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
MCOLN2_chr1_84920583_85002113	84987509	T T	TATACATA others(297): Show TATACATATATACATATATACATATATGTATATATAGATATATATACATA TATACATATATGTATATACCTATATACATATATAGATATATACATATGTA TATATGTATATAGATATACATACATAGATATATACATATATGTATATATA TACATATATGTATATCTATATACATATATGTATATATATACATATATGTA TATATATACATATATGTATATATCGATATATACATATATGTATATATCTA TATATACATATATGTATATATAGATATATACATATATGTATATATCGATA TATAC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	350	0.0029	304	c.77+ others(319): Show c.77+9286_77+9287insGTATATATCGATATATACATATATGTATAT ATCTATATATACATATATGTATATATAGATATATACATATATGTATATAT CGATATATACATATATGTATATATATACATATATGTATATATATACATAT ATGTATATAGATATACATATATGTATATATATACATATATGTATATATCT ATGTATGTATATCTATATACATATATACATATGTATATATCTATATATGT ATATAGGTATATACATATATGTATATATGTATATATATCTATATATACAT ATATGTATATATGTATATATGTAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MECOM_chr3_169078507_169668712	169427196	T T	TAAAAATT others(297): Show TAAAAATTATGATGTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGACTCAA AAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02886.hp2 others(4): Show HG02109.hp1 HG02572.hp2 HG02886.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0013 a0001c0001 a0001c0008 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0040 a0001c0008t0003 a0004c0013t0002	a0001c0001t0001g0056 a0001c0001t0002g0083 a0001c0001t0005g0103 others(4): Show a0001c0001t0001g0056 a0001c0001t0002g0083 a0001c0001t0005g0103 a0001c0001t0006g0125 a0001c0001t0040g0105 a0001c0008t0003g0036 a0004c0013t0002g0074	7	160	0.0438	304	c.38- others(321): Show c.38-45673_38-45672insTTTTTTTGAGTCGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCAAACATCATAATTTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(297): Show TTTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0103 a0005c0005t0001g0103	1	181	0.0055	304	c.107 others(323): Show c.1073+5154_1073+5155insCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MIPEP_chr13_23725189_23894400	23802688	A A	AAAGATTT others(297): Show AAAGATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACTGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	306	0.0033	304	c.184 others(323): Show c.1848+3261_1848+3262insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCAGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATCTT	MIPEP	ENSG00000027001.10	transcript	ENST00000382172.4	protein_coding	16/18			chr13	TogoVar
MKKS_chr20_10396009_10439222	10397258	T T	TAAAAAAG others(297): Show TAAAAAAGAACATAGTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCCGTCTCAAAA AAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00597.hp1 others(48): Show HG00423.hp2 HG00544.hp1 HG00597.hp1 HG01255.hp2 HG01978.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02129.hp2 HG02155.hp2 HG02257.hp1 HG02559.hp1 HG02602.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp2 HG03516.hp1 HG03654.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp2 NA18966.hp2 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18992.hp1 NA18994.hp1 NA18998.hp2 NA19001.hp2 NA19003.hp1 NA19006.hp2 NA19010.hp1 NA19055.hp2 NA19059.hp2 NA19062.hp2 NA19064.hp2 NA19070.hp1 NA19075.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0004 a0001c0003 a0002c0002 a0003c0004	a0001c0003t0030 a0002c0002t0003 a0002c0002t0010 others(5): Show a0001c0003t0030 a0002c0002t0003 a0002c0002t0010 a0002c0002t0022 a0002c0002t0023 a0002c0002t0026 a0002c0002t0027 a0003c0004t0014	a0001c0003t0030g0068 a0002c0002t0003g0011 a0002c0002t0003g0027 others(45): Show a0001c0003t0030g0068 a0002c0002t0003g0011 a0002c0002t0003g0027 a0002c0002t0003g0078 a0002c0002t0003g0141 a0002c0002t0003g0169 a0002c0002t0003g0189 a0002c0002t0003g0224 a0002c0002t0003g0233 a0002c0002t0003g0235 a0002c0002t0003g0236 a0002c0002t0003g0237 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0241 a0002c0002t0003g0243 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0250 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0253 a0002c0002t0003g0256 a0002c0002t0003g0257 a0002c0002t0003g0259 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0263 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0267 a0002c0002t0003g0270 a0002c0002t0003g0290 a0002c0002t0010g0231 a0002c0002t0010g0232 a0002c0002t0022g0275 a0002c0002t0023g0234 a0002c0002t0026g0242 a0002c0002t0027g0244 a0003c0004t0014g0271 a0003c0004t0014g0272 a0003c0004t0014g0273	51	390	0.1308	304	c.79 others(315): Show c.7988_*7989insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCACTATGTTCTTTTTT	MKKS	ENSG00000125863.20	transcript	ENST00000347364.7	protein_coding		3750		chr20	TogoVar
