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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
METTL16_chr17_2411049_2516888	2447502	TCCTCTGC others(121): Show TCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGC CAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCAGTCCGGGAGGTGAGGGGCG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01167.hp2 others(19): Show HG00735.hp2 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG02071.hp2 HG02735.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 NA18955.hp1 NA18960.hp2 NA18977.hp1 NA18989.hp1 NA19004.hp2 NA19007.hp2 NA19056.hp2 NA19077.hp1 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0061 a0001c0001t0078 a0001c0001t0088	a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 others(19): Show a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0131 a0001c0001t0004g0025 a0001c0001t0005g0079 a0001c0001t0005g0083 a0001c0001t0005g0085 a0001c0001t0005g0107 a0001c0001t0005g0150 a0001c0001t0007g0093 a0001c0001t0007g0099 a0001c0001t0008g0101 a0001c0001t0008g0283 a0001c0001t0015g0246 a0001c0001t0061g0088 a0001c0001t0078g0234 a0001c0001t0088g0291	22	298	0.0738	-128	c.729 others(17): Show c.729-6071_729-5944del		METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	6/9						chr17	TogoVar
METTL27_chr7_73829590_73847516	73836530	TGGGGGGG others(121): Show TGGGGGGGTCAGCCCCCTGCCCGGCCAGCCCCCCCATCCGGGAAGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAGGTGGGGAGCCCCTCTGCCT GGCCAGCCGCCCCGTCCGGGAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02109.hp1 HG02486.hp2 others(1): Show HG00735.hp2 HG02109.hp1 HG02486.hp2 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0059 a0002c0002t0001g0073 a0002c0002t0001g0036 a0002c0002t0001g0059 a0002c0002t0001g0073	4	372	0.0108	-128	c.479 others(17): Show c.479-1656_479-1529del		METTL27	ENSG00000165171.11	transcript	ENST00000297873.9	protein_coding	5/5						chr7	TogoVar
MKLN1_chr7_131322876_131501632	131405179	TTGCAGGA others(121): Show TTGCAGGATTTCTTGAGATGCCCCTTTTTTGTTACTTATCTTGAATATAT ATATATTTTTCCATCAGCACATGTTTATCAAGTGCACTAGTCTCTTGAGA GAACCAATTTTTGGTTTGTTCATCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03139.hp1 HG03688.hp1 others(1): Show HG03017.hp1 HG03139.hp1 HG03688.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0045 a0001c0001t0002 a0001c0002t0045	a0001c0001t0002g0230 a0001c0001t0002g0250 a0001c0001t0002g0253 others(1): Show a0001c0001t0002g0230 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0002t0045g0143	4	320	0.0125	-128	c.703 others(17): Show c.703+5877_704-5869del		MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
MKNK2_chr19_2032471_2056244	2033041	CAGGCTGG others(121): Show CAGGCTGGGTACTCTGAGCCTTGAACTCCTGGGCTCATGCAATCCTCCCA CCTCAGCCTTCCAAAGTATTGAGATTACAGGTGTGGGCCACTGTACCCAG ACTAAATAAAATAATAATAATTATTATTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00735.hp1 others(49): Show HG00099.hp1 HG00323.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01346.hp1 HG01358.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18969.hp1 NA19081.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(14): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0038 a0001c0001t0049 a0001c0001t0058 a0001c0001t0067 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0009t0005	a0001c0001t0002g0044 a0001c0001t0002g0158 a0001c0001t0005g0007 others(29): Show a0001c0001t0002g0044 a0001c0001t0002g0158 a0001c0001t0005g0007 a0001c0001t0005g0009 a0001c0001t0005g0025 a0001c0001t0005g0147 a0001c0001t0005g0165 a0001c0001t0007g0012 a0001c0001t0007g0155 a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0009g0018 a0001c0001t0009g0030 a0001c0001t0009g0052 a0001c0001t0009g0053 a0001c0001t0009g0054 a0001c0001t0017g0121 a0001c0001t0021g0045 a0001c0001t0021g0142 a0001c0001t0021g0221 a0001c0001t0028g0031 a0001c0001t0029g0032 a0001c0001t0033g0112 a0001c0001t0038g0156 a0001c0001t0038g0162 a0001c0001t0049g0082 a0001c0001t0058g0159 a0001c0001t0067g0153 a0001c0001t0074g0148 a0001c0001t0075g0154 a0001c0001t0076g0157 a0001c0009t0005g0164	52	418	0.1244	-128	c.64 others(11): Show c.6444_*6571del		MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding					4429		chr19	TogoVar
