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
MAK_chr6_10757723_10843539	10813112	ATATATAT others(20): Show ATATATATATATATATATATATAAATTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03486.hp1 HG02145.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0228 a0001c0001t0004g0229	2	272	0.0074	-27	c.358 others(42): Show c.358+505_358+531delAAATTTATATATATATATATATATATA		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14						chr6	TogoVar
MAK_chr6_10757723_10843539	10813114	ATATATAT others(20): Show ATATATATATATATATATATAAATTTTT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0230 a0001c0001t0010g0230	1	272	0.0037	-27	c.358 others(42): Show c.358+503_358+529delAAAAATTTATATATATATATATATATA		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14						chr6	TogoVar
MAK_chr6_10757723_10843539	10813126	ATATATAT others(20): Show ATATATATAAATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0082 a0001c0001t0007g0082	1	272	0.0037	-27	c.358 others(42): Show c.358+491_358+517delAAAAAAAAAAAAAAAAATTTATATATA		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14						chr6	TogoVar
MALRD1_chr10_19043801_19739478	19171994	TATATATC others(20): Show TATATATCACATATATGTGATATATATC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03710.hp2 HG01123.hp2 HG03710.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0002 a0011c0018t0001 a0011c0018t0002	a0011c0018t0001g0028 a0011c0018t0002g0062 a0011c0018t0001g0028 a0011c0018t0002g0062	2	152	0.0132	-27	c.183 others(46): Show c.1831-3146_1831-3120delATGTGATATATATCATATATCACATA T		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	13/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MAMLD1_chrX_150358317_150519173	150398252	GAGAAGAA others(20): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG06807.hp2 others(1): Show HG02895.hp1 HG02897.hp2 HG06807.hp2 NA21309.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0007 a0002c0002 a0010c0007	a0002c0002t0001 a0010c0007t0002 a0002c0002t0001 a0010c0007t0002	a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0225 others(1): Show a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0225 a0010c0007t0002g0037	4	226	0.0177	-27	c.-64 others(46): Show c.-64+34786_-64+34812delAGAAGAAGAAGAAGAAGAAGAAGAAG A		MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150398322	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAAGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02257.hp1 HG02976.hp1 HG01978.hp1 HG02257.hp1 HG02976.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0015 a0001c0001t0001g0124 a0007c0010t0001g0136 a0001c0001t0001g0015 a0001c0001t0001g0124 a0007c0010t0001g0136	3	226	0.0133	-27	c.-64 others(46): Show c.-64+34798_-64+34824delAGAAGAAGAAGAAGAGGAAGAGGAAG A		MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150398328	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAGGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	226	0.0044	-27	c.-64 others(46): Show c.-64+34804_-64+34830delAGAAGAAGAGGAAGAGGAAGAGGAAG A		MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN1A1_chr6_119172205_119354761	119275277	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	350	0.0029	-27	c.897 others(46): Show c.897+15379_897+15405delAAAAAAAAAAAAAAAAAAAAAAAAAA A		MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	5/12						chr6	TogoVar
MAP2K2_chr19_4085321_4129122	4123605	GTCCCCTG others(20): Show GTCCCCTGCCCTGTCCTCCCCTCGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02723.hp2 HG02735.hp2 others(15): Show HG01358.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG02922.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG04204.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0007 a0001c0003t0005 a0001c0004t0001 a0001c0004t0006	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0031 others(15): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0031 a0001c0001t0005g0284 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0002t0007g0293 a0001c0003t0005g0285 a0001c0003t0005g0286 a0001c0003t0005g0294 a0001c0004t0001g0026 a0001c0004t0006g0025 a0001c0004t0006g0029 a0001c0004t0006g0030	18	330	0.0546	-27	c.92+ others(40): Show c.92+152_92+178delTTCTCGAGGGGAGGACAGGGCAGGGGA		MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10						chr19	TogoVar
