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
MICAL3_chr22_17782649_18029561	18028746	T T	TAAAGAGT others(304): Show TAAAGAGTCAGGGTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAAT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0035 a0015c0028t0035	a0015c0028t0035g0272 a0015c0028t0035g0272	1	274	0.0037	311	c.-45 others(322): Show c.-4541_-4540insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGA CTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTTGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCGAGACCCTGACTCTTT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding		4186		chr22	TogoVar
MOGAT1_chr2_222666658_222714930	222680442	T T	TAAAAGCA others(304): Show TAAAAGCAGTGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	318	0.0031	311	c.95- others(326): Show c.95-7889_95-7888insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAGCAGTGTAG	MOGAT1	ENSG00000124003.13	transcript	ENST00000446656.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPC1_chr6_166359919_166387940	166360865	G G	GAGAAATG others(304): Show GAGAAATGATTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCCCGCTGTT TAGCCCAGGCCGGATTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTTGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02922.hp1 HG03516.hp1 others(2): Show HG02559.hp1 HG02922.hp1 HG03516.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0125 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0125 a0001c0001t0001g0126	5	330	0.0152	311	c.45 others(322): Show c.4563_*4564insGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACC ATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAATCCGGCCTGGGCTAAACAGCGGGACTCCGTCTCAAA AAAAAAAAAAAAAAAATAATCATTTCT	MPC1	ENSG00000060762.20	transcript	ENST00000360961.11	protein_coding		4053		chr6	TogoVar
MRPS35_chr12_27705832_27761295	27711862	A A	AATAATTG others(304): Show AATAATTGTCTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGA GACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	358	0.0028	311	c.112 others(326): Show c.112+923_112+924insTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGT AGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCATAATTGTCTATTTTT	MRPS35	ENSG00000061794.13	transcript	ENST00000081029.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(304): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCAAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGCC CCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0224	1	256	0.0039	311	c.241 others(330): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(304): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGCC CCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18951.hp1 NA18943.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0170 a0001c0003t0001g0198 a0001c0001t0001g0170 a0001c0003t0001g0198	2	256	0.0078	311	c.241 others(330): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(304): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGCC CCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGATGGG CGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp2 HG03130.hp1 others(1): Show HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0091 a0001c0008t0001g0092 a0001c0008t0001g0094 others(1): Show a0001c0008t0001g0091 a0001c0008t0001g0092 a0001c0008t0001g0094 a0001c0008t0001g0134	4	256	0.0156	311	c.241 others(330): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCATCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSRA_chr8_10049292_10433891	10275081	T T	TGAGAATA others(304): Show TGAGAATAATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG02922.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0081 a0001c0001t0004g0075 a0001c0001t0004g0081	2	286	0.0070	311	c.332 others(330): Show c.332-26440_332-26439insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGAGAATAATTCTT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTPAP_chr10_30304801_30354278	30325833	T T	TCCCACCC others(304): Show TCCCACCCCACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp2 others(94): Show HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01243.hp2 HG01257.hp1 HG01496.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp2 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp2 HG03654.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19080.hp2 NA19086.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0008 a0007c0005 others(1): Show a0001c0001 a0001c0008 a0007c0005 a0008c0006	a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 others(13): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0036 a0001c0001t0041 a0001c0008t0002 a0007c0005t0002 a0008c0006t0002	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0028 others(80): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0259 a0001c0001t0010g0027 a0001c0001t0010g0154 a0001c0001t0010g0155 a0001c0001t0015g0031 a0001c0001t0015g0211 a0001c0001t0017g0190 a0001c0001t0017g0193 a0001c0001t0017g0208 a0001c0001t0020g0220 a0001c0001t0020g0221 a0001c0001t0021g0212 a0001c0001t0021g0213 a0001c0001t0022g0215 a0001c0001t0028g0176 a0001c0001t0029g0130 a0001c0001t0030g0161 a0001c0001t0031g0210 a0001c0001t0036g0135 a0001c0001t0041g0156 a0001c0008t0002g0166 a0007c0005t0002g0207 a0008c0006t0002g0163	97	358	0.2710	311	c.992 others(326): Show c.992+590_992+591insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAGTGGGGTGGG	MTPAP	ENSG00000107951.15	transcript	ENST00000263063.9	protein_coding	5/8			chr10	TogoVar
