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
MARK1_chr1_220523136_220669461	220576004	T T	TCTCCCTC others(299): Show TCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCTTCCCCACTCCCCCCTTTC CCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTTC CCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCCCTCCTT CCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCTACTTCTCT CCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCCTCTTCCTT CCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCTTTCCTTCC TTCCTTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0235 a0001c0001t0009g0235	1	298	0.0034	306	c.52- others(321): Show c.52-3337_52-3336insCCTCCCTCCCTCCCTCCTTCCCCACTCCCC CCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCC TCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCC CTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCTAC TTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCCTC TTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCTTT CCTTCCTTCCTTCCTCCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MARK1_chr1_220523136_220669461	220576007	C C	CCCTCCCT others(299): Show CCCTCCCTCCCCCTCCCTCCCTCCCTCCTTCCCCCCTCCCCCCTTTCCCC CTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTTCCCT CCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCT TCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCTACTTCTC TCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCCTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCTTTCCTTC CTTCCTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19043.hp2 NA19030.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0008 a0002c0002t0001g0009	2	298	0.0067	306	c.52- others(321): Show c.52-3337_52-3336insCCTCCCTCCCTCCCTCCTTCCCCCCTCCCC CCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCC TCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTC CTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTC CCTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTT CTTTCCTTCCTTCCTTCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MBP_chr18_76973833_77137783	77044931	G G	GCCGGGCG others(299): Show GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	396	0.0025	306	c.139 others(325): Show c.139+21366_139+21367insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGGCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MCTP2_chr15_94226561_94488952	94276661	T T	TAAGAAAT others(299): Show TAAGAAATATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGACCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18999.hp2 NA18983.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0005t0009 a0001c0002t0003 a0001c0005t0009	a0001c0002t0003g0164 a0001c0005t0009g0060 a0001c0002t0003g0164 a0001c0005t0009g0060	2	276	0.0073	306	c.-65 others(325): Show c.-65-21527_-65-21526insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGACCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAGAAATATTTGG	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94276661	T T	TAAGAAAT others(299): Show TAAGAAATATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0058 a0001c0001t0011g0058	1	276	0.0036	306	c.-65 others(325): Show c.-65-21527_-65-21526insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAGAAATATTTGG	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94276661	T T	TAAGAAAT others(299): Show TAAGAAATATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00735.hp2 others(63): Show HG00099.hp1 HG00621.hp1 HG00735.hp2 HG01081.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18947.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18983.hp2 NA18989.hp2 NA18995.hp1 NA19002.hp2 NA19009.hp1 NA19056.hp2 NA19066.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0010 a0011	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0003c0009 a0003c0025 a0004c0008 a0005c0014 a0010c0024 a0011c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0032 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0053 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0014 a0001c0002t0018 a0001c0002t0043 a0001c0006t0009 a0002c0003t0005 a0002c0003t0007 a0002c0003t0008 a0002c0003t0024 a0002c0003t0029 a0002c0004t0005 a0002c0004t0008 a0003c0009t0020 a0003c0009t0034 a0003c0025t0020 a0004c0008t0022 a0005c0014t0045 a0010c0024t0013 a0011c0021t0013	a0001c0001t0001g0037 a0001c0001t0001g0107 a0001c0001t0001g0127 others(63): Show a0001c0001t0001g0037 a0001c0001t0001g0107 a0001c0001t0001g0127 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0252 a0001c0001t0002g0044 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0202 a0001c0001t0003g0011 a0001c0001t0003g0021 a0001c0001t0003g0093 a0001c0001t0003g0166 a0001c0001t0003g0228 a0001c0001t0004g0010 a0001c0001t0004g0194 a0001c0001t0012g0075 a0001c0001t0012g0092 a0001c0001t0012g0123 a0001c0001t0014g0076 a0001c0001t0017g0051 a0001c0001t0018g0111 a0001c0001t0032g0081 a0001c0001t0038g0151 a0001c0001t0040g0008 a0001c0001t0041g0138 a0001c0001t0053g0149 a0001c0002t0001g0003 a0001c0002t0001g0055 