MAP2K5_chr15_67537703_67812114	67615703	TTTAAAAA others(20): Show TTTAAAAATTATATTTTTCATTAGCTGA	T T	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	278	0.0036	-27	c.545 others(46): Show c.545+14955_545+14981delTTAAAAATTATATTTTTCATTAGCTG A		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	8/21						chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67634367	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA18969.hp1 HG01256.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0258 a0001c0001t0004g0248 a0001c0001t0004g0258	2	278	0.0072	-27	c.585 others(44): Show c.585+3456_585+3482delAAAAAAAAAAAAAAAAAAAAAAAAAAA		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67739442	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0054	1	278	0.0036	-27	c.107 others(46): Show c.1075-8787_1075-8761delATATATATATATATATATATTTTTTT T		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67739444	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01496.hp1 NA18943.hp2 others(4): Show HG01081.hp1 HG01496.hp1 NA18943.hp2 NA18952.hp2 NA18969.hp2 NA18982.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0003c0004t0003 a0001c0001t0002 a0001c0001t0003 a0003c0004t0003	a0001c0001t0002g0116 a0001c0001t0003g0032 a0001c0001t0003g0051 others(4): Show a0001c0001t0002g0116 a0001c0001t0003g0032 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0065 a0003c0004t0003g0061	7	278	0.0252	-27	c.107 others(46): Show c.1075-8785_1075-8759delATATATATATATATATATTTTTTTTT T		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67739446	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	278	0.0036	-27	c.107 others(46): Show c.1075-8783_1075-8757delATATATATATATATATTTTTTTTTTT T		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP3K15_chrX_19355059_19520508	19367723	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	163	0.0061	-27	c.356 others(46): Show c.3566+1304_3566+1330delAAAAAAAAAAAAAAAAAAAAAAAAAA A		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	25/28						chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19496860	TTTCCTCA others(20): Show TTTCCTCAGCAGTATCTGTCCCCTACGC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01884.hp1 others(2): Show HG01070.hp1 HG01071.hp1 HG01884.hp1 HG01891.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0006 a0002c0003t0009 a0001c0001t0001 a0002c0003t0006 a0002c0003t0009	a0001c0001t0001g0035 a0002c0003t0006g0154 a0002c0003t0009g0155 others(2): Show a0001c0001t0001g0035 a0002c0003t0006g0154 a0002c0003t0009g0155 a0002c0003t0009g0156 a0002c0003t0009g0157	5	163	0.0307	-27	c.362 others(44): Show c.362-7920_362-7894delGCGTAGGGGACAGATACTGCTGAGGAA		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	1/28						chrX	TogoVar
MAP3K20_chr2_173070846_173273015	173110223	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0006 a0005c0013t0006	a0005c0013t0006g0122 a0005c0013t0006g0122	1	334	0.0030	-27	c.159 others(46): Show c.159+19035_159+19061delATATATATATATATATATTTTTTTTT T		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K21_chr1_233322724_233390148	233339241	TTCTTCTT others(20): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00741.hp2 HG02004.hp1 others(7): Show HG00597.hp2 HG00741.hp2 HG02004.hp1 HG02683.hp1 HG02886.hp2 HG03491.hp2 HG03710.hp2 NA18956.hp2 NA18999.hp1 NA19010.