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	cds cds pos length	aa aa pos length	distance	status	chr	external
LSG1_chr3_194635791_194677191	194645495	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACAGACAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00733.hp1 others(14): Show HG00099.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG01099.hp2 HG01243.hp2 HG01358.hp1 HG01943.hp2 HG01952.hp2 HG02257.hp1 HG02293.hp1 HG02965.hp2 HG03225.hp2 HG04184.hp2 NA18945.hp2 NA18975.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0028 a0001c0001t0038 a0001c0003t0003 a0002c0002t0001 a0002c0002t0007 a0002c0002t0034 a0002c0002t0043 a0003c0004t0018	a0001c0001t0001g0251 a0001c0001t0009g0098 a0001c0001t0011g0270 others(14): Show a0001c0001t0001g0251 a0001c0001t0009g0098 a0001c0001t0011g0270 a0001c0001t0028g0284 a0001c0001t0038g0257 a0001c0001t0038g0283 a0001c0003t0003g0163 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0318 a0002c0002t0007g0023 a0002c0002t0034g0329 a0002c0002t0034g0330 a0002c0002t0043g0335 a0003c0004t0018g0041	17	408	0.0417	-40	c.162 others(57): Show c.1623+629_1623+668delCTGTCTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT		LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13					chr3	TogoVar
LSM7_chr19_2316521_2333586	2328544	TTCCGCCG others(33): Show TTCCGCCGCGCGCTCACCGCCATCTTGTCGCGCCGTGTGGC	T T	start_lost others(2): Show start_lost conservative_inframe_deletion splice_region_variant	HIGH	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0061 a0002c0003t0003g0061	1	436	0.0023	-40	c.-18 others(48): Show c.-18_6+16delGCCACACGGCGCGACAAGATGGCGGTGAGCGCGCGGC GGA	p.Met others(9): Show p.Met1_Ala2del	LSM7	ENSG00000130332.15	transcript	ENST00000252622.15	protein_coding	1/4	1/312	1/103			chr19	TogoVar
LSM8_chr7_118179164_118209035	118206968	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG02630.hp2 others(7): Show HG02055.hp1 HG02630.hp1 HG02630.hp2 HG02886.hp2 HG03098.hp1 HG03195.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0054 a0001c0001t0062 a0001c0002t0016 others(1): Show a0001c0001t0054 a0001c0001t0062 a0001c0002t0016 a0001c0002t0044	a0001c0001t0054g0009 a0001c0001t0062g0038 a0001c0002t0016g0009 others(2): Show a0001c0001t0054g0009 a0001c0001t0062g0038 a0001c0002t0016g0009 a0001c0002t0016g0037 a0001c0002t0044g0009	10	414	0.0242	-40	c.14 others(53): Show c.14967_*15006delTATATATATATATATATATATATATATATATA TATATATA		LSM8	ENSG00000128534.8	transcript	ENST00000249299.7	protein_coding				2934		chr7	TogoVar
LTBP1_chr2_32941953_33404509	33328138	TAAATAAA others(33): Show TAAATAAATAAATAAATAAATAAATAAATAAAATAAAAATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0160 a0001c0047t0001g0160	1	164	0.0061	-40	c.373 others(61): Show c.3730+12874_3730+12913delAAATAAATAAATAAATAAATAAAT AAAATAAAAATAAAAT		LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	24/33				INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP4_chr19_40596369_40634818	40625252	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp1 HG01346.hp2 others(4): Show HG00642.hp2 HG01071.hp1 HG01346.hp2 HG01952.hp2 HG02004.hp2 HG02273.hp1 NA18999.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0001 a0006c0013t0001 a0001c0001t0001 a0006c0013t0001	a0001c0001t0001g0011 a0001c0001t0001g0133 a0001c0001t0001g0261 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0133 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0006c0013t0001g0241	7	338	0.0207	-40	c.383 others(57): Show c.3833-579_3833-540delATATATATATATATATATATATATATAT ATATATATATAT		LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29				INFO_REALIGN_3_PRIME	chr19	TogoVar
LUC7L2_chr7_139354894_139428454	139383660	CCCACCTC others(33): Show CCCACCTCGGCCTTCCAAAGTGCTGGGATTACAGATGAAAG	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18963.hp2 NA19009.hp1 NA18952.hp2 NA18963.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0202 a0001c0001t0001g0218 a0001c0001t0001g0224	3	276	0.0109	-40	c.156 others(57): Show c.156+7510_156+7549delTCGGCCTTCCAAAGTGCTGGGATTACAG ATGAAAGCCACC		LUC7L2	ENSG00000146963.18	transcript	ENST00000354926.9	protein_coding	2/9				INFO_REALIGN_3_PRIME	chr7	TogoVar
LUM_chr12_91097629_91116494	91107199	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAGAGAAAGAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	384	0.0026	-40	c.862 others(55): Show c.862+879_862+918delCCTTTCTTTCTTTCTTCTTTCTCTCTTTCT TTCTTTCTTT		LUM	ENSG00000139329.5	transcript	ENST00000266718.5	protein_coding	2/2					chr12	TogoVar
