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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LSAMP_chr3_115797374_116450487	116031538	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18906.hp2 HG03041.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0071 a0001c0001t0068 a0001c0001t0071	a0001c0001t0068g0091 a0001c0001t0071g0045 a0001c0001t0068g0091 a0001c0001t0071g0045	2	104	0.0192	-29	c.389 others(48): Show c.389-11927_389-11899delAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		LSAMP	ENSG00000185565.13	transcript	ENST00000490035.7	protein_coding	2/6						chr3	TogoVar
LSM14A_chr19_34167504_34234288	34172439	CCGCCGCT others(22): Show CCGCCGCTGCCGCCGCCGCCGCCGCCGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0073 a0001c0001t0021g0073	1	315	0.0032	-29	c.-20 others(38): Show c.-203_-175delCGCCGCTGCCGCCGCCGCCGCCGCCGCCG		LSM14A	ENSG00000257103.9	transcript	ENST00000544216.8	protein_coding					64		chr19	TogoVar
LTBP4_chr19_40596369_40634818	40625273	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03688.hp1 NA18906.hp2 HG01346.hp1 HG03688.hp1 NA18906.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0002 a0004c0005t0001 a0002c0002t0002 a0004c0005t0001	a0002c0002t0002g0072 a0002c0002t0002g0073 a0004c0005t0001g0047 a0002c0002t0002g0072 a0002c0002t0002g0073 a0004c0005t0001g0047	3	338	0.0089	-29	c.383 others(46): Show c.3833-583_3833-555delATATATATATATATATATATATATATAT A		LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29						chr19	TogoVar
LTBP4_chr19_40596369_40634818	40625275	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	338	0.0030	-29	c.383 others(46): Show c.3833-581_3833-553delATATATATATATATATATATATATATAT A		LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29						chr19	TogoVar
LTC4S_chr5_179788986_179801647	179791100	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02922.hp1 HG02809.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	418	0.0048	-29	c.-29 others(40): Show c.-2980_-2952delTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		LTC4S	ENSG00000213316.10	transcript	ENST00000292596.15	protein_coding					2885		chr5	TogoVar
LYPD4_chr19_41832074_41849683	41843049	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	428	0.0023	-29	c.-12 others(46): Show c.-121+500_-121+528delGTTTTTTTTTTTTTTTTTTTTTTTTTTT T		LYPD4	ENSG00000273111.6	transcript	ENST00000609812.6	protein_coding	1/4						chr19	TogoVar
LYPD4_chr19_41832074_41849683	41843050	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAACC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18939.hp2 NA18942.hp2 others(14): Show HG00597.hp2 NA18939.hp2 NA18942.hp2 NA18949.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp1 NA18973.hp1 NA18975.hp2 NA18987.hp2 NA19006.hp2 NA19007.hp1 NA19062.hp2 NA19064.hp1 NA19070.hp2 NA19074.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0010 a0001c0002t0013	a0001c0002t0001g0216 a0001c0002t0002g0009 a0001c0002t0002g0025 others(5): Show a0001c0002t0001g0216 a0001c0002t0002g0009 a0001c0002t0002g0025 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0004g0121 a0001c0002t0010g0063 a0001c0002t0013g0033	17	428	0.0397	-29	c.-12 others(46): Show c.-121+499_-121+527delGGTTTTTTTTTTTTTTTTTTTTTTTTTT T		LYPD4	ENSG00000273111.6	transcript	ENST00000609812.6	protein_coding	1/4						chr19	TogoVar
LYRM4_chr6_5103419_5265950	5245104	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0277 a0002c0002t0005g0277	1	286	0.0035	-29	c.86+ others(46): Show c.86+15515_86+15543delATATATATATATATATATATTTTTTTTT T		LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	1/2						chr6	TogoVar
LYRM4_chr6_5103419_5265950	5245112	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0060 a0001c0001t0011g0060	1	286	0.0035	-29	c.86+ others(46): Show c.86+15507_86+15535delATATATATATATATATATATATATATAT T		LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	1/2						chr6	TogoVar