a0001c0002t0001g0101 a0001c0002t0001g0125 a0001c0002t0001g0137 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0193 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0225 a0001c0002t0001g0235 a0001c0002t0001g0275 a0001c0002t0002g0203 a0001c0002t0002g0270 a0001c0002t0004g0157 a0001c0002t0014g0129 a0001c0002t0018g0098 a0001c0002t0043g0198 a0001c0006t0009g0052 a0001c0006t0009g0057 a0002c0003t0005g0012 a0002c0003t0007g0212 a0002c0003t0007g0250 a0002c0003t0008g0082 a0002c0003t0024g0077 a0002c0003t0029g0139 a0002c0004t0005g0251 a0002c0004t0008g0113 a0003c0009t0020g0128 a0003c0009t0034g0102 a0003c0025t0020g0114 a0004c0008t0022g0053 a0004c0008t0022g0168 a0005c0014t0045g0176 a0010c0024t0013g0115 a0011c0021t0013g0091	66	276	0.2391	306	c.-65 others(325): Show c.-65-21527_-65-21526insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAGAAATATTTGG	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94276661	T T	TAAGAAAT others(299): Show TAAGAAATATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	276	0.0036	306	c.-65 others(325): Show c.-65-21527_-65-21526insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAGAAATATTTGG	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MEGF6_chr1_3482951_3616508	3583342	G G	GCAGCCAC others(299): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACCCA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18747.hp1 HG00597.hp2 NA18747.hp1	a0043 a0094 a0043 a0094	a0043c0024 a0094c0051 a0043c0024 a0094c0051	a0043c0024t0004 a0094c0051t0001 a0043c0024t0004 a0094c0051t0001	a0043c0024t0004g0020 a0094c0051t0001g0046 a0043c0024t0004g0020 a0094c0051t0001g0046	2	292	0.0069	306	c.377 others(323): Show c.377-3414_377-3413insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEI4_chr6_77648039_77932045	77654537	T T	TAAAAAAT others(299): Show TAAAAAATTGAAAACAATGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAG TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00738.hp2 others(41): Show HG00597.hp1 HG00621.hp1 HG00738.hp2 HG01175.hp2 HG01496.hp1 HG01952.hp2 HG02165.hp2 HG02523.hp2 HG02622.hp1 HG02735.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03225.hp2 NA18747.hp2 NA18941.hp1 NA18947.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp2 NA18980.hp2 NA18982.hp1 NA18987.hp1 NA18990.hp1 NA18994.hp1 NA19001.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19090.hp2 NA20905.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0006 a0003c0004 others(1): Show a0001c0001 a0001c0006 a0003c0004 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0006t0001 a0003c0004t0008 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0316 a0001c0001t0001g0317 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0333 a0001c0001t0002g0357 a0001c0001t0007g0345 a0001c0001t0007g0356 a0001c0001t0008g0334 a0001c0001t0008g0336 a0001c0001t0008g0337 a0001c0001t0009g0354 a0001c0006t0001g0315 a0001c0006t0001g0348 a0001c0006t0001g0349 a0003c0004t0008g0327 a0003c0004t0008g0335 a0003c0004t0008g0338 a0003c0004t0008g0339 a0003c0004t0008g0340 a0003c0004t0008g0341 a0005c0005t0001g0353	44	360	0.1222	306	c.-15 others(323): Show c.-15+1462_-15+1463insGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAATTGAAAACAAT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
METTL2B_chr7_128471748_128511602	128510773	A A	AAATGTAT others(299): Show AAATGTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0149 a0001c0002t0054g0149	1	406	0.0025	306	c.88 others(317): Show c.8857_*8858insAATGTATTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTG CAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	METTL2B	ENSG00000165055.16	transcript	ENST00000262432.13	protein_coding		4172		chr7	TogoVar
MGLL_chr3_127684066_127827515	127777012	T T	TAAAAAGC others(299): Show TAAAAAGCTATGCCCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp1 NA19240.hp2 HG02145.hp1 HG03195.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0016 a0001c0001t0003 a0001c0001t0004 a0001c0002t0016	a0001c0001t0003g0101 a0001c0001t0004g0050 a0001c0002t0016g0187 a0001c0001t0003g0101 a0001c0001t0004g0050 a0001c0002t0016g0187	3	314	0.0096	306	c.262 others(323): Show c.262+4776_262+4777insTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCA CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCCTGGGCATAGCTTTTT	MGLL	ENSG00000074416.16	transcript	ENST00000265052.10	protein_coding	3/7			chr3	TogoVar