MMD2_chr7_4900998_4964187	4959821	G G	GGGTGGAG others(297): Show GGGTGGAGGGAGTGGAAAGTGGGGGGTTGGGGGGAGTGGGGGACCTGGGG GTGGAGGAAGTGGGGGGGTTCGTGGGAAAGAAGGGGACCTGGAGGTGGAG GGAGTGGGAAGTCGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAG AGAGGGACTTGGAGGTTGGGGGGAGGTGGGAAGTGGGGGTGTTGGAGGGA GTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGG AGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGGAGTGGG GAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0323 a0001c0001t0004g0323	1	382	0.0026	304	c.-80 others(313): Show c.-805_-804insACTTCCCCACTCCCCCCAACCTCCAAGTCCCTCTCT TCCCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCC CCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACCTCCCC CCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAA CACCCCGACTTCCCACTCCCTCCACCTCCAGGTCCCCTTCTTTCCCACGA ACCCCCCCACTTCCTCCACCCCCAGGTCCCCCACTCCCCCCAACCCCCCA CTTTCCACTCCCTCCACC	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		635		chr7	TogoVar
MS4A4E_chr11_60195270_60248137	60206479	A A	ATATATAT others(297): Show ATATATATATGTATATATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATGTATATATATGTATATATATGTATATATATGTAT ATATATGTGTATATATGTATATATATGTATATATATGTATATATATATGT GTATATATATGTATATATATGTATATATATATGTGTATATATATGTATAT ATATGTATATATATGTATATATATGTATATATATATGTATATATATGTAT ATATATATGTATATATATATGTATATATATGTATATATATATGTGTATAT ATATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp1 NA20300.hp1 HG02451.hp2 HG03041.hp1 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0160 a0004c0005t0002g0163 a0004c0005t0002g0167 a0004c0005t0002g0160 a0004c0005t0002g0163 a0004c0005t0002g0167	3	410	0.0073	304	c.484 others(319): Show c.484-660_484-659insCATATATATACACATATATATATACATATA TATACATATATATATACATATATATATACATATATATACATATATATATA CATATATATACATATATATACATATATATACATATATATACACATATATA TATACATATATATACATATATATACACATATATATATACATATATATACA TATATATACATATATACACATATATATACATATATATACATATATATACA TATATATACATATATACATATATATACATATATATATACATATATATATA CATATATATATATACATATATATA	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSH4_chr1_75791882_75918242	75885818	A A	ATTATATA others(297): Show ATTATATATTATAATATATATACCTGATATATTTAAGGTATTATATATAA TACCTTATATATTATATATATAATACCTTATAAGGTATTATATATAATAT TATATATTATATATAATATATATATTATATATAATATATAAATGTATATA TTATATATTATACATATATATTATATACATATATTATATATAATATATAT TTTATATATTATATATGTATATATGTAATATATATAACCTTCACATTTAT TTCAGTTATATAATGTGAAGGTAATATATATATGTTATTTTGTGTATATA TAAAG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	332	0.0030	304	c.210 others(323): Show c.2107+1998_2107+1999insTATATATTATAATATATATACCTGAT ATATTTAAGGTATTATATATAATACCTTATATATTATATATATAATACCT TATAAGGTATTATATATAATATTATATATTATATATAATATATATATTAT ATATAATATATAAATGTATATATTATATATTATACATATATATTATATAC ATATATTATATATAATATATATTTTATATATTATATATGTATATATGTAA TATATATAACCTTCACATTTATTTCAGTTATATAATGTGAAGGTAATATA TATATGTTATTTTGTGTATATATAAAGT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	AAATATAT others(297): Show AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT ATTATATATAATATATATTATATTATATATAATATATATTATATATAATA TATATTATATTATATATAATATATATTATATAATATATATTATATAAAAT ATGTATTATATTATATATAATATATATTTTATAAAATATATATTATATTA TATTATATATATTTTATAAAATATATATTATATTATATATAATATATATT TTATAAAATATATATTATATTATATAATATATATTATATAAAATATATAT TATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	368	0.0027	304	c.51 others(315): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT AATATAATATATATTTTATAAAATATATATTATATATAATATAATATATA TTTTATAAAATATATATAATATAATATAATATATATTTTATAAAATATAT ATTATATATAATATAATACATATTTTATATAATATATATTATATAATATA TATTATATATAATATAATATATATTATATATAATATATATTATATATAAT ATAATATATATTATATATAATATAATATATATTTTATATAATATATATTA TATATAATATAATATATATT	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(297): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGAGGGAGGAGGGA GGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAGG GAGGAGAGAGGAGGGAGGGAGGAGGGAGGGAGGAGGAAGGAGGAGAGAGG AGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGGAGGGAGGAGGGAGGGGGA GGGAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp1 HG01993.hp2 HG01074.hp1 HG01167.hp1 HG01993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0282 a0001c0003t0001g0296 a0001c0003t0001g0328 a0001c0003t0001g0282 a0001c0003t0001g0296 a0001c0003t0001g0328	3	348	0.0086	304	c.887 others(321): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CTCCTCCCTCCCCCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCC TCCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCTCCCTCCTCTC TCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCT CCTCCCGCCCTCCTGCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCC TCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTTCCCTC CTTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NCAPG2_chr7_158626169_158709804	158667329	G G	GCTCCTTA others(297): Show GCTCCTTAGCCACTACCGGATCCCTCCGCCCTCCTTACCCACTACCGGGT CCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCA CTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCT CCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTA CTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	378	0.0027	304	c.148 others(323): Show c.1480-2580_1480-2579insTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCGGTAGTGGGTAAGGAGG GCGGAGGGATCCGGTAGTGGCTAAGGAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDUFA3_chr19_54097855_54112568	54109796	C C	CCTCCACC others(297): Show CCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGC CCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTC CCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGC CCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCG GCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGCCCTCCCTCAG TCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCA GCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	439	0.0023	304	c.28 others(315): Show c.2894_*2895insCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAG CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCAC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCAC CCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCT CAGTCCCAGTGCTCAGCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2229		chr19	TogoVar
NDUFB4_chr3_120591336_120607507	120600105	T T	TAAGGTTT others(297): Show TAAGGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	424	0.0024	304	c.181 others(319): Show c.181-991_181-990insTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCAAGGTTTTTTTTTTT	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(297): Show CAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCG AGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAA AAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	376	0.0027	304	c.98 others(313): Show c.980_*981insTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTG GAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTTTTTTTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NEFM_chr8_24908761_24924093	24921587	T T	TAAGAACA others(297): Show TAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	430	0.0023	304	c.29 others(315): Show c.2981_*2982insAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGA GATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	NEFM	ENSG00000104722.14	transcript	ENST00000221166.10	protein_coding		2495		chr8	TogoVar
NEK7_chr1_198151998_198327420	198274158	T T	TTCTAGTT others(297): Show TTCTAGTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	346	0.0029	304	c.373 others(321): Show c.373-3791_373-3790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGTCTAGTTCTCTT	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(297): Show CTGTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTAC AGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATG TATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTA TGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATG TATACTGTATATATACACTATACAGTATGTATACTGTATATATACACACA GTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACA CAGTA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0206 a0001c0004t0003g0206	1	362	0.0028	304	c.-75 others(323): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACATACAGTATACATACATACA GTATACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTA CACAGTATACATGCTGTACATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCCCC others(297): Show CCCCCCCCTCTCCCCCCCCTCTCCCCCCCCTCCCCCACCTCTCCCCCCTC TCCCCCCCTCCCCCCCTCCCCCCCTCCCCCCCTCCCCCCCTCCCCCCCTC CCCCCCTCCCCCCCTCCCCCCCCCTCCCCCTCCCCCCTCTCCCCCTCCCC CCTCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCCCCTCCCCCCCCCTCC CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCT CCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0127 a0001c0005t0008g0127	1	350	0.0029	304	c.55 others(315): Show c.5595_*5596insCCCCCCCTCTCCCCCCCCTCTCCCCCCCCTCCCC CACCTCTCCCCCCTCTCCCCCCCTCCCCCCCTCCCCCCCTCCCCCCCTCC CCCCCTCCCCCCCTCCCCCCCTCCCCCCCTCCCCCCCCCTCCCCCTCCCC CCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCC CCTCCCCCCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(297): Show CCCCCATCCCACCCCTGCCCCCCCTCCCATCCCACCTCTAAACCCCTCCT CCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAA CCCCTCCTCCCTGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCAC CCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTC CCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATC CCTGCACCCCTCCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCC CTCTG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	382	0.0026	304	c.270 others(319): Show c.270+283_270+284insATCCCACCCCTGCCCCCCCTCCCATCCCAC CTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCC CTGTCCCCCTCTAAACCCCTCCTCCCTGTCCCCCTCTAAACCCCTCCTCC CTCTCCCCATCCCACCCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACG CCTGTACTCCTCCTCCCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCC TCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCCCCCGTCCCACCC CTAAACCCCTCCTCCCTCTGCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(297): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAG TGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGG GTGCATGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATG GGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGG GTGCA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0003 a0004c0021t0003	a0004c0021t0003g0206 a0004c0021t0003g0206	1	324	0.0031	304	c.140 others(321): Show c.140+8514_140+8515insTGCACCCATTGCCCCAGGAGGGATCCTG AGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGA GTGCTCCCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGGGATCCTG AGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(297): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCC CCTTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTCCCCCTCCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC CCTCC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0068 a0001c0001t0006g0068	1	326	0.0031	304	c.433 others(321): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGG AGGGGGAGGGGAGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGG GAGGGGAGGGGGGAGGGGGAGGGGAGGGAGGGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(297): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC CCTCC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0087 a0001c0001t0033g0087	1	326	0.0031	304	c.433 others(321): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(297): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC GATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0141 a0004c0004t0001g0141	1	360	0.0028	304	c.-30 others(315): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUP133_chr1_229435259_229513341	229486322	T T	TAAAAAAT others(297): Show TAAAAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp2 NA18522.hp2 HG02886.hp2 HG03225.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0006 a0003c0003t0002 a0003c0003t0006	a0003c0003t0002g0119 a0003c0003t0006g0126 a0003c0003t0006g0130 a0003c0003t0002g0119 a0003c0003t0006g0126 a0003c0003t0006g0130	3	276	0.0109	304	c.150 others(319): Show c.1500+48_1500+49insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCTGTTATTTATTTTTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(297): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0129 a0003c0003t0006g0129	1	276	0.0036	304	c.150 others(319): Show c.1500+45_1500+46insATTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
OMP_chr11_77097840_77108331	77098708	G G	GCGGCTGG others(297): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGG ACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	440	0.0023	304	c.-41 others(315): Show c.-4132_-4131insCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGGTGGCTGG CCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCG CCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGCA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4131		chr11	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(297): Show TTATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTAT ATATATTTATAAATATAGATATATCTATATTTATATATATATATAAATAT AGATATATCTATATTTATATATATTTATAAATATAGATATATCTATATTT ATATATATTTATAAATATAGATATATCTATATTTATATATATTTATAAAT ATAGATATATCTATATTTATATATATTTATAAATATAGATATATCTATAT TTACATATATATAAATATAGATATATCTATATTTATATATATTTATAAAT ATAGA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18955.hp2 NA18968.hp2 others(5): Show NA18948.hp1 NA18955.hp2 NA18968.hp2 NA18975.hp1 NA19010.hp2 NA19054.hp1 NA19056.