MLLT1_chr19_6205381_6284975	6265591	ACCTGGGA others(121): Show ACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCA GCCTGGGCAACAAGAGTGAAACTCTGTTTCAACAACAACAACAAAAGTTT TGGATCTTGGCCAGGTGCAATGGCTCATG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	286	0.0035	-128	c.194 others(17): Show c.194-3409_194-3282del		MLLT1	ENSG00000130382.9	transcript	ENST00000252674.9	protein_coding	2/11						chr19	TogoVar
MROH2A_chr2_233773330_233838418	233787700	CATATAAA others(121): Show CATATAAACATATATATTATATATATCATATATACATATATATTATATAT ATTATATATATCATATATACATATATATTATATATATCATATATAATATA TATTATATATATTATATATAATATATATT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00673.hp2 others(17): Show HG00558.hp1 HG00642.hp1 HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01167.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG01943.hp1 HG02080.hp1 HG03654.hp2 HG03704.hp1 HG04199.hp2 NA18952.hp1 NA18955.hp2 NA18970.hp1 NA20752.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0012 a0014 a0041	a0001c0001 a0001c0035 a0002c0020 others(8): Show a0001c0001 a0001c0035 a0002c0020 a0003c0002 a0005c0006 a0005c0012 a0007c0071 a0012c0029 a0012c0046 a0014c0090 a0041c0045	a0001c0001t0001 a0001c0035t0001 a0002c0020t0001 others(8): Show a0001c0001t0001 a0001c0035t0001 a0002c0020t0001 a0003c0002t0001 a0005c0006t0001 a0005c0012t0001 a0007c0071t0001 a0012c0029t0001 a0012c0046t0001 a0014c0090t0001 a0041c0045t0001	a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0338 others(17): Show a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0338 a0001c0035t0001g0368 a0002c0020t0001g0342 a0002c0020t0001g0343 a0002c0020t0001g0355 a0003c0002t0001g0320 a0003c0002t0001g0367 a0005c0006t0001g0337 a0005c0012t0001g0304 a0007c0071t0001g0351 a0012c0029t0001g0345 a0012c0029t0001g0346 a0012c0029t0001g0352 a0012c0046t0001g0340 a0012c0046t0001g0341 a0014c0090t0001g0353 a0041c0045t0001g0318 a0041c0045t0001g0319	20	378	0.0529	-128	c.277 others(17): Show c.277-1791_277-1664del		MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH4_chr1_75791882_75918242	75885990	TTATATAG others(121): Show TTATATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGT ATATATGATGTATTATATATAGCATGTATAGTATATATGATGTATTATAT ATAGCATGTATAGTATATATGATGTATTA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01175.hp1 HG04184.hp1 others(1): Show HG00323.hp2 HG01175.hp1 HG04184.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0012 a0001c0004t0001g0013 a0001c0004t0001g0064 others(1): Show a0001c0004t0001g0012 a0001c0004t0001g0013 a0001c0004t0001g0064 a0001c0004t0001g0069	4	332	0.0121	-128	c.210 others(19): Show c.2107+2399_2107+2526del		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350795	CTGGACCG others(121): Show CTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	338	0.0030	-128	c.26 others(11): Show c.2681_*2808del		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding					1895		chr1	TogoVar
NCR2_chr6_41330608_41355889	41349983	AGTTTGCC others(121): Show AGTTTGCCTGGAAATCCTAGCTGTACAACCCAGCTCATGAGGGACATTTT CTACTTTCCACATTACTGCAGATGACAGTGTTGCTAAACTTTCTGCCATT GTGTAACAAAGAACCCCCTTCCTTTTTAC	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	438	0.0023	-128	c.645 others(15): Show c.645-694_645-567del		NCR2	ENSG00000096264.14	transcript	ENST00000373089.10	protein_coding	4/4						chr6	TogoVar
NDST4_chr4_114822763_115118620	115021461	GTACACAC others(121): Show GTACACACGTTCCACATATACACATTCCATATATACACACGTTCCACATA TACACATTCCATATATACACACGTTCCACATATACACATTCCATATATAC ACACGTTCCACATATACACATTCCATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01192.hp1 others(12): Show HG00639.hp2 HG00738.hp2 HG01192.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02559.hp2 HG02818.hp2 HG02886.hp2 NA18522.hp1 NA18955.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0048 a0001c0001t0001g0079 a0001c0001t0001g0110 others(12): Show a0001c0001t0001g0048 a0001c0001t0001g0079 a0001c0001t0001g0110 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0002t0001g0023 a0001c0002t0001g0081 a0001c0002t0001g0111 a0001c0002t0001g0149 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0167 a0001c0002t0001g0173 a0001c0003t0001g0109 a0001c0003t0001g0184	15	190	0.0790	-128	c.979 others(19): Show c.979-44315_979-44188del		NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	2/13						chr4	TogoVar
