Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MARCHF3_chr5_126862714_127035558	127022784	T T	TTAAACAT others(24): Show TTAAACATTTAAGTACCTCCTAGGCTTAACCA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0072	1	296	0.0034	31	c.-57 others(48): Show c.-57+7535_-57+7565dupTGGTTAAGCCTAGGAGGTACTTAAATGT TTA	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	1/4			chr5	TogoVar
MARK3_chr14_103380415_103508831	103382182	A A	AGAAGGAA others(24): Show AGAAGGAAGGAAGGAAGGAAGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02723.hp1 others(7): Show HG01891.hp1 HG02109.hp1 HG02723.hp1 HG02970.hp1 HG03139.hp2 HG03225.hp1 HG03540.hp1 HG03579.hp1 NA18906.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0014 a0002c0002t0001 a0001c0003t0014 a0002c0002t0001	a0001c0003t0014g0104 a0002c0002t0001g0195 a0002c0002t0001g0196 others(7): Show a0001c0003t0014g0104 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207	10	348	0.0287	31	c.-38 others(42): Show c.-3848_-3847insGAAGGAAGGAAGGAAGGAAGAAGGAAGGAAG	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding		3232		chr14	TogoVar
MARK3_chr14_103380415_103508831	103467674	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA20905.hp2 NA18612.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0049 a0001c0001t0003g0034 a0001c0001t0001g0049 a0001c0001t0003g0034	2	348	0.0058	31	c.111 others(48): Show c.1111-336_1111-335insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MAST2_chr1_45798612_46041122	45888663	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02055.hp2 HG01934.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0187 a0001c0001t0001g0145 a0001c0001t0001g0187	2	288	0.0069	31	c.500 others(48): Show c.500+6274_500+6304dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MATN2_chr8_97864064_98041724	97988165	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0240 a0001c0017t0005g0240	1	318	0.0031	31	c.108 others(50): Show c.1082-6315_1082-6314insTATATATATATATATATATATATATA TATAT	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18			chr8	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG02572.hp1 others(1): Show HG00733.hp1 HG00738.hp2 HG02572.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0014 a0002c0031 a0001c0014 a0002c0031	a0001c0014t0002 a0002c0031t0002 a0001c0014t0002 a0002c0031t0002	a0001c0014t0002g0008 a0001c0014t0002g0014 a0001c0014t0002g0045 others(1): Show a0001c0014t0002g0008 a0001c0014t0002g0014 a0001c0014t0002g0045 a0002c0031t0002g0127	4	318	0.0126	31	c.108 others(50): Show c.1082-6308_1082-6307insAAAAAAAAAAAAATATATATATATAT ATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03139.hp1 HG03540.hp2 HG03098.hp2 HG03139.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0020 a0002c0031 a0001c0020 a0002c0031	a0001c0020t0002 a0002c0031t0002 a0001c0020t0002 a0002c0031t0002	a0001c0020t0002g0141 a0001c0020t0002g0143 a0002c0031t0002g0142 a0001c0020t0002g0141 a0001c0020t0002g0143 a0002c0031t0002g0142	3	318	0.0094	31	c.108 others(50): Show c.1082-6308_1082-6307insAAAAAAAAAAATATATATATATATAT ATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN3_chr2_19987052_20017668	20010067	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02148.hp1 NA18943.hp1 HG01978.hp2 HG02148.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0287 a0001c0001t0001g0059 a0001c0001t0001g0287	3	432	0.0069	31	c.223 others(48): Show c.223+2341_223+2342insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19081.hp2 NA19043.hp2 NA19081.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0006 a0002c0003 a0005c0006	a0002c0003t0001 a0005c0006t0001 a0002c0003t0001 a0005c0006t0001	a0002c0003t0001g0214 a0005c0006t0001g0093 a0002c0003t0001g0214 a0005c0006t0001g0093	2	422	0.0047	31	c.