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0004c0005 a0007c0015	a0001c0001t0002 a0001c0006t0009 a0002c0002t0024 others(5): Show a0001c0001t0002 a0001c0006t0009 a0002c0002t0024 a0002c0002t0030 a0002c0002t0051 a0002c0002t0054 a0004c0005t0003 a0007c0015t0039	a0001c0001t0002g0023 a0001c0001t0002g0314 a0001c0006t0009g0338 others(7): Show a0001c0001t0002g0023 a0001c0001t0002g0314 a0001c0006t0009g0338 a0002c0002t0024g0059 a0002c0002t0030g0099 a0002c0002t0051g0119 a0002c0002t0054g0118 a0004c0005t0003g0046 a0004c0005t0003g0047 a0007c0015t0039g0048	10	372	0.0269	-27	c.806 others(44): Show c.806-7177_806-7151delTTCCTCTTCTTCTTCTTCTTCTTCTTC		MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K2_chr2_127293668_127392975	127381903	TAAACAAT others(20): Show TAAACAATGCTATGACGGGGGGAGGGGG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(126): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02698.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18978.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(14): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0057 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0002t0008 a0001c0002t0055 a0001c0006t0001 a0002c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0202 a0001c0001t0001g0203 others(124): Show a0001c0001t0001g0001 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0005g0220 a0001c0001t0005g0227 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0251 a0001c0001t0005g0260 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0302 a0001c0001t0005g0304 a0001c0001t0005g0312 a0001c0001t0010g0225 a0001c0001t0010g0244 a0001c0001t0010g0250 a0001c0001t0010g0257 a0001c0001t0010g0258 a0001c0001t0010g0259 a0001c0001t0010g0293 a0001c0001t0015g0232 a0001c0001t0015g0252 a0001c0001t0015g0278 a0001c0001t0015g0311 a0001c0001t0024g0255 a0001c0001t0024g0290 a0001c0001t0024g0301 a0001c0001t0030g0245 a0001c0001t0030g0282 a0001c0001t0031g0218 a0001c0001t0031g0236 a0001c0001t0032g0002 a0001c0001t0057g0189 a0001c0001t0071g0201 a0001c0001t0072g0273 a0001c0001t0073g0292 a0001c0001t0074g0214 a0001c0002t0008g0108 a0001c0002t0008g0139 a0001c0002t0008g0167 a0001c0002t0008g0169 a0001c0002t0008g0170 a0001c0002t0008g0171 a0001c0002t0008g0172 a0001c0002t0008g0178 a0001c0002t0008g0184 a0001c0002t0055g0168 a0001c0006t0001g0263 a0002c0008t0001g0267	129	320	0.4031	-27	c.-66 others(44): Show c.-66+5522_-66+5548delCCCCCTCCCCCCGTCATAGCATTGTTT		MAP3K2	ENSG00000169967.17	transcript	ENST00000682094.1	protein_coding	1/16						chr2	TogoVar
MAP4K1_chr19_38582641_38622953	38590383	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	348	0.0029	-27	c.239 others(46): Show c.2397-2593_2397-2567delATATATATATATATATTTTTTTTTTT T		MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding	30/30						chr19	TogoVar
MAP6D1_chr3_183810922_183830577	183825502	AGCGCCGC others(20): Show AGCGCCGCGCCAGGCAGCACAGGCGGCT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19054.hp2 NA19054.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0021 a0004c0009t0021	a0004c0009t0021g0059 a0004c0009t0021g0059	1	462	0.0022	-27	c.19_ others(32): Show c.19_45delAGCCGCCTGTGCTGCCTGGCGCGGCGC	p.Ser others(10): Show p.Ser7_Arg15del	MAP6D1	ENSG00000180834.8	transcript	ENST00000318631.8	protein_coding	1/3	75/2064	19/600	7/199			chr3	TogoVar
MAPK8IP3_chr16_1701195_1775351	1727563	TGTGTGAG others(20): Show TGTGTGAGGTGCTGTGTCTAAGTCGTGC	T T	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18964.hp1 NA18982.hp1 NA18949.hp2 NA18964.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0008g0054 a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0008g0054	3	330	0.0091	-27	c.440 others(44): Show c.440-1547_440-1521delGTGTGAGGTGCTGTGTCTAAGTCGTGC		MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	2/31					INFO_REALIGN_3_PRIME	chr16	TogoVar
MAPK9_chr5_180228143_180297083	180293088	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	372	0.0027	-27	c.-13 others(38): Show c.-1315_-1289delTTTTTTTTTTTTTTTTTTTTTTTTTTT		MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding					1006		chr5	TogoVar