NDST4_chr4_114822763_115118620	115021560	CACACGTT others(121): Show CACACGTTCCACATATACACATTCCATATATACACACGTTCCACATATAC ACATTCCATATATACACACGTTCCACATATACACATTCCATATATACACA CGTTCCACATATACACATTCCATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp2 HG00140.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0187 a0001c0001t0001g0014 a0001c0001t0001g0187	2	190	0.0105	-128	c.979 others(19): Show c.979-44414_979-44287del		NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	2/13						chr4	TogoVar
NDUFA5_chr7_123531997_123562818	123558210	AGCATCCT others(121): Show AGCATCCTCTGAATTGATCTCTCAACAGCAAGTTAGTTCTTCGCACAAGG ATATCAGTATTCTCTGTGTCTTACGAACCAAAGCCCTATGGAGTGTGAGG TCATTTTCCATCGCTCTTTTCGATTTCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0246 a0001c0001t0014g0246	1	414	0.0024	-128	c.-54 others(9): Show c.-543_-416del		NDUFA5	ENSG00000128609.16	transcript	ENST00000355749.7	protein_coding					393		chr7	TogoVar
NDUFAF1_chr15_41382353_41407496	41383199	CGCCCGGC others(121): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCT GCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01257.hp1 others(15): Show HG01081.hp1 HG01106.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp1 HG01517.hp2 HG02572.hp1 HG02615.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA19043.hp1 NA20905.hp1 NA21309.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0007c0009 a0009c0010 a0001c0001 a0007c0009 a0009c0010	a0001c0001t0002 a0007c0009t0001 a0009c0010t0004 a0001c0001t0002 a0007c0009t0001 a0009c0010t0004	a0001c0001t0002g0028 a0001c0001t0002g0288 a0001c0001t0002g0289 others(14): Show a0001c0001t0002g0028 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0007c0009t0001g0172 a0009c0010t0004g0029	18	354	0.0509	-128	c.41 others(11): Show c.4117_*4244del		NDUFAF1	ENSG00000137806.10	transcript	ENST00000260361.9	protein_coding					4153		chr15	TogoVar
NLRP8_chr19_55942832_55993629	55993484	CCCCTCTC others(121): Show CCCCTCTCCCCCCTCCCCTCCTCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCTCCCCTCCTCT CCTCCCCCCTCCTCCTCTCAACCTCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0020 a0000c0003t0020	a0000c0003t0020g0106 a0000c0003t0020g0106	1	350	0.0029	-128	c.55 others(11): Show c.5572_*5699del		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4856		chr19	TogoVar
NOP14_chr4_2932936_2968406	2945903	GCTGCCGT others(121): Show GCTGCCGTGCACTCTCACTCCAGATCACCCTCACTGCCGTGCACTCTCAC TCCAGATCACCCTCACTGCCGTGCACTCTCACTCCAGATCACCCTCACTG CCGTGCACTCTCACTCCAGATCACCCTCA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02148.hp2 NA19000.hp1 HG01928.hp1 HG02148.hp2 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0265 a0002c0002t0001g0272 a0002c0002t0002g0283 a0002c0002t0001g0265 a0002c0002t0001g0272 a0002c0002t0002g0283	3	422	0.0071	-128	c.163 others(17): Show c.1635+381_1635+508del		NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	11/17						chr4	TogoVar
NPIPB13_chr16_30217897_30253479	30224884	GGAGTGAG others(121): Show GGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGG TGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTG CTGAGGGTGGAGCTGAGGGTGGAAGGGGA	G G	frameshift_variant frameshift_variant	HIGH	NA18992.hp1 NA18992.hp1	a0051 a0051	a0051c0051 a0051c0051	a0051c0051t0003 a0051c0051t0003	a0051c0051t0003g0096 a0051c0051t0003g0096	1	145	0.0069	-128	c.143 others(9): Show c.1434_1561del	p.Leu others(5): Show p.Leu480fs	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	4304/6292	1434/3417	478/1138			chr16	TogoVar
NPRL3_chr16_80386_143673	138403	GAGGGCAG others(121): Show GAGGGCAGGGGTGGAGGCGGAGGGGGCCTGAGGAGGGCAGGGGTGGAGGC GGAGGGGGCCTGAGGAGGGCAGGGGTGGAGGCGGAGGGGGCCTGAGGAGG GCAGGGGTGGAGGCGGAGGGGGCCTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	350	0.0029	-128	c.-68 others(14): Show c.-68+111_-67-70del		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	1/13						chr16	TogoVar
