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
MEGF11_chr15_65890299_66258750	66039870	T T	TGGGGTGA others(96): Show TGGGGTGACGGTCCTGAGCCGGGTCAGGCGGCGGTGGGGTGACGGTCCTG AGCCGGGTCAGGCGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGGCGGC GGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	1	176	0.0057	103	c.394 others(122): Show c.394+54429_394+54531dupCACCGCCGCCTGACCCGGCTCAGGAC CGTCACCCCACCGCCGCCTGACCCGGCTCAGGACCGTCACCCCACCGCCG CCTGACCCGGCTCAGGACCGTCACCCC	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25			chr15	TogoVar
METRNL_chr17_83074609_83100122	83090386	C C	CACCCCCC others(96): Show CACCCCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCCACCCCCCG CCCCAGGGTGGGAGCCACACACACACACCCCCACCCCCCGCCCCAGGGTG GGAG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	399	0.0025	103	c.557 others(120): Show c.557-2781_557-2780insACCCCCCGCCCCAGGGTGGGAGCCACAC ACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACACC CCCACCCCCCGCCCCAGGGTGGGAG	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3			chr17	TogoVar
METRNL_chr17_83074609_83100122	83090420	C C	CCCCCCGC others(96): Show CCCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGCCC CACACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACA CACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0194 a0004c0007t0001g0194	1	399	0.0025	103	c.557 others(120): Show c.557-2722_557-2721insGCCCCACACACACACCCCCCGCCCCACA CACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACA CCCCCGCCCCACACACACACACCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090484	C C	CCCCCGCC others(96): Show CCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAGG GTGGGAGCCACACACACACACCCCCCCACACACACACCCCGCCCCACACA CACA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0116 a0001c0001t0013g0116	1	399	0.0025	103	c.557 others(120): Show c.557-2683_557-2682insCCCCGCCCCGCCCCAGGGTGGGAGCCAC ACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACACCCCCCCAC ACACACACCCCGCCCCACACACACA	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3			chr17	TogoVar
METTL8_chr2_171310746_171438990	171438909	T T	TAGAGATA others(96): Show TAGAGATAGGGGTCTCAGTCTACGGCCATACCACCCTGAACGCGCCCGAT CTCGTCTGATCTCGGAAGCTAAGCAGGGTCGGGCCTGGTTAGTACTTGGA TGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show HG00280.hp2 HG00408.hp2 HG00597.hp1 HG00621.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02109.hp1 HG02135.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03239.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19054.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19076.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19090.hp2 NA19091.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0042 a0001c0001t0053 a0001c0001t0067 a0001c0001t0069 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0084 a0001c0002t0009 a0001c0003t0056	a0001c0001t0001g0111 a0001c0001t0001g0256 a0001c0001t0001g0264 others(87): Show a0001c0001t0001g0111 a0001c0001t0001g0256 a0001c0001t0001g0264 a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0003g0001 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0093 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0232 a0001c0001t0003g0295 a0001c0001t0004g0084 a0001c0001t0004g0242 a0001c0001t0004g0246 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0289 a0001c0001t0010g0245 a0001c0001t0010g0257 a0001c0001t0010g0265 a0001c0001t0010g0285 a0001c0001t0010g0286 a0001c0001t0010g0287 a0001c0001t0011g0255 a0001c0001t0011g0258 a0001c0001t0011g0259 a0001c0001t0011g0260 a0001c0001t0011g0266 a0001c0001t0013g0007 a0001c0001t0013g0008 a0001c0001t0013g0009 a0001c0001t0013g0010 a0001c0001t0020g0112 a0001c0001t0020g0274 a0001c0001t0028g0113 a0001c0001t0028g0231 a0001c0001t0029g0252 a0001c0001t0030g0254 a0001c0001t0030g0277 a0001c0001t0036g0003 a0001c0001t0037g0005 a0001c0001t0038g0006 a0001c0001t0039g0004 a0001c0001t0042g0077 a0001c0001t0053g0244 a0001c0001t0067g0243 a0001c0001t0069g0248 a0001c0001t0075g0078 a0001c0001t0076g0074 a0001c0001t0077g0116 a0001c0001t0078g0294 a0001c0001t0079g0261 a0001c0001t0080g0284 a0001c0001t0084g0247 a0001c0002t0009g0249 a0001c0002t0009g0269 a0001c0002t0009g0270 a0001c0003t0056g0253	91	332	0.2741	103	c.-50 others(114): Show c.-5040_-5039insCCCATCCAAGTACTAACCAGGCCCGACCCTGCTT AGCTTCCGAGATCAGACGAGATCGGGCGCGTTCAGGGTGGTATGGCCGTA GACTGAGACCCCTATCTCT	METTL8	ENSG00000123600.21	transcript	ENST00000375258.9	protein_coding		4920		chr2	TogoVar
