Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MADD_chr11_47265133_47335031	47318789	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0242	1	344	0.0029	-17	c.437 others(36): Show c.4377+3482_4377+3498delTTTTTTTTTTTTTTTTT		MADD	ENSG00000110514.20	transcript	ENST00000706887.1	protein_coding	30/36					INFO_REALIGN_3_PRIME	chr11	TogoVar
MAEA_chr4_1284891_1345137	1340361	CTGGGTGA others(10): Show CTGGGTGAATCAGACACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	388	0.0026	-17	c.11 others(28): Show c.1193_*1209delTGGGTGAATCAGACACT		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding					225		chr4	TogoVar
MAFK_chr7_1525702_1548043	1539278	GCCCCCGG others(10): Show GCCCCCGGCCCGACAGCC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02572.hp1 others(13): Show HG01109.hp1 HG01243.hp1 HG02572.hp1 HG02630.hp2 HG02717.hp1 HG02738.hp1 HG02896.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03490.hp2 HG03492.hp1 HG03831.hp1 HG06807.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0023 others(5): Show a0001c0001t0007 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0047 a0001c0001t0049 a0001c0001t0052 a0001c0001t0058	a0001c0001t0007g0016 a0001c0001t0007g0116 a0001c0001t0017g0009 others(8): Show a0001c0001t0007g0016 a0001c0001t0007g0116 a0001c0001t0017g0009 a0001c0001t0023g0114 a0001c0001t0023g0115 a0001c0001t0024g0009 a0001c0001t0024g0075 a0001c0001t0047g0038 a0001c0001t0049g0037 a0001c0001t0052g0009 a0001c0001t0058g0074	16	380	0.0421	-17	c.36+ others(28): Show c.36+53_36+69delCCCGGCCCGACAGCCCC		MAFK	ENSG00000198517.10	transcript	ENST00000343242.9	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
MAGEA2_chrX_152744863_152758842	152749264	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA19064.hp2 NA19090.hp2 NA18954.hp2 NA19064.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	191	0.0157	-17	c.11 others(28): Show c.1138_*1154delTTTTTTTTTTTTTTTTT		MAGEA2	ENSG00000268606.6	transcript	ENST00000684311.1	protein_coding					598		chrX	TogoVar
MAGEA4_chrX_151907889_151930170	151911674	TATATTTA others(10): Show TATATTTAGTGAAGACAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0039 a0002c0001t0001g0039	1	344	0.0029	-17	c.-14 others(28): Show c.-1432_-1416delATATTTAGTGAAGACAG		MAGEA4	ENSG00000147381.12	transcript	ENST00000276344.6	protein_coding					1214		chrX	TogoVar
MAGEC3_chrX_141833316_141902832	141879368	GCTACACC others(10): Show GCTACACCCTTTCCCTTC	G G	frameshift_variant frameshift_variant	HIGH	HG00639.hp1 HG01175.hp2 HG01934.hp1 others(15): Show HG00639.hp1 HG01175.hp2 HG01934.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03540.hp2 HG03834.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA20300.hp2	a0006 a0006	a0006c0006 a0006c0017 a0006c0026 others(2): Show a0006c0006 a0006c0017 a0006c0026 a0006c0027 a0006c0028	a0006c0006t0001 a0006c0017t0001 a0006c0026t0001 others(2): Show a0006c0006t0001 a0006c0017t0001 a0006c0026t0001 a0006c0027t0001 a0006c0028t0001	a0006c0006t0001g0022 a0006c0006t0001g0069 a0006c0006t0001g0216 others(15): Show a0006c0006t0001g0022 a0006c0006t0001g0069 a0006c0006t0001g0216 a0006c0006t0001g0218 a0006c0006t0001g0219 a0006c0006t0001g0233 a0006c0006t0001g0252 a0006c0006t0001g0256 a0006c0006t0001g0263 a0006c0006t0001g0264 a0006c0006t0001g0265 a0006c0017t0001g0058 a0006c0017t0001g0211 a0006c0017t0001g0212 a0006c0026t0001g0232 a0006c0026t0001g0235 a0006c0027t0001g0204 a0006c0028t0001g0203	18	298	0.0604	-17	c.455 others(24): Show c.455_471delACACCCTTTCCCTTCCT	p.Tyr others(5): Show p.Tyr152fs	MAGEC3	ENSG00000165509.13	transcript	ENST00000298296.1	protein_coding	3/8	455/1932	455/1932	152/643		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGI1_chr3_65348526_66043918	65627485	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	104	0.0096	-17	c.314 others(34): Show c.314-5414_314-5398delAAAAAAAAAAAAAAAAA		MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22						chr3	TogoVar
MAGI1_chr3_65348526_66043918	65950073	AAAAACAA others(10): Show AAAAACAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	104	0.0096	-17	c.313 others(36): Show c.313+87906_313+87922delGTTTTTTTTTTTGTTTT		MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22						chr3	TogoVar