MUC22_chr6_31005474_31040402	31013129	C C	CTTTTTTT others(304): Show CTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGATTACAGGCGTGAGCCACC GCGCCCGGCCCT	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0178 a0002c0006t0001g0178	1	461	0.0022	311	c.70+ others(326): Show c.70+2367_70+2368insTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGATTACAGGCGTGAG CCACCGCGCCCGGCCCTTTTTTTTTTTTTTT	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYDGF_chr19_4652545_4675342	4663691	G G	GTCCTCAT others(304): Show GTCCTCATTCTACACAGTCTCCAATCTGTGCTCTCCCCACCCACCCCATC CTCATTCTACAAAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCAT TCTACACAGTCTCCAATCTGTGCCCTCTCCACCCACCCCATCCTCATTCT ACAGCCTCCAATCTACCCTCCCCACCTCATCCTCATTCTACAGCCTCCAG TATACCCTCCCCACCCACCCTGTCCTCATTCTACACAGTCTCCAATCTGT GCTCTCCCCACCCACCTCATCCTCATTCTACAGCCTCCAGTATACCCTCC CCACCCACCCCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0101 a0002c0002t0002g0101	1	410	0.0024	311	c.287 others(328): Show c.287+1184_287+1185insTGGGGTGGGTGGGGAGGGTATACTGGAG GCTGTAGAATGAGGATGAGGTGGGTGGGGAGAGCACAGATTGGAGACTGT GTAGAATGAGGACAGGGTGGGTGGGGAGGGTATACTGGAGGCTGTAGAAT GAGGATGAGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGT GGGTGGAGAGGGCACAGATTGGAGACTGTGTAGAATGAGGATGGGGTGGG TGGGGAGGGTAGATTGGAGGCTTTGTAGAATGAGGATGGGGTGGGTGGGG AGAGCACAGATTGGAGACTGTGTAGAATGAGGA	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	AAATATAT others(304): Show AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT ATTATATATAATATATATTATATTATATATAATATATATTATATATAATA TATATTATATTATATATAATATATATTATATTATATATAATATATATTAT ATAAAATATGTATTATATTATATATAATATATATTTTATAAAATATATAT TATATTATATTATATATATTTTATAAAATATATATTATATTATATATAAT ATATATTTTATAAAATATATATTATATTATATAATATATATTATATAAAA TATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	368	0.0027	311	c.51 others(322): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT AATATAATATATATTTTATAAAATATATATTATATATAATATAATATATA TTTTATAAAATATATATAATATAATATAATATATATTTTATAAAATATAT ATTATATATAATATAATACATATTTTATATAATATATATTATATATAATA TAATATATATTATATATAATATAATATATATTATATATAATATATATTAT ATATAATATAATATATATTATATATAATATAATATATATTTTATATAATA TATATTATATATAATATAATATATATT	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(304): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTGGT GGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGG TAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18979.hp1 NA18984.hp1 HG00408.hp2 NA18979.hp1 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0345 a0001c0001t0001g0368 a0002c0002t0001g0246 a0001c0001t0001g0345 a0001c0001t0001g0368 a0002c0002t0001g0246	3	384	0.0078	311	c.160 others(328): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACTACTGCCAC CGCCGCCACCATCACCACCACCACCATCGCCGCCACCACCACCACCACCA CCATCACCACCATCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(304): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGCGGCGATGGTGGTGGT GGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTGGT GGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGG TAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG04228.hp2 HG01361.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0027 a0001c0001t0010g0025 a0001c0001t0001g0027 a0001c0001t0010g0025	2	384	0.0052	311	c.160 others(328): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCG CCACCACCACCATCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYO10_chr5_16656907_16941288	16716504	T T	TAAGAAGT others(304): Show TAAGAAGTATGACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACAAAAAATACAAAAATTAGC CGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA20300.hp1 NA21309.hp1 NA18970.hp2 NA20300.hp1 NA21309.