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
MAP3K5_chr6_136552046_136797477	136769793	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG04228.hp2 HG03017.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0025 a0001c0001 a0002c0025	a0001c0001t0001 a0002c0025t0001 a0001c0001t0001 a0002c0025t0001	a0001c0001t0001g0111 a0002c0025t0001g0101 a0001c0001t0001g0111 a0002c0025t0001g0101	2	162	0.0124	32	c.448 others(51): Show c.448+21916_448+21917insCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCT	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	1/29			chr6	TogoVar
MAP3K5_chr6_136552046_136797477	136769793	A A	AAGGAAGG others(25): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 NA18964.hp1 HG01257.hp1 HG01258.hp2 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0004 a0001c0006t0002 a0001c0003t0004 a0001c0006t0002	a0001c0003t0004g0123 a0001c0006t0002g0136 a0001c0006t0002g0139 a0001c0003t0004g0123 a0001c0006t0002g0136 a0001c0006t0002g0139	3	162	0.0185	32	c.448 others(51): Show c.448+21916_448+21917insCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCT	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	1/29			chr6	TogoVar
MAP3K8_chr10_30429184_30466833	30432974	G G	GGAGAGAG others(25): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01243.hp1 HG01070.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0085 a0001c0001t0001g0026 a0001c0001t0001g0085	2	386	0.0052	32	c.-16 others(43): Show c.-1659_-1658insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1209		chr10	TogoVar
MAP3K8_chr10_30429184_30466833	30453915	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	386	0.0026	32	c.873 others(49): Show c.873+2182_873+2213dupAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP4K1_chr19_38582641_38622953	38590394	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0229 a0001c0002t0001g0229	1	348	0.0029	32	c.239 others(51): Show c.2397-2578_2397-2577insATATATATATATATATATATTTTTTT TTTTTT	MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding	30/30			chr19	TogoVar
MAP4K3_chr2_39244266_39442285	39415980	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA20905.hp2 HG00741.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0148 a0001c0002t0001g0046 a0001c0002t0001g0148	2	232	0.0086	32	c.96+ others(49): Show c.96+20911_96+20912insATATATATATATATATATATATATATTT TTTT	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	1/33			chr2	TogoVar
MAP4_chr3_47845695_48021416	47997326	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18998.hp1 NA19058.hp2 HG03098.hp1 NA18998.hp1 NA19058.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0072 a0002c0002t0002g0090 a0002c0002t0002g0055 a0002c0002t0002g0072 a0002c0002t0002g0090	3	232	0.0129	32	c.223 others(49): Show c.223+1311_223+1312insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MAP4	ENSG00000047849.22	transcript	ENST00000683076.1	protein_coding	2/20			chr3	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGA others(25): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02572.hp1 NA19079.hp1 HG01978.hp1 HG02572.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0002c0002t0005 a0001c0001t0001 a0002c0002t0003 a0002c0002t0005	a0001c0001t0001g0117 a0002c0002t0003g0006 a0002c0002t0005g0014 a0001c0001t0001g0117 a0002c0002t0003g0006 a0002c0002t0005g0014	3	248	0.0121	32	c.68- others(49): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAPK11_chr22_50258713_50275380	50269180	A A	AGGAAGAC others(25): Show AGGAAGACAGATCTGTGCTGGCATGATGGCTAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	428	0.0023	32	c.116 others(47): Show c.116+965_116+996dupCTAGCCATCATGCCAGCACAGATCTGTCTT CC	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding	1/11			chr22	TogoVar