MAGI2_chr7_78012055_79458667	78347618	TCTTAATC others(10): Show TCTTAATCACCACCATTA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03579.hp2 NA18522.hp2 others(1): Show HG02451.hp2 HG03579.hp2 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001	a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0002t0001g0026 others(1): Show a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0002t0001g0026 a0001c0004t0001g0014	4	40	0.1000	-17	c.110 others(36): Show c.1104-1592_1104-1576delTAATGGTGGTGATTAAG		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	7/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	78358195	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA18522.hp1 HG02897.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0011t0001 a0001c0002t0001 a0001c0011t0001	a0001c0002t0001g0008 a0001c0011t0001g0023 a0001c0002t0001g0008 a0001c0011t0001g0023	2	40	0.0500	-17	c.110 others(38): Show c.1103+10944_1103+10960delATATATATATATATATT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	7/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	78521177	ATATGCCA others(10): Show ATATGCCAAAAATGTTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18906.hp1 NA18906.hp2 others(4): Show NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0012t0001	a0001c0001t0001g0007 a0001c0001t0002g0006 a0001c0002t0001g0010 others(4): Show a0001c0001t0001g0007 a0001c0001t0002g0006 a0001c0002t0001g0010 a0001c0002t0001g0025 a0001c0004t0001g0016 a0001c0004t0001g0018 a0001c0012t0001g0022	7	40	0.1750	-17	c.754 others(32): Show c.754+236_754+252delAAAACATTTTTGGCATA		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	4/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	78529668	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03041.hp1 HG03130.hp1 others(2): Show HG00639.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0006 others(2): Show a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0002c0008	a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 others(2): Show a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0010t0002 a0002c0008t0001	a0001c0003t0001g0011 a0001c0004t0001g0031 a0001c0006t0001g0038 others(2): Show a0001c0003t0001g0011 a0001c0004t0001g0031 a0001c0006t0001g0038 a0001c0010t0002g0021 a0002c0008t0001g0037	5	40	0.1250	-17	c.539 others(34): Show c.539-8040_539-8024delAAAAAAAAAAAAAAAAA		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	3/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	78728540	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0039 a0001c0013t0001g0039	1	40	0.0250	-17	c.419 others(38): Show c.419-101318_419-101302delAAAAAAAAAAAAAAAAA		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	78775320	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	40	0.0250	-17	c.419 others(38): Show c.419-148098_419-148082delTTTTTTTTTTTTTTTTT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	79292770	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	40	0.0250	-17	c.301 others(38): Show c.301+160233_301+160249delTTTTTTTTTTTTTTTTT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21						chr7	TogoVar
MAGI3_chr1_113385515_113690923	113633238	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02647.hp2 HG02897.hp2 others(2): Show HG00741.hp2 HG02647.hp2 HG02897.hp2 HG03041.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 a0001c0010t0002	a0001c0001t0002g0180 a0001c0001t0003g0071 a0001c0004t0002g0183 others(2): Show a0001c0001t0002g0180 a0001c0001t0003g0071 a0001c0004t0002g0183 a0001c0004t0002g0195 a0001c0010t0002g0057	5	236	0.0212	-17	c.136 others(36): Show c.1361-8648_1361-8632delTTTTTTTTTTTTTTTTT		MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	9/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAJIN_chr11_64933230_64977108	64948639	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	384	0.0026	-17	c.350 others(32): Show c.350-837_350-821delAAAAAAAAAAAAAAAAA		MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10						chr11	TogoVar
MAJIN_chr11_64933230_64977108	64972826	GGCGGGCG others(10): Show GGCGGGCGCCTGTAGTCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	384	0.0026	-17	c.-10 others(28): Show c.-1031_-1015delGGACTACAGGCGCCCGC		MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding					719		chr11	TogoVar
MAK16_chr8_33480182_33506262	33481073	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02723.hp1 HG02738.hp1 others(2): Show HG02622.hp2 HG02723.hp1 HG02738.hp1 HG06807.hp2 NA18949.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0001c0001t0011 a0002c0002t0002 a0001c0001t0010 a0001c0001t0011 a0002c0002t0002	a0001c0001t0010g0050 a0001c0001t0011g0178 a0001c0001t0011g0179 others(2): Show a0001c0001t0010g0050 a0001c0001t0011g0178 a0001c0001t0011g0179 a0002c0002t0002g0003 a0002c0002t0002g0168	5	400	0.0125	-17	c.-41 others(28): Show c.-4133_-4117delTTTTTTTTTTTTTTTTT		MAK16	ENSG00000198042.11	transcript	ENST00000360128.11	protein_coding					4108		chr8	TogoVar