NRAP_chr10_113583714_113669041	113653022	ATAGTCTT others(121): Show ATAGTCTTCTGTATATTCCTGTTGGTCAGAACCAATGTCAGCATGAGAAC TGAGATGATATTGAATGACAACTAAGAAAACCGCAATAAAACCAATGAAA CTAGATTCATAAAGTTCTTCGGAAATATT	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01891.hp2 HG02451.hp2 HG03471.hp2 others(2): Show HG01891.hp2 HG02451.hp2 HG03471.hp2 HG03516.hp2 NA19043.hp1	a0021 a0021	a0021c0071 a0021c0072 a0021c0073 others(2): Show a0021c0071 a0021c0072 a0021c0073 a0021c0114 a0021c0115	a0021c0071t0002 a0021c0072t0001 a0021c0073t0001 others(2): Show a0021c0071t0002 a0021c0072t0001 a0021c0073t0001 a0021c0114t0004 a0021c0115t0004	a0021c0071t0002g0269 a0021c0072t0001g0271 a0021c0073t0001g0270 others(2): Show a0021c0071t0002g0269 a0021c0072t0001g0271 a0021c0073t0001g0270 a0021c0114t0004g0273 a0021c0115t0004g0274	5	398	0.0126	-128	c.466 others(11): Show c.466-111_482del	p.Glu others(5): Show p.Glu156fs	NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	6/42	641/5613	466/5193	156/1730			chr10	TogoVar
NT5C1B_chr2_18557871_18594569	18571666	AAAGTGCA others(121): Show AAAGTGCAAGGGAATCAGACTGTACTCTCTCTCTCTTTCTCTCTGTGTGT GTGTATATATATATATATATATATATATATATATATATATATATATATAT GTTAATTTTAACAAAGTTGAAGTATTCAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp2 HG01496.hp1 others(6): Show HG01243.hp1 HG01261.hp2 HG01496.hp1 HG02055.hp2 HG02257.hp1 HG02886.hp2 HG02922.hp1 HG03486.hp2 HG03516.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0014 a0003c0004t0002g0049 a0003c0004t0002g0247 others(2): Show a0003c0004t0002g0014 a0003c0004t0002g0049 a0003c0004t0002g0247 a0003c0004t0002g0248 a0003c0004t0002g0249	9	392	0.0230	-128	c.132 others(19): Show c.1329+4390_1329+4517del		NT5C1B	ENSG00000185013.17	transcript	ENST00000304081.9	protein_coding	8/8						chr2	TogoVar
NUSAP1_chr15_41327881_41386046	41383199	CGCCCGGC others(121): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCT GCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG01257.hp2 others(14): Show HG01081.hp2 HG01106.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG02572.hp2 HG02615.hp1 HG02976.hp2 HG03041.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA19043.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0002c0006	a0001c0001t0003 a0002c0002t0003 a0002c0005t0003 others(1): Show a0001c0001t0003 a0002c0002t0003 a0002c0005t0003 a0002c0006t0003	a0001c0001t0003g0098 a0002c0002t0003g0008 a0002c0002t0003g0014 others(13): Show a0001c0001t0003g0098 a0002c0002t0003g0008 a0002c0002t0003g0014 a0002c0002t0003g0187 a0002c0002t0003g0188 a0002c0002t0003g0189 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0196 a0002c0002t0003g0199 a0002c0005t0003g0197 a0002c0005t0003g0198 a0002c0006t0003g0192	17	292	0.0582	-128	c.30 others(11): Show c.3014_*3141del		NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding					2154		chr15	TogoVar
OBP2A_chr9_135541126_135554969	135548977	ACTCTGGG others(121): Show ACTCTGGGCTGCGATGCGGTCTGGGGCTCCGCGCTCTGGGCTGCGATGGG GTCTGGGGCTCCGCGCTCTGGGCTGCGATGGGGTCTGGGGCTCCGCGCTC TGGGCTGCGATGGGGTCTGGGGCTCCGCG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01175.hp2 others(26): Show HG00735.hp2 HG00741.hp2 HG01175.hp2 HG01928.hp2 HG01978.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp2 NA18941.hp2 NA18942.hp1 NA18947.hp1 NA18955.hp1 NA18963.hp2 NA18970.hp2 NA18975.hp1 NA18980.hp2 NA18985.hp1 NA19000.hp2 NA19004.hp1 NA19055.hp2 NA19077.hp2 NA20129.hp2 NA20300.hp2	a0002 a0005 a0010 a0002 a0005 a0010	a0002c0002 a0005c0006 a0010c0012 a0002c0002 a0005c0006 a0010c0012	a0002c0002t0002 a0005c0006t0002 a0010c0012t0002 a0002c0002t0002 a0005c0006t0002 a0010c0012t0002	a0002c0002t0002g0005 a0002c0002t0002g0021 a0002c0002t0002g0026 others(14): Show a0002c0002t0002g0005 a0002c0002t0002g0021 a0002c0002t0002g0026 a0002c0002t0002g0047 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0069 a0002c0002t0002g0102 a0005c0006t0002g0037 a0005c0006t0002g0066 a0005c0006t0002g0119 a0005c0006t0002g0120 a0005c0006t0002g0121 a0010c0012t0002g0032	29	455	0.0637	-128	c.490 others(15): Show c.490+184_491-188del		OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF3L2_chr19_458361_479983	458553	TGGAAGCG others(121): Show TGGAAGCGGGTCCTGGGGAGGCGGAAGCGGGTTCCGGGGGACGGGGAAGT GGGTTCCAGGGAGGCGGACGCGGGTTCCGGGGAGGCGGAAGCCGGTCTTG GGGAGGCGGAAGTGGGTTCCGGGGGAGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0034 a0002c0002t0003g0034	1	324	0.0031	-128	c.51 others(11): Show c.5163_*5290del		ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding					4807		chr19	TogoVar
