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
NSUN6_chr10_18540561_18656587	18564873	GTCTCCAT others(42): Show GTCTCCATTCCATTCCATTTCATTGCATTCTATTCTTCATTCCATTCCAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02922.hp2 HG01891.hp1 HG02109.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0191 a0001c0001t0011g0192 a0001c0001t0011g0193 a0001c0001t0011g0191 a0001c0001t0011g0192 a0001c0001t0011g0193	3	346	0.0087	-49	c.923 others(68): Show c.923-12951_923-12903delATGGAATGGAATGAAGAATAGAATGC AATGAAATGGAATGGAATGGAGA	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10			chr10	TogoVar
NTMT1_chr9_129621163_129641135	129637971	TGGAGGGC others(42): Show TGGAGGGCCTGGATCTTTTCCGCCAGGCTGCCCACAGGGTGGATATCGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	416	0.0024	-49	c.25 others(60): Show c.2508_*2556delGGAGGGCCTGGATCTTTTCCGCCAGGCTGCCCAC AGGGTGGATATCGAA	NTMT1	ENSG00000148335.15	transcript	ENST00000372483.9	protein_coding		1837		chr9	TogoVar
NTM_chr11_131365615_132341822	131928562	ATGGTCTC others(42): Show ATGGTCTCCCGTCTGTGTTTTGTCCCACTGCAAACTCTGTTTGTTTTCTG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	86	0.0116	-49	c.167 others(68): Show c.167+17048_167+17096delCTGTTTGTTTTCTGTGGTCTCCCGTC TGTGTTTTGTCCCACTGCAAACT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDT3_chr6_34274679_34397669	34397604	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG06807.hp1 HG02258.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0084 a0001c0001t0083 a0001c0001t0084	a0001c0001t0083g0264 a0001c0001t0084g0265 a0001c0001t0083g0264 a0001c0001t0084g0265	2	270	0.0074	-49	c.-52 others(60): Show c.-5291_-5243delCGGCACGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGA	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding		4936		chr6	TogoVar
NUP155_chr5_37283137_37376106	37296037	TGTCCGGG others(42): Show TGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	300	0.0033	-49	c.379 others(68): Show c.3794-1621_3794-1573delGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGAC	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	32/34			chr5	TogoVar
NUPR1_chr16_28527708_28543974	28535522	TCTTTCTT others(42): Show TCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTCCTTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0251 a0001c0001t0251	a0001c0001t0251g0059 a0001c0001t0251g0059	1	368	0.0027	-49	c.21 others(60): Show c.2112_*2160delGAAGGAAGGAAAGAAAGAAAGAAAGAAGGAAAGA AAGAAAGAAAGAAAG	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2448		chr16	TogoVar
NUSAP1_chr15_41327881_41386046	41382590	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 NA19240.hp2 HG03098.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0172 a0002c0002t0001g0184 a0001c0001t0001g0172 a0002c0002t0001g0184	2	292	0.0069	-49	c.24 others(60): Show c.2405_*2453delTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC TGGCCAGCCGTGCCG	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding		1545		chr15	TogoVar
NUSAP1_chr15_41327881_41386046	41382636	GCCGTCCG others(42): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0217 a0002c0003t0002g0217	1	292	0.0034	-49	c.24 others(60): Show c.2451_*2499delCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCC	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding		1591		chr15	TogoVar
NUSAP1_chr15_41327881_41386046	41383101	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 NA18959.hp1 HG03540.hp2 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0085 a0002c0002t0001g0200 a0001c0001t0002g0085 a0002c0002t0001g0200	2	292	0.0069	-49	c.29 others(60): Show c.2916_*2964delGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCC	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding		2056		chr15	TogoVar