MAPK14_chr6_36022808_36116236	36029871	T T	TTACATTC others(25): Show TTACATTCAGTATATACATATTATATAGGTATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00597.hp2 others(98): Show HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp2 HG01943.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02615.hp1 HG02723.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03831.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19005.hp2 NA19010.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0003t0018 a0001c0005t0022 a0002c0004t0002	a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0001g0072 others(86): Show a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0185 a0001c0001t0001g0237 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0262 a0001c0001t0002g0304 a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0006g0083 a0001c0001t0006g0084 a0001c0001t0008g0002 a0001c0001t0008g0004 a0001c0001t0008g0199 a0001c0001t0008g0226 a0001c0001t0012g0073 a0001c0001t0012g0074 a0001c0001t0019g0242 a0001c0001t0020g0071 a0001c0003t0018g0239 a0001c0005t0022g0236 a0002c0004t0002g0205	101	342	0.2953	32	c.116 others(49): Show c.116+1657_116+1688dupGGTATATACATTCAGTATATACATATTA TATA	MAPK14	ENSG00000112062.12	transcript	ENST00000229794.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
MAPK6_chr15_52014219_52072375	52016070	G G	GCGCGCAC others(25): Show GCGCGCACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0263 a0001c0001t0031g0263	1	356	0.0028	32	c.-39 others(43): Show c.-3938_-3937insCGCGCACACACACACACACACACACACACACA	MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding		3148		chr15	TogoVar
MAPK8IP3_chr16_1701195_1775351	1736492	G G	GTCCGTGT others(25): Show GTCCGTGTGAGCGTGTGACCGTCCGTGTGAGCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(79): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00733.hp2 HG00738.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02129.hp1 HG02145.hp2 HG02165.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp2 HG04199.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18975.hp1 NA18982.hp1 NA18984.hp2 NA18990.hp1 NA19003.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0011 a0001c0012 a0001c0019 a0001c0028 a0001c0029 a0002c0002 a0002c0013 a0003c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0027 a0001c0003t0005 a0001c0004t0004 a0001c0004t0007 a0001c0004t0012 a0001c0004t0026 a0001c0005t0004 a0001c0005t0005 a0001c0005t0007 a0001c0005t0012 a0001c0009t0002 a0001c0011t0003 a0001c0012t0004 a0001c0019t0001 a0001c0028t0028 a0001c0029t0002 a0002c0002t0001 a0002c0013t0007 a0003c0017t0002	a0001c0001t0001g0130 a0001c0001t0001g0229 a0001c0001t0001g0231 others(78): Show a0001c0001t0001g0130 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0002g0001 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0314 a0001c0001t0002g0321 a0001c0001t0008g0054 a0001c0001t0008g0244 a0001c0001t0010g0230 a0001c0001t0010g0276 a0001c0001t0010g0278 a0001c0001t0017g0045 a0001c0001t0018g0046 a0001c0001t0020g0057 a0001c0001t0024g0233 a0001c0001t0027g0202 a0001c0003t0005g0010 a0001c0003t0005g0018 a0001c0003t0005g0019 a0001c0004t0004g0011 a0001c0004t0004g0026 a0001c0004t0004g0027 a0001c0004t0004g0028 a0001c0004t0004g0030 a0001c0004t0004g0034 a0001c0004t0004g0035 a0001c0004t0004g0036 a0001c0004t0004g0159 a0001c0004t0004g0160 a0001c0004t0004g0186 a0001c0004t0004g0300 a0001c0004t0004g0324 a0001c0004t0007g0012 a0001c0004t0007g0016 a0001c0004t0007g0022 a0001c0004t0012g0017 a0001c0004t0012g0033 a0001c0004t0026g0029 a0001c0005t0004g0055 a0001c0005t0005g0203 a0001c0005t0005g0323 a0001c0005t0007g0023 a0001c0005t0012g0009 a0001c0009t0002g0014 a0001c0009t0002g0015 a0001c0009t0002g0020 a0001c0011t0003g0013 a0001c0011t0003g0025 a0001c0012t0004g0031 a0001c0012t0004g0032 a0001c0019t0001g0284 a0001c0028t0028g0049 a0001c0029t0002g0296 a0002c0002t0001g0150 a0002c0002t0001g0153 a0002c0002t0001g0162 a0002c0002t0001g0165 a0002c0013t0007g0007 a0002c0013t0007g0024 a0003c0017t0002g0050	82	330	0.2485	32	c.603 others(49): Show c.603-6812_603-6811insAGCATCCGTGTGAGCGTGTGACCGTCCG TGTG	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MAPK8IP3_chr16_1701195_1775351	1736492	G G	GTCCGTGT others(25): Show GTCCGTGTGAGCGTGTGACTGTCCGTGTGAGCA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	330	0.0030	32	c.603 others(49): Show c.603-6822_603-6821insTGTCCGTGTGAGCATCCGTGTGAGCGTG TGAC	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0074 a0003c0004t0006g0074	1	328	0.0031	32	c.114 others(51): Show c.114+11415_114+11416insTATATATATATATATATATATATATA TATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPT_chr17_45889554_46033334	45941641	T T	TCCTTCCC others(25): Show TCCTTCCCCCCTTCCCCCCTTCCACCCTTCCCC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	253	0.0040	32	c.