OPHN1_chrX_68037344_68438495	68325691	TTCCTTAT others(121): Show TTCCTTATCCGTTTCCGTTTTCCTTTTCCTTTTCCGTTTTCCATTTCCTT TTCCATTATCCATATCCTTGTCCGGTGTCCTTTTCCGTGTCCGGTATCCT TCTCCTTTTCCCGTATCCTTGTCCATGTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02109.hp2 HG02280.hp1 HG00735.hp2 HG02109.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0019 a0001c0001t0003g0018 a0001c0001t0004g0005 a0001c0001t0002g0019 a0001c0001t0003g0018 a0001c0001t0004g0005	3	155	0.0194	-128	c.155 others(19): Show c.155-26723_155-26596del		OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24						chrX	TogoVar
OPN3_chr1_241588124_241645369	241623987	TCCACGCC others(121): Show TCCACGCCAGGCCAGGCACTCTATGCTCCAGGCACTGTGGACCCTCTTCC ACCTGTCCTGCCTCTCCATGCCAGGCCAGGCACTCTATGCTCCAGGCACT GTGGACCCTCTTCCACCTGTCCTGCCTCC	T T	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0311 a0001c0001t0004g0311	1	410	0.0024	-128	c.373 others(19): Show c.373+15767_373+15894del		OPN3	ENSG00000054277.14	transcript	ENST00000366554.3	protein_coding	1/3						chr1	TogoVar
OR11L1_chr1_247835928_247846896	247839295	CAGGGGTG others(121): Show CAGGGGTGAGCTACTGCGCCCGGCCTCACTTTATTATTTCATAGTGATCA TCACAAGTAGAAATAAATCAATCATTGCTTTATGATTTGTTACATTTTTC TCCTCCCTTCTGCATTGGAAGGTCTATTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	394	0.0025	-128	c.15 others(11): Show c.1505_*1632del		OR11L1	ENSG00000197591.3	transcript	ENST00000355784.3	protein_coding					1632		chr1	TogoVar
OR3A2_chr17_3271177_3391308	3371618	GCTCCTCA others(121): Show GCTCCTCACTTCCCAGTAGGGGAGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGTGCTGACCCCCCCACCTCCCTCC CGGACGGGGCAGCTGGCCGGGCAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0068 a0001c0005t0002g0068	1	318	0.0031	-128	c.-37 others(21): Show c.-377+14379_-377+14506del		OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	1/4						chr17	TogoVar
ORC4_chr2_147925396_148025737	147995118	CTGTAAAT others(121): Show CTGTAAATGCACCAATCAGCACTCTGTAAAAATGCACCACTCAGCATTCT GTGTCTAGCTAAAGGATTGTAAATGCACCAATCAGCACTCTATAAAAACG CACCAATCAGCACTCTGTGTCTAAAGTAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0039 a0002c0002t0034g0039	1	336	0.0030	-128	c.-17 others(19): Show c.-17-19271_-17-19144del		ORC4	ENSG00000115947.14	transcript	ENST00000392857.10	protein_coding	1/13						chr2	TogoVar
OSBPL2_chr20_62233521_62301183	62270699	CCCTCTCT others(121): Show CCCTCTCTGGCCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGGCCTCTCTG GGTCCTCTCCTTGTCCCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGGCCT CTCTGGGTCCTCTCCTTGTCCCTCTCTGG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01070.hp2 others(40): Show HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01175.hp1 HG01358.hp2 HG01496.hp2 HG01891.hp1 HG01975.hp2 HG01993.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02145.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 NA18966.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0002c0003	a0001c0001t0003 a0001c0001t0006 a0001c0006t0003 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0006t0003 a0001c0007t0003 a0002c0003t0003	a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0006 others(37): Show a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0006g0036 a0001c0001t0006g0043 a0001c0006t0003g0037 a0001c0007t0003g0001 a0002c0003t0003g0030 a0002c0003t0003g0032 a0002c0003t0003g0041	43	348	0.1236	-128	c.259 others(17): Show c.259-1416_259-1289del		OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr20	TogoVar
P2RX5_chr17_3668227_3701155	3685985	CCCAGCCT others(121): Show CCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGG GCCCCCAGGGACCCTCCCAACGTCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	362	0.0028	-128	c.981 others(17): Show c.981+1899_981+2026del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PCBP3_chr21_45638725_45947450	45815595	AGTGATGA others(121): Show AGTGATGAGTGAGTGGTGAGTAGTGAGTGATGAGTGGTGAGTGGTGAGTG AGTGGTGAGTGGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGGTG AGTGAGTGGTGAGTAGTGAGTGATGAGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp2 HG03453.hp2 others(2): Show HG01891.hp2 HG02965.hp2 HG03453.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0209 a0001c0001t0002g0217 a0001c0001t0002g0218 others(2): Show a0001c0001t0002g0209 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0022g0216	5	292	0.0171	-128	c.-12 others(21): Show c.