MICAL3_chr22_17782649_18029561	17876784	G G	GGGAGGTT others(299): Show GGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAG ATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAT GGAGGTTATGGCAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGC TTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGT TAAGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGG AAGTTAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	274	0.0037	306	c.224 others(325): Show c.2242-4762_2242-4761insATAACTTCCCTAACCTCCTTAACCTC CCTAACCTCCATAAGCTCCCTAACCTCCTTAACCTCCCTAACCTCCATAA GCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCC CTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAAC CTCCCTCACCTCCATAACTGCCATAACCTCCATAACCTCCCTAACCTCCC TAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACT GCCATAACCTCCATAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877099	G G	GGGAAGTT others(299): Show GGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAG TTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTGAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGT GAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGG AGGTTAT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0026 a0026	a0026c0050 a0026c0050	a0026c0050t0001 a0026c0050t0001	a0026c0050t0001g0165 a0026c0050t0001g0165	1	274	0.0037	306	c.224 others(325): Show c.2242-5077_2242-5076insATAACCTCCATAACCTCCCTAACCTC CCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAA CTTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTAACCTCCCTAACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877225	G G	GGGAGGTT others(299): Show GGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGG GAGGTTAGGGAGCTTATGGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGG AAGTTAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0266 a0001c0002t0025g0266	1	274	0.0037	306	c.224 others(325): Show c.2242-5203_2242-5202insATAACTTCCCTAACCTCCATAACCTC CATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CTTCTCTAACCTCCATAAGCTCCCTAACCTCCCTAACCTCCATAACTTCC CTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAAC CTCCCTAACCTCCATAACTTCTCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAGCTCCCTAACC TCCCTAACCTCCATAACTTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877373	G G	GGTTATGG others(299): Show GGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAG GTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAT GGAGGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATG GAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0021 a0021	a0021c0054 a0021c0054	a0021c0054t0003 a0021c0054t0003	a0021c0054t0003g0094 a0021c0054t0003g0094	1	274	0.0037	306	c.224 others(325): Show c.2242-5351_2242-5350insTTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCC ATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCCTAACCTCCATAAC CTCCCTCACCTCCATAACCTCCATAACCTCCATAACCTCCATAACCTCCC TAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACTTCCCTAACC TCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACCTCCATAACTTCCCTAACCTCCATAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877522	G G	GGGAAGTT others(299): Show GGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGT GAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGG AGGTTAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp2 HG02602.hp1 HG00140.hp1 HG01243.hp2 HG02602.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0012 a0001c0002 a0002c0012	a0001c0002t0004 a0002c0012t0001 a0002c0012t0002 a0001c0002t0004 a0002c0012t0001 a0002c0012t0002	a0001c0002t0004g0258 a0002c0012t0001g0150 a0002c0012t0002g0149 a0001c0002t0004g0258 a0002c0012t0001g0150 a0002c0012t0002g0149	3	274	0.0110	306	c.224 others(325): Show c.2242-5500_2242-5499insATAACCTCCATAACTTCCCTAACCTC CATAACCTCCCTAACCTCCATAATCTCCCTCACCTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCC CTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCC TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACC TCCCTAACCTCCCTAACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MKKS_chr20_10396009_10439222	10397258	T T	TAAAAAAG others(299): Show TAAAAAAGAACATAGTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCCGTCTCAAAA AAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00621.hp2 others(29): Show HG00140.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG01123.hp2 HG01243.hp1 HG01928.hp1 HG01975.hp2 HG02056.hp2 HG02155.hp1 HG02293.hp2 HG02523.hp1 HG02602.hp1 HG02647.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 NA18951.hp1 NA18953.hp2 NA18965.hp1 NA18972.hp2 NA18997.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19056.hp1 NA19067.hp1 NA19082.hp1 NA19086.hp2 NA19090.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0010 a0002c0002t0021 others(1): Show a0002c0002t0005 a0002c0002t0010 a0002c0002t0021 a0002c0002t0040	a0002c0002t0005g0029 a0002c0002t0005g0030 a0002c0002t0005g0312 others(27): Show a0002c0002t0005g0029 a0002c0002t0005g0030 a0002c0002t0005g0312 a0002c0002t0005g0313 a0002c0002t0005g0316 a0002c0002t0005g0319 a0002c0002t0005g0320 a0002c0002t0005g0322 a0002c0002t0005g0323 a0002c0002t0005g0324 a0002c0002t0005g0325 a0002c0002t0005g0326 a0002c0002t0005g0327 a0002c0002t0005g0328 a0002c0002t0005g0329 a0002c0002t0005g0330 a0002c0002t0005g0331 a0002c0002t0005g0332 a0002c0002t0005g0333 a0002c0002t0005g0334 a0002c0002t0005g0335 a0002c0002t0005g0339 a0002c0002t0005g0340 a0002c0002t0005g0341 a0002c0002t0005g0342 a0002c0002t0010g0037 a0002c0002t0010g0042 a0002c0002t0021g0318 a0002c0002t0021g0336 a0002c0002t0040g0321	32	390	0.0821	306	c.79 others(317): Show c.7988_*7989insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCACTATGTTCTTTTTT	MKKS	ENSG00000125863.20	transcript	ENST00000347364.7	protein_coding		3750		chr20	TogoVar