MAPKAP1_chr9_125432394_125712208	125698289	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG01168.hp1 others(48): Show HG00544.hp2 HG00621.hp2 HG01168.hp1 HG01255.hp2 HG01257.hp2 HG01358.hp1 HG01361.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02559.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03195.hp2 HG03209.hp2 HG03516.hp2 HG03540.hp1 HG04115.hp2 HG04228.hp1 NA18906.hp2 NA18939.hp1 NA18947.hp2 NA18956.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18979.hp1 NA18986.hp1 NA18988.hp2 NA18994.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0017 a0001c0002t0001	a0001c0001t0001g0081 a0001c0001t0001g0109 a0001c0001t0001g0111 others(48): Show a0001c0001t0001g0081 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0002g0036 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0013g0267 a0001c0001t0017g0293 a0001c0002t0001g0294 a0001c0002t0001g0298	51	300	0.1700	-27	c.-70 others(44): Show c.-70+8655_-70+8681delATATATATATATATATATATATATATA		MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	1/11						chr9	TogoVar
MAPT_chr17_45889554_46033334	45956565	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0149 a0002c0002t0003g0149	1	253	0.0040	-27	c.-17 others(44): Show c.-17-5755_-17-5729delATATATATATATATATATATATATATA		MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12						chr17	TogoVar
MAPT_chr17_45889554_46033334	45956567	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp1 HG02976.hp1 others(2): Show HG02818.hp1 HG02970.hp1 HG02976.hp1 HG03225.hp2 NA18906.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0009 a0001c0001 a0002c0002 a0008c0009	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0002c0002t0008 a0008c0009t0009	a0001c0001t0002g0037 a0001c0001t0009g0034 a0001c0001t0010g0052 others(2): Show a0001c0001t0002g0037 a0001c0001t0009g0034 a0001c0001t0010g0052 a0002c0002t0008g0035 a0008c0009t0009g0033	5	253	0.0198	-27	c.-17 others(44): Show c.-17-5753_-17-5727delATATATATATATATATATATATATATA		MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12						chr17	TogoVar
MAPT_chr17_45889554_46033334	45956569	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01123.hp1 others(1): Show HG01070.hp1 HG01070.hp2 HG01123.hp1 HG03225.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0013	a0001c0001 a0002c0002 a0008c0009 others(1): Show a0001c0001 a0002c0002 a0008c0009 a0013c0014	a0001c0001t0002 a0002c0002t0001 a0008c0009t0009 others(1): Show a0001c0001t0002 a0002c0002t0001 a0008c0009t0009 a0013c0014t0002	a0001c0001t0002g0142 a0002c0002t0001g0045 a0008c0009t0009g0032 others(1): Show a0001c0001t0002g0142 a0002c0002t0001g0045 a0008c0009t0009g0032 a0013c0014t0002g0049	4	253	0.0158	-27	c.-17 others(44): Show c.-17-5751_-17-5725delATATATATATATATATATATATATATA		MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12						chr17	TogoVar
MAPT_chr17_45889554_46033334	45956573	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03579.hp2 HG02965.hp1 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0013 a0001c0010t0013	a0001c0010t0013g0129 a0001c0010t0013g0208 a0001c0010t0013g0129 a0001c0010t0013g0208	2	253	0.0079	-27	c.-17 others(44): Show c.-17-5747_-17-5721delATATATATATATATATATATATATATA		MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12						chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62793179	TACCACCA others(20): Show TACCACCACCACCTCCATCACCACCACC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp2 HG01106.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0124 a0001c0001t0001g0125	2	280	0.0071	-27	c.91- others(42): Show c.91-4607_91-4581delGGTGGTGGTGATGGAGGTGGTGGTGGT		MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	2/10						chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163847549	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01496.hp2 HG02080.hp1 others(8): Show HG00438.hp2 HG01496.hp2 HG02080.hp1 HG02735.hp1 HG04115.hp1 NA18522.hp1 NA18906.hp1 NA19009.hp2 NA19030.hp1 NA19058.