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0008 a0003c0007 a0006c0009 a0002c0008 a0003c0007 a0006c0009	a0002c0008t0019 a0003c0007t0006 a0006c0009t0004 a0002c0008t0019 a0003c0007t0006 a0006c0009t0004	a0002c0008t0019g0125 a0003c0007t0006g0080 a0006c0009t0004g0045 a0002c0008t0019g0125 a0003c0007t0006g0080 a0006c0009t0004g0045	3	272	0.0110	311	c.193 others(330): Show c.1930-5260_1930-5259insTTTTTTTTTTTTTTTTTTGAGACGGA GTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTAT TTTTTGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTGTCATACTTCTT	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	19/40			chr5	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(304): Show TTTAAGCTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCT GTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCGCGCCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00642.hp2 others(25): Show HG00099.hp2 HG00609.hp1 HG00642.hp2 HG01071.hp1 HG01168.hp1 HG01169.hp2 HG01361.hp1 HG01433.hp2 HG02004.hp1 HG02027.hp1 HG02080.hp2 HG02280.hp2 HG02647.hp2 HG02698.hp1 HG03831.hp1 HG03834.hp2 NA18947.hp1 NA18968.hp2 NA18974.hp1 NA18978.hp2 NA18981.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19081.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0001c0004t0005 a0002c0002t0016	a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 others(25): Show a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0100 a0001c0001t0001g0146 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0003g0086 a0001c0001t0004g0184 a0001c0001t0004g0230 a0001c0001t0004g0235 a0001c0001t0005g0003 a0001c0001t0005g0087 a0001c0001t0005g0101 a0001c0001t0005g0149 a0001c0001t0008g0181 a0001c0001t0013g0223 a0001c0001t0014g0055 a0001c0001t0015g0191 a0001c0001t0015g0195 a0001c0001t0022g0180 a0001c0001t0023g0151 a0001c0004t0005g0051 a0002c0002t0016g0140	28	244	0.1148	311	c.286 others(332): Show c.2864+38256_2864+38257insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGACATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYOZ2_chr4_119130832_119192789	119150496	T T	TAAAAATG others(304): Show TAAAAATGTGGGGAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	394	0.0025	311	c.77- others(324): Show c.77-360_77-359insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAATGTGGGGAGCA	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA16_chr13_41306267_41382030	41327735	T T	TGTTTAAA others(304): Show TGTTTAAAGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTTCCGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0005 a0002c0014t0005	a0002c0014t0005g0037 a0002c0014t0005g0037	1	354	0.0028	311	c.692 others(326): Show c.692-977_692-976insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTTCCGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGTTTAAAGTTTT	NAA16	ENSG00000172766.19	transcript	ENST00000379406.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
NAALADL2_chr3_174854334_175815548	175670512	A A	AATTTATA others(304): Show AATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAA TGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATA TATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAA TTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATG TAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATA TTTATATTAAATTTATATTAAATGTAAAATTAATATATTTATATTAAATG TAAAATTAATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01255.hp1 HG00639.hp1 HG00639.hp2 HG01255.hp1	a0003 a0005 a0006 a0003 a0005 a0006	a0003c0003 a0005c0006 a0006c0010 a0003c0003 a0005c0006 a0006c0010	a0003c0003t0016 a0005c0006t0018 a0006c0010t0009 a0003c0003t0016 a0005c0006t0018 a0006c0010t0009	a0003c0003t0016g0060 a0005c0006t0018g0013 a0006c0010t0009g0054 a0003c0003t0016g0060 a0005c0006t0018g0013 a0006c0010t0009g0054	3	64	0.0469	311	c.189 others(332): Show c.1896+43150_1896+43151insATATTTATATTAAATTTATATTAA ATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAAT ATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAA ATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAAT GTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATAT ATTTATATTAAATTTATATTAAATGTAAAATTAATATATTTATATTAAAT GTAAAATTAATATATTTATATTAAATGTAAATTTAAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(304): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGA GGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAG AGAGGAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGG GAGGAGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGG AGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp2 HG01169.hp1 others(7): Show HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01884.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp2 HG02886.hp2 HG03579.