NXN_chr17_794310_984776	844257	GTCCCACC others(42): Show GTCCCACCCATCCTTAGCTGGAAGGTGGCGGCCAGGCCATCACACGTCCC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	242	0.0041	-49	c.361 others(68): Show c.361-18228_361-18180delGGGACGTGTGATGGCCTGGCCGCCAC CTTCCAGCTAAGGATGGGTGGGA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	844299	CACGTCCC others(42): Show CACGTCCCGTCCTGCCCTCCTTAGCTGGAAGGTGGAGACCAGGCCATCAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00673.hp2 others(25): Show HG00544.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG01975.hp1 HG02056.hp2 HG02698.hp2 HG02738.hp2 HG03927.hp2 HG04184.hp2 NA18939.hp2 NA18948.hp1 NA18951.hp1 NA18955.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19060.hp1 NA19060.hp2 NA19070.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0004c0008t0002	a0001c0001t0001g0060 a0001c0001t0001g0107 a0001c0001t0001g0138 others(25): Show a0001c0001t0001g0060 a0001c0001t0001g0107 a0001c0001t0001g0138 a0001c0001t0001g0221 a0001c0001t0002g0021 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0114 a0001c0001t0002g0141 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0188 a0001c0001t0002g0213 a0001c0001t0003g0085 a0001c0001t0003g0143 a0001c0001t0003g0180 a0001c0001t0004g0039 a0001c0001t0005g0054 a0001c0001t0008g0176 a0001c0001t0008g0192 a0001c0001t0018g0005 a0001c0001t0019g0004 a0001c0001t0020g0164 a0004c0008t0002g0150	28	242	0.1157	-49	c.361 others(68): Show c.361-18270_361-18222delATGATGGCCTGGTCTCCACCTTCCAG CTAAGGAGGGCAGGACGGGACGT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	844348	TACGTCCC others(42): Show TACGTCCCGTCCTGCCCTCCTTAGCTGGAAGGTGGAGACCAGGCCATCAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01433.hp1 HG02071.hp1 others(5): Show HG01081.hp1 HG01433.hp1 HG02071.hp1 HG02155.hp1 HG03453.hp2 NA18973.hp2 NA18980.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0026	a0001c0001t0001g0049 a0001c0001t0001g0122 a0001c0001t0001g0124 others(5): Show a0001c0001t0001g0049 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0154 a0001c0001t0003g0070 a0001c0001t0003g0193 a0001c0001t0005g0161 a0001c0001t0026g0173	8	242	0.0331	-49	c.361 others(68): Show c.361-18319_361-18271delGTGATGGCCTGGTCTCCACCTTCCAG CTAAGGAGGGCAGGACGGGACGT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NYAP2_chr2_225394710_225708654	225538773	TTTTCTTT others(42): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0119 a0001c0006t0001g0119	1	192	0.0052	-49	c.523 others(68): Show c.523+25109_523+25157delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
OAS2_chr12_112973519_113016723	112973768	GAGAACCA others(42): Show GAGAACCAGGAGATTGCTGGAATAAGTCCCAATCCAAGTATGAAAGCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	380	0.0026	-49	c.-48 others(60): Show c.-4840_-4792delAGAACCAGGAGATTGCTGGAATAAGTCCCAATCC AAGTATGAAAGCCCA	OAS2	ENSG00000111335.14	transcript	ENST00000392583.7	protein_coding		4750		chr12	TogoVar
OAS3_chr12_112933474_112978251	112973768	GAGAACCA others(42): Show GAGAACCAGGAGATTGCTGGAATAAGTCCCAATCCAAGTATGAAAGCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0119 a0003c0002t0004g0119	1	370	0.0027	-49	c.37 others(60): Show c.3796_*3844delAGAACCAGGAGATTGCTGGAATAAGTCCCAATCC AAGTATGAAAGCCCA	OAS3	ENSG00000111331.14	transcript	ENST00000228928.12	protein_coding		518		chr12	TogoVar
OCA2_chr15_27749875_28104315	28070461	CGGCCAGC others(42): Show CGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG02080.hp1 others(11): Show HG00423.hp2 HG00558.hp1 HG02080.hp1 HG02602.hp1 HG02738.hp2 HG02922.hp1 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG03831.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18973.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0008 a0012	a0001c0002 a0001c0003 a0001c0006 others(9): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0024 a0003c0012 a0003c0013 a0003c0020 a0007c0042 a0007c0043 a0008c0044 a0012c0021	a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 others(9): Show a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0024t0001 a0003c0012t0001 a0003c0013t0001 a0003c0020t0001 a0007c0042t0001 a0007c0043t0001 a0008c0044t0001 a0012c0021t0001	a0001c0002t0001g0097 a0001c0003t0001g0096 a0001c0006t0001g0003 others(11): Show a0001c0002t0001g0097 a0001c0003t0001g0096 a0001c0006t0001g0003 a0001c0007t0001g0024 a0001c0007t0001g0086 a0001c0024t0001g0015 a0003c0012t0001g0014 a0003c0012t0001g0028 a0003c0013t0001g0070 a0003c0020t0001g0083 a0007c0042t0001g0027 a0007c0043t0001g0026 a0008c0044t0001g0071 a0012c0021t0001g0050	14	110	0.1273	-49	c.227 others(68): Show c.227+11138_227+11186delAGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACTGGGCGGCTGGCC	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	2/23			chr15	TogoVar