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0002c0004	a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 others(5): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0002t0002 a0001c0002t0003 a0001c0009t0012 a0002c0003t0001 a0002c0004t0003	a0001c0001t0006g0008 a0001c0001t0007g0049 a0001c0001t0021g0028 others(8): Show a0001c0001t0006g0008 a0001c0001t0007g0049 a0001c0001t0021g0028 a0001c0002t0002g0062 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0003g0004 a0001c0009t0012g0071 a0002c0003t0001g0005 a0002c0004t0003g0077 a0002c0004t0003g0081	11	102	0.1078	-27	c.111 others(44): Show c.111+6445_111+6471delAAAAAAAAAAAAAAAAAAAAAAAAAAA		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9						chr4	TogoVar
MARCOL_chr5_148233525_148248580	148243107	GGGGAAGC others(20): Show GGGGAAGCCAGGGTTGTCTAGCCATCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp1 HG02145.hp1 HG03225.hp1 HG01243.hp1 HG02145.hp1 HG03225.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0021 a0006c0006t0002g0022 a0006c0006t0002g0023 a0006c0006t0002g0021 a0006c0006t0002g0022 a0006c0006t0002g0023	3	418	0.0072	-27	c.725 others(34): Show c.725_751delTGTCTAGCCATCAAGGGAAGCCAGGGT	p.Leu others(13): Show p.Leu242_Gly250del	MARCOL	ENSG00000248109.3	transcript	ENST00000638089.2	protein_coding	2/2	798/1257	725/858	242/285		INFO_REALIGN_3_PRIME	chr5	TogoVar
MATCAP2_chr7_36319152_36372240	36322631	GACGGGCT others(20): Show GACGGGCTTTTCACCTTCACCTTTCACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00673.hp2 others(69): Show HG00408.hp1 HG00408.hp2 HG00673.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02293.hp1 HG02602.hp1 HG02818.hp1 HG03239.hp2 HG03453.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18944.hp2 NA18950.hp2 NA18951.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp2 NA18969.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18998.hp1 NA19004.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0006t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 others(55): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0097 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0259 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0019 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0206 a0001c0001t0005g0013 a0001c0001t0005g0040 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0006t0002g0193	72	388	0.1856	-27	c.41 others(38): Show c.4102_*4128delGGTGAAAGGTGAAGGTGAAAAGCCCGT		MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding					1520		chr7	TogoVar
MATK_chr19_3772973_3791381	3776757	AGTGGGTG others(20): Show AGTGGGTGGATGGATGAGTGGATAGTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	-27	c.13 others(38): Show c.1399_*1425delCCACTATCCACTCATCCATCCACCCAC		MATK	ENSG00000007264.15	transcript	ENST00000310132.11	protein_coding					1215		chr19	TogoVar
MAVS_chr20_3841834_3881118	3856311	CCCAAAGT others(20): Show CCCAAAGTGCTGGGATTACAGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18941.hp2 NA18985.hp1 others(1): Show HG02015.hp2 NA18941.hp2 NA18985.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0005 a0002c0002t0051 a0002c0005t0008 others(1): Show a0002c0002t0005 a0002c0002t0051 a0002c0005t0008 a0002c0005t0072	a0002c0002t0005g0046 a0002c0002t0051g0056 a0002c0005t0008g0047 others(1): Show a0002c0002t0005g0046 a0002c0002t0051g0056 a0002c0005t0008g0047 a0002c0005t0072g0069	4	420	0.0095	-27	c.118 others(44): Show c.118-1320_118-1294delAAGTGCTGGGATTACAGGCGTGAGCCA		MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
MAVS_chr20_3841834_3881118	3870634	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19065.hp2 NA19067.hp2 NA19065.hp2 NA19067.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0004 a0002c0005 a0003c0004	a0002c0005t0077 a0003c0004t0126 a0002c0005t0077 a0003c0004t0126	a0002c0005t0077g0072 a0003c0004t0126g0239 a0002c0005t0077g0072 a0003c0004t0126g0239	2	420	0.0048	-27	c.45 others(38): Show c.4503_*4529delAAAAAAAAAAAAAAAAAAAAAAAAAAA		MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	7/7				4503	INFO_REALIGN_3_PRIME	chr20	TogoVar