-17 others(51): Show c.-17-20666_-17-20665insCCCCTTCCACCCTTCCCCCCTTCCCC CCTTCC	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45941673	C C	CCCTTCCA others(25): Show CCCTTCCACCCTTCCCCCCTTCCCTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0167 a0004c0005t0005g0167	1	253	0.0040	32	c.-17 others(51): Show c.-17-20642_-17-20641insACCCTTCCCCCCTTCCCTCCTTCCTT CCTTCC	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45941685	T T	TCCTTCCT others(25): Show TCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp2 others(70): Show HG00099.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00733.hp2 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02273.hp2 HG02451.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02897.hp1 HG03486.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp2 NA18522.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18950.hp1 NA18962.hp1 NA18970.hp1 NA18977.hp1 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18999.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19081.hp1 NA19085.hp1 NA19090.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0001c0015 a0001c0017 others(6): Show a0001c0001 a0001c0015 a0001c0017 a0002c0002 a0002c0003 a0004c0005 a0005c0007 a0006c0006 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0023 a0001c0015t0001 a0001c0017t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0002c0002t0012 a0002c0002t0017 a0002c0003t0001 a0002c0003t0002 a0002c0003t0020 a0002c0003t0024 a0004c0005t0007 a0005c0007t0003 a0006c0006t0002 a0007c0008t0003	a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0001g0133 others(70): Show a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0211 a0001c0001t0001g0226 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0087 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0089 a0001c0001t0003g0113 a0001c0001t0003g0223 a0001c0001t0003g0233 a0001c0001t0003g0243 a0001c0001t0005g0160 a0001c0001t0006g0126 a0001c0001t0006g0163 a0001c0001t0006g0212 a0001c0001t0023g0088 a0001c0015t0001g0098 a0001c0017t0002g0218 a0002c0002t0001g0059 a0002c0002t0001g0158 a0002c0002t0001g0188 a0002c0002t0001g0201 a0002c0002t0001g0220 a0002c0002t0003g0064 a0002c0002t0003g0076 a0002c0002t0003g0151 a0002c0002t0003g0173 a0002c0002t0003g0175 a0002c0002t0003g0213 a0002c0002t0003g0225 a0002c0002t0003g0244 a0002c0002t0003g0251 a0002c0002t0006g0070 a0002c0002t0006g0214 a0002c0002t0006g0215 a0002c0002t0008g0172 a0002c0002t0012g0058 a0002c0002t0017g0112 a0002c0003t0001g0075 a0002c0003t0001g0118 a0002c0003t0001g0132 a0002c0003t0001g0150 a0002c0003t0001g0198 a0002c0003t0001g0239 a0002c0003t0002g0073 a0002c0003t0002g0200 a0002c0003t0002g0219 a0002c0003t0020g0114 a0002c0003t0024g0222 a0004c0005t0007g0077 a0005c0007t0003g0084 a0006c0006t0002g0120 a0007c0008t0003g0185	73	253	0.2885	32	c.-17 others(51): Show c.-17-20626_-17-20625insCTCCTTCCTTCCTTCCTTCCTGCCTT CCTTCC	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45941688	T T	TTCCTTCC others(25): Show TTCCTTCCCTCCTTCCTTCCTTCCCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	253	0.0040	32	c.-17 others(51): Show c.-17-20626_-17-20625insCTCCTTCCTTCCTTCCCCCCTTCCCT CCTTCC	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	46017440	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02280.hp2 HG02451.