OMP_chr11_77097840_77108331	77098499	AGGGCTGA others(42): Show AGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG06807.hp2 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	440	0.0046	-49	c.-43 others(60): Show c.-4340_-4292delGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCGGG	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4340		chr11	TogoVar
OPRL1_chr20_64075082_64105633	64104811	CCACAGCA others(42): Show CCACAGCAGGGGGGTACAGGGGAGCACAGGCCATGGAGAGGACCGTCGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0019 a0001c0001t0020g0019	1	66	0.0152	-49	c.60 others(60): Show c.6013_*6061delCACAGCAGGGGGGTACAGGGGAGCACAGGCCATG GAGAGGACCGTCGGA	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding		4179		chr20	TogoVar
OR1S1_chr11_58207720_58221084	58220086	GAGATATT others(42): Show GAGATATTAAAACCAAGCTTACAATGGATAAAGAAATTTGGTTAACAAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG02895.hp1 others(1): Show HG02145.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0003c0004t0001 a0001c0002t0002 a0003c0004t0001	a0001c0002t0002g0002 a0001c0002t0002g0003 a0003c0004t0001g0005 a0001c0002t0002g0002 a0001c0002t0002g0003 a0003c0004t0001g0005	4	460	0.0087	-49	c.43 others(60): Show c.4365_*4413delAGATATTAAAACCAAGCTTACAATGGATAAAGAA ATTTGGTTAACAAAT	OR1S1	ENSG00000280204.4	transcript	ENST00000641544.1	protein_coding		4003		chr11	TogoVar
OR1S1_chr11_58207720_58221084	58220105	TACAATGG others(42): Show TACAATGGATAAAGAAATTTGGTTAACAAATAGATATTAAAACCAAGCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(85): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01891.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02602.hp2 HG02622.hp1 HG02698.hp2 HG02818.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03654.hp1 HG03669.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18939.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18967.hp1 NA18968.hp2 NA18975.hp2 NA18979.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18998.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19067.hp1 NA19070.hp1 NA19078.hp1 NA19082.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA21309.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0002 a0001c0016 a0004c0005 others(1): Show a0001c0002 a0001c0016 a0004c0005 a0008c0015	a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 others(3): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0016t0002 a0004c0005t0002 a0008c0015t0002	a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0013 others(7): Show a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0013 a0001c0002t0002g0019 a0001c0002t0002g0021 a0001c0002t0004g0006 a0001c0002t0007g0002 a0001c0016t0002g0013 a0004c0005t0002g0002 a0008c0015t0002g0006	88	460	0.1913	-49	c.43 others(60): Show c.4384_*4432delACAATGGATAAAGAAATTTGGTTAACAAATAGAT ATTAAAACCAAGCTC	OR1S1	ENSG00000280204.4	transcript	ENST00000641544.1	protein_coding		4022		chr11	TogoVar
OR4N4C_chr15_21646844_21657968	21653459	ATTTTTAT others(42): Show ATTTTTATATATTTATAAATATATATTTTTATATATTTATAAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0000 a0001c0008t0002g0000	1	216	0.0046	-49	c.57 others(58): Show c.575_*623delTTTTTATATATTTATAAATATATATTTTTATATATT TATAAATATATAT	OR4N4C	ENSG00000279408.3	transcript	ENST00000623441.1	protein_coding		492		chr15	TogoVar
OR4S1_chr11_48301223_48312152	48305931	ATATATTA others(42): Show ATATATTATTATATATAATATAAATTATATATTATATATATAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG02970.hp1 HG02109.hp2 HG02572.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	3	426	0.0070	-49	c.-29 others(58): Show c.-291_-243delTATATTATTATATATAATATAAATTATATATTATAT ATATAATATATAT	OR4S1	ENSG00000176555.1	transcript	ENST00000319988.1	protein_coding		291		chr11	TogoVar
OR6J1_chr14_22625929_22649352	22638014	GTCCGGGA others(42): Show GTCCGGGAGGATGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	362	0.0028	-49	c.-27 others(66): Show c.-27-3225_-27-3177delTGGGGCGGCTGGCCAGGCGGGGGGCTGA CCCCCCCACCATCCTCCCGGA	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