MGAM_chr7_141990879_142111747	142067986	A A	ATAAATAT others(96): Show ATAAATATATATATATATATAAATATATATATATATATAAATATATATAT ATATATATATATATAAATATATATATATATATATATATATATATTTTTTT TTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0039 a0039	a0039c0060 a0039c0060	a0039c0060t0001 a0039c0060t0001	a0039c0060t0001g0108 a0039c0060t0001g0108	1	316	0.0032	103	c.500 others(120): Show c.5004+562_5004+563insAAATATATATATATATATAAATATATAT ATATATATAAATATATATATATATATATATATATAAATATATATATATAT ATATATATATATATTTTTTTTTTTT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGA_chr15_41655405_41774940	41656343	C C	CCTCTCCT others(96): Show CCTCTCCTCTCCTCTTCTCTTCCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCGTCTCTCTCGTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0187 a0011c0014t0001g0187	1	292	0.0034	103	c.-42 others(114): Show c.-4250_-4249insCTCTCCTCTCCTCTTCTCTTCCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCGTCTCTCTCGTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCT	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding		4061		chr15	TogoVar
MICU1_chr10_72362340_72631079	72535021	T T	TTTTATTT others(96): Show TTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	208	0.0048	103	c.494 others(120): Show c.494-1233_494-1232insTAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAATAAA	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	4/11			chr10	TogoVar
MLPH_chr2_237482251_237560322	237543404	T T	TGGAGGGA others(96): Show TGGAGGGACAGTGGTGAGTGGGCATGGTAGTGAGTGGGGGGACAGTGGTG AGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCATGGTAGTG AGTG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0274 a0005c0004t0001g0274	1	286	0.0035	103	c.153 others(120): Show c.1539+747_1539+748insAGGGACAGTGGTGAGTGGGCATGGTAGT GAGTGGGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTG GTGAGTGGGCATGGTAGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543888	T T	TGGGGGGA others(96): Show TGGGGGGATGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAG TGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0120 a0006c0006t0003g0120	1	286	0.0035	103	c.153 others(122): Show c.1539+1233_1539+1234insGGATGGTGAGTGGGCACGGTGGTGAG TGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGC AAGTGGGCACAGTGGTGAGTGGAGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543990	T T	TGGGGGGA others(96): Show TGGGGGGATGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAG TGGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0118 a0006c0006t0003g0118	1	286	0.0035	103	c.153 others(122): Show c.1539+1334_1539+1335insGGGATGGTGAGTGGGCACGGTGGTGA GTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGG CAAGTGGGCACAGTGGTGAGTGGAGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544145	T T	TGGGGGGA others(96): Show TGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAG TGGA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	286	0.0035	103	c.153 others(122): Show c.1539+1490_1539+1491insGGACAGTGGCAAGTGGGCACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGT GAGTGGGGACAGTGGTGAGTGGAGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIPL_chr7_73588202_73629522	73589414	T T	TAAATATA others(96): Show TAAATATATTTATATAGTTTTATTGATATAAATATAAATATATTTATATA GTTTTATTGATATAAATATAAATATATTTATATAGTTTTATTGATATAAA TATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0097 a0001c0009t0001g0097	1	276	0.0036	103	c.44 others(114): Show c.4450_*4451insTATATTTATATCAATAAAACTATATAAATATATT TATATTTATATCAATAAAACTATATAAATATATTTATATTTATATCAATA AAACTATATAAATATATTT	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding		3787		chr7	TogoVar
MROH1_chr8_144143016_144266926	144202945	A A	AGAGGGGC others(96): Show AGAGGGGCGGGGAGGGGACCACCCGCTGTCTGTGGAGGGGCGGGGGGGGG GGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGCTCTC TGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01952.hp2 HG01981.hp1 others(3): Show HG00597.hp2 HG01952.hp2 HG01981.hp1 HG02074.hp2 HG02738.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0041 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0125	6	140	0.0429	103	c.114 others(122): Show c.1141+2421_1141+2422insCCACCCGCTGTCTGTGGAGGGGCGGG GGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCC GCTCTCTGTGGAGGGGCGGGGAGGGGA	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144202945	A A	AGAGGGGC others(96): Show AGAGGGGCGGGGAGGGGAGCACCCGCTGTCTGTGGAGGGGCGGGCGGGGG GGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGCTCTC TGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0001 a0008c0026t0001	a0008c0026t0001g0011 a0008c0026t0001g0011	1	140	0.0071	103	c.114 others(122): Show c.1141+2423_1141+2424insACCCGCTGTCTGTGGAGGGGCGGGCG GGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGC TCTCTGTGGAGGGGCGGGGAGGGGAGC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL41_chr9_137546879_137557555	137551734	A A	AGCCCCGC others(96): Show AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC CCCGCGAGCCCCGCCCCGCCCCGCGAGCCCCGCACCGCCGACCCCGCACC GCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	408	0.0025	103	c.-25 others(112): Show c.-253_-252insGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCC CCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCCCCGCGAGCCCCGCACCG CCGACCCCGCACCGCCG	MRPL41	ENSG00000182154.8	transcript	ENST00000371443.6	protein_coding		144		chr9	TogoVar