-34 others(46): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MBD5_chr2_148016091_148521971	148288399	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	188	0.0053	31	c.-67 others(52): Show c.-679-53800_-679-53799insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148296864	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19030.hp2 HG03471.hp2 NA19030.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0020 a0006c0010t0002 a0001c0001t0020 a0006c0010t0002	a0001c0001t0020g0109 a0006c0010t0002g0004 a0001c0001t0020g0109 a0006c0010t0002g0004	2	188	0.0106	31	c.-67 others(52): Show c.-679-45330_-679-45329insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBIP_chr14_36293564_36325637	36294279	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0015 a0002c0002t0006g0015	1	312	0.0032	31	c.48 others(42): Show c.4803_*4804insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MBIP	ENSG00000151332.20	transcript	ENST00000416007.9	protein_coding		4284		chr14	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01255.hp1 HG02027.hp2 others(3): Show HG00438.hp2 HG01255.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0162 others(3): Show a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0162 a0001c0001t0002g0105 a0001c0001t0002g0136 a0001c0001t0002g0137	6	254	0.0236	31	c.174 others(50): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBOAT4_chr8_30126671_30149665	30143347	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0054 a0001c0005t0001g0054	1	380	0.0026	31	c.119 others(48): Show c.119+1135_119+1136insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	MBOAT4	ENSG00000177669.4	transcript	ENST00000320542.4	protein_coding	1/2			chr8	TogoVar
MBP_chr18_76973833_77137783	77081814	A A	ATATACAC others(24): Show ATATACACACACACACATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0206 a0001c0001t0011g0206	1	396	0.0025	31	c.52- others(48): Show c.52-15430_52-15429insGTGTGTGTATATATATGTGTGTGTGTGT ATA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77081823	C C	CACACACA others(24): Show CACACACACATATATATACACACACTATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(166): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18973.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0002c0006 a0004c0007 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0001t0038 a0001c0001t0046 a0001c0001t0047 a0001c0001t0053 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0020 a0001c0002t0021 a0001c0002t0027 a0001c0002t0028 a0001c0002t0048 a0001c0003t0010 a0001c0003t0024 a0001c0003t0025 a0002c0005t0021 a0002c0005t0040 a0002c0006t0001 a0002c0006t0005 a0004c0007t0001 a0005c0008t0011 a0005c0008t0012	a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0027 others(164): Show a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0087 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0002g0248 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0274 a0001c0001t0002g0294 a0001c0001t0002g0311 a0001c0001t0002g0328 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0042 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0101 a0001c0001t0003g0114 a0001c0001t0003g0124 a0001c0001t0003g0131 a0001c0001t0003g0151 a0001c0001t0003g0169 a0001c0001t0003g0173 a0001c0001t0003g0182 a0001c0001t0003g0201 a0001c0001t0004g0023 a0001c0001t0004g0033 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0043 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0049 a0001c0001t0004g0057 a0001c0001t0004g0168 a0001c0001t0005g0001 a0001c0001t0005g0234 a0001c0001t0005g0255 a0001c0001t0005g0263 a0001c0001t0005g0277 a0001c0001t0005g0280 a0001c0001t0005g0292 a0001c0001t0005g0298 a0001c0001t0005g0308 a0001c0001t0005g0314 a0001c0001t0005g0319 a0001c0001t0005g0321 a0001c0001t0006g0229 a0001c0001t0006g0233 a0001c0001t0006g0243 a0001c0001t0006g0250 a0001c0001t0006g0270 