MLPH_chr2_237482251_237560322	237542869	G G	GTGGAGAC others(299): Show GTGGAGACAGTGGTGAGTTGGGGGACAGTAGTGAGTGGGGGGACAGTGGT GAGTGGGCACGGTAGTGAGTGGGGAGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGGTACAGTGGTGAGTGGGCACAGTAGTGAGTAGGGGGACAGTG GTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTTGGGGGACAG TGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAG TGGTGAGTGGGGGGACAGTGGTGAGGGGACAGTAGTGAGTAGGGGACAGT GTTGAGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0116 a0006c0006t0003g0116	1	286	0.0035	306	c.153 others(323): Show c.1539+213_1539+214insAGACAGTGGTGAGTTGGGGGACAGTAGT GAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGAGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGGGTACAGTGGTGAGTGGGCACAGTA GTGAGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAG TGGTGAGTTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGAC AGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGGGGACAG TAGTGAGTAGGGGACAGTGTTGAGTTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOB1A_chr2_74147528_74183879	74176270	T T	TGTCTCAA others(299): Show TGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGAGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG01106.hp2 others(10): Show HG00597.hp1 HG00621.hp1 HG01106.hp2 HG01515.hp1 HG01517.hp1 HG02055.hp1 HG02074.hp1 HG02145.hp1 HG03017.hp1 HG03098.hp2 HG03831.hp2 NA18988.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0031 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0031 a0001c0001t0046	a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0256 others(8): Show a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0271 a0001c0001t0005g0194 a0001c0001t0031g0114 a0001c0001t0046g0259	13	402	0.0323	306	c.14+ others(321): Show c.14+2390_14+2391insGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCGCTA CCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTT TTTTTTTTTTTTTTTTTTTTTGAGAC	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar
MOB1A_chr2_74147528_74183879	74176275	C C	CAAAAAAA others(299): Show CAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTGGTAGCGGGAGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02071.hp1 HG02155.hp1 others(4): Show HG00544.hp2 HG02071.hp1 HG02155.hp1 HG04184.hp2 NA18953.hp1 NA19055.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0047 a0001c0001t0003 a0001c0001t0047	a0001c0001t0003g0213 a0001c0001t0003g0228 a0001c0001t0003g0229 others(4): Show a0001c0001t0003g0213 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0264 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0047g0265	7	402	0.0174	306	c.14+ others(321): Show c.14+2385_14+2386insTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTC CCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCTTTTTTTTTTTTTTTTTTTTTTTT	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar
MOB1A_chr2_74147528_74183879	74176275	C C	CAAAAAAA others(299): Show CAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02630.hp2 others(5): Show HG01884.hp1 HG02486.hp2 HG02630.hp2 HG02647.hp2 HG03041.hp2 HG03209.hp1 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0043 a0001c0001t0048 a0001c0001t0006 a0001c0001t0043 a0001c0001t0048	a0001c0001t0006g0027 a0001c0001t0006g0263 a0001c0001t0006g0272 others(3): Show a0001c0001t0006g0027 a0001c0001t0006g0263 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0043g0225 a0001c0001t0048g0262	8	402	0.0199	306	c.14+ others(321): Show c.14+2385_14+2386insTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCTTTTTTTTTTTTTTTTTTTTTTTT	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar
MOSPD2_chrX_14868421_14927327	14899114	T T	TGAACTAG others(299): Show TGAACTAGAAAGTCTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTATTT TTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGC GCCCGGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	268	0.0037	306	c.478 others(323): Show c.478-1444_478-1443insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTT ATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCA CCGCGCCCGGCGAACTAGAAAGTCTTTC	MOSPD2	ENSG00000130150.12	transcript	ENST00000380492.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MS4A4E_chr11_60195270_60248137	60206479	A A	ATATATAT others(299): Show ATATATATATGTATATATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATGTATATATATGTATATATATGTATATATATGTAT ATATATGTGTATATATGTATATATATGTATATATATGTATATATATATGT GTATATATATGTATATATATGTATATATATATGTGTATATATATGTATAT ATATGTATATATATGTATATATATGTATATATATATGTATATATATATGT GTATATATATGTATATATATATGTATATATATGTATATATATATGTGTAT ATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03139.hp1 HG03195.