MAD1L1_chr7_1810795_2237945	1940935	CCAGGCCT others(22): Show CCAGGCCTCACCCTCCTCTTCCTCCCCCCG	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	264	0.0038	-29	c.159 others(48): Show c.1597-4067_1597-4039delCGGGGGGAGGAAGAGGAGGGTGAGGC CTG		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2161962	GTCCGGGA others(22): Show GTCCGGGAGGTGGGGGGCGGCCCCCGCCCA	G G	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	264	0.0038	-29	c.987 others(48): Show c.987-12753_987-12725delTGGGCGGGGGCCGCCCCCCACCTCCC GGA		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18						chr7	TogoVar
MAEA_chr4_1284891_1345137	1316310	GGGCAGTT others(22): Show GGGCAGTTGTCCACTGCTGTGGGGGCCCAT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp1 others(100): Show HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18981.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19091.hp2 NA20300.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0015 a0003c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0005t0001 a0001c0015t0001 a0003c0012t0001	a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 others(100): Show a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0287 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0005g0007 a0001c0001t0006g0251 a0001c0001t0006g0253 a0001c0001t0006g0254 a0001c0001t0012g0187 a0001c0001t0014g0286 a0001c0001t0016g0224 a0001c0002t0001g0172 a0001c0005t0001g0264 a0001c0005t0001g0265 a0001c0015t0001g0217 a0003c0012t0001g0267	103	388	0.2655	-29	c.456 others(44): Show c.456+719_456+747delTCCACTGCTGTGGGGGCCCATGGCAGTTG		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1333942	ATGTGCCC others(22): Show ATGTGCCCACCCCTGCACCCACCCCCATGC	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02683.hp2 HG03834.hp1 others(1): Show HG01934.hp2 HG02683.hp2 HG03834.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0303 a0001c0002t0001g0309 a0001c0002t0001g0310 others(1): Show a0001c0002t0001g0303 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0317	4	388	0.0103	-29	c.765 others(46): Show c.765+1078_765+1106delTGTGCCCACCCCTGCACCCACCCCCATG C		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8						chr4	TogoVar
MAJIN_chr11_64933230_64977108	64948629	ATATATAT others(22): Show ATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA20300.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0379 a0001c0001t0001g0380	2	384	0.0052	-29	c.350 others(44): Show c.350-839_350-811delAAAAAAAAAAAAAAAAAAATATATATATA		MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10						chr11	TogoVar
MAK_chr6_10757723_10843539	10813107	TATATATA others(22): Show TATATATATATATATATATATATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	272	0.0037	-29	c.358 others(44): Show c.358+508_358+536delTTTATATATATATATATATATATATATAT		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14						chr6	TogoVar
MAMDC4_chr9_136847346_136865799	136855611	AGGCCTGT others(22): Show AGGCCTGTGGTAAAGGGGCTCAACCTCCTG	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18978.hp1 NA18978.hp1	a0028 a0028	a0028c0027 a0028c0027	a0028c0027t0001 a0028c0027t0001	a0028c0027t0001g0021 a0028c0027t0001g0021	1	350	0.0029	-29	c.146 others(41): Show c.1464_1471+21delGGCCTGTGGTAAAGGGGCTCAACCTCCTG	p.Ala others(5): Show p.Ala489fs	MAMDC4	ENSG00000177943.14	transcript	ENST00000317446.7	protein_coding	12/27	1535/3681	1464/3414	488/1137			chr9	TogoVar
MAN1A1_chr6_119172205_119354761	119275277	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	350	0.0029	-29	c.897 others(48): Show c.897+15377_897+15405delAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	5/12						chr6	TogoVar
MAP1LC3B2_chr12_116554381_116581606	116566930	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0199 a0001c0001t0026g0199	1	446	0.0022	-29	c.-10 others(48): Show c.-102+7510_-102+7538delAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		MAP1LC3B2	ENSG00000258102.5	transcript	ENST00000556529.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr12	TogoVar