LUM_chr12_91097629_91116494	91107283	GAAAGAGA others(33): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01358.hp1 HG02165.hp2 HG01255.hp1 HG01358.hp1 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0062 a0001c0002t0002g0030 a0001c0002t0002g0062	3	384	0.0078	-40	c.862 others(55): Show c.862+795_862+834delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTTT		LUM	ENSG00000139329.5	transcript	ENST00000266718.5	protein_coding	2/2					chr12	TogoVar
LUM_chr12_91097629_91116494	91107309	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01256.hp2 HG02735.hp1 others(4): Show HG00408.hp2 HG01256.hp2 HG02735.hp1 NA18967.hp1 NA18982.hp1 NA19006.hp1 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0031 a0001c0002t0002g0060 a0001c0002t0002g0063 others(3): Show a0001c0002t0002g0031 a0001c0002t0002g0060 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0010g0064	7	384	0.0182	-40	c.862 others(55): Show c.862+769_862+808delTTCCCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT		LUM	ENSG00000139329.5	transcript	ENST00000266718.5	protein_coding	2/2					chr12	TogoVar
LUZP2_chr11_24492053_25087638	24574211	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp1 HG01891.hp2 others(17): Show HG01261.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG02055.hp1 HG02083.hp2 HG02129.hp2 HG02451.hp2 HG02523.hp1 HG02717.hp2 HG02896.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp2 HG03540.hp2 HG03579.hp2 NA18612.hp1 NA19070.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0003t0015 a0001c0003t0032 a0002c0002t0001 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0003c0004t0018 a0003c0004t0036	a0001c0001t0002g0001 a0001c0001t0002g0065 a0001c0001t0002g0073 others(17): Show a0001c0001t0002g0001 a0001c0001t0002g0065 a0001c0001t0002g0073 a0001c0001t0004g0062 a0001c0001t0006g0035 a0001c0001t0006g0047 a0001c0001t0010g0037 a0001c0001t0013g0086 a0001c0003t0015g0069 a0001c0003t0032g0056 a0002c0002t0001g0011 a0002c0002t0001g0061 a0002c0002t0001g0076 a0002c0002t0001g0092 a0002c0002t0023g0022 a0002c0002t0024g0089 a0002c0002t0025g0072 a0002c0002t0026g0010 a0003c0004t0018g0098 a0003c0004t0036g0070	20	116	0.1724	-40	c.62+ others(57): Show c.62+76918_62+76957delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT		LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11				INFO_REALIGN_3_PRIME	chr11	TogoVar
LY96_chr8_73986392_74034079	73996364	CCTTCATT others(33): Show CCTTCATTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	314	0.0032	-40	c.112 others(57): Show c.112+4814_112+4853delCATTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT		LY96	ENSG00000154589.7	transcript	ENST00000284818.7	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr8	TogoVar
LY96_chr8_73986392_74034079	73996368	CATTCCTT others(33): Show CATTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00621.hp1 others(33): Show HG00408.hp1 HG00408.hp2 HG00621.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01099.hp1 HG01175.hp1 HG01496.hp1 HG02027.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03831.hp1 NA18522.hp1 NA18945.hp1 NA18959.hp1 NA18965.hp1 NA18977.hp1 NA18979.hp1 NA18986.hp2 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19079.hp1 NA19083.hp2 NA19086.hp1 NA19090.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0017 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0247 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0002g0032	36	314	0.1147	-40	c.112 others(57): Show c.112+4815_112+4854delATTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT		LY96	ENSG00000154589.7	transcript	ENST00000284818.7	protein_coding	1/4					chr8	TogoVar
LY96_chr8_73986392_74034079	73996372	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02080.hp1 HG02109.hp2 others(8): Show HG01243.hp2 HG02080.hp1 HG02109.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp1 NA18941.hp2 NA19000.hp2 NA19057.hp1 NA19088.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0274 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0303 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0002g0307	11	314	0.0350	-40	c.112 others(57): Show c.112+4847_112+4886delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT		LY96	ENSG00000154589.7	transcript	ENST00000284818.7	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr8	TogoVar
LY96_chr8_73986392_74034079	74001998	TCTTCCTT others(33): Show TCTTCCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	314	0.0032	-40	c.113 others(57): Show c.113-2790_113-2751delTCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTT		LY96	ENSG00000154589.7	transcript	ENST00000284818.7	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr8	TogoVar
LYPLA2_chr1_23786145_23800539	23790014	TGCCTCAG others(33): Show TGCCTCAGCCTCCCCCCGAGTAGCTAGGACTACAGGCGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-40	c.-12 others(51): Show c.-1262_-1223delGCCTCAGCCTCCCCCCGAGTAGCTAGGACTACAG GCGCCC		LYPLA2	ENSG00000011009.11	transcript	ENST00000374514.8	protein_coding				1130		chr1	TogoVar