a0001c0001t0006g0295 a0001c0001t0006g0299 a0001c0001t0006g0306 a0001c0001t0006g0310 a0001c0001t0006g0312 a0001c0001t0006g0322 a0001c0001t0006g0323 a0001c0001t0007g0333 a0001c0001t0007g0358 a0001c0001t0007g0362 a0001c0001t0007g0374 a0001c0001t0008g0344 a0001c0001t0008g0352 a0001c0001t0008g0353 a0001c0001t0008g0355 a0001c0001t0008g0367 a0001c0001t0008g0375 a0001c0001t0008g0384 a0001c0001t0009g0034 a0001c0001t0009g0080 a0001c0001t0009g0128 a0001c0001t0009g0152 a0001c0001t0009g0180 a0001c0001t0010g0069 a0001c0001t0011g0165 a0001c0001t0011g0213 a0001c0001t0013g0146 a0001c0001t0014g0254 a0001c0001t0014g0268 a0001c0001t0014g0278 a0001c0001t0015g0343 a0001c0001t0017g0008 a0001c0001t0017g0009 a0001c0001t0017g0018 a0001c0001t0017g0166 a0001c0001t0018g0222 a0001c0001t0028g0389 a0001c0001t0031g0113 a0001c0001t0033g0090 a0001c0001t0038g0059 a0001c0001t0046g0331 a0001c0001t0047g0332 a0001c0001t0053g0392 a0001c0002t0001g0019 a0001c0002t0001g0056 a0001c0002t0001g0071 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0106 a0001c0002t0001g0110 a0001c0002t0001g0127 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0187 a0001c0002t0001g0195 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0258 a0001c0002t0002g0287 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0309 a0001c0002t0002g0315 a0001c0002t0004g0111 a0001c0002t0006g0272 a0001c0002t0007g0336 a0001c0002t0007g0337 a0001c0002t0007g0345 a0001c0002t0007g0351 a0001c0002t0007g0383 a0001c0002t0008g0369 a0001c0002t0008g0377 a0001c0002t0010g0198 a0001c0002t0011g0129 a0001c0002t0012g0197 a0001c0002t0020g0231 a0001c0002t0021g0293 a0001c0002t0027g0390 a0001c0002t0028g0386 a0001c0002t0048g0361 a0001c0003t0010g0210 a0001c0003t0010g0211 a0001c0003t0024g0219 a0001c0003t0025g0228 a0002c0005t0021g0002 a0002c0005t0040g0202 a0002c0006t0001g0189 a0002c0006t0005g0320 a0004c0007t0001g0191 a0005c0008t0011g0011 a0005c0008t0012g0135	169	396	0.4268	31	c.52- others(48): Show c.52-15439_52-15438insATATATAGTGTGTGTATATATATGTGTG TGT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77081825	C C	CACACACA others(24): Show CACACACATATATATATACACACACTATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00609.hp1 others(15): Show HG00140.hp1 HG00140.hp2 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01099.hp2 HG01169.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG02083.hp2 HG02300.hp1 HG02735.hp2 NA19065.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0064 a0001c0001t0002g0239 a0001c0001t0003g0055 others(15): Show a0001c0001t0001g0064 a0001c0001t0002g0239 a0001c0001t0003g0055 a0001c0001t0003g0066 a0001c0001t0004g0078 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0247 a0001c0001t0007g0373 a0001c0001t0008g0359 a0001c0001t0009g0072 a0001c0001t0014g0317 a0001c0001t0051g0387 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0002g0249	18	396	0.0455	31	c.52- others(48): Show c.52-15441_52-15440insATATATAGTGTGTGTATATATATATGTG TGT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19086.hp1 NA19010.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0310 a0001c0001t0009g0335 a0001c0001t0009g0310 a0001c0001t0009g0335	2	340	0.0059	31	c.41 others(42): Show c.4153_*4154insATATATATATATATATATATATTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0336 a0001c0001t0017g0336	1	340	0.0029	31	c.41 others(42): Show c.4153_*4154insATATATATATATATATATATATATATTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(24): Show TTATATATATATATATATTTTATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0206 a0001c0001t0131g0206	1	340	0.0029	31	c.10 others(42): Show c.1093_*1094insTATATATATATAAAATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	340	0.0029	31	c.176 others(50): Show c.1768+1452_1768+1453insATATATATATATATATATATATATAT TTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTPS1_chr16_84048763_84121942	84058480	T T	TGGGGGGG others(24): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	424	0.0024	31	c.283 others(48): Show c.2831+821_2831+822insCCTCCCCCCCCCCCCCCCCCCCCCCCCC CCC	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding	21/22			chr16	TogoVar