ORC6_chr16_46684659_46703394	46694508	TTCCTGGA others(42): Show TTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC	T T	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	368	0.0027	-49	c.450 others(66): Show c.450-1050_450-1002delTGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCC	ORC6	ENSG00000091651.9	transcript	ENST00000219097.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
OSMR_chr5_38841012_38940641	38861847	AGACGGGG others(42): Show AGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18906.hp1 NA18949.hp1 others(1): Show HG00140.hp2 NA18906.hp1 NA18949.hp1 NA18967.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0001c0001t0034 a0005c0005t0001 others(1): Show a0001c0001t0002 a0001c0001t0034 a0005c0005t0001 a0005c0005t0006	a0001c0001t0002g0018 a0001c0001t0034g0227 a0005c0005t0001g0097 others(1): Show a0001c0001t0002g0018 a0001c0001t0034g0227 a0005c0005t0001g0097 a0005c0005t0006g0195	4	382	0.0105	-49	c.-13 others(66): Show c.-13-7140_-13-7092delTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCC	OSMR	ENSG00000145623.13	transcript	ENST00000274276.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
OSMR_chr5_38841012_38940641	38862274	CGGCTGGC others(42): Show CGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18972.hp2 NA19012.hp2 NA18941.hp2 NA18972.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0134 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0134	3	382	0.0079	-49	c.-13 others(66): Show c.-13-6750_-13-6702delTGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGC	OSMR	ENSG00000145623.13	transcript	ENST00000274276.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
OTOGL_chr12_80094537_80385880	80307554	CGGGTGGG others(42): Show CGGGTGGGGGGCTGACCCCCCAACCTCCCTCCTGGACGGGGCGGCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	168	0.0060	-49	c.333 others(68): Show c.3333+1863_3333+1911delTGGGGGGCTGACCCCCCAACCTCCCT CCTGGACGGGGCGGCTGGCTGGG	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	29/58		INFO_REALIGN_3_PRIME	chr12	TogoVar
OTOGL_chr12_80094537_80385880	80308051	TCCCCCCA others(42): Show TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0032 a0003c0002t0002g0032	1	168	0.0060	-49	c.333 others(68): Show c.3333+2394_3333+2442delTGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGG	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	29/58		INFO_REALIGN_3_PRIME	chr12	TogoVar
OTOG_chr11_17542259_17651044	17613170	TTTTCTTT others(42): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp1 HG03139.hp2 HG02055.hp1 HG02615.hp1 HG03139.hp2	a0006 a0061 a0006 a0061	a0006c0108 a0006c0144 a0061c0150 a0006c0108 a0006c0144 a0061c0150	a0006c0108t0001 a0006c0144t0001 a0061c0150t0001 a0006c0108t0001 a0006c0144t0001 a0061c0150t0001	a0006c0108t0001g0250 a0006c0144t0001g0255 a0061c0150t0001g0040 a0006c0108t0001g0250 a0006c0144t0001g0255 a0061c0150t0001g0040	3	268	0.0112	-49	c.643 others(66): Show c.6439-414_6439-366delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	38/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OXTR_chr3_8745381_8774613	8773117	ATATATAT others(42): Show ATATATATCTATATATATATATATCTATATATATCTATATATATATAATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02647.hp2 HG02818.hp1 HG01109.hp2 HG02647.hp2 HG02818.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0006 a0001c0004 a0004c0006	a0001c0004t0013 a0004c0006t0001 a0004c0006t0046 a0001c0004t0013 a0004c0006t0001 a0004c0006t0046	a0001c0004t0013g0309 a0004c0006t0001g0097 a0004c0006t0046g0095 a0001c0004t0013g0309 a0004c0006t0001g0097 a0004c0006t0046g0095	3	474	0.0063	-49	c.-41 others(60): Show c.-4174_-4126delGATTATATATATATAGATATATATAGATATATAT ATATATAGATATATA	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3505		chr3	TogoVar