MAP2K5_chr15_67537703_67812114	67739448	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	278	0.0036	-29	c.107 others(48): Show c.1075-8781_1075-8753delATATATATATATATTTTTTTTTTTTT TTT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67739450	ATATATAT others(22): Show ATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	278	0.0036	-29	c.107 others(48): Show c.1075-8779_1075-8751delATATATATATATTTTTTTTTTTTTTT TTT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67739454	ATATATAT others(22): Show ATATATATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	278	0.0036	-29	c.107 others(48): Show c.1075-8775_1075-8747delATATATATTTTTTTTTTTTTTTTTTT TTT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67805747	GGAAGCCA others(22): Show GGAAGCCACTTGGTGTAAGTTCCTGGGCAA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0245 a0001c0001t0004g0245	1	278	0.0036	-29	c.124 others(46): Show c.1243-884_1243-856delTAAGTTCCTGGGCAAGAAGCCACTTGGT G		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	21/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2_chr2_209419047_209739112	209706510	GACCCTCT others(22): Show GACCCTCTAGAGAGGGTAACTTGTCCAGTT	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	148	0.0068	-29	c.473 others(46): Show c.4732+804_4732+832delTGTCCAGTTACCCTCTAGAGAGGGTAAC T		MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K15_chrX_19355059_19520508	19474908	GTATTTAA others(22): Show GTATTTAAACACTTTAAAACAGTGGTCCCC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0002 a0009c0019t0002	a0009c0019t0002g0148 a0009c0019t0002g0148	1	163	0.0061	-29	c.526 others(48): Show c.526-10531_526-10503delGGGGACCACTGTTTTAAAGTGTTTAA ATA		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28						chrX	TogoVar
MAP3K20_chr2_173070846_173273015	173110213	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	334	0.0030	-29	c.159 others(48): Show c.159+19025_159+19053delATATATATATATATATATATATATAT ATT		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173110215	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20129.hp1 NA21309.hp1 HG03195.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0002 a0001c0001t0006 a0001c0001t0015	a0001c0001t0002g0072 a0001c0001t0006g0025 a0001c0001t0015g0075 a0001c0001t0002g0072 a0001c0001t0006g0025 a0001c0001t0015g0075	3	334	0.0090	-29	c.159 others(48): Show c.159+19027_159+19055delATATATATATATATATATATATATAT TTT		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4K1_chr19_38582641_38622953	38590387	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	348	0.0029	-29	c.239 others(48): Show c.2397-2599_2397-2571delATATATATATATATATATATATTTTT TTT		MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding	30/30						chr19	TogoVar
MAPK8IP3_chr16_1701195_1775351	1761398	ACCACCAT others(22): Show ACCACCATTCACCATTCACAGGCAGAGCGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp2 HG03453.hp2 HG01891.hp2 HG02965.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0025 a0002c0010t0001 a0002c0002t0025 a0002c0010t0001	a0002c0002t0025g0315 a0002c0010t0001g0037 a0002c0010t0001g0038 a0002c0002t0025g0315 a0002c0010t0001g0037 a0002c0010t0001g0038	3	330	0.0091	-29	c.153 others(46): Show c.1539+145_1539+173delAGAGCGGCCACCATTCACCATTCACAGG C		MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	13/31					INFO_REALIGN_3_PRIME	chr16	TogoVar
MAPK8IP3_chr16_1701195_1775351	1761597	AGCGGCCA others(22): Show AGCGGCCACCATTCACCATTCACAGGCGGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01192.hp1 HG02015.hp2 others(24): Show HG00280.hp1 HG01192.hp1 HG02015.hp2 HG02129.hp1 HG02165.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02647.hp1 HG02723.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG04199.hp1 NA18941.hp2 NA18948.hp2 NA19007.hp2 NA19043.hp2 NA19057.