MC2R_chr18_13877044_13920536	13908706	T T	TTTGTGTG others(24): Show TTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0308 a0001c0001t0003g0308	1	416	0.0024	31	c.-12 others(50): Show c.-129+6781_-129+6782insCACACACACACACACACACACACACA CACAA	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1			chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03225.hp1 HG02723.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	428	0.0047	31	c.-25 others(42): Show c.-2544_-2543insAAAAAAAAAAATATATATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCC_chr5_113017106_113493453	113327561	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0038 a0001c0007t0038	a0001c0007t0038g0076 a0001c0007t0038g0076	1	160	0.0063	31	c.627 others(50): Show c.627+12957_627+12958insATATATATATATATATATATATATAT ATATA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0326 a0001c0001t0002g0326	1	350	0.0029	31	c.42 others(42): Show c.4222_*4223insATATATATATATATATATATATATATATATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02622.hp2 HG00639.hp2 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0129 a0002c0002t0002g0243 a0001c0001t0004g0129 a0002c0002t0002g0243	2	350	0.0057	31	c.42 others(42): Show c.4222_*4223insAAAAATATATATATATATATATATATATATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCPH1_chr8_6401627_6653508	6505179	T T	TATATATA others(24): Show TATATATATATATATTCTTATGTATATATAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp1 others(62): Show HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01934.hp2 HG02004.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02273.hp1 HG02273.hp2 HG02602.hp2 HG02818.hp1 HG03669.hp1 HG03831.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18945.hp1 NA18945.hp2 NA18956.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA18994.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19070.hp1 NA19077.hp1 NA19088.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0014 a0016 a0039	a0001c0001 a0001c0021 a0001c0022 others(15): Show a0001c0001 a0001c0021 a0001c0022 a0001c0090 a0002c0002 a0002c0008 a0002c0023 a0002c0036 a0002c0067 a0003c0003 a0003c0005 a0003c0031 a0004c0006 a0005c0004 a0007c0013 a0014c0025 a0016c0020 a0039c0087	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0021t0001 a0001c0022t0005 a0001c0090t0059 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0013 a0002c0002t0020 a0002c0002t0021 a0002c0008t0001 a0002c0008t0005 a0002c0008t0041 a0002c0023t0002 a0002c0023t0063 a0002c0036t0001 a0002c0036t0002 a0002c0067t0002 a0003c0003t0003 a0003c0003t0006 a0003c0003t0010 a0003c0003t0049 a0003c0005t0006 a0003c0005t0017 a0003c0031t0003 a0003c0031t0010 a0004c0006t0034 a0005c0004t0001 a0005c0004t0002 a0005c0004t0039 a0007c0013t0003 a0014c0025t0003 a0016c0020t0001 a0039c0087t0004	a0001c0001t0001g0007 a0001c0001t0001g0154 a0001c0001t0001g0155 others(62): Show a0001c0001t0001g0007 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0002g0016 a0001c0001t0002g0181 a0001c0001t0005g0008 a0001c0001t0005g0024 a0001c0001t0012g0010 a0001c0001t0012g0146 a0001c0001t0012g0193 a0001c0021t0001g0217 a0001c0022t0005g0105 a0001c0090t0059g0228 a0002c0002t0001g0195 a0002c0002t0002g0009 a0002c0002t0002g0015 a0002c0002t0002g0018 a0002c0002t0002g0076 a0002c0002t0002g0151 a0002c0002t0002g0167 a0002c0002t0005g0077 a0002c0002t0013g0192 a0002c0002t0020g0017 a0002c0002t0021g0201 a0002c0008t0001g0169 a0002c0008t0005g0019 a0002c0008t0005g0023 a0002c0008t0005g0150 