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0195 a0004c0005t0005g0204 a0004c0005t0005g0195 a0004c0005t0005g0204	2	253	0.0079	32	c.217 others(51): Show c.2174-1148_2174-1147insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62723559	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02886.hp1 HG02886.hp2 others(3): Show HG00673.hp1 HG02886.hp1 HG02886.hp2 HG03471.hp2 HG03486.hp1 NA18968.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0024 a0001c0001 a0008c0024	a0001c0001t0001 a0008c0024t0001 a0001c0001t0001 a0008c0024t0001	a0001c0001t0001g0113 a0001c0001t0001g0218 a0001c0001t0001g0225 others(3): Show a0001c0001t0001g0113 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0244 a0001c0001t0001g0247 a0008c0024t0001g0227	6	280	0.0214	32	c.210 others(49): Show c.2105-963_2105-962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	7/10			chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163599297	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03225.hp1 HG02723.hp2 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0016 a0001c0005t0011 a0001c0005t0016	a0001c0005t0011g0069 a0001c0005t0016g0048 a0001c0005t0011g0069 a0001c0005t0016g0048	2	102	0.0196	32	c.101 others(53): Show c.1010+12973_1010+12974insTATATATATATATATATATATATA TATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	7/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163733207	A A	ACACATGT others(25): Show ACACATGTATATATATATATATATATACACATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 HG02897.hp2 others(1): Show HG02615.hp1 HG02723.hp2 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0014 a0001c0005t0011 a0001c0005t0016 others(1): Show a0001c0001t0014 a0001c0005t0011 a0001c0005t0016 a0001c0006t0001	a0001c0001t0014g0066 a0001c0005t0011g0069 a0001c0005t0016g0048 others(1): Show a0001c0001t0014g0066 a0001c0005t0011g0069 a0001c0005t0016g0048 a0001c0006t0001g0041	4	102	0.0392	32	c.112 others(51): Show c.112-32345_112-32344insCATGTGTATATATATATATATATATA CATGTG	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTATATAC others(25): Show TTATATACATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0098 a0001c0001t0006g0098	1	102	0.0098	32	c.-32 others(53): Show c.-323+43464_-323+43465insTATATATATATATATATATATATA TGTATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01255.hp1 NA18940.hp2 others(1): Show HG00735.hp1 HG01255.hp1 NA18940.hp2 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0001c0001t0076 a0002c0004t0002 a0001c0001t0005 a0001c0001t0076 a0002c0004t0002	a0001c0001t0005g0072 a0001c0001t0005g0216 a0001c0001t0076g0152 others(1): Show a0001c0001t0005g0072 a0001c0001t0005g0216 a0001c0001t0076g0152 a0002c0004t0002g0191	4	296	0.0135	32	c.37 others(43): Show c.3752_*3753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126866885	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0004	1	296	0.0034	32	c.37 others(43): Show c.3747_*3748insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		828		chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126866886	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0249 a0001c0001t0054g0249	1	296	0.0034	32	c.37 others(43): Show c.3746_*3747insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		827		chr5	TogoVar
MARCHF4_chr2_216252865_216377483	216354891	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	330	0.0030	32	c.516 others(51): Show c.516+14822_516+14853dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARCO_chr2_118937194_118999660	118986652	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	394	0.0025	32	c.106 others(51): Show c.1064-3934_1064-3933insAGAAAGAAAGAAAGAAAGAAAGAAAG AAGGAA	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARCO_chr2_118937194_118999660	118986652	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	394	0.0025	32	c.106 others(51): Show c.1064-3934_1064-3933insAGAAAGAAAGAAAGAAGGAAGGAAGG AAGGAA	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARK3_chr14_103380415_103508831	103382182	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG03704.hp1 NA19001.hp1 others(2): Show HG01106.hp1 HG03704.hp1 NA19001.hp1 NA19087.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0080 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0080 a0001c0001t0002g0126 a0001c0001t0002g0192	5	348	0.0144	32	c.-38 others(43): Show c.-3848_-3847insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding		3232		chr14	TogoVar