LYZL2_chr10_30606779_30634753	30611562	GGAAGGAA others(33): Show GGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(29): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG00733.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02717.hp2 HG02738.hp2 HG02895.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03471.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA19030.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0022 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0249 a0001c0001t0001g0271 a0001c0001t0001g0296 a0001c0001t0001g0350 a0002c0003t0001g0054 a0002c0003t0001g0145 a0002c0003t0001g0163 a0002c0003t0001g0200 a0002c0003t0002g0008 a0002c0003t0002g0048 a0002c0003t0002g0049	32	456	0.0702	-40	c.35 others(49): Show c.353_*392delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTC CTTC		LYZL2	ENSG00000151033.10	transcript	ENST00000647634.2	protein_coding				216		chr10	TogoVar
MACF1_chr1_39199695_39492138	39234818	CTCCCAGA others(33): Show CTCCCAGACGGGGTCGCGGCTGGGCAGAGGTGCTCCTCACA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(91): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02683.hp2 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18953.hp1 NA18954.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19010.hp2 NA19080.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0007 a0011 a0017 a0025 a0032 a0039 a0041 a0044 a0046 a0051 a0052 a0053	a0001c0001 a0001c0012 a0001c0017 others(25): Show a0001c0001 a0001c0012 a0001c0017 a0001c0018 a0001c0031 a0001c0034 a0001c0036 a0001c0037 a0001c0040 a0001c0041 a0002c0003 a0002c0039 a0004c0006 a0004c0019 a0004c0035 a0004c0038 a0007c0007 a0011c0013 a0017c0020 a0025c0030 a0032c0043 a0039c0042 a0041c0033 a0044c0032 a0046c0044 a0051c0045 a0052c0046 a0053c0077	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0012t0001 a0001c0017t0001 a0001c0018t0002 a0001c0031t0001 a0001c0034t0001 a0001c0036t0002 a0001c0037t0001 a0001c0040t0001 a0001c0041t0001 a0002c0003t0002 a0002c0039t0001 a0004c0006t0001 a0004c0019t0001 a0004c0035t0001 a0004c0038t0001 a0007c0007t0001 a0007c0007t0002 a0011c0013t0001 a0017c0020t0001 a0025c0030t0001 a0032c0043t0001 a0039c0042t0001 a0041c0033t0001 a0044c0032t0001 a0046c0044t0001 a0051c0045t0012 a0052c0046t0001 a0053c0077t0001	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 others(91): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0088 a0001c0001t0006g0066 a0001c0012t0001g0058 a0001c0012t0001g0059 a0001c0012t0001g0060 a0001c0017t0001g0028 a0001c0017t0001g0029 a0001c0018t0002g0036 a0001c0018t0002g0047 a0001c0031t0001g0106 a0001c0034t0001g0090 a0001c0036t0002g0035 a0001c0037t0001g0095 a0001c0040t0001g0014 a0001c0041t0001g0072 a0002c0003t0002g0044 a0002c0003t0002g0093 a0002c0039t0001g0073 a0004c0006t0001g0049 a0004c0006t0001g0062 a0004c0006t0001g0069 a0004c0006t0001g0074 a0004c0006t0001g0075 a0004c0006t0001g0077 a0004c0006t0001g0083 a0004c0019t0001g0050 a0004c0019t0001g0052 a0004c0035t0001g0063 a0004c0038t0001g0084 a0007c0007t0001g0056 a0007c0007t0001g0081 a0007c0007t0001g0082 a0007c0007t0001g0101 a0007c0007t0002g0054 a0007c0007t0002g0057 a0011c0013t0001g0076 a0011c0013t0001g0078 a0011c0013t0001g0079 a0017c0020t0001g0085 a0017c0020t0001g0086 a0025c0030t0001g0067 a0032c0043t0001g0064 a0039c0042t0001g0021 a0041c0033t0001g0055 a0044c0032t0001g0102 a0046c0044t0001g0100 a0051c0045t0012g0022 a0052c0046t0001g0068 a0053c0077t0001g0020	94	246	0.3821	-40	c.171 others(57): Show c.171+3588_171+3627delTCGCGGCTGGGCAGAGGTGCTCCTCACA TCCCAGACGGGG		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100				INFO_REALIGN_3_PRIME	chr1	TogoVar
MAEA_chr4_1284891_1345137	1318926	CCAGGAAC others(33): Show CCAGGAACAGGACAGGAAGCTGCTGCCCAGGGAAGGCCACA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01074.hp2 others(39): Show HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01257.hp1 HG01358.hp1 HG01884.hp2 HG01978.hp2 HG02004.hp1 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02523.hp2 HG02572.hp2 HG02630.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03239.hp1 HG03490.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA18951.hp2 NA18964.hp2 NA18967.hp2 NA18974.hp2 NA18982.hp1 NA18994.hp1 NA19054.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(39): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0301 a0001c0001t0001g0302	42	388	0.1083	-40	c.456 others(57): Show c.456+3346_456+3385delTGCTGCCCAGGGAAGGCCACACAGGAAC AGGACAGGAAGC		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8				INFO_REALIGN_3_PRIME	chr4	TogoVar