a0002c0008t0041g0206 a0002c0023t0002g0087 a0002c0023t0063g0088 a0002c0036t0001g0196 a0002c0036t0002g0188 a0002c0067t0002g0106 a0003c0003t0003g0006 a0003c0003t0003g0030 a0003c0003t0003g0065 a0003c0003t0003g0068 a0003c0003t0003g0075 a0003c0003t0003g0165 a0003c0003t0003g0166 a0003c0003t0003g0185 a0003c0003t0003g0186 a0003c0003t0003g0197 a0003c0003t0006g0156 a0003c0003t0010g0013 a0003c0003t0049g0149 a0003c0005t0006g0012 a0003c0005t0017g0184 a0003c0031t0003g0153 a0003c0031t0010g0255 a0004c0006t0034g0084 a0005c0004t0001g0085 a0005c0004t0001g0091 a0005c0004t0001g0244 a0005c0004t0002g0082 a0005c0004t0039g0245 a0007c0013t0003g0194 a0014c0025t0003g0086 a0016c0020t0001g0258 a0039c0087t0004g0141	65	262	0.2481	31	c.221 others(50): Show c.2214+5262_2214+5263insATTCTTATGTATATATAGAATATATA TATAT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6562552	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0019 a0019	a0019c0056 a0019c0056	a0019c0056t0015 a0019c0056t0015	a0019c0056t0015g0222 a0019c0056t0015g0222	1	262	0.0038	31	c.221 others(52): Show c.2215-58883_2215-58882insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP2_chr15_94226561_94488952	94267869	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	276	0.0036	31	c.-65 others(50): Show c.-65-30318_-65-30317insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MDGA1_chr6_37625679_37702883	37701163	A A	AAATATAT others(24): Show AAATATATATATATATATATGTGTGTGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 NA18982.hp1 NA19009.hp1 HG04199.hp1 NA18982.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0066 a0001c0002t0063 a0001c0001t0013 a0001c0001t0066 a0001c0002t0063	a0001c0001t0013g0062 a0001c0001t0066g0075 a0001c0002t0063g0041 a0001c0001t0013g0062 a0001c0001t0066g0075 a0001c0002t0063g0041	3	402	0.0075	31	c.-43 others(42): Show c.-4353_-4352insATATACACACACATATATATATATATATATT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		3281		chr6	TogoVar
MDP1_chr14_24208943_24221066	24209057	G G	GAAAGCTA others(24): Show GAAAGCTACTTGCTCCTTCCATTCCAAGTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00597.hp2 others(49): Show HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG01123.hp1 HG01243.hp2 HG02027.hp1 HG02040.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG02257.hp2 HG02523.hp2 HG02572.hp1 HG02897.hp2 HG02922.hp1 HG03540.hp2 HG03669.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18959.hp2 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19058.hp2 NA19065.hp2 NA19068.hp1 NA19072.hp2 NA19085.hp2 NA19086.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0035	52	404	0.1287	31	c.49 others(42): Show c.4966_*4967insGCTACTTGGAATGGAAGGAGCAAGTAGCTTT	MDP1	ENSG00000213920.9	transcript	ENST00000288087.12	protein_coding		4885		chr14	TogoVar
MDP1_chr14_24208943_24221066	24209057	G G	GAAAGCTA others(24): Show GAAAGCTACTTGCTCCTTCCATTCCGAGTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp1 others(66): Show HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01346.hp2 HG01361.hp1 HG01884.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02683.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18989.hp1 NA18994.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19006.hp2 NA19056.hp1 NA19058.hp1 NA19072.hp1 NA19077.hp1 NA19082.hp1 NA19086.hp1 NA19088.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0004c0005t0004	a0001c0001t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0006 others(9): Show a0001c0001t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0028 a0002c0004t0001g0030 a0004c0005t0004g0023	69	404	0.1708	31	c.49 others(42): Show c.4966_*4967insGCTACTCGGAATGGAAGGAGCAAGTAGCTTT	MDP1	ENSG00000213920.9	transcript	ENST00000288087.12	protein_coding		4885		chr14	TogoVar