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0165 a0004c0005t0002g0166 a0004c0005t0002g0165 a0004c0005t0002g0166	2	410	0.0049	306	c.484 others(321): Show c.484-660_484-659insCATATATATACACATATATATATACATATA TATACATATATATATACATATATATACACATATATATATACATATATATA TACATATATATACATATATATACATATATATACATATATATACACATATA TATATACATATATATACATATATATACACATATATATATACATATATATA CATATATATACATATATACACATATATATACATATATATACATATATATA CATATATATACATATATACATATATATACATATATATATACATATATATA TACATATATATATATACATATATATA	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(299): Show GGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGG GGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGC GCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTC GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGG GTGTGTGGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAG GAGGGGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	388	0.0026	306	c.159 others(323): Show c.1596+165_1596+166insTGTGGAGGGGGGCGCGTGGGGGGGGCGC ATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGA GGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAG GGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGG AGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCG TGGGGGTGTGTGGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCG TGGAGGAGGGGCGCGTGGAGGAGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767865	G G	GGGGGCAC others(299): Show GGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGT GTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGG GTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGA GGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGA GGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCAC GTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGG GCGTGGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	388	0.0026	306	c.159 others(323): Show c.1596+396_1596+397insGGGCACGTGGAGGGGTCGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAG GAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACG TGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGG CGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGG GGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGT GGAGGGGGCCGTGTGGGGGGGCGTGGAG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(299): Show TTTAAGCTTCTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTCGC CCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCT GCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG03516.hp1 HG02258.hp1 HG02280.hp1 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0015 a0001c0001 a0004c0015	a0001c0001t0003 a0001c0001t0009 a0004c0015t0003 a0001c0001t0003 a0001c0001t0009 a0004c0015t0003	a0001c0001t0003g0139 a0001c0001t0009g0116 a0004c0015t0003g0112 a0001c0001t0003g0139 a0001c0001t0009g0116 a0004c0015t0003g0112	3	244	0.0123	306	c.286 others(327): Show c.2864+38256_2864+38257insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAGAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
NACC2_chr9_136001537_136100289	136023099	A A	AGGGAGGG others(299): Show AGGGAGGGAGGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGGGAG GGAGGGAAGGAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGG ACGGAGGAGGGAGGAGGGAGGGAGGAGGGAGGCGGGAGGGGGGAGGGAGG AGGGAGGAGGAGGGAGGAGAGAGGAGGAGAGAGGAGGGAGGAGAGAGGAG GAGAGAGGAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGG AGGGAGGAGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGG AGGGAGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0049 a0001c0017t0049	a0001c0017t0049g0249 a0001c0017t0049g0249	1	348	0.0029	306	c.887 others(323): Show c.887-6671_887-6670insCCTCCCTCCTCCCTCCCCCCCTCCTCCC TCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCT CCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCTCTCTCCTCCCTCCTCT CTCCTCCTCTCTCCTCCCTCCTCCTCCCTCCTCCCTCCCCCCTCCCGCCT CCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCCC TCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTTCCCTCCCTCCTC CCTCCCTCTTCCCTCCCTCCTCCCTCCC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(299): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAG GGACGGAGGAGGGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGA GGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAG GGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGG AAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGGAGGGAGGAGGGAGGGG GAGGGAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02015.hp2 HG03831.hp2 HG01361.hp2 HG02015.hp2 HG03831.