MAFA_chr8_143423064_143435732	143425225	GGGGTCCA others(33): Show GGGGTCCAGGTGGGCTGTCGGGCACAGACGTGTGTGTGCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG03239.hp1 HG00597.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0005 a0001c0001t0029	a0001c0001t0005g0000 a0001c0001t0029g0000 a0001c0001t0005g0000 a0001c0001t0029g0000	2	446	0.0045	-40	c.40 others(51): Show c.4080_*4119delACGCACACACACGTCTGTGCCCGACAGCCCACCT GGACCC		MAFA	ENSG00000182759.4	transcript	ENST00000333480.3	protein_coding				2838		chr8	TogoVar
MAFA_chr8_143423064_143435732	143425242	TCGGGCAC others(33): Show TCGGGCACAGACGTGTGTGTGCGTGGGGTCCAGGTGGGCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(130): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02300.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02976.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp1 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0004c0004 a0001c0001 a0003c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0003c0002t0007 a0004c0004t0003	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(13): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0018g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0034g0000 a0001c0001t0035g0000 a0001c0001t0036g0000 a0001c0001t0038g0000 a0001c0001t0039g0000 a0003c0002t0007g0000 a0004c0004t0003g0000	133	446	0.2982	-40	c.40 others(51): Show c.4063_*4102delCAGCCCACCTGGACCCCACGCACACACACGTCTG TGCCCG		MAFA	ENSG00000182759.4	transcript	ENST00000333480.3	protein_coding				2821		chr8	TogoVar
MAGEC3_chrX_141833316_141902832	141891678	CATATATA others(33): Show CATATATAAATATATATATTTATATATGCATATATAAATAT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0000 a0004c0005t0000	a0004c0005t0000g0036 a0004c0005t0000g0036	1	298	0.0034	-40	c.910 others(57): Show c.910-3584_910-3545delAAATATATATATTTATATATGCATATAT AAATATATATAT		MAGEC3	ENSG00000165509.13	transcript	ENST00000298296.1	protein_coding	4/7				INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGI1_chr3_65348526_66043918	65950959	AGAAGGAA others(33): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03209.hp2 HG03041.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0091 a0001c0005t0001g0043 a0001c0001t0001g0091 a0001c0005t0001g0043	2	104	0.0192	-40	c.313 others(59): Show c.313+86997_313+87036delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC		MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22					chr3	TogoVar
MAGI2_chr7_78012055_79458667	78977459	CAAAGAAA others(33): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00738.hp2 others(2): Show HG00140.hp2 HG00639.hp2 HG00738.hp2 HG02451.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0013 others(1): Show a0001c0001 a0001c0010 a0001c0013 a0001c0014	a0001c0001t0002 a0001c0010t0002 a0001c0013t0001 others(1): Show a0001c0001t0002 a0001c0010t0002 a0001c0013t0001 a0001c0014t0001	a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0010t0002g0021 others(2): Show a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0010t0002g0021 a0001c0013t0001g0039 a0001c0014t0001g0030	5	40	0.1250	-40	c.418 others(59): Show c.418+29591_418+29630delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21					chr7	TogoVar
MAGI2_chr7_78012055_79458667	79028255	ATATATAT others(33): Show ATATATATATATATGTATGTATGTATATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	40	0.0250	-40	c.302 others(59): Show c.302-21089_302-21050delCACATATATATATATATACATACATA CATATATATATATA		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21					chr7	TogoVar
MALRD1_chr10_19043801_19739478	19171932	TATATATA others(33): Show TATATATATCATATAATATATGTATATATCACATATATGTG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	152	0.0066	-40	c.183 others(59): Show c.1831-3221_1831-3182delATATATGTATATATCACATATATGTG ATATATATCATATA		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	13/39				INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN1A2_chr1_117362449_117533872	117409428	GTACTTCA others(33): Show GTACTTCACATAATTTTCATTCTTTTAAATTATTTTTGGTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00639.hp1 others(47): Show HG00438.hp1 HG00597.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01346.hp1 HG01884.hp2 HG02015.hp2 HG02083.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp1 HG03834.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18944.hp1 NA18948.hp1 NA18949.hp2 NA18957.hp1 NA18963.hp1 NA18968.hp1 NA18979.hp2 NA18993.hp2 NA19002.hp2 NA19007.hp1 NA19010.hp1 NA19072.hp1 NA19078.hp2 NA19079.