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0344 others(5): Show a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0387 a0001c0001t0004g0128 a0001c0001t0004g0129	8	418	0.0191	304	c.553 others(319): Show c.553-996_553-995insTATTTATAAATATAGATATATCTATATTTA TATATATTTATAAATATAGATATATCTATATTTATATATATATATAAATA TAGATATATCTATATTTATATATATTTATAAATATAGATATATCTATATT TATATATATTTATAAATATAGATATATCTATATTTATATATATTTATAAA TATAGATATATCTATATTTATATATATTTATAAATATAGATATATCTATA TTTACATATATATAAATATAGATATATCTATATTTATATATATTTATAAA TATAGATATATCTATATTTATATA	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(297): Show TTATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTAT ATATATTTATAAATATAGATATATCTATATTTATATATATTTATAAATAT AGATATATCTATATTTATATATATTTATAAATATAGATATATCTATATTT ATATATATTTATAAATATAGATATATCTATATTTATATATATTTATAAAT ATAGATATATCTATATTTATATATATTTATAAATATAGATATATCTATAT TTACATATATATAAATATAGATATATCTATATTTATATATATTTATAAAT ATAGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01243.hp1 HG02015.hp1 others(17): Show HG00597.hp1 HG01243.hp1 HG02015.hp1 HG02602.hp2 HG02922.hp1 HG03041.hp2 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03704.hp1 NA18942.hp2 NA18944.hp1 NA18972.hp2 NA19002.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19077.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0002t0004 a0001c0005t0004 a0001c0007t0001 a0001c0011t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 others(16): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0170 a0001c0001t0001g0217 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0324 a0001c0001t0001g0329 a0001c0001t0001g0334 a0001c0001t0001g0345 a0001c0001t0001g0388 a0001c0001t0004g0262 a0001c0001t0010g0275 a0001c0002t0004g0230 a0001c0002t0004g0273 a0001c0005t0004g0007 a0001c0007t0001g0091 a0001c0011t0001g0328	20	418	0.0479	304	c.553 others(319): Show c.553-996_553-995insTATTTATAAATATAGATATATCTATATTTA TATATATTTATAAATATAGATATATCTATATTTATATATATTTATAAATA TAGATATATCTATATTTATATATATTTATAAATATAGATATATCTATATT TATATATATTTATAAATATAGATATATCTATATTTATATATATTTATAAA TATAGATATATCTATATTTATATATATTTATAAATATAGATATATCTATA TTTACATATATATAAATATAGATATATCTATATTTATATATATTTATAAA TATAGATATATCTATATTTATATA	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(297): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATATAT ATTTATAAATATAGATATATCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATAAATATATATATAGATATATCTATATTTATATATAT TTATAAATAGATATATCTATATTTACATATATATATAAATATAGATATAT CTATATATATATTTATAAATATAGATATATCTATATATATATTTATAAAT ATAGA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01261.hp2 HG01433.hp2 HG01169.hp2 HG01261.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090	3	418	0.0072	304	c.553 others(319): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATAT ATATTTATAAATATAGATATATCTATATTTATATATATTTATAAATATAG ATATATCTATATTTATAAATATATATATAGATATATCTATATTTATATAT ATTTATAAATAGATATATCTATATTTACATATATATATAAATATAGATAT ATCTATATATATATTTATAAATATAGATATATCTATATATATATTTATAA ATATAGATATATCTATATTTATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OSGIN1_chr16_83948240_83971332	83950471	A A	ACACGTAC others(297): Show ACACGTACACGCACACATGAGCACATGTGCACACATGCACATACATACTG GCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCAC ATACACACTGGCACACACGTACACACACATGCACACATGATCACATGTGC ACACATGCACATACATACCGGCACACGTACACACATGCACACATGAACAC ATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	304	c.-29 others(315): Show c.-2932_-2931insCACGTACACGCACACATGAGCACATGTGCACACA TGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACA TGTGCACACATGCACATACACACTGGCACACACGTACACACACATGCACA CATGATCACATGTGCACACATGCACATACATACCGGCACACGTACACACA TGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2768		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950471	A A	ACACGTAC others(297): Show ACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTG GCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCAC ATACACACTGCCACACACGTACACACACATGCACACATGATCACATGTGC ACACATGCACATACATACCGGCACACGTACACACATGCACACATGAACAC ATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	304	c.-29 others(315): Show c.-2932_-2931insCACGTACATGCACACATGAGCACATGTGCACACA TGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACA TGTGCACACATGCACATACACACTGCCACACACGTACACACACATGCACA CATGATCACATGTGCACACATGCACATACATACCGGCACACGTACACACA TGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2768		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950471	A A	ACACGTAC others(297): Show ACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTG GCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCAC ATACACACTGGCACACACGTACACACACATGCACACATGATCACATGTGC ACACATGCACATACATACCGGCACACGTACACACATGCACACATGAACAC ATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG01975.hp1 others(9): Show HG00609.hp1 HG00621.hp2 HG01975.hp1 HG02273.hp1 NA18950.hp1 NA18959.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA19057.hp1 NA19079.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0004 a0001c0003t0004	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0004g0046 a0001c0002t0001g0054 a0001c0002t0004g0097 a0001c0003t0004g0017	12	350	0.0343	304	c.-29 others(315): Show c.