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0078 a0001c0005t0012 a0001c0004t0078 a0001c0005t0012	a0001c0004t0078g0151 a0001c0005t0012g0148 a0001c0005t0012g0312 a0001c0004t0078g0151 a0001c0005t0012g0148 a0001c0005t0012g0312	3	348	0.0086	306	c.887 others(323): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCT CCTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCC TCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCC CTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCCCTC CCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCTCTTCCC TCCCTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NCS1_chr9_130167404_130242303	130221938	A A	ATATATAA others(299): Show ATATATAAATATATATACATAATATAAATTATGTATATATAAATATATAT ACATAATATAAATTATGTATATATAAATATATATACATAATATAAATTAT GTATATATAAATATATATACATAAATATAAATTATGTATATATAAATATA TATACATAATATAAATTATGTATATATAAATATATATACATAATATAAAT TATGTATATATAAATATATATACATAATATAAATTATGTATATATAAATA TATATACATAATATAAATTATGTATATATAAATATATATACATAAATATA AATTATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0109 a0001c0002t0109	a0001c0002t0109g0339 a0001c0002t0109g0339	1	348	0.0029	306	c.308 others(321): Show c.308-691_308-690insTATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATAAATATAAATTATGTATATATAAATATATA TACATAATATAAATTATGTATATATAAATATATATACATAATATAAATTA TGTATATATAAATATATATACATAATATAAATTATGTATATATAAATATA TATACATAATATAAATTATGTATATATAAATATATATACATAAATATAAA TTATGTATATAAATATATATACATAA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(299): Show CAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 NA18906.hp2 HG02965.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0050 a0001c0001t0001g0011 a0001c0001t0001g0050	2	376	0.0053	306	c.98 others(315): Show c.980_*981insTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGG CTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCTTTTTTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NDUFS6_chr5_1796407_1821048	1812526	T T	TGACTCCT others(299): Show TGACTCCTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACGACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19081.hp1 NA19085.hp1 NA18940.hp1 NA19081.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0087 a0001c0001t0001g0039 a0001c0001t0001g0087	3	444	0.0068	306	c.187 others(323): Show c.187-1801_187-1800insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGACTCCTCTTTT	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFS6_chr5_1796407_1821048	1812526	T T	TGACTCCT others(299): Show TGACTCCTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACGACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATTTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	444	0.0023	306	c.187 others(323): Show c.187-1801_187-1800insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATTTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGACTCCTCTTTT	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFS6_chr5_1796407_1821048	1812526	T T	TGACTCCT others(299): Show TGACTCCTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACGACAG GCGCCTGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(74): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00609.hp2 HG00621.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02809.hp1 HG03486.hp2 HG03490.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18941.hp1 NA18943.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18963.hp2 NA18975.hp1 NA18977.hp2 NA18982.hp2 NA18988.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19010.hp1 NA19030.hp1 NA19062.hp1 NA19063.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19084.hp1 NA19086.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0025 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0003g0104	77	444	0.1734	306	c.187 others(323): Show c.187-1801_187-1800insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACGACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGACTCCTCTTTT	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEDD4L_chr18_58039226_58406539	58282123	T T	TAAAAGTC others(299): Show TAAAAGTCAGGTTGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCT AAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp1 HG01346.hp1 others(9): Show HG00673.hp1 HG01099.hp1 HG01346.hp1 HG01884.hp2 HG02055.hp2 HG02615.hp1 HG02647.hp2 HG02922.hp1 HG03704.hp2 NA18612.hp2 NA19085.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019 a0001c0001t0035 a0001c0001t0049	a0001c0001t0001g0073 a0001c0001t0001g0096 a0001c0001t0002g0035 others(9): Show a0001c0001t0001g0073 a0001c0001t0001g0096 a0001c0001t0002g0035 a0001c0001t0002g0059 a0001c0001t0002g0109 a0001c0001t0003g0014 a0001c0001t0007g0092 a0001c0001t0011g0102 a0001c0001t0014g0074 a0001c0001t0019g0036 a0001c0001t0035g0045 a0001c0001t0049g0008	12	118	0.1017	306	c.297 others(325): Show c.297+30082_297+30083insCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAGTCAGGTTG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	5/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58282123	T T	TAAAAGTC others(299): Show TAAAAGTCAGGTTGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCT AAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TAGTTGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0049 a0001c0001t0033g0049	1	118	0.0085	306	c.297 others(325): Show c.297+30082_297+30083insCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTTGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAGTCAGGTTG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	5/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEGR1_chr1_71390943_72287539	71928131	C C	CATATGTG others(299): Show CATATGTGTATATATACACACATATGTATATATACACATATGTATATATG TATATATACACACATATGTATACATACACATATGTATATATGTATATATA