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0001c0025 others(1): Show a0001c0003 a0001c0007 a0001c0025 a0002c0006	a0001c0003t0009 a0001c0007t0011 a0001c0007t0045 others(5): Show a0001c0003t0009 a0001c0007t0011 a0001c0007t0045 a0001c0007t0097 a0001c0007t0098 a0001c0007t0100 a0001c0025t0020 a0002c0006t0006	a0001c0003t0009g0347 a0001c0007t0011g0098 a0001c0007t0011g0099 others(7): Show a0001c0003t0009g0347 a0001c0007t0011g0098 a0001c0007t0011g0099 a0001c0007t0045g0034 a0001c0007t0045g0058 a0001c0007t0097g0095 a0001c0007t0098g0038 a0001c0007t0100g0089 a0001c0025t0020g0093 a0002c0006t0006g0092	10	348	0.0287	311	c.887 others(328): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTCC TCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTC CCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTG CCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCT CCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTC TTCCCTCCTTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NALF1_chr13_107158510_107872496	107822037	T T	TAAAATTA others(304): Show TAAAATTAATCACAACTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02622.hp1 HG02723.hp1 others(9): Show HG00741.hp2 HG02622.hp1 HG02723.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03486.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 others(8): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0047 a0001c0001t0059 a0001c0001t0063 a0001c0001t0069 a0001c0001t0075 a0001c0001t0084 a0001c0001t0086 a0001c0001t0092	a0001c0001t0004g0033 a0001c0001t0010g0032 a0001c0001t0010g0035 others(9): Show a0001c0001t0004g0033 a0001c0001t0010g0032 a0001c0001t0010g0035 a0001c0001t0013g0068 a0001c0001t0047g0069 a0001c0001t0059g0036 a0001c0001t0063g0034 a0001c0001t0069g0031 a0001c0001t0075g0096 a0001c0001t0084g0110 a0001c0001t0086g0117 a0001c0001t0092g0107	12	128	0.0938	311	c.915 others(330): Show c.915+43644_915+43645insTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTAGTTGTGATTAATTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAP1L5_chr4_88690913_88702829	88699189	C C	CCCCCTAG others(304): Show CCCCCTAGCCCCACCCTCTTCCCACCCACCCCCAGCCCCGCCTTCTTCTT CCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACCCT CTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCCCT ACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCCACTCATCGACCC AGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACC CACCCACCCCTACCCGCTTCTTCCCCACCCACCCACCCAGCCCCACCCCA CTCATCGACCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	414	0.0024	311	c.-14 others(322): Show c.-1436_-1435insTGGGTCGATGAGTGGGGTGGGGCTGGGTGGGTGG GTGGGGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGGGTG GGTCGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGGGGTGGGGC TGGGTGGGTGGGTGGAGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGAAGA GGGTAGGGGTGGGTCGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGATGAG TGGGGTGGGGCTGGGTGGGTGGGTGGGGAAGAAGAAGGCGGGGCTGGGGG TGGGTGGGAAGAGGGTGGGGCTAGGGG	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1361		chr4	TogoVar
NBAS_chr2_15161916_15566334	15379415	T T	TAAGAAGC others(304): Show TAAGAAGCTGATGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGAGCTTGCAGGGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0144 a0006c0008t0001g0144	1	224	0.0045	311	c.359 others(328): Show c.3590+186_3590+187insCTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCCCTGC AAGCTCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTCCATCAGCTTCTT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	30/51			chr2	TogoVar
NDUFA9_chr12_4644114_4699317	4661708	A A	ACTAGAGT others(304): Show ACTAGAGTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTC TGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00642.hp1 others(54): Show HG00438.hp2 HG00544.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01934.hp2 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02300.hp1 HG02683.hp1 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03654.hp2 HG03669.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18944.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18965.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA19009.hp1 NA19055.hp1 NA19063.hp1 NA19074.hp1 NA19078.hp2 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0026 a0001c0001t0034 a0001c0001t0038 a0001c0001t0046 a0001c0001t0052 a0001c0001t0056 a0001c0001t0064 a0001c0001t0065	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0143 others(42): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0002g0038 a0001c0001t0002g0142 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0037 a0001c0001t0003g0167 a0001c0001t0003g0180 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0145 a0001c0001t0004g0172 a0001c0001t0005g0018 a0001c0001t0005g0040 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0254 a0001c0001t0007g0080 a0001c0001t0008g0182 a0001c0001t0026g0050 a0001c0001t0034g0178 a0001c0001t0038g0040 a0001c0001t0046g0183 a0001c0001t0052g0176 a0001c0001t0056g0171 a0001c0001t0064g0188 a0001c0001t0065g0020	57	362	0.1575	311	c.553 others(326): Show c.553-814_553-813insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TTTTGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTAGAGTTCTT	NDUFA9	ENSG00000139180.11	transcript	ENST00000266544.