MARK3_chr14_103380415_103508831	103467674	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 NA19090.hp1 HG01515.hp2 HG01517.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0030 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0001g0030 a0001c0001t0003g0035 a0001c0001t0003g0038	3	348	0.0086	32	c.111 others(49): Show c.1111-336_1111-335insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARS1_chr12_57483068_57521652	57493637	T T	TACATATT others(25): Show TACATATTATATATTATAATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG04184.hp1 HG01168.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	288	0.0069	32	c.770 others(49): Show c.770+2993_770+2994insACATATTATATATTATAATATATTATAT ATTA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20			chr12	TogoVar
MAST1_chr19_12833515_12879952	12861680	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03540.hp1 HG02280.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0034 a0001c0003t0001g0035	2	316	0.0063	32	c.136 others(51): Show c.1366+2947_1366+2978dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	MAST1	ENSG00000105613.10	transcript	ENST00000251472.9	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST3_chr19_18092778_18156687	18093344	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0203 a0002c0001t0001g0203	1	296	0.0034	32	c.-44 others(43): Show c.-4449_-4448insTATATATATATATATATATATATATATATATG	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding		4433		chr19	TogoVar
MAST4_chr5_66591393_67174593	66687530	G G	GTATATAT others(25): Show GTATATATGTATGTATACATATATACACATGCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0002 a0020c0018t0002	a0020c0018t0002g0019 a0020c0018t0002g0019	1	108	0.0093	32	c.364 others(51): Show c.364-72172_364-72141dupTGTATGTATACATATATACACATGCA TATATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66837023	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0006 a0001c0009t0002g0006	1	108	0.0093	32	c.642 others(51): Show c.642+48229_642+48230insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28			chr5	TogoVar
MAST4_chr5_66591393_67174593	67049025	A A	ATATATAT others(25): Show ATATATATATATATACGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0012 a0003c0004t0012	a0003c0004t0012g0002 a0003c0004t0012g0002	1	108	0.0093	32	c.675 others(49): Show c.675-5365_675-5364insCGTATATATATATATACGTATATATATA TATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67078917	T T	TATATATA others(25): Show TATATATATATATAATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03486.hp1 NA18906.hp2 HG02486.hp2 HG03486.hp1 NA18906.hp2	a0004 a0012 a0004 a0012	a0004c0007 a0012c0025 a0004c0007 a0012c0025	a0004c0007t0003 a0004c0007t0021 a0012c0025t0006 a0004c0007t0003 a0004c0007t0021 a0012c0025t0006	a0004c0007t0003g0062 a0004c0007t0021g0057 a0012c0025t0006g0072 a0004c0007t0003g0062 a0004c0007t0021g0057 a0012c0025t0006g0072	3	108	0.0278	32	c.764 others(51): Show c.764-11232_764-11231insATATATATATATATATATAATATATA TATATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67080979	T T	TATAATAT others(25): Show TATAATATATAATTGTATATATTATATAATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0007 a0003c0019t0007	a0003c0019t0007g0026 a0003c0019t0007g0026	1	108	0.0093	32	c.764 others(49): Show c.764-9180_764-9179insATATATAATTGTATATATTATATAATAT AATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MATN2_chr8_97864064_98041724	97889459	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA18950.hp1 NA19076.hp1 HG01258.hp2 NA18950.hp1 NA19076.