MRTFA_chr22_40405289_40641719	40498277	T T	TATATATA others(96): Show TATATATATATATTTATATATATATATTTATATATATATATATAAATATA TATATATATTTATATATATATACTTATATATATATATATTTATATATATA TATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18939.hp2 HG02071.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0002g0031 a0001c0001t0002g0036	2	256	0.0078	103	c.242 others(122): Show c.242-34992_242-34991insTATATATATATATAAATATATATATA TATAAGTATATATATATAAATATATATATATATTTATATATATATATATA AATATATATATATAAATATATATATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40501469	A A	ACCTCCCG others(96): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	256	0.0039	103	c.242 others(122): Show c.242-38184_242-38183insGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCGGCCCCCCT GCCCGGCCAGCCGCCCCGTCCGGGAGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSH4_chr1_75791882_75918242	75886325	A A	AGTATATA others(96): Show AGTATATATGATGTATTATATATAGCATGTATAGTATATATGATGTATTA TATATAGCATGTATAGTATATATGATGTATTATATATAGTGTATAGTATA TATG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0329 a0001c0002t0004g0329	1	332	0.0030	103	c.210 others(122): Show c.2107+2526_2107+2527insAGCATGTATAGTATATATGATGTATT ATATATAGCATGTATAGTATATATGATGTATTATATATAGTGTATAGTAT ATATGGTATATATGATGTATTATATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767753	C C	CGCGTGGA others(96): Show CGCGTGGAGGAGGGGCGCGTGGAGGAGGGCGCGTGGGGGGGTGTGGAGGG GGGCGCGTGGGGGTGCGTGGGGGGGGCACGTGGAGGGGGGGCGTGTGGGG GGGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	388	0.0026	103	c.159 others(120): Show c.1596+307_1596+308insAGGGCGCGTGGGGGGGTGTGGAGGGGGG CGCGTGGGGGTGCGTGGGGGGGGCACGTGGAGGGGGGGCGTGTGGGGGGG TGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTHFD1L_chr6_150860702_151106887	150994077	A A	AAAGAAAG others(96): Show AAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02155.hp1 NA18979.hp2 others(1): Show HG02071.hp1 HG02155.hp1 NA18979.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0043 a0001c0001t0001g0080 a0001c0001t0001g0140 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0080 a0001c0001t0001g0140 a0001c0001t0004g0206	4	226	0.0177	103	c.212 others(124): Show c.2126-15740_2126-15739insGAAAGAAAGAAAGAAAGAAAGAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAA	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1L_chr6_150860702_151106887	150994077	A A	AAAGAAAG others(96): Show AAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02965.hp1 NA18968.hp1 HG02148.hp2 HG02965.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0008t0001g0045 a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0008t0001g0045	3	226	0.0133	103	c.212 others(124): Show c.2126-15740_2126-15739insGAAAGAAAGAAAGAAAGAAAGAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAA	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1L_chr6_150860702_151106887	150994077	A A	AAAGAAAG others(96): Show AAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	226	0.0044	103	c.212 others(124): Show c.2126-15740_2126-15739insGAAAGAAAGAAAGAAAGAAAGAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAA	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC4_chr3_195741771_195816929	195776606	A A	ACGGCCAT others(96): Show ACGGCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACACC CATACCTTCCACGGCCATACCTTCCACACCCTTACCTTCCACACCCATAC CTTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0062 a0062	a0062c0197 a0062c0197	a0062c0197t0009 a0062c0197t0009	a0062c0197t0009g0243 a0062c0197t0009g0243	1	249	0.0040	103	c.129 others(124): Show c.12943+1696_12943+1697insGAAGGTATGGGTGTGGAAGGTAAG GGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGGGTGT GGAAGGTAAGGGTGTGGAAGGTATGGCCG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110701652	A A	ATTATTTT others(96): Show ATTATTTTTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0060 a0001c0001t0022g0060	1	326	0.0031	103	c.628 others(120): Show c.628+4188_628+4189insATTTTTTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSTN1_chr3_52828121_52840019	52832664	T T	TGCAGGCA others(96): Show TGCAGGCAGGGAGAGGGGTTTTGAGGTCCCTAGTGCAGTGCAGGGAGAGG GGTTTTTGAGGTCCTAGTGCAGTGCAGGGAGAGGGGTTTTGAGGTCCCTA GGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	388	0.0026	103	c.65 others(112): Show c.659_*660insCACCTAGGGACCTCAAAACCCCTCTCCCTGCACTGC ACTAGGACCTCAAAAACCCCTCTCCCTGCACTGCACTAGGGACCTCAAAA CCCCTCTCCCTGCCTGC	MUSTN1	ENSG00000272573.6	transcript	ENST00000446157.3	protein_coding		456		chr3	TogoVar