P2RX1_chr17_3891592_3921465	3918058	AGAGGGAG others(42): Show AGAGGGAGGAGGAAAGGGAAGGGAAGGGAGGAAGGAGGGAGGAAGGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	378	0.0027	-49	c.-18 others(60): Show c.-1882_-1834delCCTCCCTTCCTCCCTCCTTCCTCCCTTCCCTTCC CTTTCCTCCTCCCTC	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding		1594		chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687514	TCAGAACA others(42): Show TCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0169 a0002c0002t0002g0169	1	362	0.0028	-49	c.981 others(64): Show c.981+449_981+497delGGACGTTGGGAGGGTCCCTGGGGGCCCAGC TGTGTGTTCTCCTGTTCTG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P3H2_chr3_189951728_190125897	189966083	GAAGAAAG others(42): Show GAAGAAAGAAAGAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02572.hp2 HG03225.hp1 others(4): Show HG02040.hp2 HG02572.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 NA18990.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0017 a0001c0002t0002 others(1): Show a0001c0001t0007 a0001c0001t0017 a0001c0002t0002 a0001c0002t0009	a0001c0001t0007g0098 a0001c0001t0017g0003 a0001c0002t0002g0008 others(4): Show a0001c0001t0007g0098 a0001c0001t0017g0003 a0001c0002t0002g0008 a0001c0002t0002g0061 a0001c0002t0002g0199 a0001c0002t0002g0237 a0001c0002t0009g0100	7	304	0.0230	-49	c.189 others(68): Show c.1894-2034_1894-1986delTCTTTCTTTTTCTTTCTTTCTTTCTT TTTTCTTTCTTTCTTTCTTTCTT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14			chr3	TogoVar
PAAF1_chr11_73871999_73936114	73897175	TGCGGGGG others(42): Show TGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18612.hp2 HG02056.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0039 a0001c0001t0023 a0001c0001t0039	a0001c0001t0023g0118 a0001c0001t0039g0125 a0001c0001t0023g0118 a0001c0001t0039g0125	2	370	0.0054	-49	c.283 others(66): Show c.283-1951_283-1903delACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCC	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PABPC1L_chr20_44905060_44944316	44935134	TTTTGGGT others(42): Show TTTTGGGTATATACCCAGAGGTAAAATTGATGGATGATATGGTAATTCTG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02257.hp1 HG00741.hp2 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0068 a0001c0003t0005g0192 a0001c0003t0005g0068 a0001c0003t0005g0192	2	396	0.0051	-49	c.146 others(66): Show c.1460-253_1460-205delGGGTATATACCCAGAGGTAAAATTGATG GATGATATGGTAATTCTGTTT	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PACS2_chr14_105309748_105403147	105330128	AGGAACGG others(42): Show AGGAACGGGGACAGGGAGCCTCCGAGAAGCCTGGGGTCCGTGTGTGGGAC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0043 a0009c0016t0043	a0009c0016t0043g0129 a0009c0016t0043g0129	1	210	0.0048	-49	c.119 others(68): Show c.119+15194_119+15242delCGGGGACAGGGAGCCTCCGAGAAGCC TGGGGTCCGTGTGTGGGACGGAA	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172364	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0125 a0001c0001t0056g0125	1	432	0.0023	-49	c.46 others(60): Show c.4666_*4714delTATATATATATATATATATATATATATATATATA TATATATTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1320		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172368	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01255.hp1 HG03130.hp2 others(1): Show HG01071.hp2 HG01255.hp1 HG03130.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0031 a0001c0001t0040 a0001c0001t0002 a0001c0001t0031 a0001c0001t0040	a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0031g0130 others(1): Show a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0031g0130 a0001c0001t0040g0291	4	432	0.0093	-49	c.46 others(60): Show c.4670_*4718delTATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1324		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172370	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01123.hp2 others(24): Show HG00639.hp2 HG00738.hp1 HG01123.hp2 HG01168.hp2 HG01257.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp2 HG02135.hp1 HG02258.hp2 HG02922.hp2 HG02965.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp1 NA18943.hp2 NA18960.hp2 NA18971.hp1 NA18977.hp2 NA19057.hp1 NA19060.hp2 NA19081.hp2 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0024 a0001c0001t0044 a0001c0001t0046 a0001c0001t0050 a0001c0001t0068 a0001c0001t0074 a0001c0001t0087 a0001c0001t0095	a0001c0001t0002g0039 a0001c0001t0002g0229 a0001c0001t0002g0253 others(24): Show a0001c0001t0002g0039 a0001c0001t0002g0229 a0001c0001t0002g0253 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0288 a0001c0001t0003g0231 a0001c0001t0003g0259 a0001c0001t0010g0002 a0001c0001t0010g0252 a0001c0001t0015g0002 a0001c0001t0018g0041 a0001c0001t0018g0246 a0001c0001t0024g0054 a0001c0001t0024g0055 a0001c0001t0024g0056 a0001c0001t0024g0064 a0001c0001t0044g0002 a0001c0001t0046g0039 a0001c0001t0050g0061 a0001c0001t0050g0066 a0001c0001t0068g0077 a0001c0001t0074g0242 a0001c0001t0087g0080 a0001c0001t0095g0265	27	432	0.0625	-49	c.46 others(60): Show c.4672_*4720delTATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1326		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172372	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(47): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00741.