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745328	GGGGGTCG others(164): Show GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01978.hp1 HG02129.hp2 others(3): Show HG00621.hp2 HG01978.hp1 HG02129.hp2 HG03486.hp1 NA18945.hp1 NA19055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0002g0168 a0001c0001t0002g0176 a0001c0001t0002g0245 others(3): Show a0001c0001t0002g0168 a0001c0001t0002g0176 a0001c0001t0002g0245 a0001c0001t0003g0180 a0001c0001t0003g0187 a0002c0002t0001g0230	6	366	0.0164	-171	c.462 others(15): Show c.462+811_462+981del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746830	CTCGCCGT others(164): Show CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAG TGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGTCGCTGCAGTGTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	366	0.0027	-171	c.462 others(17): Show c.462+2177_462+2347del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747175	GCCGTGGA others(164): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCT	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18943.hp1 HG01346.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0274 a0001c0001t0008g0275 a0001c0001t0008g0274 a0001c0001t0008g0275	2	366	0.0055	-171	c.462 others(17): Show c.462+2581_462+2751del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747318	CCCGGGGG others(164): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0129 a0001c0003t0010g0129	1	366	0.0027	-171	c.462 others(17): Show c.462+2633_462+2803del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747400	CTCGCCGT others(164): Show CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAG TGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGTCGCTGCAGTGTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01167.hp1 NA18960.hp1 others(4): Show HG00558.hp2 HG01167.hp1 NA18960.hp1 NA18998.hp2 NA19004.hp1 NA19085.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0066 a0001c0003t0005	a0001c0001t0001g0007 a0001c0001t0004g0015 a0001c0001t0008g0246 others(4): Show a0001c0001t0001g0007 a0001c0001t0004g0015 a0001c0001t0008g0246 a0001c0001t0066g0091 a0001c0003t0005g0125 a0001c0003t0005g0139 a0001c0003t0005g0142	7	366	0.0191	-171	c.462 others(17): Show c.462+2747_462+2917del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE1A_chr2_182135041_182432036	182402995	ATGGCGAC others(164): Show ATGGCGACCATTAAAAAGTCAGGAAACAACAGATGCTGGAGAGGATATGG AGAAATAGGAATGCTTTTACAGTGTTGATGGGAGTGTAAATTAGTTCAAC CATTGTGGAAGACAGTGTGATGATTCCTCAAGAATCTAGAACCAGAAATA CCATTTGACCCAGCAATCCCAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02451.hp2 HG02647.hp2 others(2): Show HG01081.hp1 HG02451.hp2 HG02647.hp2 HG02970.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 others(1): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0001t0025	a0001c0001t0003g0048 a0001c0001t0013g0046 a0001c0001t0015g0047 others(2): Show a0001c0001t0003g0048 a0001c0001t0013g0046 a0001c0001t0015g0047 a0001c0001t0015g0049 a0001c0001t0025g0045	5	264	0.0189	-171	c.53+ others(17): Show c.53+23412_53+23582del	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE3A_chr12_20363537_20693583	20626125	CATTTTAG others(164): Show CATTTTAGAAAATTTTAAAAACTTCCAAAGGTTATTCATCCCTATTCCTT AGACTGTCCTCTTTCTGTATCTGAAATAATTTATTTATAGTTTATCCTTT CTATAAAGAAAATTTGGTTATTATCTGCATTTATCTCCCTATCTTTTTGA AGACCGATACGGTCTTCAAAAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02145.hp1 others(5): Show HG01243.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG03471.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0004 a0003c0018 a0001c0003 a0002c0004 a0003c0018	a0001c0003t0037 a0001c0003t0048 a0001c0003t0058 others(5): Show a0001c0003t0037 a0001c0003t0048 a0001c0003t0058 a0001c0003t0077 a0001c0003t0095 a0002c0004t0129 a0002c0004t0135 a0003c0018t0099	a0001c0003t0037g0183 a0001c0003t0048g0103 a0001c0003t0058g0113 others(5): Show a0001c0003t0037g0183 a0001c0003t0048g0103 a0001c0003t0058g0113 a0001c0003t0077g0015 a0001c0003t0095g0076 a0002c0004t0129g0038 a0002c0004t0135g0186 a0003c0018t0099g0188	8	198	0.0404	-171	c.154 others(19): Show c.1541-3780_1541-3610del	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDGFA_chr7_492258_524846	510628	CAGGGCTC others(164): Show CAGGGCTCACCTTGACGCTGTGGTGGTGGATGCAGGAGGGACCCTGGCTG CTTGGTAGGGGCGGCCCCGGGCTTGGGTGGGGAGGGGAGGGGAGGGGAGA GGAGGGGAGGGGAGAGGAGAGGAGGGGAGGGGAGAGGAGAGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02293.hp1 HG01496.