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 others(37): Show a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0074 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0142 a0001c0003t0117 a0001c0003t0118	a0001c0001t0045g0064 a0001c0001t0045g0088 a0001c0001t0046g0098 others(47): Show a0001c0001t0045g0064 a0001c0001t0045g0088 a0001c0001t0046g0098 a0001c0001t0046g0099 a0001c0001t0047g0057 a0001c0001t0047g0058 a0001c0001t0048g0056 a0001c0001t0048g0067 a0001c0001t0049g0066 a0001c0001t0049g0072 a0001c0001t0050g0092 a0001c0001t0050g0101 a0001c0001t0051g0062 a0001c0001t0051g0070 a0001c0001t0052g0084 a0001c0001t0052g0094 a0001c0001t0053g0076 a0001c0001t0053g0082 a0001c0001t0054g0063 a0001c0001t0054g0065 a0001c0001t0074g0086 a0001c0001t0112g0073 a0001c0001t0113g0075 a0001c0001t0114g0061 a0001c0001t0115g0080 a0001c0001t0116g0074 a0001c0001t0119g0091 a0001c0001t0120g0069 a0001c0001t0121g0090 a0001c0001t0122g0104 a0001c0001t0123g0093 a0001c0001t0124g0102 a0001c0001t0125g0096 a0001c0001t0126g0100 a0001c0001t0127g0078 a0001c0001t0128g0060 a0001c0001t0129g0071 a0001c0001t0130g0079 a0001c0001t0131g0059 a0001c0001t0132g0083 a0001c0001t0133g0095 a0001c0001t0134g0081 a0001c0001t0135g0085 a0001c0001t0136g0089 a0001c0001t0137g0103 a0001c0001t0138g0068 a0001c0001t0139g0087 a0001c0001t0142g0097 a0001c0003t0117g0106 a0001c0003t0118g0105	50	370	0.1351	-40	c.655 others(57): Show c.655+3785_655+3824delACTTCACATAATTTTCATTCTTTTAAAT TATTTTTGGTTT		MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	3/12				INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2A1_chr5_109684927_109874625	109832834	GGGGGCGG others(33): Show GGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02451.hp2 others(10): Show HG01891.hp2 HG02055.hp1 HG02451.hp2 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0006 a0001c0011 a0001c0018 a0001c0006 a0001c0011 a0001c0018	a0001c0006t0002 a0001c0006t0005 a0001c0006t0006 others(3): Show a0001c0006t0002 a0001c0006t0005 a0001c0006t0006 a0001c0006t0022 a0001c0011t0016 a0001c0018t0032	a0001c0006t0002g0278 a0001c0006t0002g0279 a0001c0006t0005g0281 others(10): Show a0001c0006t0002g0278 a0001c0006t0002g0279 a0001c0006t0005g0281 a0001c0006t0006g0038 a0001c0006t0006g0172 a0001c0006t0006g0285 a0001c0006t0006g0286 a0001c0006t0006g0287 a0001c0006t0006g0288 a0001c0006t0022g0035 a0001c0011t0016g0025 a0001c0011t0016g0026 a0001c0018t0032g0084	13	296	0.0439	-40	c.256 others(59): Show c.2566+9032_2566+9071delCCAGACGGGGCGGCTGCCGGGCGGAG GGGCTCCTCACTTC		MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	16/21				INFO_REALIGN_3_PRIME	chr5	TogoVar
MANBA_chr4_102625770_102765968	102625838	AATTTTAT others(33): Show AATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 NA20300.hp2 HG02280.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0152 a0001c0001t0019g0153 a0001c0001t0019g0152 a0001c0001t0019g0153	2	280	0.0071	-40	c.61 others(51): Show c.6179_*6218delAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAAT		MANBA	ENSG00000109323.11	transcript	ENST00000647097.2	protein_coding				4931		chr4	TogoVar
MANBA_chr4_102625770_102765968	102709291	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAAGAAAAGAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02970.hp2 HG02647.hp2 HG02970.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0010 a0001c0004 a0003c0010	a0001c0004t0010 a0003c0010t0016 a0001c0004t0010 a0003c0010t0016	a0001c0004t0010g0024 a0003c0010t0016g0271 a0001c0004t0010g0024 a0003c0010t0016g0271	2	280	0.0071	-40	c.673 others(57): Show c.673+5107_673+5146delTCTTTTTCTTTTCTTTTCTTCCTTCCTT CCTTCCTTCCTT		MANBA	ENSG00000109323.11	transcript	ENST00000647097.2	protein_coding	5/16					chr4	TogoVar
MANSC1_chr12_12321056_12355242	12322980	AGGGGGAG others(33): Show AGGGGGAGGGGAGGGGAGGGGGAGGGGAGGAGGGGGGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	322	0.0031	-40	c.70 others(51): Show c.7007_*7046delCTCCCCCCCCTCCTCCCCTCCCCCTCCCCTCCCC TCCCCC		MANSC1	ENSG00000111261.14	transcript	ENST00000535902.6	protein_coding				3075		chr12	TogoVar
MAP2K1_chr15_66381912_66496544	66478422	GTATATAT others(33): Show GTATATATATATACACACAGGTATATATATATACAGGTATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01515.hp1 others(5): Show HG00280.hp2 HG00639.hp1 HG01515.hp1 HG01517.hp2 HG01978.hp1 HG02145.hp2 HG02602.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0004 others(5): Show a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0006 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0012g0005	8	372	0.0215	-40	c.569 others(57): Show c.569-3318_569-3279delCACAGGTATATATATATACAGGTATATA TATATATATACA		MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10				INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2_chr2_209419047_209739112	209593759	AATATATA others(33): Show AATATATAATATAATATAATACATTATATTATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(137): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00733.hp1 HG00733.