-125-34361_-125-34234del		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	717065	CCCTGTAG others(121): Show CCCTGTAGACACTGAGTGTGAGAACTGAGCGTCGGTGCTGGGACCCTGTA GACACTGAATGTGAGAACTGAGCGTCGGTGCTGGGACCCTGTAGACACTG AATGTGAGAACTGGGCGTCGGTGCTGGGA	C C	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0142 a0001c0003t0005g0142	1	366	0.0027	-128	c.-19 others(21): Show c.-190+11098_-190+11225del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE3B_chr11_14638804_14877044	14845123	TACTCCTC others(121): Show TACTCCTCCGAGACAAAACTTCCAGAGGAACGATCAGACAGCAGCGTTCA CGGTTCACGAAAATCTGCTGTTCTGCAGCCACCGCTGCTGGTACCCAGGC AAACAGGGTCTGGAGTGCACCTCTAGCAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03098.hp1 HG03225.hp1 others(2): Show HG02647.hp2 HG03098.hp1 HG03225.hp1 HG03486.hp2 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0004 a0001c0008 a0007c0009 a0001c0004 a0001c0008 a0007c0009	a0001c0004t0002 a0001c0004t0005 a0001c0008t0002 others(1): Show a0001c0004t0002 a0001c0004t0005 a0001c0008t0002 a0007c0009t0005	a0001c0004t0002g0182 a0001c0004t0005g0330 a0001c0004t0005g0331 others(2): Show a0001c0004t0002g0182 a0001c0004t0005g0330 a0001c0004t0005g0331 a0001c0008t0002g0230 a0007c0009t0005g0329	5	332	0.0151	-128	c.252 others(19): Show c.2520+1103_2520+1230del		PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
PDXK_chr21_43714129_43767299	43741164	CGGGGGGG others(121): Show CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGGCTCGCGGGGGGGCTCGCG	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	358	0.0028	-128	c.143 others(15): Show c.143-496_143-369del		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741267	CGGGGGGG others(121): Show CGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTGGCGGGGGGCTGGCGGGGGGCTCGCG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18941.hp2 HG03516.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0046 a0001c0001t0037 a0001c0001t0046	a0001c0001t0037g0336 a0001c0001t0046g0027 a0001c0001t0037g0336 a0001c0001t0046g0027	2	358	0.0056	-128	c.143 others(15): Show c.143-393_143-266del		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PID1_chr2_229018973_229276287	229184528	ATATATAT others(121): Show ATATATATATATATCCCGTATATATATATCCCGTATATATATATATCCCG TATATATATATCCCGTATATATATATATCCCGTATATATATATCCCGTAT ATATATATATCCCGTATATATATATCCCG	A A	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	256	0.0039	-128	c.31- others(17): Show c.31-28692_31-28565del		PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2						chr2	TogoVar
PIGP_chr21_37060374_37078071	37075657	CTTGGCTT others(121): Show CTTGGCTTCTCTTGTAGCCCTGTGTCAGCCTATGGATTTATCTCTTATAG CTAATTGGCTTAGTCTTTATCTCCTTTGGTTCTCATAAGATTAATTCCAA TGAACATTTGTTGTATACCTAATGTATGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	436	0.0023	-128	c.-28 others(11): Show c.-2808_-2681del		PIGP	ENSG00000185808.14	transcript	ENST00000360525.9	protein_coding					2587		chr21	TogoVar
PINX1_chr8_10759961_10844875	10833578	AGACGACT others(121): Show AGACGACTGGGGTGCGGGAGGCTGGAGAAGAATGACAACTGGGGTGCGGG AGGCTGGAGAAGAATGACGACTGGGGTGCGGGAGGCTGGAGAAGAATGAC GACTGGGGTGCGGGAGGCTGGAGAAGAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(142): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18982.hp1 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19080.hp1 NA19082.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0010 a0011 a0012	a0001c0001 a0001c0004 a0001c0006 others(10): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0001c0021 a0002c0002 a0002c0005 a0002c0012 a0003c0007 a0005c0010 a0010c0018 a0011c0017 a0012c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0004t0001 a0001c0006t0001 a0001c0008t0005 a0001c0021t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0002c0005t0001 a0002c0012t0002 a0003c0007t0002 a0005c0010t0001 a0005c0010t0010 a0010c0018t0002 a0011c0017t0002 a0012c0016t0002	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(133): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0173 a0001c0001t0001g0197 a0001c0001t0002g0327 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0089 a0001c0001t0009g0329 a0001c0004t0001g0002 a0001c0004t0001g0006 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0006t0001g0001 a0001c0006t0001g0086 a0001c0006t0001g0087 a0001c0006t0001g0178 a0001c0008t0005g0184 