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0012 a0001c0019 a0001c0029 a0002c0013	a0001c0001t0027 a0001c0004t0004 a0001c0004t0007 others(9): Show a0001c0001t0027 a0001c0004t0004 a0001c0004t0007 a0001c0004t0012 a0001c0004t0026 a0001c0005t0004 a0001c0005t0007 a0001c0005t0012 a0001c0012t0004 a0001c0019t0001 a0001c0029t0002 a0002c0013t0007	a0001c0001t0027g0202 a0001c0004t0004g0011 a0001c0004t0004g0026 others(24): Show a0001c0001t0027g0202 a0001c0004t0004g0011 a0001c0004t0004g0026 a0001c0004t0004g0027 a0001c0004t0004g0028 a0001c0004t0004g0030 a0001c0004t0004g0034 a0001c0004t0004g0035 a0001c0004t0004g0036 a0001c0004t0004g0256 a0001c0004t0004g0300 a0001c0004t0004g0324 a0001c0004t0007g0012 a0001c0004t0007g0016 a0001c0004t0007g0022 a0001c0004t0012g0017 a0001c0004t0012g0033 a0001c0004t0026g0029 a0001c0005t0004g0055 a0001c0005t0007g0023 a0001c0005t0012g0009 a0001c0012t0004g0031 a0001c0012t0004g0032 a0001c0019t0001g0284 a0001c0029t0002g0296 a0002c0013t0007g0007 a0002c0013t0007g0024	27	330	0.0818	-29	c.153 others(46): Show c.1539+371_1539+399delACAGGCGGGGCGGCCACCATTCACCATT C		MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	13/31					INFO_REALIGN_3_PRIME	chr16	TogoVar
MAPKAP1_chr9_125432394_125712208	125576480	CTCTCCCT others(22): Show CTCTCCCTCTCCCTCTCCCTCTCCCCACGG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03710.hp2 HG02055.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0107 a0001c0001t0015g0108 a0001c0001t0001g0107 a0001c0001t0015g0108	2	300	0.0067	-29	c.671 others(46): Show c.671+9046_671+9074delCCGTGGGGAGAGGGAGAGGGAGAGGGAG A		MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	5/11						chr9	TogoVar
MAPT_chr17_45889554_46033334	45956565	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00738.hp2 others(17): Show HG00323.hp1 HG00558.hp1 HG00738.hp2 HG01109.hp2 HG01175.hp1 HG01261.hp1 HG01346.hp2 HG01943.hp2 HG01952.hp1 HG02074.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02615.hp1 NA18986.hp2 NA18999.hp2 NA19010.hp2 NA19011.hp1 NA19085.hp1 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0015 a0002c0003 others(2): Show a0001c0001 a0001c0015 a0002c0003 a0004c0005 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0015t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0015t0001 a0002c0003t0001 a0004c0005t0001 a0005c0007t0003	a0001c0001t0001g0074 a0001c0001t0001g0148 a0001c0001t0001g0165 others(17): Show a0001c0001t0001g0074 a0001c0001t0001g0148 a0001c0001t0001g0165 a0001c0001t0001g0226 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0003g0229 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0238 a0001c0001t0003g0243 a0001c0015t0001g0098 a0002c0003t0001g0132 a0004c0005t0001g0104 a0005c0007t0003g0230	20	253	0.0791	-29	c.-17 others(46): Show c.-17-5755_-17-5727delATATATATATATATATATATATATATAT A		MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12						chr17	TogoVar
MAPT_chr17_45889554_46033334	45956567	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03688.hp1 HG01934.hp1 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0019 a0001c0001t0001 a0002c0003t0019	a0001c0001t0001g0249 a0002c0003t0019g0044 a0001c0001t0001g0249 a0002c0003t0019g0044	2	253	0.0079	-29	c.-17 others(46): Show c.-17-5753_-17-5725delATATATATATATATATATATATATATAT A		MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12						chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163847549	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01884.hp2 HG02257.hp1 others(7): Show HG01071.hp1 HG01884.hp2 HG02257.hp1 HG02280.hp2 HG02615.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0020 a0001c0002t0003 a0001c0002t0028	a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0044 others(7): Show a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0005g0021 a0001c0001t0005g0074 a0001c0001t0013g0015 a0001c0001t0020g0070 a0001c0002t0003g0001 a0001c0002t0003g0016 a0001c0002t0028g0099	10	102	0.0980	-29	c.111 others(46): Show c.111+6443_111+6471delAAAAAAAAAAAAAAAAAAAAAAAAAAAA A		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9						chr4	TogoVar