CACACATATGTATACATACACATATGTATATATGTATATATACACACATA TGTGTATATACACATATGTATATATGTATATATACACACATATGTGTATA TACACATATGTATATATGTATATATACACACATATGTATATACGTATATA TGTATATATACACACATATGTATATACGTATATATGTATATATACACACA TATGTAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	64	0.0156	306	c.409 others(323): Show c.409+6947_409+6948insATACATATGTGTGTATATATACATATAT ACGTATATACATATGTGTGTATATATACATATATACGTATATACATATGT GTGTATATATACATATATACATATGTGTATATACACATATGTGTGTATAT ATACATATATACATATGTGTATATACACATATGTGTGTATATATACATAT ATACATATGTGTATGTATACATATGTGTGTATATATACATATATACATAT GTGTATGTATACATATGTGTGTATATATACATATATACATATGTGTATAT ATACATATGTGTGTATATATACACATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEU4_chr2_241804193_241822413	241805253	C C	CCCCCTCA others(299): Show CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0176 a0002c0003t0002g0176	1	319	0.0031	306	c.-40 others(317): Show c.-4025_-4024insCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC TTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3939		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8656420	C C	CTTCTCTC others(299): Show CTTCTCTCTGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCC CCCTTCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTACA GCCCACCTTGTGCACAAAGCCAGTGTTCTCCCTGCAGCCCACCTTCTCCC AGAAACCCTCCTGCCTTCTCCACGCAGCCCATCTTCTCTCTGAAGCCCAC CTTCTCCCCACAGCCCACCTCCTCCCGCAGCCCACCTCCTCCCTGAAGCC CACCTCCTCCCACAGCCCACCTCCTCCCTGAAGCCCACCTCCTCCCTGAA GCCCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01074.hp2 others(22): Show HG00099.hp2 HG00323.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG02004.hp1 HG02056.hp1 HG02523.hp2 HG02698.hp2 HG02976.hp1 HG03710.hp1 NA18956.hp2 NA18962.hp2 NA18971.hp2 NA18979.hp2 NA19011.hp2 NA19012.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0014	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0007c0007 a0014c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0139 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0023 a0002c0002t0096 a0003c0003t0006 a0003c0003t0010 a0003c0003t0076 a0003c0003t0084 a0007c0007t0002 a0014c0012t0085	a0001c0001t0001g0018 a0001c0001t0001g0052 a0001c0001t0001g0313 others(22): Show a0001c0001t0001g0018 a0001c0001t0001g0052 a0001c0001t0001g0313 a0001c0001t0002g0060 a0001c0001t0003g0065 a0001c0001t0004g0057 a0001c0001t0005g0048 a0001c0001t0005g0257 a0001c0001t0139g0277 a0002c0002t0002g0006 a0002c0002t0002g0225 a0002c0002t0007g0003 a0002c0002t0007g0293 a0002c0002t0008g0002 a0002c0002t0023g0004 a0002c0002t0096g0270 a0003c0003t0006g0250 a0003c0003t0006g0307 a0003c0003t0010g0274 a0003c0003t0076g0356 a0003c0003t0084g0058 a0007c0007t0002g0005 a0007c0007t0002g0007 a0007c0007t0002g0008 a0014c0012t0085g0059	25	366	0.0683	306	c.-16 others(327): Show c.-163-18130_-163-18129insTCTCTCTGAAGCCCACCTCCTCCC GCAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTC CCTGAAGCCCACCTTCTCCCTACAGCCCACCTTGTGCACAAAGCCAGTGT TCTCCCTGCAGCCCACCTTCTCCCAGAAACCCTCCTGCCTTCTCCACGCA GCCCATCTTCTCTCTGAAGCCCACCTTCTCCCCACAGCCCACCTCCTCCC GCAGCCCACCTCCTCCCTGAAGCCCACCTCCTCCCACAGCCCACCTCCTC CCTGAAGCCCACCTCCTCCCTGAAGCCCCCTT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656420	C C	CTTCTCTC others(299): Show CTTCTCTCTGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCC CCCTTCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTACA GCCCACCTTGTGCACAAAGCCAGTGTTCTCCCTGCAGCCCACCTTCTCCC AGAAACCCTCCTGCCTTCTCCACGCAGCCCATCTTCTCTCTGAAGCCCAC CTTCTCCCCACAGCCCACCTCCTCCCTCAGCCCACCTCCTCCCTGAAGCC CACCTCCTCCCACAGCCCACCTCCTCCCTGAAGCCCACCTCCTCCCTGAA GCCCCCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19043.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0144 a0001c0001t0021 a0001c0001t0144	a0001c0001t0021g0012 a0001c0001t0144g0013 a0001c0001t0021g0012 a0001c0001t0144g0013	2	366	0.0055	306	c.-16 others(327): Show c.-163-18130_-163-18129insTCTCTCTGAAGCCCACCTCCTCCC GCAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTC CCTGAAGCCCACCTTCTCCCTACAGCCCACCTTGTGCACAAAGCCAGTGT TCTCCCTGCAGCCCACCTTCTCCCAGAAACCCTCCTGCCTTCTCCACGCA GCCCATCTTCTCTCTGAAGCCCACCTTCTCCCCACAGCCCACCTCCTCCC TCAGCCCACCTCCTCCCTGAAGCCCACCTCCTCCCACAGCCCACCTCCTC CCTGAAGCCCACCTCCTCCCTGAAGCCCCCTT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOC4L_chr12_132139457_132157468	132149622	C C	CCACACCC others(299): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGG CCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCT CGCTCCT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	294	0.0034	306	c.901 others(321): Show c.901+727_901+728insCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCGCTCCTACCACACCCCTAATCCCC TCGGTGAGTGCGGCCGCCTCGCTCCT	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149842	C C	CCACACCC others(299): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0102 a0001c0006t0001g0102	1	294	0.0034	306	c.901 others(321): Show c.901+947_901+948insCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCCT	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150528	G G	GCCGCCTC