a0001c0008t0005g0185 a0001c0008t0005g0186 a0001c0021t0005g0103 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0030 a0002c0002t0001g0131 a0002c0002t0001g0153 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0181 a0002c0002t0004g0011 a0002c0002t0004g0175 a0002c0002t0004g0176 a0002c0002t0004g0177 a0002c0002t0004g0179 a0002c0002t0004g0180 a0002c0002t0008g0019 a0002c0005t0001g0005 a0002c0005t0001g0033 a0002c0005t0001g0101 a0002c0005t0001g0102 a0002c0005t0001g0104 a0002c0005t0001g0105 a0002c0005t0001g0106 a0002c0012t0002g0174 a0003c0007t0002g0165 a0003c0007t0002g0166 a0003c0007t0002g0167 a0003c0007t0002g0169 a0003c0007t0002g0170 a0003c0007t0002g0171 a0003c0007t0002g0172 a0005c0010t0001g0037 a0005c0010t0001g0038 a0005c0010t0010g0330 a0010c0018t0002g0162 a0011c0017t0002g0132 a0012c0016t0002g0168	145	352	0.4119	-128	c.130 others(15): Show c.130-722_130-595del		PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	2/6						chr8	TogoVar
PLBD1_chr12_14498661_14572883	14520455	CCTGTTAA others(121): Show CCTGTTAAAAACAACAACAAAAAAAGTAAAACAAGTGACTTCAGCAAGAT GTCTGACTAGAGGTGCCTAACATTCATTTCCCTACAAAAAAAAAGGAACC AAAATGATGAATAAACAACTACATTTTGA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp1 HG03130.hp1 others(1): Show HG02451.hp2 HG02717.hp1 HG03130.hp1 HG03516.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0018 a0001c0001 a0002c0002 a0011c0018	a0001c0001t0001 a0002c0002t0001 a0011c0018t0002 a0001c0001t0001 a0002c0002t0001 a0011c0018t0002	a0001c0001t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0147 others(1): Show a0001c0001t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0147 a0011c0018t0002g0015	4	360	0.0111	-128	c.845 others(17): Show c.845-8872_845-8745del		PLBD1	ENSG00000121316.11	transcript	ENST00000240617.10	protein_coding	6/10						chr12	TogoVar
PLXDC2_chr10_19811432_20294856	20126587	AACACACA others(121): Show AACACACACGTTATATATGTATATATAACACACACGTTATATATGTATAT ATAACACACACGTTATATATGTATATATAACACACGTTATATATGTATAT ATAACACACGTTATATATGTATATATAAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0061 a0001c0001t0045g0061	1	180	0.0056	-128	c.542 others(19): Show c.542-16701_542-16574del		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126594	ACGTTATA others(121): Show ACGTTATATATGTATATATAACACACACGTTATATATGTATATATAACAC ACACGTTATATATGTATATATAACACACGTTATATATGTATATATAACAC ACGTTATATATGTATATATAACACACACG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0126 a0002c0002t0126	a0002c0002t0126g0157 a0002c0002t0126g0157	1	180	0.0056	-128	c.542 others(19): Show c.542-16700_542-16573del		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13						chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126613	AACACACA others(121): Show AACACACACGTTATATATGTATATATAACACACACGTTATATATGTATAT ATAACACACGTTATATATGTATATATAACACACGTTATATATGTATATAT AACACACACGTTATATATGTATATAGAAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02896.hp1 HG02897.hp2 others(4): Show HG01261.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03688.hp1 HG03834.hp1 HG04204.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0011 a0001c0001t0095 a0002c0002t0005 others(3): Show a0001c0001t0011 a0001c0001t0095 a0002c0002t0005 a0002c0002t0022 a0002c0002t0049 a0003c0003t0042	a0001c0001t0011g0145 a0001c0001t0011g0146 a0001c0001t0095g0100 others(4): Show a0001c0001t0011g0145 a0001c0001t0011g0146 a0001c0001t0095g0100 a0002c0002t0005g0040 a0002c0002t0022g0056 a0002c0002t0049g0069 a0003c0003t0042g0022	7	180	0.0389	-128	c.542 others(19): Show c.542-16675_542-16548del		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
POLE_chr12_132618762_132692342	132684290	GAGCTACC others(121): Show GAGCTACCATTGACTGGTTACTATATCACACCGTCCCAGTACTCCACACA GGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCGT CCCAGTACTCCACACAGGCTCTCATTCAC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp1 HG02055.hp1 HG03130.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0003 a0009c0015t0003	a0009c0015t0003g0021 a0009c0015t0003g0022 a0009c0015t0003g0021 a0009c0015t0003g0022	2	292	0.0069	-128	c.62+ others(15): Show c.62+2836_62+2963del		POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	1/48						chr12	TogoVar