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NDUFB4_chr3_120591336_120607507	120600110	T T	TTTTTTTT others(304): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCAAGG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	424	0.0024	311	c.181 others(326): Show c.181-991_181-990insTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAAGGTTTTTTTTTT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(304): Show CAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	376	0.0027	311	c.98 others(320): Show c.980_*981insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCC CTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTTTTTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NDUFS6_chr5_1796407_1821048	1812526	T T	TGACTCCT others(304): Show TGACTCCTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC GACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18968.hp2 NA19058.hp1 others(2): Show HG03834.hp2 NA18968.hp2 NA19058.hp1 NA19074.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0120 a0001c0001t0001g0021 a0001c0001t0001g0120	5	444	0.0113	311	c.187 others(328): Show c.187-1801_187-1800insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGACTCCTCTTTT	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEPRO_chr3_112997444_113024671	113015584	C C	CAAAACTA others(304): Show CAAAACTACTTTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0136 a0002c0002t0004g0136	1	454	0.0022	311	c.262 others(328): Show c.262-1553_262-1552insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAGAAAGTAGTTTT	NEPRO	ENSG00000163608.15	transcript	ENST00000314400.10	protein_coding	2/8			chr3	TogoVar
NEPRO_chr3_112997444_113024671	113015584	C C	CAAAACTA others(304): Show CAAAACTACTTTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0106 a0002c0002t0004g0106	1	454	0.0022	311	c.262 others(328): Show c.262-1553_262-1552insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAGAAAGTAGTTTT	NEPRO	ENSG00000163608.15	transcript	ENST00000314400.10	protein_coding	2/8			chr3	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(304): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG GGAGGAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAA GGGAGGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAG GAAGGGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAG AGGAGGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGA GGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0068 a0001c0001t0010g0068	1	304	0.0033	311	c.563 others(330): Show c.563-25477_563-25476insTCCCTCCCTCCCTCCCTCTCTCCCTC CCTTTCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCT CCCTCCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCC TTTTCCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCT CCCTCTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT TCCTCCGTCCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(304): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGGGAGGAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAA GGAAGGGAGGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATG AAAGGAAGGGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAA GGAGAGGAGGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGA GGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0078 a0001c0001t0050g0078	1	304	0.0033	311	c.563 others(330): Show c.563-25477_563-25476insTCCCTCCCTCCCTCTCTCCCTCCCTT TCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCT CCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTT CCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCT CTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT TCCTCCGTCCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(304): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGGGAGGAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAG GGAAGGAAGGGAGGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAA AATGAAAGGAAGGGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAA GGAAGGAGAGGAGGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGA GAGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02040.hp1 HG02145.hp2 others(3): Show HG01099.hp2 HG02040.hp1 HG02145.hp2 HG02155.hp2 HG02895.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0043 a0001c0001t0066	a0001c0001t0002g0121 a0001c0001t0003g0012 a0001c0001t0007g0102 others(3): Show a0001c0001t0002g0121 a0001c0001t0003g0012 a0001c0001t0007g0102 a0001c0001t0008g0143 a0001c0001t0043g0034 a0001c0001t0066g0163	6	304	0.0197	311	c.563 others(330): Show c.563-25477_563-25476insTCCCTCCCTCTCTCCCTCCCTTTCTT CCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCTCCCT TCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTTCCTC CCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCTCA CCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT TCCTCCGTCCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(304): Show CAAAAAGTATAACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03831.hp2 HG01978.