MAX_chr14_65070127_65107517	65089756	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp2 HG02897.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0122 a0001c0001t0008g0118 a0001c0001t0002g0122 a0001c0001t0008g0118	2	382	0.0052	-27	c.171 others(44): Show c.171+3925_171+3951delTTTTTTTTTTTTTTTTTTTTTTTTTTT		MAX	ENSG00000125952.21	transcript	ENST00000358664.9	protein_coding	3/4						chr14	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(20): Show CATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02293.hp1 HG01099.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0002g0053 a0001c0001t0001g0052 a0001c0001t0002g0053	2	298	0.0067	-27	c.212 others(46): Show c.212-28968_212-28942delTATATATATATATATATATATATATA T		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1						chr3	TogoVar
MB21D2_chr3_192791815_192922856	192828593	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0077 a0001c0002t0003g0077	1	298	0.0034	-27	c.212 others(46): Show c.212-28970_212-28944delTATATATATATATATATATATATATA T		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1						chr3	TogoVar
MB21D2_chr3_192791815_192922856	192896433	AACTTCGA others(20): Show AACTTCGACCTCTGGGCCACAAGTGATC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0248	1	298	0.0034	-27	c.211 others(46): Show c.211+21170_211+21196delGATCACTTGTGGCCCAGAGGTCGAAG T		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1						chr3	TogoVar
MBD5_chr2_148016091_148521971	148389248	AAACATAT others(20): Show AAACATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp2 HG03139.hp2 HG02647.hp2 HG02818.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0007g0161 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0007g0161	3	188	0.0160	-27	c.-55 others(48): Show c.-557+46914_-557+46940delACATATATATATATATATATATAT ATA		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBNL3_chrX_132364320_132494038	132408092	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	191	0.0052	-27	c.178 others(44): Show c.178-1727_178-1701delAAAAAAAAAAAAAAAAAAAAAAAAAAA		MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	2/8						chrX	TogoVar
MBOAT7_chr19_54168415_54194580	54168779	CTTTCTTT others(20): Show CTTTCTTTTCTTTTCTTTCTTTTCTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01928.hp2 NA18959.hp1 others(2): Show HG00609.hp1 HG01928.hp2 NA18959.hp1 NA19009.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0001 a0001c0002t0001 a0002c0004t0001	a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0224 others(2): Show a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0224 a0001c0002t0001g0305 a0002c0004t0001g0073	5	373	0.0134	-27	c.52 others(38): Show c.5238_*5264delAAAAGAAAAGAAAGAAAAGAAAAGAAA		MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding					4635		chr19	TogoVar
MBTD1_chr17_51172425_51265049	51183049	AGTGCTGG others(20): Show AGTGCTGGGATTACAGGCGTGAGCCACC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0251 a0001c0001t0047g0251	1	340	0.0029	-27	c.176 others(46): Show c.1769-2382_1769-2356delGGTGGCTCACGCCTGTAATCCCAGCA C		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16						chr17	TogoVar
MBTPS1_chr16_84048763_84121942	84051191	CCGCATAT others(20): Show CCGCATATAGGTAAGGAGAGCTGCAAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0049 a0001c0004t0002g0049	1	424	0.0024	-27	c.32 others(38): Show c.3231_*3257delCCTTGCAGCTCTCCTTACCTATATGCG		MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding					2571		chr16	TogoVar
MC1R_chr16_89913862_89925972	89913981	CGTGTGTG others(20): Show CGTGTGTGCACGTGTGTGGGTAAACATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	396	0.0025	-27	c.-52 others(38): Show c.-5277_-5251delGTGTGTGCACGTGTGTGGGTAAACATT		MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding					4880		chr16	TogoVar