MAST4_chr5_66591393_67174593	66837874	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA21309.hp2 HG02258.hp1 NA21309.hp2	a0001 a0019 a0001 a0019	a0001c0033 a0019c0020 a0001c0033 a0019c0020	a0001c0033t0007 a0019c0020t0013 a0001c0033t0007 a0019c0020t0013	a0001c0033t0007g0016 a0019c0020t0013g0004 a0001c0033t0007g0016 a0019c0020t0013g0004	2	108	0.0185	-29	c.642 others(48): Show c.642+49082_642+49110delATATATATATATATATATATTTTTTT TTT		MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28					INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67080979	TATATATA others(22): Show TATATATAATTGTATATATTATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02572.hp1 others(4): Show HG02055.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02897.hp1 HG02976.hp2 HG03139.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0008 a0004c0007 others(1): Show a0001c0001 a0001c0008 a0004c0007 a0007c0014	a0001c0001t0008 a0001c0001t0030 a0001c0008t0003 others(3): Show a0001c0001t0008 a0001c0001t0030 a0001c0008t0003 a0001c0008t0006 a0004c0007t0009 a0007c0014t0007	a0001c0001t0008g0076 a0001c0001t0030g0029 a0001c0008t0003g0040 others(4): Show a0001c0001t0008g0076 a0001c0001t0030g0029 a0001c0008t0003g0040 a0001c0008t0006g0084 a0004c0007t0009g0058 a0007c0014t0007g0008 a0007c0014t0007g0012	7	108	0.0648	-29	c.764 others(46): Show c.764-9095_764-9067delATATATAATTGTATATATTATATAATAT A		MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28					INFO_REALIGN_3_PRIME	chr5	TogoVar
MATCAP2_chr7_36319152_36372240	36343486	GGGGACGG others(22): Show GGGGACGGGAGATGGGAGGGGAGGGGAGAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(40): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG01070.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02523.hp1 HG02683.hp2 HG02735.hp1 HG02809.hp1 HG03831.hp2 HG03834.hp2 HG04228.hp2 NA18940.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA19002.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0020 others(33): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0002g0178 a0001c0001t0012g0032 a0001c0001t0014g0245	43	388	0.1108	-29	c.715 others(46): Show c.715-7218_715-7190delATCTCCCCTCCCCTCCCATCTCCCGTCC C		MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	2/6						chr7	TogoVar
MAX_chr14_65070127_65107517	65089756	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	382	0.0026	-29	c.171 others(46): Show c.171+3923_171+3951delTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		MAX	ENSG00000125952.21	transcript	ENST00000358664.9	protein_coding	3/4						chr14	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(22): Show CATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp2 HG01261.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0211 a0001c0001t0002g0078 a0001c0001t0001g0211 a0001c0001t0002g0078	2	298	0.0067	-29	c.212 others(48): Show c.212-28970_212-28942delTATATATATATATATATATATATATA TAT		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1						chr3	TogoVar
MB21D2_chr3_192791815_192922856	192828593	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19003.hp2 HG01109.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0003 a0001c0001t0011 a0001c0002t0003	a0001c0001t0011g0154 a0001c0002t0003g0024 a0001c0001t0011g0154 a0001c0002t0003g0024	2	298	0.0067	-29	c.212 others(48): Show c.212-28972_212-28944delTATATATATATATATATATATATATA TAT		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1						chr3	TogoVar
MBD3L4_chr19_7032749_7045179	7035573	AATATACC others(22): Show AATATACCGATATAGTATATATTATACAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01106.hp2 HG01123.hp1 others(19): Show HG00735.hp2 HG01106.hp2 HG01123.hp1 HG01169.hp2 HG02055.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02738.hp1 HG02976.hp1 HG03490.hp1 HG03492.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp1 HG04199.hp2 NA18968.hp1 NA18969.hp1 NA19084.