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0027 a0001c0002t0003 a0001c0003t0027	a0001c0002t0003g0298 a0001c0003t0027g0016 a0001c0002t0003g0298 a0001c0003t0027g0016	2	362	0.0055	311	c.-74 others(328): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993521	C C	CCCCCCCT others(304): Show CCCCCCCTCTCCCCCCCCTCCCCCACCTCTCCCCCCTCTCCCCCCCTCCC CCCCTCCCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCC CCTCCCCCCTCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0099 a0001c0005t0009g0099	1	350	0.0029	311	c.56 others(322): Show c.5608_*5609insCCCCCCTCTCCCCCCCCTCCCCCACCTCTCCCCC CTCTCCCCCCCTCCCCCCCTCCCCCCCTCCCCCCTCTCCCCCTCCCTCCC CCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCCCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4893		chr19	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(304): Show CCCCCATCCCACCCCTGCACCCCTCCCATCCCACCTCTAAACCCCTCCTC CCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAAC CCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCTTCCTCCCTCTGCCCC CGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCGTCACACCCCTGCACC CCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCCCCC GTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCCTTGCACCC CTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG00642.hp1 others(18): Show HG00423.hp2 HG00621.hp1 HG00642.hp1 HG00741.hp1 HG01106.hp1 HG02015.hp1 HG02071.hp1 HG02129.hp1 HG02165.hp1 HG02683.hp2 HG02698.hp1 HG03239.hp2 HG06807.hp1 NA18612.hp1 NA18943.hp2 NA18980.hp2 NA19003.hp2 NA19007.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0002c0003 a0002c0008 others(3): Show a0001c0001 a0002c0003 a0002c0008 a0002c0030 a0002c0034 a0017c0015	a0001c0001t0001 a0002c0003t0001 a0002c0008t0001 others(3): Show a0001c0001t0001 a0002c0003t0001 a0002c0008t0001 a0002c0030t0001 a0002c0034t0001 a0017c0015t0001	a0001c0001t0001g0111 a0002c0003t0001g0013 a0002c0003t0001g0064 others(17): Show a0001c0001t0001g0111 a0002c0003t0001g0013 a0002c0003t0001g0064 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0104 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0008t0001g0108 a0002c0008t0001g0266 a0002c0030t0001g0107 a0002c0034t0001g0113 a0017c0015t0001g0114	21	382	0.0550	311	c.270 others(326): Show c.270+283_270+284insATCCCACCCCTGCACCCCTCCCATCCCACC TCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCC TGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCT TCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCG TCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCT CCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCAC CCCACCCTTGCACCCCTCCTCCCTCTTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPAS3_chr14_32933879_33809173	33743023	T T	TCCACTGA others(304): Show TCCACTGAAGTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA20300.hp1 HG02258.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0055 a0002c0002t0028 a0002c0002t0055	a0002c0002t0028g0031 a0002c0002t0055g0046 a0002c0002t0028g0031 a0002c0002t0055g0046	2	92	0.0217	311	c.852 others(328): Show c.852+7704_852+7705insTTTTTTTTTTTTTTTTGAGACAGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCCCACTGAAGTCTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NR3C2_chr4_148073764_148447414	148337309	T T	TAAAAATA others(304): Show TAAAAATAAGAAACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	170	0.0059	311	c.175 others(332): Show c.1758-77193_1758-77192insTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAGTTTCTTATTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NRG3_chr10_81870194_82992178	82800422	T T	TGACTTAG others(304): Show TGACTTAGCTTTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCATGCCATTCCCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	66	0.0152	311	c.102 others(332): Show c.1027+61789_1027+61790insTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCATGCCATTCCCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGACTTAGCTTTATTTTT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(304): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT ATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTATA TATATAATATATATAATATATATTATATATATAAAGTATATATATAATAT ATATAATATATATTATATATAAAGTATATATATAATATATATTATATATA AAGTATATATATAATATATATTATATATATATAAAATATATAATATATAT TATATATATAAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03669.hp1 NA18939.hp2 others(10): Show HG02135.hp2 HG03669.hp1 NA18939.hp2 NA18944.hp1 NA18984.