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0003 a0001c0006 others(17): Show a0001c0001 a0001c0003 a0001c0006 a0001c0013 a0001c0014 a0001c0017 a0002c0002 a0002c0005 a0002c0010 a0002c0011 a0003c0004 a0004c0007 a0005c0008 a0006c0018 a0007c0009 a0008c0015 a0009c0019 a0010c0012 a0011c0016 a0012c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0001c0003t0002 a0001c0003t0006 a0001c0003t0018 a0001c0003t0036 a0001c0006t0002 a0001c0013t0006 a0001c0014t0001 a0001c0017t0007 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0016 a0002c0002t0019 a0002c0002t0020 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0002t0032 a0002c0002t0039 a0002c0005t0008 a0002c0005t0011 a0002c0005t0027 a0002c0010t0015 a0002c0011t0037 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0026 a0003c0004t0035 a0004c0007t0010 a0004c0007t0017 a0005c0008t0013 a0005c0008t0016 a0006c0018t0001 a0007c0009t0002 a0008c0015t0002 a0009c0019t0007 a0010c0012t0038 a0011c0016t0001 a0012c0020t0040	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(137): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0063 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0095 a0001c0001t0003g0028 a0001c0001t0003g0064 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0007g0049 a0001c0001t0007g0050 a0001c0001t0025g0141 a0001c0001t0033g0007 a0001c0001t0034g0096 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0059 a0001c0003t0006g0003 a0001c0003t0006g0004 a0001c0003t0006g0023 a0001c0003t0018g0005 a0001c0003t0018g0016 a0001c0003t0036g0006 a0001c0006t0002g0056 a0001c0006t0002g0057 a0001c0006t0002g0092 a0001c0006t0002g0093 a0001c0013t0006g0073 a0001c0014t0001g0101 a0001c0017t0007g0036 a0002c0002t0004g0001 a0002c0002t0004g0118 a0002c0002t0004g0119 a0002c0002t0004g0120 a0002c0002t0004g0145 a0002c0002t0005g0033 a0002c0002t0005g0035 a0002c0002t0005g0039 a0002c0002t0005g0041 a0002c0002t0005g0046 a0002c0002t0009g0098 a0002c0002t0009g0108 a0002c0002t0009g0112 a0002c0002t0012g0034 a0002c0002t0012g0038 a0002c0002t0012g0043 a0002c0002t0013g0102 a0002c0002t0014g0113 a0002c0002t0014g0143 a0002c0002t0015g0066 a0002c0002t0016g0031 a0002c0002t0019g0040 a0002c0002t0019g0044 a0002c0002t0020g0047 a0002c0002t0020g0048 a0002c0002t0022g0100 a0002c0002t0023g0124 a0002c0002t0024g0121 a0002c0002t0028g0067 a0002c0002t0029g0061 a0002c0002t0030g0068 a0002c0002t0031g0080 a0002c0002t0032g0069 a0002c0002t0039g0051 a0002c0005t0008g0134 a0002c0005t0008g0135 a0002c0005t0008g0136 a0002c0005t0011g0071 a0002c0005t0011g0072 a0002c0005t0011g0094 a0002c0005t0027g0070 a0002c0010t0015g0065 a0002c0011t0037g0037 a0003c0004t0001g0099 a0003c0004t0002g0062 a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0091 a0003c0004t0003g0097 a0003c0004t0026g0109 a0003c0004t0035g0021 a0004c0007t0010g0148 a0004c0007t0017g0058 a0004c0007t0017g0147 a0005c0008t0013g0131 a0005c0008t0016g0024 a0006c0018t0001g0123 a0007c0009t0002g0060 a0008c0015t0002g0075 a0009c0019t0007g0042 a0010c0012t0038g0045 a0011c0016t0001g0009 a0012c0020t0040g0084	140	148	0.9460	-40	c.-10 others(61): Show c.-107+13661_-107+13700delTATATAATATAATATAATACATTA TATTATATTATATATA		MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	3/15				INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K12_chr12_53474669_53504458	53498908	CTGTGTGT others(33): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp2 HG01258.hp1 others(2): Show HG01243.hp1 HG01256.hp2 HG01258.hp1 HG03669.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0001 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0009g0126 others(2): Show a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0009g0126 a0001c0001t0011g0128 a0001c0001t0011g0129	5	328	0.0152	-40	c.-38 others(55): Show c.-38+479_-38+518delCACACACACACACACACACACACACACACA CACACACACA		MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	1/13					chr12	TogoVar
MAP3K15_chrX_19355059_19520508	19429760	AAGAGAGA others(33): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0130 a0002c0002t0007g0130	1	163	0.0061	-40	c.116 others(59): Show c.1166+1638_1166+1677delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCT		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	7/28					chrX	TogoVar