ME1_chr6_83205402_83436051	83237274	A A	AGAAAGAA others(24): Show AGAAAGAAAGAAAGAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(35): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01255.hp1 HG01346.hp1 HG01358.hp2 HG01515.hp2 HG02074.hp2 HG02083.hp1 HG02559.hp2 HG02572.hp1 HG02698.hp1 HG02723.hp1 HG02970.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 NA18959.hp1 NA18965.hp1 NA18968.hp2 NA18975.hp2 NA18994.hp1 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0005 a0007c0009 a0001c0001 a0001c0005 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0005t0002 a0007c0009t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 others(35): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0119 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0003g0242 a0001c0001t0003g0247 a0001c0001t0003g0255 a0001c0001t0003g0262 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0010g0225 a0001c0005t0002g0024 a0001c0005t0002g0028 a0007c0009t0001g0088	38	272	0.1397	31	c.102 others(48): Show c.1026+442_1026+443insCTTCCTTTCTTTCTTTCTCTTTCTTTCT TTC	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83237274	A A	AGAAAGAA others(24): Show AGAAAGAAAGAGAAAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03453.hp2 NA19030.hp1 HG01884.hp1 HG03453.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0015 a0001c0003t0004g0151 a0001c0003t0004g0211 a0001c0003t0001g0015 a0001c0003t0004g0151 a0001c0003t0004g0211	3	272	0.0110	31	c.102 others(48): Show c.1026+442_1026+443insCTTCCTTTCTTTCTTTCTTTCTCTTTCT TTC	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13			chr6	TogoVar
MED12L_chr3_151080664_151441653	151106308	T T	TTTCCTTC others(24): Show TTTCCTTCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0033 a0001c0020t0033	a0001c0020t0033g0023 a0001c0020t0033g0023	1	280	0.0036	31	c.100 others(50): Show c.100-10030_100-10029insTTCCTTCTCCCCTCCCCTCCCCTCCC CTCCC	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	2/44			chr3	TogoVar
MED13L_chr12_115953576_116282693	116031759	A A	AGAAAAGA others(24): Show AGAAAAGAAAAGAAAAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	254	0.0039	31	c.480 others(48): Show c.480-9159_480-9158insCTTCCTTCCTTCTTTCTTTTCTTTTCTT TTC	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116096354	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18977.hp1 HG01261.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0235 a0001c0001t0006g0013 a0001c0001t0001g0235 a0001c0001t0006g0013	2	254	0.0079	31	c.479 others(46): Show c.479+314_479+315insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED16_chr19_862963_898187	865824	T T	TATGGTGC others(24): Show TATGGTGCTGGCGCGTGAGCTGCTGCATCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	56	0.0179	31	c.22 others(42): Show c.2276_*2277insCCGGATGCAGCAGCTCACGCGCCAGCACCAT	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		2138		chr19	TogoVar
MED17_chr11_93779282_93819963	93814221	G G	GGTACGTC others(24): Show GGTACGTCGCTGTAGTGAGTAGCCAGTACCGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0077 a0001c0001t0026g0077	1	320	0.0031	31	c.21 others(42): Show c.2158_*2188dupGTACGTCGCTGTAGTGAGTAGCCAGTACCGA	MED17	ENSG00000042429.12	transcript	ENST00000251871.9	protein_coding	12/12	2189	INFO_REALIGN_3_PRIME	chr11	TogoVar