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19084.hp1 NA19085.hp1 NA20752.hp2 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0004 a0002c0013 a0003c0027 a0002c0004 a0002c0013 a0003c0027	a0002c0004t0001 a0002c0004t0015 a0002c0013t0001 others(1): Show a0002c0004t0001 a0002c0004t0015 a0002c0013t0001 a0003c0027t0001	a0002c0004t0001g0111 a0002c0004t0001g0119 a0002c0004t0001g0120 others(10): Show a0002c0004t0001g0111 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0001g0121 a0002c0004t0001g0122 a0002c0004t0001g0123 a0002c0004t0001g0156 a0002c0004t0001g0214 a0002c0004t0001g0221 a0002c0004t0001g0284 a0002c0004t0015g0109 a0002c0013t0001g0191 a0003c0027t0001g0056	13	308	0.0422	311	c.730 others(328): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATATATTATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATAATATATATTATATATATTATA TATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(304): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02004.hp1 HG06807.hp2 HG01192.hp2 HG02004.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0068 a0003c0003t0003g0189 a0003c0003t0003g0190 a0001c0001t0001g0068 a0003c0003t0003g0189 a0003c0003t0003g0190	3	360	0.0083	311	c.-30 others(322): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUP160_chr11_47773118_47853350	47785088	T T	TGAGTTTC others(304): Show TGAGTTTCAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03654.hp1 HG00642.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0107 a0002c0002t0001g0119 a0002c0002t0001g0107 a0002c0002t0001g0119	2	338	0.0059	311	c.374 others(326): Show c.3747-26_3747-25insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAATCTGAAACTC	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	32/35			chr11	TogoVar
NXN_chr17_794310_984776	841443	T T	TCCCCCCT others(304): Show TCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACC ACAGCGCATCTCATGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCT CACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCATGCCGGCGAG CAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCC TGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCCGACCACAGCG CATCTCATGCCGGCGAGCAGGTCCCCCCCGACCACAGCGCATCTCATGCC GGCGAGCAGGTC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	242	0.0041	311	c.361 others(330): Show c.361-15366_361-15365insGACCTGCTCGCCGGCATGAGATGCGC TGTGGTCGGGGGGGACCTGCTCGCCGGCATGAGATGCGCTGTGGTCGGGG GGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTC GCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCATGAG ATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGGGGACCTGCTCGCCGGCATGAGATGCGCTGTGGTCGGGGGGACCT GCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODF3L2_chr19_458361_479983	467189	C C	CGGGTGGA others(304): Show CGGGTGGAAAGATGGTTGGTGGAGGGTGGATGGACGGGTGGATAGATGGT TGGGTGGAGGGTGGATGGGCGGGTGGATAGATGGATGGGTGGGTGGTTGG GTGGGTGGGTAGATGGATGAGTGTATGGACGGGTGGATAGATGGTTGGGT GGAGGGTGGAAGGATGGGTGAATAGATGGATGGGTGGGTGGGTGGGTGGA TGGATGAGTGGATGGACGGGTGGATAGATAGTTGGGTGGAGGGTGGATGG GCGGGTGGATAGATGGATGGGTGGGTGGTTGGGTGGGTGGGTGGATGGAT GAATGGATGGAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	324	0.0031	311	c.349 others(326): Show c.349+459_349+460insATCCATCCATTCATCCATCCACCCACCCAC CCAACCACCCACCCATCCATCTATCCACCCGCCCATCCACCCTCCACCCA ACTATCTATCCACCCGTCCATCCACTCATCCATCCACCCACCCACCCACC CATCCATCTATTCACCCATCCTTCCACCCTCCACCCAACCATCTATCCAC CCGTCCATACACTCATCCATCTACCCACCCACCCAACCACCCACCCATCC ATCTATCCACCCGCCCATCCACCCTCCACCCAACCATCTATCCACCCGTC CATCCACCCTCCACCAACCATCTTTCCACCC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	3/3			chr19	TogoVar
ODF3L2_chr19_458361_479983	467189	C C	CGGGTGGA others(304): Show CGGGTGGAAAGATGGTTGGTGGAGGGTGGATGGACGGGTGGATAGATGGT TGGGTGGAGGGTGGATGGGCGGGTGGATAGATGGATGGGTGGGTGGTTGG GTGGGTGGGTAGATGGATGAGTGTATGGACGGGTGGATAGATGGTTGGGT GGAGGGTGGAAGGATGGGTGGATAGATGGATGGGTGGGTGGGTGGGTGGA TGGATGAGTGGATGGACGGGTGGATAGATAGTTGGGTGGAGGGTGGATGG GCGGGTGGATAGATGGATGGGTGGGTGGGTGGGTGGGTGGGTGGATGGAT GAATGGATGGAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02055.hp2 HG02572.hp1 HG01978.hp1 HG02055.hp2 HG02572.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0029 a0003c0004t0001g0079 a0001c0001t0001g0029 a0003c0004t0001g0079	3	324	0.0093	311	c.349 others(326): Show c.349+459_349+460insATCCATCCATTCATCCATCCACCCACCCAC CCACCCACCCACCCATCCATCTATCCACCCGCCCATCCACCCTCCACCCA ACTATCTATCCACCCGTCCATCCACTCATCCATCCACCCACCCACCCACC CATCCATCTATCCACCCATCCTTCCACCCTCCACCCAACCATCTATCCAC CCGTCCATACACTCATCCATCTACCCACCCACCCAACCACCCACCCATCC ATCTATCCACCCGCCCATCCACCCTCCACCCAACCATCTATCCACCCGTC CATCCACCCTCCACCAACCATCTTTCCACCC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	3/3			chr19	TogoVar