MCCC1_chr3_183010218_183104496	183102758	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	344	0.0029	-27	c.-33 others(38): Show c.-3345_-3319delAAAAAAAAAAAAAAAAAAAAAAAAAAA		MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding					3263		chr3	TogoVar
MCCD1_chr6_31523962_31535232	31525296	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG02027.hp1 others(2): Show HG00408.hp2 HG00597.hp2 HG02027.hp1 HG02056.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0005 a0001c0003t0005g0005	5	445	0.0112	-27	c.-37 others(38): Show c.-3718_-3692delTTTTTTTTTTTTTTTTTTTTTTTTTTT		MCCD1	ENSG00000204511.3	transcript	ENST00000376191.3	protein_coding					3665		chr6	TogoVar
MCC_chr5_113017106_113493453	113214998	ACCATTTC others(20): Show ACCATTTCCCTTACTTGGAACACAATCC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01243.hp1 others(20): Show HG00741.hp2 HG01074.hp1 HG01243.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03225.hp2 NA18522.hp1 NA21309.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0010	a0001c0007 a0001c0009 a0001c0010 others(15): Show a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0017 a0001c0018 a0001c0021 a0001c0023 a0001c0024 a0001c0028 a0001c0043 a0001c0044 a0003c0015 a0003c0020 a0003c0031 a0005c0032 a0005c0033 a0010c0046	a0001c0007t0006 a0001c0009t0008 a0001c0010t0018 others(16): Show a0001c0007t0006 a0001c0009t0008 a0001c0010t0018 a0001c0011t0004 a0001c0017t0006 a0001c0018t0007 a0001c0021t0008 a0001c0023t0010 a0001c0023t0040 a0001c0024t0009 a0001c0028t0043 a0001c0043t0021 a0001c0044t0010 a0003c0015t0036 a0003c0020t0020 a0003c0031t0021 a0005c0032t0046 a0005c0033t0016 a0010c0046t0039	a0001c0007t0006g0078 a0001c0009t0008g0110 a0001c0009t0008g0111 others(20): Show a0001c0007t0006g0078 a0001c0009t0008g0110 a0001c0009t0008g0111 a0001c0010t0018g0049 a0001c0011t0004g0048 a0001c0011t0004g0051 a0001c0011t0004g0054 a0001c0017t0006g0055 a0001c0018t0007g0104 a0001c0018t0007g0105 a0001c0021t0008g0058 a0001c0023t0010g0059 a0001c0023t0040g0057 a0001c0024t0009g0056 a0001c0028t0043g0079 a0001c0043t0021g0043 a0001c0044t0010g0053 a0003c0015t0036g0018 a0003c0020t0020g0004 a0003c0031t0021g0003 a0005c0032t0046g0006 a0005c0033t0016g0005 a0010c0046t0039g0060	23	160	0.1438	-27	c.628 others(46): Show c.628-63603_628-63577delGGATTGTGTTCCAAGTAAGGGAAATG G		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18						chr5	TogoVar
MCC_chr5_113017106_113493453	113215026	CCATTTCC others(20): Show CCATTTCCCTTACCTGGAACACAATCCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02895.hp2 HG02922.hp1 others(2): Show HG02257.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0001c0009 a0003c0006 a0001c0007 a0001c0009 a0003c0006	a0001c0007t0006 a0001c0007t0020 a0001c0007t0034 others(2): Show a0001c0007t0006 a0001c0007t0020 a0001c0007t0034 a0001c0009t0008 a0003c0006t0017	a0001c0007t0006g0102 a0001c0007t0020g0103 a0001c0007t0034g0073 others(2): Show a0001c0007t0006g0102 a0001c0007t0020g0103 a0001c0007t0034g0073 a0001c0009t0008g0072 a0003c0006t0017g0023	5	160	0.0313	-27	c.628 others(46): Show c.628-63631_628-63605delAGGATTGTGTTCCAGGTAAGGGAAAT G		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18						chr5	TogoVar
MCC_chr5_113017106_113493453	113299292	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01496.hp1 NA19043.hp1 HG01167.hp2 HG01496.hp1 NA19043.hp1	a0001 a0009 a0001 a0009	a0001c0008 a0001c0021 a0009c0049 a0001c0008 a0001c0021 a0009c0049	a0001c0008t0004 a0001c0021t0008 a0009c0049t0001 a0001c0008t0004 a0001c0021t0008 a0009c0049t0001	a0001c0008t0004g0066 a0001c0021t0008g0058 a0009c0049t0001g0080 a0001c0008t0004g0066 a0001c0021t0008g0058 a0009c0049t0001g0080	3	160	0.0188	-27	c.627 others(46): Show c.627+41200_627+41226delTTTTTTTTTTTTTTTTTTTTTTTTTT T		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18						chr5	TogoVar

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