MYBPC1_chr12_101589971_101691028	101591779	T T	TTCTTCTT others(96): Show TTCTTCTTTTCTTCTTCTTCTCCTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTC CTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 NA18965.hp1 HG00621.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0046 a0001c0001t0003g0063 a0001c0001t0001g0046 a0001c0001t0003g0063	2	360	0.0056	103	c.-32 others(114): Show c.-3292_-3291insTCTTCTTTTCTTCTTCTTCTCCTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCCTCCTCCTCCTCC	MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding		3191		chr12	TogoVar
MYT1_chr20_64159452_64247253	64173740	C C	CAGCATCT others(96): Show CAGCATCTTTCCTTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTC CTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTC CTGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	223	0.0045	103	c.-99 others(120): Show c.-99+9007_-99+9008insTTTCCTTGTAGTTGTGTCCATTTCCCCT CCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCC CCTCCCTGGCTTCTCCTGTAGCATC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174613	T T	TCCCCTCC others(96): Show TCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATT TCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCC ATTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02129.hp2 HG03669.hp2 others(3): Show HG01516.hp2 HG02129.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0016 a0001c0002t0002 a0001c0003t0007 others(1): Show a0001c0001t0016 a0001c0002t0002 a0001c0003t0007 a0001c0004t0004	a0001c0001t0016g0039 a0001c0002t0002g0032 a0001c0002t0002g0043 others(3): Show a0001c0001t0016g0039 a0001c0002t0002g0032 a0001c0002t0002g0043 a0001c0003t0007g0217 a0001c0004t0004g0033 a0001c0004t0004g0034	6	223	0.0269	103	c.-99 others(120): Show c.-99+9893_-99+9894insGCAGCATCTTTCCCTGTAGTTGTGTCCA TTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGT CCATTCCCCCTCCCTGGCTTCTCCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175424	T T	TCTCCTGC others(96): Show TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	223	0.0045	103	c.-99 others(122): Show c.-99+10691_-99+10692insCAGCATCTTTCCCTGTAGTTGTGTCC ATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCC ATTTCCCCTCCCTGGCTTCTCCTCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175698	C C	CCTGTAGT others(96): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTC CCTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG02922.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0143 a0001c0002t0005g0145 a0001c0002t0005g0143 a0001c0002t0005g0145	2	223	0.0090	103	c.-99 others(122): Show c.-99+10959_-99+10960insCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTCCTGCAGCATCTTTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64175745	C C	CCTGTAGT others(96): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	223	0.0045	103	c.-99 others(122): Show c.-99+11006_-99+11007insCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGCAGCATCTTTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64175877	C C	CCTCCTGC others(96): Show CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCT TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	223	0.0045	103	c.-99 others(122): Show c.-99+11140_-99+11141insCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTCCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGT TGTGTCCATTTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64176074	C C	CCTCCTGC others(96): Show CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCT TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTG ACTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	223	0.0045	103	c.-99 others(122): Show c.-99+11370_-99+11371insCCCCCTCCCTGGCTTCTCCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGACTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCAM2_chr21_20993409_21548329	21265007	C C	CACATACA others(96): Show CACATACACATATATAATATATATGTGTATATATACACATATATATATAT TATATATGTGTCTGTATATATATACACATATATATTATATATATGTGTCT GTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG02559.hp1 others(1): Show HG00741.hp1 HG01243.hp1 HG02559.hp1 NA18522.