ODF3L2_chr19_458361_479983	467189	C C	CGGGTGGA others(304): Show CGGGTGGAAAGATGGTTGGTGGAGGGTGGATGGACGGGTGGATAGATGGT TGGGTGGAGGGTGGATGGGCGGGTGGATAGATGGATGGGTGGGTGGTTGG GTGGGTGGGTAGATGGATGAGTGTATGGACGGGTGGATAGATGGTTGGGT GGAGGGTGGAAGGATGGGTGGATAGATGGATGGGTGGGTGGGTGGGTGGA TGGATGAGTGGATGGACGGGTGGATAGATAGTTGGGTGGAGGGTGGATGG GCGGGTGGATAGATGGATGGGTGGGTGGTTGGGTGGGTGGGTGGATGGAT GAATGGATGGAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp2 others(98): Show HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02723.hp1 HG02735.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA18997.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA20300.hp2 NA20752.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0005 a0003c0004 others(1): Show a0001c0001 a0001c0005 a0003c0004 a0007c0011	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0003c0004t0001 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0033 others(34): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0005g0123 a0001c0005t0001g0007 a0001c0005t0001g0021 a0001c0005t0001g0148 a0003c0004t0001g0014 a0003c0004t0001g0071 a0003c0004t0001g0117 a0003c0004t0001g0118 a0007c0011t0001g0019 a0007c0011t0001g0115	101	324	0.3117	311	c.349 others(326): Show c.349+459_349+460insATCCATCCATTCATCCATCCACCCACCCAC CCAACCACCCACCCATCCATCTATCCACCCGCCCATCCACCCTCCACCCA ACTATCTATCCACCCGTCCATCCACTCATCCATCCACCCACCCACCCACC CATCCATCTATCCACCCATCCTTCCACCCTCCACCCAACCATCTATCCAC CCGTCCATACACTCATCCATCTACCCACCCACCCAACCACCCACCCATCC ATCTATCCACCCGCCCATCCACCCTCCACCCAACCATCTATCCACCCGTC CATCCACCCTCCACCAACCATCTTTCCACCC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	3/3			chr19	TogoVar
OR10H1_chr19_15799549_15820664	15817125	C C	CAAAAGAA others(304): Show CAAAAGAATGGAAAAGGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18955.hp2 NA18984.hp1 others(2): Show NA18941.hp1 NA18955.hp2 NA18984.hp1 NA18985.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009	a0001c0001t0002g0012 a0001c0001t0002g0024 a0001c0001t0002g0127 others(2): Show a0001c0001t0002g0012 a0001c0001t0002g0024 a0001c0001t0002g0127 a0001c0001t0008g0205 a0001c0001t0009g0206	5	398	0.0126	311	c.-23 others(322): Show c.-2349_-2348insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAACGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCCTCCTTTTCCATTCTTTT	OR10H1	ENSG00000186723.4	transcript	ENST00000641419.1	protein_coding		1462		chr19	TogoVar
OR5T1_chr11_56269154_56281819	56274110	T T	TAAGAATT others(304): Show TAAGAATTCAAATGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0009 a0001c0002t0004g0009	1	379	0.0026	311	c.-33 others(320): Show c.-334_-333insAAGAATTCAAATGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	OR5T1	ENSG00000181698.5	transcript	ENST00000641665.1	protein_coding		43		chr11	TogoVar
OTOF_chr2_26452203_26483124	26476489	C C	CCCTTCCC others(304): Show CCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCC ACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCAC CTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCC CTTCCCCCACGT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0159 a0001c0005t0001g0159	1	330	0.0030	311	c.436 others(326): Show c.436-173_436-172insACGTGGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG GAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGA AGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAG GGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGG GTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTG GGGAAGGAGGTGGGGGAAGGGGTGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476489	C C	CCCTTCCC others(304): Show CCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCC ACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCAC CTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCC CTTCCCCCACGT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0066 a0001c0014t0001g0066	1	284	0.0035	311	c.267 others(328): Show c.2677-173_2677-172insACGTGGGGGAAGGGGTGGGGAAGGAGGT GGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGG GAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGA AGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAG GGGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGG TGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
PADI2_chr1_17061761_17124451	17114628	T T	TAAGAAAC others(304): Show TAAGAAACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp2 NA19030.hp2 HG01891.hp1 HG02886.hp2 NA19030.hp2	a0001 a0001	a0001c0010 a0001c0040 a0001c0010 a0001c0040	a0001c0010t0007 a0001c0040t0034 a0001c0010t0007 a0001c0040t0034	a0001c0010t0007g0337 a0001c0010t0007g0339 a0001c0040t0034g0338 a0001c0010t0007g0337 a0001c0010t0007g0339 a0001c0040t0034g0338	3	356	0.0084	311	c.92+ others(326): Show c.92+4651_92+4652insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCATCGTTTCTT	PADI2	ENSG00000117115.13	transcript	ENST00000375486.9	protein_coding	1/15			chr1	TogoVar

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Search Results (Total: 10000 hits)