MED19_chr11_57698710_57717215	57702437	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	380	0.0026	31	c.16 others(42): Show c.1600_*1601insATATATATATATATATATATATATATATATT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1272		chr11	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02559.hp1 HG02896.hp2 others(7): Show HG01255.hp1 HG02559.hp1 HG02896.hp2 HG02970.hp2 HG03471.hp1 NA18948.hp1 NA18961.hp1 NA18990.hp2 NA19063.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0055 a0001c0001t0001g0182 a0001c0001t0001g0216 others(7): Show a0001c0001t0001g0055 a0001c0001t0001g0182 a0001c0001t0001g0216 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0248 a0001c0001t0002g0022	10	274	0.0365	31	c.480 others(50): Show c.480-26910_480-26909insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CACAAAAA others(24): Show CACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0273 a0002c0002t0001g0273	1	274	0.0037	31	c.480 others(50): Show c.480-26910_480-26909insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED9_chr17_17472000_17498221	17494875	T T	TGGGGGGA others(24): Show TGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0001 a0000c0004t0001	a0000c0004t0001g0077 a0000c0004t0001g0077	1	404	0.0025	31	c.33 others(42): Show c.3380_*3381insGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGG	MED9	ENSG00000141026.6	transcript	ENST00000268711.4	protein_coding		1655		chr17	TogoVar
MEI4_chr6_77648039_77932045	77680115	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0228 a0001c0001t0007g0228	1	360	0.0028	31	c.-14 others(50): Show c.-14-10529_-14-10528insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEI4_chr6_77648039_77932045	77680128	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG01106.hp2 others(7): Show HG00423.hp2 HG00544.hp2 HG01106.hp2 HG01358.hp2 HG01515.hp1 HG01517.hp1 HG04199.hp2 NA18954.hp1 NA18975.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0005c0005t0001 a0001c0001t0001 a0001c0001t0003 a0005c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0098 a0001c0001t0001g0122 a0001c0001t0003g0022 a0005c0005t0001g0013	10	360	0.0278	31	c.-14 others(50): Show c.-14-10529_-14-10528insAAAAAAAAAAAAAAAAAAAAAAAAAA AAATA	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEIG1_chr10_14954388_14977857	14972783	G G	GGTATCTG others(24): Show GGTATCTGTAAGTCTGTAGATGGCTGAGAATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0094 a0002c0002t0004g0094	1	442	0.0023	31	c.14 others(40): Show c.149_*150insTAAGTCTGTAGATGGCTGAGAATTGTATCTG	MEIG1	ENSG00000197889.10	transcript	ENST00000407572.6	protein_coding	3/3	150	INFO_REALIGN_3_PRIME	chr10	TogoVar
MEIOB_chr16_1828986_1877164	1842623	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG01192.hp2 others(12): Show HG00733.hp1 HG01175.hp2 HG01192.hp2 HG02572.hp2 HG03491.hp1 HG03492.hp1 HG04199.hp1 NA18941.hp1 NA18948.hp1 NA18950.hp2 NA18964.hp2 NA18968.hp1 NA18998.hp2 NA19065.hp1 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0101 others(12): Show a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0002c0002t0001g0028 a0002c0002t0001g0046	15	380	0.0395	31	c.881 others(46): Show c.881-651_881-650insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	MEIOB	ENSG00000162039.18	transcript	ENST00000325962.9	protein_coding	10/13			chr16	TogoVar
MEIOC_chr17_44651468_44680801	44651854	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATGTATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01952.hp2 NA18954.hp2 HG01943.hp1 HG01952.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0175 a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0175	3	352	0.0085	31	c.-47 others(42): Show c.-4760_-4759insTATATATATATATATATATATATATGTATGT	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding		4613		chr17	TogoVar
MEIOC_chr17_44651468_44680801	44651856	A A	ATATATAT others(24): Show ATATATATATATATATATATATATGTATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG01258.hp2 others(2): Show HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0177 a0001c0001t0001g0183 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0224	5	352	0.0142	31	c.-47 others(42): Show c.-4758_-4757insTATATATATATATATATATATATGTATGTAT	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding		4611		chr17	TogoVar

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