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0006 a0003c0005t0005g0064 a0003c0005t0005g0105 others(1): Show a0003c0005t0005g0006 a0003c0005t0005g0064 a0003c0005t0005g0105 a0003c0005t0005g0126	4	132	0.0303	103	c.56- others(120): Show c.56-15570_56-15569insCATACACATATATAATATATATGTGTAT ATATACACATATATATATATTATATATGTGTCTGTATATATATACACATA TATATTATATATATGTGTCTGTGTA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331558	A A	ATATATAT others(96): Show ATATATATATATACTCTATATATATATATATATACTCTATATATATATAT ATACTCTCTCTCTCTCCATATATATATATATATATATATACTCTCTCTCT CTCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA20905.hp2 HG00673.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0031 a0002c0002t0025 a0002c0002t0031	a0002c0002t0025g0087 a0002c0002t0031g0039 a0002c0002t0025g0087 a0002c0002t0031g0039	2	132	0.0152	103	c.738 others(120): Show c.738-3947_738-3946insTATATATATATACTCTATATATATATAT ATATACTCTATATATATATATATACTCTCTCTCTCTCCATATATATATAT ATATATATATACTCTCTCTCTCTCT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17			chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331558	A A	ATATATAT others(96): Show ATATATATATATACTCTATATATATATATATATACTCTATATATATATAT ATATACTCTCTCTCTCTCCATATATATATATATATATATACTCTCTCTCT CTCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02027.hp1 HG00423.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0086 a0002c0002t0001g0057 a0002c0002t0001g0086	2	132	0.0152	103	c.738 others(120): Show c.738-3947_738-3946insTATATATATATACTCTATATATATATAT ATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATATATAT ATATATATATACTCTCTCTCTCTCT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17			chr21	TogoVar
NCAPG2_chr7_158626169_158709804	158667329	G G	GCCCTCCT others(96): Show GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTA CCCA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0224 a0001c0005t0001g0224	1	378	0.0027	103	c.148 others(122): Show c.1480-2580_1480-2579insTGGGTAAGGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCOR1_chr17_16024157_16220534	16095666	G G	GGGGGGTC others(96): Show GGGGGGTCAGCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAGG TGGGGGGGGGGTCAGCCCCCCTGCCCAGCCAGCCGCCCCGTCCGGGAGGG AGGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	282	0.0036	103	c.282 others(122): Show c.2820+2700_2820+2701insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGCTGACCCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(96): Show GGGGGTCAGCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAG GTGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGG AGGT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02015.hp1 HG02083.hp1 others(1): Show HG01258.hp1 HG02015.hp1 HG02083.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0207 a0001c0001t0002g0228 others(1): Show a0001c0001t0002g0198 a0001c0001t0002g0207 a0001c0001t0002g0228 a0001c0001t0002g0246	4	282	0.0142	103	c.282 others(122): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGTGGCT GGCGGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(96): Show GGGGGTCAGCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAGG TGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGG AGGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01517.hp1 HG02056.hp1 others(6): Show HG01358.hp2 HG01517.hp1 HG02056.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0020 others(6): Show a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0200 a0001c0001t0002g0226 a0001c0001t0002g0240	9	282	0.0319	103	c.282 others(122): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095670	G G	GGTCAGCC others(96): Show GGTCAGCCCCCCCCCCCCCCGGCCAGCCACCCCATCCGGGAGGGAGGTGG GGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGG TGGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0163 a0001c0001t0026g0163	1	282	0.0036	103	c.282 others(122): Show c.2820+2696_2820+2697insACCACCTCCCTCCCGGACGGGGCGGC TGGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCCGGGGGGGGGGGGGGCTGAC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NEGR1_chr1_71390943_72287539	71688419	G G	GATATATA others(96): Show GATATATATATAAAAGATATATATAAAAGATATATATATAAAAGATATAT ATAAAAGATATATATAAAAGATATATATATAAAAGATATATATATAAAAG ATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01071.hp2 others(26): Show HG00639.hp1 HG00741.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01515.hp1 HG01884.hp1 HG01993.hp2 HG02055.hp2 HG02109.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03579.