MAP3K19_chr2_134959491_135052447	134968510	GGACGGGG others(33): Show GGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02280.hp1 HG02280.hp2 others(5): Show HG01175.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02965.hp1 NA19043.hp2 NA20300.hp1	a0006 a0007 a0025 a0006 a0007 a0025	a0006c0007 a0007c0012 a0007c0024 others(1): Show a0006c0007 a0007c0012 a0007c0024 a0025c0034	a0006c0007t0001 a0006c0007t0002 a0006c0007t0006 others(3): Show a0006c0007t0001 a0006c0007t0002 a0006c0007t0006 a0007c0012t0001 a0007c0024t0001 a0025c0034t0002	a0006c0007t0001g0087 a0006c0007t0002g0104 a0006c0007t0006g0008 others(5): Show a0006c0007t0001g0087 a0006c0007t0002g0104 a0006c0007t0006g0008 a0006c0007t0006g0010 a0006c0007t0006g0011 a0007c0012t0001g0092 a0007c0024t0001g0109 a0025c0034t0002g0118	8	334	0.0240	-40	c.392 others(59): Show c.3921-3634_3921-3595delTGGGAAGTGAGGAGCGTCTCCGCCCG GCAGCCACCCCGTC		MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	12/12					chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173110217	ATATATAT others(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0104 a0001c0001t0022g0104	1	334	0.0030	-40	c.159 others(59): Show c.159+19029_159+19068delATATATATATATATATATATATATTT TTTTTTTTTTTTTT		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19				INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K4_chr6_160986769_161122380	161000814	CACACATG others(33): Show CACACATGTGTATGCACACATACACATGTGTACGCACATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02109.hp2 others(8): Show HG01884.hp2 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02559.hp2 HG02630.hp2 HG02647.hp2 HG02922.hp2 HG02970.hp2 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0142 a0001c0001t0001g0143 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0209	11	342	0.0322	-40	c.152 others(57): Show c.152+8743_152+8782delTGCACACATACACATGTGTACGCACATA TACACATGTGTA		MAP3K4	ENSG00000085511.20	transcript	ENST00000392142.9	protein_coding	1/26				INFO_REALIGN_3_PRIME	chr6	TogoVar
MAP4K1_chr19_38582641_38622953	38602429	CACATATA others(33): Show CACATATATATACACACACACATACATATATACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA20129.hp2 HG00140.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0117 a0001c0001t0001g0083 a0001c0001t0001g0117	2	348	0.0058	-40	c.144 others(57): Show c.1447-944_1447-905delATATGTGTGTATATATGTATGTGTGTGT GTATATATATGT		MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding	19/30					chr19	TogoVar
MAP7D2_chrX_20001713_20121907	20094502	ATATATAT others(33): Show ATATATATATATATGTATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	210	0.0048	-40	c.130 others(59): Show c.130+22208_130+22247delCATATATATATATATATATATATATA CATATATATATATA		MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16					chrX	TogoVar
MAP7_chr6_136337734_136555422	136456809	AGAAGAAG others(33): Show AGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	248	0.0040	-40	c.68- others(57): Show c.68-35050_68-35011delCTCTTCTTCTTCTTCTTCTTCTTCTTCC TTCTTCTTCTTC		MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17					chr6	TogoVar
MAPK1_chr22_21754657_21872645	21847709	CCTCCGCC others(33): Show CCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01257.hp1 HG01258.hp1 others(33): Show HG01109.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 others(12): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0026 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0056 a0001c0004t0007 a0001c0004t0017 a0002c0002t0050	a0001c0001t0007g0019 a0001c0001t0007g0020 a0001c0001t0007g0040 others(33): Show a0001c0001t0007g0019 a0001c0001t0007g0020 a0001c0001t0007g0040 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0048 a0001c0001t0007g0050 a0001c0001t0007g0051 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0008g0034 a0001c0001t0008g0052 a0001c0001t0010g0027 a0001c0001t0011g0035 a0001c0001t0011g0036 a0001c0001t0011g0037 a0001c0001t0011g0038 a0001c0001t0016g0021 a0001c0001t0016g0024 a0001c0001t0017g0041 a0001c0001t0021g0023 a0001c0001t0026g0293 a0001c0001t0040g0022 a0001c0001t0043g0039 a0001c0001t0044g0049 a0001c0001t0056g0028 a0001c0004t0007g0044 a0001c0004t0007g0045 a0001c0004t0007g0047 a0001c0004t0017g0046 a0002c0002t0050g0003	36	348	0.1035	-40	c.119 others(59): Show c.119+19573_119+19612delACGCTCCTCACTTCCCAGACGGGGCG GCTGCCGGGCGGAG		MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8					chr22	TogoVar
MAPKAP1_chr9_125432394_125712208	125623593	CGCCCGGC others(33): Show CGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG03225.hp2 HG01884.hp1 HG02486.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105	3	300	0.0100	-40	c.498 others(59): Show c.498+34018_498+34057delAGAGAGGCTCCTCACTTCTCAGACGG GGCAGCTGCCGGGC		MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11					chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125623605	GCCCCGTC others(33): Show GCCCCGTCTGAGAAGTGAGGAGCCTCTCTGCCCAGCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	300	0.0033	-40	c.498 others(59): Show c.498+34006_498+34045delTGGCTGCTGGGCAGAGAGGCTCCTCA CTTCTCAGACGGGG		MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11					chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125693723	ATATACAC others(33): Show ATATACACATATATACACGTATATATACACATATATACACG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	300	0.0033	-40	c.-70 others(59): Show c.-70+13208_-70+13247delCGTGTATATATGTGTATATATACGTG TATATATGTGTATA		MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	1/11					chr9	TogoVar