POU6F1_chr12_51181936_51223062	51197043	TGTCTACC others(121): Show TGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGG TTTCCAGGGCTAGGGGTCTACCTGCTGGATGGTTTCCAGGGCTAGGGGTC TACCGGCTGGATGGTTTCCAGGGCTAGGG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18963.hp1 NA18967.hp2 others(2): Show HG02647.hp1 NA18963.hp1 NA18967.hp2 NA19087.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0054 a0001c0001t0060	a0001c0001t0001g0328 a0001c0001t0004g0219 a0001c0001t0006g0332 others(2): Show a0001c0001t0001g0328 a0001c0001t0004g0219 a0001c0001t0006g0332 a0001c0001t0054g0107 a0001c0001t0060g0302	5	440	0.0114	-128	c.847 others(15): Show c.847-244_847-117del		POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding	6/10						chr12	TogoVar
PRDM15_chr21_41793225_41884344	41806549	TCACCACC others(121): Show TCACCACCATCACCATCACCATACCACCACCATCACCACCACCACCATTA CTACCACCACCATCATCACCACCATCATCACCACCACCACCATCACCACC ACCATCACCACCACCACCATCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	406	0.0025	-128	c.265 others(19): Show c.2653-2063_2653-1936del		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
PRKD1_chr14_29571479_29932847	29826345	CATATATA others(121): Show CATATATATGATGGAATATATATATACATATATATGATGGAATATATATA TACATATATATGATGGAATATATATATACATATATGATGGAATATATATA TACATATATATGATGGAATATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	156	0.0064	-128	c.264 others(21): Show c.264+100776_265-100672del		PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17						chr14	TogoVar
PRKD1_chr14_29571479_29932847	29826364	ATATATAC others(121): Show ATATATACATATATATGATGGAATATATATATACATATATATGATGGAAT ATATATATACATATATGATGGAATATATATATACATATATATGATGGAAT ATATATACATATATATGATGGAATATATG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0138 a0001c0003t0003g0138	1	156	0.0064	-128	c.264 others(21): Show c.264+100757_265-100691del		PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17						chr14	TogoVar
PRLH_chr2_237561574_237572175	237565469	TCACACAC others(121): Show TCACACACATCTACACACGTACACACACACATCTACACACACATCTACAC ACATACACATCTACACACATACATACACACATCTACACACATACACTCAC ACACCTACACTCATACACACATACACTCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	404	0.0025	-128	c.-11 others(10): Show c.-1104_-977del		PRLH	ENSG00000071677.1	transcript	ENST00000165524.1	protein_coding					1104		chr2	TogoVar
PSMD9_chr12_121883790_121923297	121897492	GAACTCCT others(121): Show GAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCGACAGGCGTGAG CCACCATGCCTGGCCTAATTTTTTAGTAGTATTTTTTTAGTAGAGACGGG ATTTCACCATGTTGGCCAGGCTGGTCTCC	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG01243.hp1 others(10): Show HG01099.hp2 HG01109.hp2 HG01243.hp1 HG02257.hp1 HG02280.hp1 HG02572.hp2 HG02809.hp2 HG02895.hp2 HG02970.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp1 NA19030.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0006 a0004c0004t0001 a0004c0004t0006	a0004c0004t0001g0039 a0004c0004t0006g0011 a0004c0004t0006g0033 others(9): Show a0004c0004t0001g0039 a0004c0004t0006g0011 a0004c0004t0006g0033 a0004c0004t0006g0034 a0004c0004t0006g0035 a0004c0004t0006g0036 a0004c0004t0006g0037 a0004c0004t0006g0038 a0004c0004t0006g0040 a0004c0004t0006g0041 a0004c0004t0006g0042 a0004c0004t0006g0043	13	398	0.0327	-128	c.242 others(17): Show c.242-2014_242-1887del		PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
PTDSS2_chr11_445279_496399	468941	AGAGGGGA others(121): Show AGAGGGGAGTCTCTGGGTAATCGGAGGGAGGAGGAGGGGAGTCTCTGGGT AATCGGAAGGAGGAGGAGGGGAGTCTCTGGGTAATCGGAAGGAGGAGGAG GGCAGTCTCTGGGTAATCAGAGGGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02004.hp2 HG03017.hp2 others(4): Show HG01496.hp2 HG02004.hp2 HG03017.hp2 HG03540.hp1 HG04228.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0206 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0206 a0001c0001t0001g0262 a0001c0001t0006g0023	7	346	0.0202	-128	c.285 others(17): Show c.285-4869_285-4742del		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	469026	CGGAAGGA others(121): Show CGGAAGGAGGAGGAGGGCAGTCTCTGGGTAATCAGAGGGAGGAGGAGGGG AGTCTCTGGGTAATCGGAGGGAGGAGGAGGGGAGTCTCTGGGTAATCGGA AGGAGGAGGAGGGGAGTCTCTGGGTAATT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	346	0.0029	-128	c.285 others(17): Show c.285-4801_285-4674del		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr11	TogoVar

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