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0030 a0001c0002t0002 a0001c0002t0030	a0001c0002t0002g0050 a0001c0002t0030g0049 a0001c0002t0002g0050 a0001c0002t0030g0049	2	302	0.0066	-171	c.453 others(14): Show c.453+10_453+180del	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PHKA2_chrX_18887298_18989114	18972839	TACATGGG others(164): Show TACATGGGGGCACAATTACAATGCTGAATAGAGGGGGTGATAGTGGGGAT CCTTCAAGTTCTTGACTTTAAATCTTTCCCCAATACATTACTTACGAGGT TTGTAGATTTATTTTCACATTACCCTTTATCAAGATAATAAAATTCCATT GTATGCCTCATTGTCTAAGAGG	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	201	0.0050	-171	c.78+ others(17): Show c.78+10845_78+11015del	PHKA2	ENSG00000044446.12	transcript	ENST00000379942.5	protein_coding	1/32			chrX	TogoVar
PLK5_chr19_1519077_1541046	1528498	TGCCCACG others(164): Show TGCCCACGCCTCCCACCTGCCCACACCTCCCACCTGCCCACGCCTCCCAC CTGCCCACGCCTCCCACCTGCCCACGCCTCCCACCTGCCCACGCCTCCCA CCTGCCCACGCCCCCCACCTGCCCACGCCCCCCACCTGCCCACACCTCCC ACCTGCCCACACCTCCCACCTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00733.hp2 others(60): Show HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp2 HG02109.hp1 HG02132.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02738.hp2 HG02895.hp2 HG02922.hp2 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA19043.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0010 a0004c0011 a0013c0018	a0001c0001t0011 a0002c0002t0015 a0002c0002t0060 others(8): Show a0001c0001t0011 a0002c0002t0015 a0002c0002t0060 a0002c0002t0072 a0003c0003t0002 a0003c0003t0018 a0003c0003t0053 a0003c0003t0054 a0004c0010t0011 a0004c0011t0062 a0013c0018t0011	a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0011g0153 others(40): Show a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0011g0153 a0001c0001t0011g0154 a0001c0001t0011g0156 a0001c0001t0011g0157 a0002c0002t0015g0147 a0002c0002t0015g0159 a0002c0002t0015g0239 a0002c0002t0060g0325 a0002c0002t0072g0168 a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0008 a0003c0003t0002g0011 a0003c0003t0002g0025 a0003c0003t0002g0027 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0148 a0003c0003t0002g0149 a0003c0003t0002g0155 a0003c0003t0002g0158 a0003c0003t0002g0161 a0003c0003t0002g0162 a0003c0003t0002g0163 a0003c0003t0002g0164 a0003c0003t0002g0165 a0003c0003t0002g0169 a0003c0003t0002g0172 a0003c0003t0002g0240 a0003c0003t0002g0241 a0003c0003t0002g0242 a0003c0003t0002g0243 a0003c0003t0018g0003 a0003c0003t0018g0004 a0003c0003t0018g0026 a0003c0003t0053g0129 a0003c0003t0054g0127 a0004c0010t0011g0146 a0004c0011t0062g0230 a0013c0018t0011g0150	63	430	0.1465	-171	c.328 others(14): Show c.328+71_329-229del	PLK5	ENSG00000185988.15	transcript	ENST00000454744.7	protein_coding	8/13			chr19	TogoVar
PRKCA_chr17_66297613_66815743	66798662	GTGGTGGT others(164): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0016 a0001c0001t0041g0016	1	178	0.0056	-171	c.185 others(19): Show c.1855-5199_1855-5029del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799374	TGGTGGTG others(164): Show TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGG TGGTGATGGTGGTGGTAGTGAC	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0152 a0001c0003t0011g0152	1	178	0.0056	-171	c.185 others(19): Show c.1855-4488_1855-4318del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PXMP2_chr12_132682587_132709985	132692398	AGCCAGTT others(164): Show AGCCAGTTAATTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCGCCCTT AGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAATTAGTGAGCTCCCTTA GCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGC CAGTTAGTTAGTGAGCACCCTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01346.hp2 others(6): Show HG00140.hp2 HG00733.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01516.hp1 HG01928.hp1 HG01993.