MAPT_chr17_45889554_46033334	45941672	CCCCTTCC others(33): Show CCCCTTCCCTCCTTCCTTCCTTCCTTCCTGCCTGCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	253	0.0040	-40	c.-17 others(59): Show c.-17-20648_-17-20609delCCCTTCCCTCCTTCCTTCCTTCCTTC CTGCCTGCCTTCCT		MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12					chr17	TogoVar
MARCHF4_chr2_216252865_216377483	216320639	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02145.hp2 others(9): Show HG01109.hp1 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03225.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0049 a0001c0002t0008	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 others(9): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0006g0165 a0001c0001t0006g0189 a0001c0001t0006g0217 a0001c0001t0006g0263 a0001c0001t0015g0003 a0001c0001t0015g0004 a0001c0001t0015g0005 a0001c0001t0049g0319 a0001c0002t0008g0214	12	330	0.0364	-40	c.517 others(59): Show c.517-36950_517-36911delAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA		MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3					chr2	TogoVar
MARCHF4_chr2_216252865_216377483	216354891	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02135.hp2 HG03139.hp1 others(1): Show HG02015.hp2 HG02135.hp2 HG03139.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0020 a0001c0002t0053 a0001c0001t0001 a0001c0002t0020 a0001c0002t0053	a0001c0001t0001g0059 a0001c0002t0020g0083 a0001c0002t0020g0084 others(1): Show a0001c0001t0001g0059 a0001c0002t0020g0083 a0001c0002t0020g0084 a0001c0002t0053g0324	4	330	0.0121	-40	c.516 others(59): Show c.516+14814_516+14853delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA		MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3					chr2	TogoVar
MARCHF5_chr10_92286167_92358964	92347495	TAGATAGA others(33): Show TAGATAGATAGATAGATAGATAGATAGATGATAGATATATA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0071 a0001c0001t0018g0071	1	306	0.0033	-40	c.370 others(57): Show c.370-1853_370-1814delAGATAGATAGATAGATAGATAGATAGAT GATAGATATATA		MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding	3/5					chr10	TogoVar
MARCHF6_chr5_10348695_10445388	10435623	CTATATAA others(33): Show CTATATAACTATATAACTATATATATATATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG01123.hp1 HG01243.hp1 others(24): Show HG00544.hp1 HG01123.hp1 HG01243.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01993.hp2 HG02027.hp1 HG02056.hp2 HG02083.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02896.hp2 HG03017.hp1 HG03130.hp2 HG03209.hp1 HG03942.hp2 HG04228.hp1 NA18949.hp1 NA18975.hp2 NA19000.hp1 NA19089.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0006	a0001c0001t0005 a0001c0001t0011 a0001c0001t0022 others(12): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0022 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0051 a0001c0001t0146 a0001c0002t0036 a0001c0002t0047 a0001c0002t0127 a0001c0002t0128 a0001c0002t0129 a0001c0005t0039 a0002c0006t0005	a0001c0001t0005g0209 a0001c0001t0005g0212 a0001c0001t0005g0234 others(24): Show a0001c0001t0005g0209 a0001c0001t0005g0212 a0001c0001t0005g0234 a0001c0001t0005g0245 a0001c0001t0005g0251 a0001c0001t0011g0002 a0001c0001t0011g0197 a0001c0001t0011g0210 a0001c0001t0011g0220 a0001c0001t0022g0172 a0001c0001t0022g0173 a0001c0001t0022g0177 a0001c0001t0038g0185 a0001c0001t0038g0222 a0001c0001t0039g0204 a0001c0001t0040g0183 a0001c0001t0040g0186 a0001c0001t0051g0240 a0001c0001t0146g0229 a0001c0002t0036g0109 a0001c0002t0036g0110 a0001c0002t0047g0119 a0001c0002t0127g0277 a0001c0002t0128g0120 a0001c0002t0129g0106 a0001c0005t0039g0260 a0002c0006t0005g0189	27	284	0.0951	-40	c.19 others(51): Show c.1946_*1985delACTATATAACTATATATATATATATATATATATA TATATA		MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26			1946	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCHF6_chr5_10348695_10445388	10435631	CTATATAA others(33): Show CTATATAACTATATATATATATATATATATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0102 a0001c0001t0114g0102	1	284	0.0035	-40	c.19 others(51): Show c.1954_*1993delACTATATATATATATATATATATATATATATATA TATATA		MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26			1954	INFO_REALIGN_3_PRIME	chr5	TogoVar

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