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0010	22	262	0.0840	-29	c.22 others(40): Show c.2259_*2287delATTGTATAATATATACTATATCGGTATAT		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding					2175		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035573	AATATACC others(22): Show AATATACCGATATAGTATATATTATACAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01123.hp2 HG01169.hp1 others(19): Show HG01106.hp2 HG01123.hp2 HG01169.hp1 HG02055.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02738.hp2 HG03017.hp1 HG03130.hp2 HG03492.hp2 HG03516.hp2 HG03710.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18995.hp1 NA18995.hp2 NA19084.hp2 NA19091.hp2 NA20752.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0020 a0001c0001 a0002c0002 a0010c0020	a0001c0001t0001 a0002c0002t0001 a0010c0020t0001 a0001c0001t0001 a0002c0002t0001 a0010c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0002c0002t0001g0001 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0044 a0010c0020t0001g0002	22	249	0.0884	-29	c.26 others(40): Show c.2680_*2708delATATACCGATATAGTATATATTATACAAT		MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding					2563		chr19	TogoVar
MBD5_chr2_148016091_148521971	148289893	ACTGTTTT others(22): Show ACTGTTTTCATTCTTACACTTATTTGTATT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(166): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0002c0013 a0003c0012 a0004c0008 a0005c0006 a0006c0010 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0002t0003 a0001c0002t0015 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0004t0001 a0001c0007t0001 a0001c0009t0002 a0002c0013t0002 a0003c0012t0005 a0004c0008t0002 a0005c0006t0001 a0006c0010t0002 a0007c0011t0005	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(166): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0068 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0120 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0156 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0047 a0001c0001t0003g0059 a0001c0001t0003g0073 a0001c0001t0003g0111 a0001c0001t0004g0038 a0001c0001t0004g0046 a0001c0001t0004g0049 a0001c0001t0004g0052 a0001c0001t0004g0065 a0001c0001t0004g0083 a0001c0001t0004g0092 a0001c0001t0004g0096 a0001c0001t0004g0143 a0001c0001t0004g0183 a0001c0001t0005g0030 a0001c0001t0005g0072 a0001c0001t0005g0132 a0001c0001t0005g0145 a0001c0001t0006g0013 a0001c0001t0006g0074 a0001c0001t0006g0160 a0001c0001t0006g0177 a0001c0001t0007g0010 a0001c0001t0007g0104 a0001c0001t0007g0161 a0001c0001t0007g0187 a0001c0001t0008g0017 a0001c0001t0009g0027 a0001c0001t0009g0115 a0001c0001t0009g0116 a0001c0001t0010g0033 a0001c0001t0010g0086 a0001c0001t0010g0127 a0001c0001t0011g0031 a0001c0001t0011g0114 a0001c0001t0012g0121 a0001c0001t0012g0122 a0001c0001t0013g0081 a0001c0001t0013g0166 a0001c0001t0014g0018 a0001c0001t0014g0151 a0001c0001t0015g0023 a0001c0001t0016g0139 a0001c0001t0017g0079 a0001c0001t0019g0146 a0001c0001t0020g0109 a0001c0001t0021g0097 a0001c0001t0022g0113 a0001c0001t0023g0159 a0001c0001t0024g0105 a0001c0001t0026g0163 a0001c0001t0027g0076 a0001c0001t0028g0138 a0001c0001t0029g0186 a0001c0001t0030g0003 a0001c0001t0031g0048 a0001c0002t0003g0100 a0001c0002t0003g0141 a0001c0002t0015g0056 a0001c0003t0001g0075 a0001c0003t0003g0149 a0001c0003t0008g0150 a0001c0004t0001g0144 a0001c0007t0001g0045 a0001c0009t0002g0043 a0002c0013t0002g0025 a0003c0012t0005g0118 a0004c0008t0002g0119 a0005c0006t0001g0134 a0006c0010t0002g0004 a0007c0011t0005g0057	169	188	0.8989	-29	c.-67 others(50): Show c.-679-52318_-679-52290delGTTTTCATTCTTACACTTATTTGT ATTCT		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBNL3_chrX_132364320_132494038	132408092	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01515.hp1 HG04228.hp1 HG00621.hp1 HG01515.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0064 a0001c0001t0004g0014 a0001c0001t0005g0086 a0001c0001t0001g0064 a0001c0001t0004g0014 a0001c0001t0005g0086	3	191	0.0157	-29	c.178 others(46): Show c.178-1729_178-1701delAAAAAAAAAAAAAAAAAAAAAAAAAAAA A		MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	2/8						chrX	TogoVar