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0005 a0001c0004 a0004c0005	a0001c0004t0001 a0004c0005t0001 a0001c0004t0001 a0004c0005t0001	a0001c0004t0001g0050 a0001c0004t0001g0233 a0004c0005t0001g0179 a0001c0004t0001g0050 a0001c0004t0001g0233 a0004c0005t0001g0179	3	318	0.0094	32	c.142 others(49): Show c.142+1247_142+1248insTATATATATATATATATATATATATATA TATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0123 a0001c0020t0002g0123	1	318	0.0031	32	c.108 others(51): Show c.1082-6308_1082-6307insAAAAAAAAAAAATATATATATATATA TATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988189	T T	TATATATA others(25): Show TATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0006 a0001c0025t0006	a0001c0025t0006g0067 a0001c0025t0006g0067	1	318	0.0031	32	c.108 others(51): Show c.1082-6290_1082-6289insTATATATATATATATATATATACACA CACACA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	98037392	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 NA18955.hp2 others(2): Show HG00423.hp1 HG00423.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0219 a0001c0002t0001g0226 a0001c0002t0001g0277 others(2): Show a0001c0002t0001g0219 a0001c0002t0001g0226 a0001c0002t0001g0277 a0001c0004t0001g0073 a0001c0004t0001g0092	5	318	0.0157	32	c.16 others(43): Show c.1680_*1681insTATATATATATATATATATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		669		chr8	TogoVar
MATN2_chr8_97864064_98041724	98037392	G G	GTATATGT others(25): Show GTATATGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0006 a0006	a0006c0041 a0006c0041	a0006c0041t0001 a0006c0041t0001	a0006c0041t0001g0099 a0006c0041t0001g0099	1	318	0.0031	32	c.16 others(43): Show c.1680_*1681insTATATGTATATATATATATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		669		chr8	TogoVar
MATN3_chr2_19987052_20017668	20010067	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19006.hp2 NA18974.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0288 a0001c0001t0001g0289	2	432	0.0046	32	c.223 others(49): Show c.223+2341_223+2342insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18962.hp2 NA18966.hp1 others(1): Show HG03017.hp1 NA18962.hp2 NA18966.hp1 NA19055.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0006 a0002c0003 a0005c0006	a0002c0003t0001 a0005c0006t0001 a0002c0003t0001 a0005c0006t0001	a0002c0003t0001g0213 a0005c0006t0001g0033 a0005c0006t0001g0092 a0002c0003t0001g0213 a0005c0006t0001g0033 a0005c0006t0001g0092	4	422	0.0095	32	c.-34 others(47): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MB21D2_chr3_192791815_192922856	192916098	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02257.hp1 HG02280.hp2 others(1): Show HG01074.hp1 HG02257.hp1 HG02280.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0002t0003	a0001c0001t0001g0166 a0001c0001t0004g0168 a0001c0001t0006g0167 others(1): Show a0001c0001t0001g0166 a0001c0001t0004g0168 a0001c0001t0006g0167 a0001c0002t0003g0165	4	298	0.0134	32	c.211 others(49): Show c.211+1531_211+1532insTATATATATATATATATATATATATATA TATA	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBD2_chr18_54146606_54229669	54227024	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0218 a0001c0001t0008g0218	1	300	0.0033	32	c.-24 others(43): Show c.-2466_-2465insTTATATATATATATATATATATATATATATAT	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding		2356		chr18	TogoVar
MBD3L2_chr19_7044321_7056735	7053188	A A	AATATATA others(25): Show AATATATAATTTATATATAATTATAAATACATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0043 a0002c0004t0003g0043	1	258	0.0039	32	c.15 others(43): Show c.1566_*1567insATATATAATTTATATATAATTATAAATACATT	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		1454		chr19	TogoVar
MBD3L2_chr19_7044321_7056735	7053200	A A	ATATATAA others(25): Show ATATATAATTATAAATACATTATATATAATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 NA19070.hp2 HG03041.hp1 NA19070.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0002 a0009c0009t0003 a0001c0001t0002 a0009c0009t0003	a0001c0001t0002g0001 a0009c0009t0003g0033 a0001c0001t0002g0001 a0009c0009t0003g0033	2	258	0.0078	32	c.15 others(43): Show c.1578_*1579insTATATAATTATAAATACATTATATATAATTTC	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		1466		chr19	TogoVar

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