-2932_-2931insCACGTACATGCACACATGAGCACATGTGCACACA TGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACA TGTGCACACATGCACATACACACTGGCACACACGTACACACACATGCACA CATGATCACATGTGCACACATGCACATACATACCGGCACACGTACACACA TGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2768		chr16	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(297): Show CTTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTGCTTTCT TGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTG CTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCT TTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTT CTTGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0015 a0001c0003t0003g0015	1	366	0.0027	304	c.487 others(321): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTGCTTTCTTTCTTT CTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCT TGCTTGCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTT CTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTT CTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCT TTCTTGCTTTCTTTCTTTCTTGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(297): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCT TGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTG CTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCT TTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTT CTTGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03688.hp2 NA19000.hp1 others(1): Show HG01255.hp2 HG03688.hp2 NA19000.hp1 NA19054.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0011 a0001c0003t0003 a0001c0003t0011	a0001c0003t0003g0039 a0001c0003t0003g0040 a0001c0003t0003g0195 others(1): Show a0001c0003t0003g0039 a0001c0003t0003g0040 a0001c0003t0003g0195 a0001c0003t0011g0358	4	366	0.0109	304	c.487 others(321): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTGCTTT CTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCT TGCTTGCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTT CTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTT CTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCT TTCTTGCTTTCTTTCTTTCTTGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(297): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCT TGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTG CTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCT TTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTT CTTGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0192 a0001c0003t0003g0192	1	366	0.0027	304	c.487 others(321): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCT TGCTTGCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTT CTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTT CTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCT TTCTTGCTTTCTTTCTTTCTTGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(297): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCT TGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTG CTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCT TTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTT CTTGT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0136 a0001c0003t0003g0136	1	366	0.0027	304	c.487 others(321): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCT TGCTTGCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTT CTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTT CTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCT TTCTTGCTTTCTTTCTTTCTTGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(297): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG GGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGG GGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGG GAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAG GGAAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	302	0.0033	304	c.155 others(321): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCC CTCCCCTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PANX2_chr22_50165731_50185295	50168582	C C	CGGGTGAA others(297): Show CGGGTGAATAGGTTATGTGAGAGGTGACCGGGTTATTTGGGAGGTGACTG GTTTATCTGGCAGTGACTGGGTTATCTGGGGTGAATAGATTATGTGAGGG GTGCCCGGGTTATTTGGGGTGATTGGTTTATCTGGCAGTGACTGGGTTAT CTGGGGTGAATAGGTTATGTGAGGGGTGCCCGGGTTATTTGGGAGGTGAC TGGTTTATCTGGCAGTGACTGGGTTATCTGGGGTGAATAGATTATGTGAG GGGTGCCCGGGTTATTTGGGGTGATTGGTTTATCTGGCAGTGACTGGGTT ATCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0001 a0001c0001t0023g0001	1	440	0.0023	304	c.-21 others(315): Show c.-2149_-2148insGGGTGAATAGGTTATGTGAGAGGTGACCGGGTTA TTTGGGAGGTGACTGGTTTATCTGGCAGTGACTGGGTTATCTGGGGTGAA TAGATTATGTGAGGGGTGCCCGGGTTATTTGGGGTGATTGGTTTATCTGG CAGTGACTGGGTTATCTGGGGTGAATAGGTTATGTGAGGGGTGCCCGGGT TATTTGGGAGGTGACTGGTTTATCTGGCAGTGACTGGGTTATCTGGGGTG AATAGATTATGTGAGGGGTGCCCGGGTTATTTGGGGTGATTGGTTTATCT GGCAGTGACTGGGTTATCTG	PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding		2148		chr22	TogoVar