MBTD1_chr17_51172425_51265049	51244033	GGTGTAGT others(22): Show GGTGTAGTCCAGTTTTCCACTGTATACTAC	G G	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0222 a0001c0001t0016g0222	1	340	0.0029	-29	c.-49 others(48): Show c.-49+15081_-49+15109delGTAGTATACAGTGGAAAACTGGACTA CAC		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	2/16						chr17	TogoVar
MBTPS1_chr16_84048763_84121942	84051428	GGTAAGGA others(22): Show GGTAAGGAGAGCTACAAGGCCCGCATGTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0247 a0001c0001t0011g0247	1	424	0.0024	-29	c.29 others(40): Show c.2992_*3020delGCACATGCGGGCCTTGTAGCTCTCCTTAC		MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding					2334		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051923	TGCAAGGC others(22): Show TGCAAGGCCCGCATGTGCGTAAGGAGAGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02886.hp2 others(5): Show HG02055.hp1 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG03516.hp1 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0018 a0001c0002t0012 a0001c0002t0018	a0001c0002t0012g0012 a0001c0002t0012g0248 a0001c0002t0012g0249 others(4): Show a0001c0002t0012g0012 a0001c0002t0012g0248 a0001c0002t0012g0249 a0001c0002t0012g0250 a0001c0002t0018g0397 a0001c0002t0018g0398 a0001c0002t0018g0399	8	424	0.0189	-29	c.24 others(40): Show c.2497_*2525delCGCTCTCCTTACGCACATGCGGGCCTTGC		MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding					1839		chr16	TogoVar
MCC_chr5_113017106_113493453	113299292	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02818.hp1 others(13): Show HG01243.hp2 HG02615.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG03130.hp1 HG03209.hp1 HG03654.hp2 HG04199.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0008 a0001c0010 a0001c0016 others(10): Show a0001c0008 a0001c0010 a0001c0016 a0001c0017 a0001c0024 a0001c0041 a0001c0043 a0001c0047 a0003c0005 a0003c0006 a0003c0015 a0003c0020 a0007c0058	a0001c0008t0031 a0001c0010t0005 a0001c0010t0028 others(11): Show a0001c0008t0031 a0001c0010t0005 a0001c0010t0028 a0001c0016t0006 a0001c0017t0003 a0001c0024t0009 a0001c0041t0045 a0001c0043t0021 a0001c0047t0002 a0003c0005t0001 a0003c0006t0017 a0003c0015t0036 a0003c0020t0003 a0007c0058t0007	a0001c0008t0031g0034 a0001c0010t0005g0033 a0001c0010t0005g0036 others(13): Show a0001c0008t0031g0034 a0001c0010t0005g0033 a0001c0010t0005g0036 a0001c0010t0028g0035 a0001c0016t0006g0042 a0001c0017t0003g0044 a0001c0024t0009g0045 a0001c0041t0045g0067 a0001c0043t0021g0043 a0001c0047t0002g0041 a0003c0005t0001g0019 a0003c0005t0001g0020 a0003c0006t0017g0023 a0003c0015t0036g0018 a0003c0020t0003g0022 a0007c0058t0007g0159	16	160	0.1000	-29	c.627 others(48): Show c.627+41198_627+41226delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18						chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183216572	ATATATAT others(22): Show ATATATATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0024 a0003c0003t0008g0024	1	176	0.0057	-29	c.237 others(46): Show c.2371-507_2371-479delAAAAAAAAAAAAAAAAAAAAATATATAT A		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29						chr3	TogoVar
MCF2L_chr13_112964214_113104742	113031148	GAGAGACA others(22): Show GAGAGACAGAGAGAAGAGACAGAGAGTGAC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03098.hp1 HG01496.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0023 a0001c0005t0025 a0001c0001t0023 a0001c0005t0025	a0001c0001t0023g0018 a0001c0005t0025g0016 a0001c0001t0023g0018 a0001c0005t0025g0016	2	116	0.0172	-29	c.278 others(46): Show c.278+6394_278+6422delGACAGAGAGAAGAGACAGAGAGTGACAG A		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113055383	CACACACA others(22): Show CACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0114 a0002c0007t0001g0114	1	116	0.0086	-29	c.370 others(46): Show c.370-5209_370-5181delACACACACACACACACACACACACACAC A		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29						chr13	TogoVar

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