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0006 a0001c0002t0002g0009	9	350	0.0257	-171	c.236 others(17): Show c.236+2031_236+2201del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASGEF1C_chr5_180095795_180214211	180096140	TCCTTCCT others(164): Show TCCTTCCTTCCCTCCTTCCTTCCTCCCTTCCTGTCTTCCTTCCCTCCCTC CCTCCCTTCCTTCCTGTCTTCCTCCCTTCCTTCCCTCCTTCCCTCCCTCC CTTCCTTCCTGTCTTCCTTCCTTCCTTCCTGTCTTCCTTCCCTCCCTCCC TCCCTTCCTTCCTGTCTTCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(165): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0024 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0064 a0001c0001t0071 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0024 a0001c0002t0031 a0001c0002t0033 a0001c0002t0055 a0001c0002t0072 a0001c0002t0084 a0001c0006t0001	a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0182 others(165): Show a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0006g0024 a0001c0001t0006g0026 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0006g0041 a0001c0001t0006g0045 a0001c0001t0006g0052 a0001c0001t0007g0159 a0001c0001t0007g0160 a0001c0001t0007g0162 a0001c0001t0007g0163 a0001c0001t0007g0164 a0001c0001t0007g0166 a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0007g0169 a0001c0001t0008g0347 a0001c0001t0008g0359 a0001c0001t0008g0361 a0001c0001t0008g0367 a0001c0001t0009g0068 a0001c0001t0009g0074 a0001c0001t0009g0075 a0001c0001t0009g0079 a0001c0001t0009g0085 a0001c0001t0011g0088 a0001c0001t0011g0090 a0001c0001t0011g0095 a0001c0001t0011g0097 a0001c0001t0011g0098 a0001c0001t0018g0059 a0001c0001t0018g0061 a0001c0001t0018g0062 a0001c0001t0024g0010 a0001c0001t0029g0218 a0001c0001t0029g0229 a0001c0001t0029g0283 a0001c0001t0031g0008 a0001c0001t0033g0019 a0001c0001t0064g0076 a0001c0001t0071g0146 a0001c0002t0001g0176 a0001c0002t0001g0194 a0001c0002t0001g0198 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0002t0001g0234 a0001c0002t0001g0240 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0272 a0001c0002t0001g0280 a0001c0002t0001g0289 a0001c0002t0001g0297 a0001c0002t0001g0302 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0331 a0001c0002t0001g0334 a0001c0002t0001g0336 a0001c0002t0002g0103 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0128 a0001c0002t0002g0140 a0001c0002t0006g0046 a0001c0002t0006g0047 a0001c0002t0006g0049 a0001c0002t0006g0055 a0001c0002t0006g0058 a0001c0002t0007g0165 a0001c0002t0007g0170 a0001c0002t0009g0064 a0001c0002t0009g0067 a0001c0002t0009g0071 a0001c0002t0009g0081 a0001c0002t0024g0013 a0001c0002t0031g0007 a0001c0002t0033g0020 a0001c0002t0055g0023 a0001c0002t0072g0111 a0001c0002t0084g0365 a0001c0006t0001g0337	168	370	0.4541	-171	c.51 others(11): Show c.5190_*5360del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding		4654		chr5	TogoVar
RNF213_chr17_80255852_80403794	80314662	TGGAGGTA others(164): Show TGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTG ATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACT GGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGA AGGTGATGGTGGAGGTAATGGA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0003 a0009c0016t0003	a0009c0016t0003g0138 a0009c0016t0003g0138	1	292	0.0034	-171	c.281 others(19): Show c.2811+1498_2811+1668del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTEL1_chr20_63653312_63701245	63669644	ACCAAGAT others(164): Show ACCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATCCGGACAG ACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATC CGGACAGACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGA GAGCATCCGGACAGACGTTTCG	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 homoSapiens_chm13v2.hp1 HG01258.hp2 homoSapiens_chm13v2.hp1	a0011 a0012 a0011 a0012	a0011c0020 a0012c0021 a0011c0020 a0012c0021	a0011c0020t0001 a0012c0021t0001 a0011c0020t0001 a0012c0021t0001	a0011c0020t0001g0024 a0012c0021t0001g0025 a0011c0020t0001g0024 a0012c0021t0001g0025	2	60	0.0333	-171	c.700 others(17): Show c.700-2285_700-2115del	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63670271	GCCAAGAT others(164): Show GCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATCCGGACAG ACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATC CGGACAGACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGA GAGCATCCGGACAGACGTTTCA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	60	0.0167	-171	c.700 others(17): Show c.700-2279_700-2109del	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr20	TogoVar

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