others(299): Show GCCGCCTCGCTCACACCACACCCCAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0275 a0007c0011t0001g0275	1	294	0.0034	306	c.902 others(321): Show c.902-430_902-429insAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTG CCACCGCCTCGCTCACACCACACCCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535720	G G	GTGGAGGG others(299): Show GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGAGTGCAGG GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGAG TGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0004 a0005c0023t0004	a0005c0023t0004g0175 a0005c0023t0004g0175	1	324	0.0031	306	c.140 others(323): Show c.140+8303_140+8304insATGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGG ATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCA	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPAT_chr11_108152215_108227638	108180542	C C	CAAAAAAT others(299): Show CAAAAAATGACACGTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCGTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	350	0.0029	306	c.907 others(323): Show c.907-3453_907-3452insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCT CACTGCACGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGTGCCCGGCCACGTGTCATTTTTT	NPAT	ENSG00000149308.17	transcript	ENST00000278612.9	protein_coding	10/17			chr11	TogoVar
NRDE2_chr14_90262860_90336941	90282319	T T	TAAAAAAA others(299): Show TAAAAAAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGC GCCACTGCACTCCAGTCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0081 a0001c0003t0081	a0001c0003t0081g0308 a0001c0003t0081g0308	1	344	0.0029	306	c.329 others(325): Show c.3298-3187_3298-3186insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGACTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTGTTTTTTTT	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	12/13			chr14	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(299): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0153 a0004c0004t0001g0153	1	360	0.0028	306	c.-30 others(317): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUP160_chr11_47773118_47853350	47785088	T T	TGAGTTTC others(299): Show TGAGTTTCAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGG GGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC GCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01257.hp1 HG01175.hp1 HG01257.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0007 a0002c0002 a0004c0007	a0002c0002t0001 a0004c0007t0001 a0002c0002t0001 a0004c0007t0001	a0002c0002t0001g0040 a0004c0007t0001g0043 a0002c0002t0001g0040 a0004c0007t0001g0043	2	338	0.0059	306	c.374 others(321): Show c.3747-26_3747-25insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAATCTGAAACTC	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	32/35			chr11	TogoVar
NUP210L_chr1_153987690_154160073	154151282	T T	TTCATTGA others(299): Show TTCATTGATTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0109 a0001c0006t0001g0109	1	290	0.0035	306	c.340 others(323): Show c.340+1453_340+1454insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAGAATCAATGA	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	2/39			chr1	TogoVar
NXN_chr17_794310_984776	841420	C C	CGCATCTC others(299): Show CGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACAC GGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACGCCGGCGAGCAGG TCCCCCCGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGACC ACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTC ACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACGGGCGAGC AGGTCCTCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCTCCCGA CCATGGA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	242	0.0041	306	c.361 others(325): Show c.361-15343_361-15342insTCCATGGTCGGGAGGACCTGCTCGCC CGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGC TCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCTCCATGGTCGGG AGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTT GCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGT CGGGAGGACCTGCTCGCGGGTGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949502	C C	CCCCCCGG others(299): Show CCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTC CTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCCTGCCTCCTCCTCTCCCC CCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCG GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTC CCCGCGCCTCCTCCTCTCCCCCCCTGCCTCCTCCTCTCCCCCGCGGCCTC CTCCTCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	242	0.0041	306	c.360 others(325): Show c.360+29816_360+29817insAGAGGAGGAGGCCGCGGGGGAGAGGA GGAGGCAGGGGGGGAGAGGAGGAGGCGCGGGGAGAGGAGGAGGCAGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC CGGGGGGAGAGGAGGAGGCAGGGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGGAGAGGAGGAGGCAGG GGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAG GAGGCCGGGGGGAGAGGAGGAGGCCGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar

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Search Results (Total: 10000 hits)