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01255.hp2 HG01346.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02074.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02647.hp1 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG03710.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18957.hp2 NA18965.hp2 NA18970.hp1 NA18975.hp2 NA18979.hp1 NA18983.hp1 NA18987.hp1 NA18990.hp2 NA18998.hp1 NA19000.hp1 NA19007.hp2 NA19062.hp2 NA19068.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0036 a0001c0001t0040 a0001c0001t0046 a0001c0001t0065 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0090 a0001c0001t0093	a0001c0001t0002g0019 a0001c0001t0002g0038 a0001c0001t0002g0040 others(44): Show a0001c0001t0002g0019 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0228 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0243 a0001c0001t0002g0254 a0001c0001t0002g0278 a0001c0001t0002g0284 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0230 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0251 a0001c0001t0003g0256 a0001c0001t0003g0262 a0001c0001t0003g0267 a0001c0001t0003g0280 a0001c0001t0010g0037 a0001c0001t0010g0260 a0001c0001t0010g0268 a0001c0001t0015g0003 a0001c0001t0015g0266 a0001c0001t0015g0271 a0001c0001t0018g0239 a0001c0001t0018g0277 a0001c0001t0018g0298 a0001c0001t0036g0062 a0001c0001t0036g0074 a0001c0001t0040g0285 a0001c0001t0046g0232 a0001c0001t0065g0019 a0001c0001t0075g0227 a0001c0001t0076g0003 a0001c0001t0078g0258 a0001c0001t0079g0279 a0001c0001t0081g0287 a0001c0001t0090g0211 a0001c0001t0093g0270	50	432	0.1157	-49	c.46 others(60): Show c.4674_*4722delTATATATATATATATATATATATATATATATATT TTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1328		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172374	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(41): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02735.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18612.hp1 NA18939.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18978.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19060.hp1 NA19074.hp2 NA19075.hp1 NA19081.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0016 others(18): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0041 a0001c0001t0048 a0001c0001t0049 a0001c0001t0066 a0001c0001t0067 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0089	a0001c0001t0002g0286 a0001c0001t0013g0006 a0001c0001t0013g0021 others(39): Show a0001c0001t0002g0286 a0001c0001t0013g0006 a0001c0001t0013g0021 a0001c0001t0013g0067 a0001c0001t0013g0069 a0001c0001t0013g0070 a0001c0001t0013g0073 a0001c0001t0016g0007 a0001c0001t0016g0022 a0001c0001t0016g0087 a0001c0001t0016g0088 a0001c0001t0016g0089 a0001c0001t0017g0022 a0001c0001t0017g0084 a0001c0001t0020g0007 a0001c0001t0021g0052 a0001c0001t0021g0053 a0001c0001t0022g0006 a0001c0001t0022g0042 a0001c0001t0022g0046 a0001c0001t0022g0072 a0001c0001t0023g0050 a0001c0001t0023g0063 a0001c0001t0023g0078 a0001c0001t0029g0058 a0001c0001t0029g0086 a0001c0001t0030g0006 a0001c0001t0030g0049 a0001c0001t0030g0079 a0001c0001t0041g0006 a0001c0001t0041g0076 a0001c0001t0048g0048 a0001c0001t0048g0075 a0001c0001t0049g0021 a0001c0001t0066g0090 a0001c0001t0067g0082 a0001c0001t0080g0269 a0001c0001t0082g0081 a0001c0001t0083g0085 a0001c0001t0084g0047 a0001c0001t0086g0051 a0001c0001t0089g0210	44	432	0.1019	-49	c.46 others(60): Show c.4676_*4724delTATATATATATATATATATATATATATATATTTT TTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1330		chr11	TogoVar