PARL_chr3_183824271_183889880	183870210	A A	AGAGGTTG others(297): Show AGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCATTCCAGCCTGGGAGAC AAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGTCTAGGCTGGGCAC AGCGACTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGA TCACCTAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACACTGGGAAACCC TGACTCTACTAAGAATACAAAAATTAGCTGGGCGTGATGGTGTACACCTG TAATCTCAGCTACTCGCGAGGCTGACGCATGAGAAGTGCTTGAACCCGGG AAGTG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02055.hp1 HG02257.hp1 others(14): Show HG01358.hp2 HG02055.hp1 HG02257.hp1 HG02602.hp1 HG02818.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG06807.hp2 NA18906.hp1 NA18985.hp2 NA19030.hp2 NA19043.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0015 a0001c0001t0001g0130 a0001c0001t0001g0164 others(13): Show a0001c0001t0001g0015 a0001c0001t0001g0130 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0219 a0002c0002t0001g0076	17	358	0.0475	304	c.126 others(321): Show c.126-2151_126-2150insCACTTCCCGGGTTCAAGCACTTCTCATG CGTCAGCCTCGCGAGTAGCTGAGATTACAGGTGTACACCATCACGCCCAG CTAATTTTTGTATTCTTAGTAGAGTCAGGGTTTCCCAGTGTTGGCCAGAC TGGTCTTGAACTCCTGACCTTAGGTGATCTGCCTGCCTCGGCCTCCCAAA ATGCTGGGATTACAGGTGTGAGTCGCTGTGCCCAGCCTAGACTTTTTTTT TTTTTTTTTGAGATGGAGTCTCGCTTTGTCTCCCAGGCTGGAATGCAGTG GCACAGTCTCGGCTCACTGCAACCTC	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PCDH15_chr10_53797771_54806231	54146907	G G	GTGTATAT others(297): Show GTGTATATATATAGTGTATATATATATAGTGTATATATATAGTGTATATA TATATAGTGTATATATATAGTGTATATATATATAATGTATATATATAGTG TATATATATATAATGTATATATAGTGTATATATATATAATGTATATATAT AGTGTATATATATATAATGTATATATATAGTGTATATATATATAATGTAT ATATATAGTGTATATATATAATGTATATATATAGTGTATATATATATAAT GTATATATATAGTGTATATATATATATAATGTATATATATAGTGTATATA TATAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0035 a0035	a0035c0025 a0035c0025	a0035c0025t0007 a0035c0025t0007	a0035c0025t0007g0079 a0035c0025t0007g0079	1	102	0.0098	304	c.178 others(323): Show c.1784+6192_1784+6193insTTATATATATACACTATATATATACA TTATATATATATATACACTATATATATACATTATATATATATACACTATA TATATACATTATATATATACACTATATATATACATTATATATATATACAC TATATATATACATTATATATATATACACTATATATATACATTATATATAT ATACACTATATATACATTATATATATATACACTATATATATACATTATAT ATATATACACTATATATATACACTATATATATATACACTATATATATACA CTATATATATATACACTATATATATACA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	14/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54146907	G G	GTGTATAT others(297): Show GTGTATATATATAGTGTATATATATATAGTGTATATATATAGTGTATATA TATATAGTGTATATATATAGTGTATATATATATAATGTATATATATAGTG TATATATATATAATGTATATATAGTGTATATATATATAATGTATATATAT AGTGTATATATATATAATGTATATATATAGTGTATATATATATAATGTAT ATATATAGTGTATATATATAATGTATATATATAGTGTATATATATATAAT GTATATATATAGTGTATATATATATATAATGTATATATATAGTGTATATA TATAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0031 a0031	a0031c0032 a0031c0032	a0031c0032t0001 a0031c0032t0001	a0031c0032t0001g0072 a0031c0032t0001g0072	1	94	0.0106	304	c.178 others(323): Show c.1784+6192_1784+6193insTTATATATATACACTATATATATACA TTATATATATATATACACTATATATATACATTATATATATATACACTATA TATATACATTATATATATACACTATATATATACATTATATATATATACAC TATATATATACATTATATATATATACACTATATATATACATTATATATAT ATACACTATATATACATTATATATATATACACTATATATATACATTATAT ATATATACACTATATATATACACTATATATATATACACTATATATATACA CTATATATATATACACTATATATATACA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	14/32			chr10	TogoVar
PDXK_chr21_43714129_43767299	43741165	G G	GGGGGGCT others(297): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTCGC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	358	0.0028	304	c.143 others(319): Show c.143-497_143-496insCTCGCGGGGGGCTCGCGGGGGGCTGGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43743497	T T	TTGCACCC others(297): Show TTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTCG CCTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTC GCCTGCACCCACCTCCTTCCCCCCAGCTCCCGAGCACTGTGGGGACACCC CGCCTGCACCCACCTCCCTCTCCCCCGCCCCCAGCACTGTGGGGACACCC CGCCTGCACCCACCTCCCTCTCCCCCGCCCCCAGCACTGTGGGGACACCT CACTTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACC TCGCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA21309.hp1 HG01167.