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0002t0003 a0001c0002t0004 a0001c0005t0005 a0002c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0019 others(26): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0002g0009 a0001c0001t0002g0026 a0001c0001t0002g0035 a0001c0001t0002g0043 a0001c0001t0003g0022 a0001c0001t0003g0030 a0001c0001t0003g0039 a0001c0001t0004g0029 a0001c0001t0005g0027 a0001c0001t0006g0004 a0001c0001t0006g0051 a0001c0001t0011g0031 a0001c0001t0013g0042 a0001c0001t0015g0060 a0001c0001t0022g0032 a0001c0001t0023g0062 a0001c0001t0026g0015 a0001c0001t0027g0006 a0001c0002t0003g0044 a0001c0002t0004g0017 a0001c0005t0005g0058 a0002c0007t0001g0064	29	64	0.4531	103	c.667 others(120): Show c.667+9588_667+9589insATATCTTTTATATATATATCTTTTATAT ATATATCTTTTATATATATCTTTTATATATATCTTTTATATATATATCTT TTATATATATCTTTTATATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	4/6			chr1	TogoVar
NF1_chr17_31089977_31382675	31335274	T T	TTATATAT others(96): Show TTATATATATATATATATATATATGTATATAATTATATAGGATTATATGT AGGATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATA CATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0190 a0001c0002t0004g0190	1	252	0.0040	103	c.600 others(120): Show c.6006+265_6006+266insTGTATATAATTATATAGGATTATATGTA GGATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATAC ATATATATATATATATATATATATA	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF1_chr17_31089977_31382675	31335274	T T	TTATATAT others(96): Show TTATATATATATATATATATATGTATATAATTATATAGGATTATATGTAG GATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATACA TATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01168.hp2 HG01943.hp1 others(4): Show HG00642.hp2 HG01168.hp2 HG01943.hp1 HG02109.hp2 HG02615.hp1 HG03209.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0021 others(1): Show a0001c0001 a0001c0002 a0001c0021 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0021t0003 a0002c0006t0001	a0001c0001t0001g0063 a0001c0001t0001g0143 a0001c0001t0003g0123 others(4): Show a0001c0001t0001g0063 a0001c0001t0001g0143 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0002t0004g0158 a0001c0021t0003g0124 a0002c0006t0001g0051	7	252	0.0278	103	c.600 others(120): Show c.6006+264_6006+265insGTATATAATTATATAGGATTATATGTAG GATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATACA TATATATATATATATATATATATAT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NLK_chr17_28037677_28201381	28172264	A A	AAATTCCT others(96): Show AAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGAATTT ATTTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGA ATTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	108	0.0093	103	c.104 others(120): Show c.1048-253_1048-252insAATTCCTTTACATGAGGAATTTATTTAA ATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGAATTTAT TTAAATTCCTTTACATGAGGAATTT	NLK	ENSG00000087095.13	transcript	ENST00000407008.8	protein_coding	6/10			chr17	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(96): Show AAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	440	0.0023	103	c.319 others(118): Show c.319+282_319+283insCTTTCTTTCTTTCTTTCTTTCTGTCTTTCT TTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTT CTGTCTTTCTTTCTGTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993394	T T	TCCCCCCT others(96): Show TCCCCCCTCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCC CTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0010 a0006c0018t0010	a0006c0018t0010g0248 a0006c0018t0010g0248	1	350	0.0029	103	c.54 others(114): Show c.5481_*5482insCCCCCCTCCTCTCCCCCCTCTCTCCCCCCTCCCT CCCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4766		chr19	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGTG others(96): Show CGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGGGTGAGGGAGTCGGGGGG TGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	356	0.0028	103	c.91+ others(116): Show c.91+418_91+419insTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOC4L_chr12_132139457_132157468	132156878	G G	GCACACAC others(96): Show GCACACACTACACACACTACACACACAACCACTACACACCACTACACGCC ACTACACACTACACACACCACTACACACACTACACACAACACACAACCAC TACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02976.hp1 HG03516.hp2 others(2): Show HG01167.hp1 HG02976.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0004t0001g0007 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0004t0001g0007 a0002c0002t0001g0006 a0002c0002t0001g0039	5	294	0.0170	103	c.44 others(114): Show c.4477_*4478insCACACACTACACACACTACACACACAACCACTAC ACACCACTACACGCCACTACACACTACACACACCACTACACACACTACAC ACAACACACAACCACTACA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		4411		chr12	TogoVar

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