PALM_chr19_703935_753329	735132	CTGTGTCT others(42): Show CTGTGTCTGGGGGCCCAGGTGCCTGTGTCCTGGTGTCTGGGTGGGGTCTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(99): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02074.hp2 HG02083.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02895.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18980.hp2 NA18997.hp1 NA19003.hp2 NA19005.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19068.hp1 NA19087.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(4): Show a0001c0002 a0001c0003 a0002c0001 a0002c0005 a0002c0006 a0002c0007 a0002c0008	a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 others(19): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0015 a0001c0002t0027 a0001c0003t0001 a0001c0003t0006 a0001c0003t0007 a0001c0003t0016 a0001c0003t0032 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0005 a0002c0001t0007 a0002c0005t0003 a0002c0005t0019 a0002c0006t0001 a0002c0007t0004 a0002c0008t0002	a0001c0002t0002g0006 a0001c0002t0002g0032 a0001c0002t0002g0035 others(95): Show a0001c0002t0002g0006 a0001c0002t0002g0032 a0001c0002t0002g0035 a0001c0002t0002g0224 a0001c0002t0002g0268 a0001c0002t0004g0076 a0001c0002t0004g0197 a0001c0002t0004g0199 a0001c0002t0004g0298 a0001c0002t0007g0020 a0001c0002t0008g0371 a0001c0002t0010g0203 a0001c0002t0015g0242 a0001c0002t0027g0047 a0001c0003t0001g0033 a0001c0003t0001g0267 a0001c0003t0006g0034 a0001c0003t0006g0118 a0001c0003t0006g0374 a0001c0003t0006g0375 a0001c0003t0006g0376 a0001c0003t0007g0272 a0001c0003t0016g0271 a0001c0003t0032g0021 a0002c0001t0001g0137 a0002c0001t0001g0151 a0002c0001t0001g0153 a0002c0001t0001g0169 a0002c0001t0001g0297 a0002c0001t0002g0002 a0002c0001t0002g0008 a0002c0001t0002g0036 a0002c0001t0002g0038 a0002c0001t0002g0041 a0002c0001t0002g0042 a0002c0001t0002g0048 a0002c0001t0002g0057 a0002c0001t0002g0061 a0002c0001t0002g0063 a0002c0001t0002g0064 a0002c0001t0002g0066 a0002c0001t0002g0081 a0002c0001t0002g0082 a0002c0001t0002g0084 a0002c0001t0002g0148 a0002c0001t0002g0156 a0002c0001t0002g0160 a0002c0001t0002g0161 a0002c0001t0002g0162 a0002c0001t0002g0168 a0002c0001t0002g0170 a0002c0001t0002g0171 a0002c0001t0002g0174 a0002c0001t0002g0175 a0002c0001t0002g0177 a0002c0001t0002g0178 a0002c0001t0002g0179 a0002c0001t0002g0207 a0002c0001t0002g0208 a0002c0001t0002g0209 a0002c0001t0002g0210 a0002c0001t0002g0212 a0002c0001t0002g0226 a0002c0001t0002g0227 a0002c0001t0002g0229 a0002c0001t0002g0230 a0002c0001t0002g0231 a0002c0001t0002g0240 a0002c0001t0002g0285 a0002c0001t0002g0323 a0002c0001t0002g0327 a0002c0001t0002g0341 a0002c0001t0002g0343 a0002c0001t0002g0366 a0002c0001t0002g0384 a0002c0001t0004g0338 a0002c0001t0004g0339 a0002c0001t0005g0089 a0002c0001t0007g0273 a0002c0001t0007g0276 a0002c0005t0003g0077 a0002c0005t0003g0181 a0002c0005t0003g0244 a0002c0005t0003g0288 a0002c0005t0003g0344 a0002c0005t0019g0176 a0002c0006t0001g0173 a0002c0006t0001g0206 a0002c0007t0004g0073 a0002c0007t0004g0146 a0002c0007t0004g0159 a0002c0007t0004g0163 a0002c0007t0004g0196 a0002c0007t0004g0228 a0002c0008t0002g0040 a0002c0008t0002g0067 a0002c0008t0002g0172 a0002c0008t0002g0307	102	404	0.2525	-49	c.443 others(64): Show c.443-810_443-762delCCTGGTGTCTGGGTGGGGTCTGTGTGTCTG GGGGCCCAGGTGCCTGTGT	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAM_chr5_102750305_103034716	102988607	AGGGAGGA others(42): Show AGGGAGGAAAGGAAAGGAAAGGGAAAAAAAAGAAGGAAAGGAAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02257.hp2 HG02572.hp2 others(8): Show HG00738.hp1 HG02257.hp2 HG02572.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02976.hp2 HG03139.hp1 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0184 a0001c0001t0002g0022 a0001c0001t0002g0024 others(8): Show a0001c0001t0001g0184 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0056 a0001c0001t0002g0092 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0002t0002g0027 a0001c0002t0002g0045 a0001c0002t0002g0047	11	188	0.0585	-49	c.148 others(68): Show c.1484-1638_1484-1590delAAAAGAAGGAAAGGAAAGGGAAGGGG AGGAAAGGAAAGGAAAGGGAAAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	15/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAPPA_chr9_116148791_116407321	116289137	TATATATA others(42): Show TATATATATATATATATATATATAGCATATATATATAGCATATATGTAGC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02976.hp1 NA18986.hp1 others(1): Show HG01496.hp1 HG02976.hp1 NA18986.hp1 NA19064.