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0067 a0001c0001t0017 a0001c0001t0067	a0001c0001t0017g0119 a0001c0001t0067g0118 a0001c0001t0017g0119 a0001c0001t0067g0118	2	358	0.0056	304	c.248 others(319): Show c.248-155_248-154insAGCCCCTGAGCACTGTGGGGACACCTCGCC TGCACCCACCTCCTTCCCCCCAGCTCCCGAGCACTGTGGGGACACCCCGC CTGCACCCACCTCCCTCTCCCCCGCCCCCAGCACTGTGGGGACACCCCGC CTGCACCCACCTCCCTCTCCCCCGCCCCCAGCACTGTGGGGACACCTCAC TTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTCG CCTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTC GCCTGCACCCACCTCCCTCCCCCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZRN4_chr12_41183320_41579745	41429793	T T	TCTTATTT others(297): Show TCTTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19056.hp1 NA18945.hp1 NA19056.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0070 a0003c0005t0001g0071 a0003c0005t0001g0070 a0003c0005t0001g0071	2	206	0.0097	304	c.844 others(323): Show c.844-76653_844-76652insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCTTATTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(297): Show ATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCGCCCGC CACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCGCCCGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT TTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0129 a0001c0003t0010g0129	1	228	0.0044	304	c.-38 others(323): Show c.-38-11576_-38-11575insGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGG CGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCG CCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(297): Show ATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCGCCCG CCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGGGTTTCA CCGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCGCCCGCC TTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC TTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0223 a0001c0003t0004g0223	1	228	0.0044	304	c.-38 others(323): Show c.-38-11575_-38-11574insGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGG CGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCG CCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(297): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAG GGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp2 others(53): Show HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02074.hp1 HG02129.hp2 HG02165.hp1 HG02273.hp2 HG02886.hp1 HG02965.hp1 HG03239.hp1 HG03688.hp2 HG03927.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18945.hp1 NA18979.hp1 NA18999.hp1 NA19009.hp1 NA19009.hp2 NA19065.hp1 NA19070.hp1 NA19081.hp1 NA19086.hp1 NA19240.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0036 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0138 a0001c0001t0002g0016 a0001c0001t0002g0040 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0016 a0001c0001t0003g0021 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0068 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0082 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0129 a0001c0002t0003g0112 a0001c0002t0004g0006	56	312	0.1795	304	c.53 others(315): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGG AAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(297): Show GGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGG GAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAG GGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	312	0.0032	304	c.53 others(315): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGAGGG GAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATA GGGGAGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGG AAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIR_chrX_15379799_15498333	15401360	G G	GTAAACCT others(297): Show GTAAACCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02818.hp1 others(6): Show HG01884.hp2 HG02280.hp2 HG02818.hp1 HG02965.hp1 HG03041.hp2 HG03209.hp1 HG03516.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 others(6): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0235 a0001c0001t0006g0236 a0001c0001t0006g0237	9	272	0.0331	304	c.611 others(321): Show c.611-3830_611-3829insTCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAGAAAGGTTTA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	7/9			chrX	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(297): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGAATAGGGGAGGGGAGAGGAGG GAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAG GGGAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0054 a0001c0006t0054	a0001c0006t0054g0014 a0001c0006t0054g0014	1	218	0.0046	304	c.262 others(319): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCC TCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTTCC CCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar

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Search Results (Total: 10000 hits)