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0002c0004 a0003c0007 a0002c0003 a0002c0004 a0003c0007	a0002c0003t0048 a0002c0004t0007 a0002c0004t0009 others(1): Show a0002c0003t0048 a0002c0004t0007 a0002c0004t0009 a0003c0007t0008	a0002c0003t0048g0209 a0002c0004t0007g0113 a0002c0004t0009g0160 others(1): Show a0002c0003t0048g0209 a0002c0004t0007g0113 a0002c0004t0009g0160 a0003c0007t0008g0133	4	234	0.0171	-49	c.295 others(70): Show c.2954-13610_2954-13562delTATATATATATATAGCATATATAT ATAGCATATATGTAGCATATATATA	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAQR5_chr15_69293912_69412780	69300618	TTTCTTTC others(42): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp1 HG02145.hp2 others(3): Show HG00639.hp1 HG01069.hp1 HG02145.hp2 HG02809.hp2 HG02976.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0019 a0001c0001t0001 a0001c0001t0017 a0001c0001t0019	a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 others(3): Show a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0017g0053 a0001c0001t0019g0039	6	284	0.0211	-49	c.-27 others(68): Show c.-277+1571_-277+1619delTTCTTTCTTTCTTTCTTTCTTTCTTT TCTTTCTTTCTTTCATTCTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAWR_chr12_79579879_79695964	79613951	ATATATAT others(42): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0167 a0003c0004t0007g0167	1	256	0.0039	-49	c.649 others(64): Show c.649-391_649-343delAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PBX3_chr9_125742373_125972377	125780171	GCGGCTGG others(42): Show GCGGCTGGCCGGGCGAGGTGCTGATCCCCCCACCTCCCTCCCGGACGGGT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00609.hp1 others(31): Show HG00408.hp2 HG00544.hp1 HG00609.hp1 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02129.hp1 HG02735.hp2 HG04228.hp2 NA18939.hp1 NA18956.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18968.hp2 NA18979.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19003.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19057.hp2 NA19066.hp1 NA19079.hp1 NA19085.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0014	a0001c0002t0003g0142 a0001c0002t0004g0118 a0001c0002t0004g0135 others(31): Show a0001c0002t0003g0142 a0001c0002t0004g0118 a0001c0002t0004g0135 a0001c0002t0004g0136 a0001c0002t0004g0137 a0001c0002t0004g0138 a0001c0002t0004g0139 a0001c0002t0004g0140 a0001c0002t0004g0141 a0001c0002t0004g0143 a0001c0002t0004g0144 a0001c0002t0004g0145 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0157 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0161 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0164 a0001c0002t0004g0165 a0001c0002t0004g0166 a0001c0002t0013g0134 a0001c0002t0014g0151	34	294	0.1157	-49	c.274 others(68): Show c.274+31563_274+31611delAGGTGCTGATCCCCCCACCTCCCTCC CGGACGGGTCGGCTGGCCGGGCG	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45746720	GTTGTGTC others(42): Show GTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	292	0.0034	-49	c.-16 others(68): Show c.-161-8696_-161-8648delTTGTGTCAGCATCGCCGTGTCAGTCC ACTGACGTAGCGCACACGGTGTT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45918733	TGGAGGAA others(42): Show TGGAGGAAGAAGTTACTCTCAGATAAACGGTCGGTGTAATTCCAGTGCTG	T T	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	292	0.0034	-49	c.717 others(66): Show c.717+1107_717+1155delAGGAAGAAGTTACTCTCAGATAAACGGT CGGTGTAATTCCAGTGCTGGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH11X_chrX_91774375_92628230	92027920	AGCATTTA others(42): Show AGCATTTATAGGCTTTCTCCATTTGACTTTATTTTCTTTCTTTCAATTTG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG03453.hp1 HG02630.hp1 HG02809.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0003t0012 a0001c0001t0002 a0001c0001t0005 a0001c0003t0012	a0001c0001t0002g0048 a0001c0001t0005g0050 a0001c0003t0012g0144 a0001c0001t0002g0048 a0001c0001t0005g0050 a0001c0003t0012g0144	3	154	0.0195	-49	c.303 others(72): Show c.3033+148648_3033+148696delGCATTTATAGGCTTTCTCCATT TGACTTTATTTTCTTTCTTTCAATTTG	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10			chrX	TogoVar

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