MAK16_chr8_33480182_33506262	33495685	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03471.hp1 others(2): Show HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03486.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0027 a0002c0002t0002 a0002c0002t0027	a0002c0002t0002g0028 a0002c0002t0002g0135 a0002c0002t0027g0133 a0002c0002t0002g0028 a0002c0002t0002g0135 a0002c0002t0027g0133	5	400	0.0125	-17	c.522 others(32): Show c.522+102_522+118delTTTTTTTTTTTTTTTTT		MAK16	ENSG00000198042.11	transcript	ENST00000360128.11	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr8	TogoVar
MAK_chr6_10757723_10843539	10813124	ATATATAT others(10): Show ATATATATATAAATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0192 a0001c0002t0003g0192	1	272	0.0037	-17	c.358 others(32): Show c.358+503_358+519delAAAAATTTATATATATA		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14						chr6	TogoVar
MALRD1_chr10_19043801_19739478	19108387	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0122 a0004c0015t0001g0122	1	152	0.0066	-17	c.694 others(34): Show c.694+4334_694+4350delTTTTTTTTTTTTTTTTT		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	5/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19164176	ATAAACAA others(10): Show ATAAACAATCAGAATTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03669.hp2 NA19043.hp2 others(1): Show HG01256.hp1 HG03669.hp2 NA19043.hp2 NA21309.hp1	a0040 a0084 a0094 others(1): Show a0040 a0084 a0094 a0097	a0040c0032 a0084c0030 a0094c0031 others(1): Show a0040c0032 a0084c0030 a0094c0031 a0097c0087	a0040c0032t0001 a0084c0030t0001 a0094c0031t0001 others(1): Show a0040c0032t0001 a0084c0030t0001 a0094c0031t0001 a0097c0087t0003	a0040c0032t0001g0124 a0084c0030t0001g0125 a0094c0031t0001g0136 others(1): Show a0040c0032t0001g0124 a0084c0030t0001g0125 a0094c0031t0001g0136 a0097c0087t0003g0106	4	152	0.0263	-17	c.165 others(36): Show c.1657-1456_1657-1440delCAATCAGAATTTTTAAA		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547804	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0026 a0026	a0026c0097 a0026c0097	a0026c0097t0001 a0026c0097t0001	a0026c0097t0001g0104 a0026c0097t0001g0104	1	152	0.0066	-17	c.547 others(38): Show c.5478+16455_5478+16471delATATATATATATATTTT		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MAML3_chr4_139711753_140159184	139828996	AGGAAGGA others(10): Show AGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02145.hp2 HG02486.hp2 others(3): Show HG01496.hp1 HG02145.hp2 HG02486.hp2 HG02630.hp2 HG02647.hp2 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0011 a0002c0003 others(1): Show a0001c0002 a0001c0011 a0002c0003 a0006c0007	a0001c0002t0006 a0001c0011t0002 a0002c0003t0002 others(2): Show a0001c0002t0006 a0001c0011t0002 a0002c0003t0002 a0002c0003t0022 a0006c0007t0013	a0001c0002t0006g0123 a0001c0011t0002g0013 a0002c0003t0002g0081 others(3): Show a0001c0002t0006g0123 a0001c0011t0002g0013 a0002c0003t0002g0081 a0002c0003t0002g0101 a0002c0003t0022g0150 a0006c0007t0013g0146	6	152	0.0395	-17	c.207 others(38): Show c.2079+60344_2079+60360delCTTCCTTCCTTCCTTCC		MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4						chr4	TogoVar
MAML3_chr4_139711753_140159184	139887851	TGCCTGCT others(10): Show TGCCTGCTTCAGAACTTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00642.hp2 others(44): Show HG00280.hp1 HG00280.hp2 HG00642.hp2 HG00735.hp1 HG01099.hp1 HG01109.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01981.hp2 HG02132.hp1 HG02132.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18939.hp1 NA18963.hp1 NA18966.hp2 NA18968.hp1 NA19011.hp2 NA19065.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0012 a0013	a0001c0001 a0001c0002 a0001c0010 others(12): Show a0001c0001 a0001c0002 a0001c0010 a0001c0011 a0001c0024 a0002c0003 a0003c0006 a0003c0012 a0003c0023 a0003c0025 a0004c0005 a0005c0008 a0006c0014 a0012c0017 a0013c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0033 a0001c0001t0042 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0016 a0001c0002t0026 a0001c0010t0013 a0001c0011t0002 a0001c0011t0005 a0001c0024t0002 a0002c0003t0001 a0002c0003t0046 a0003c0006t0004 a0003c0006t0008 a0003c0006t0043 a0003c0012t0004 a0003c0023t0004 a0003c0025t0038 a0004c0005t0003 a0005c0008t0002 a0005c0008t0025 a0006c0014t0013 a0012c0017t0002 a0013c0027t0041	a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0034 others(44): Show a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0002g0037 a0001c0001t0003g0050 a0001c0001t0006g0129 a0001c0001t0007g0072 a0001c0001t0007g0091 a0001c0001t0009g0121 a0001c0001t0009g0132 a0001c0001t0019g0115 a0001c0001t0020g0120 a0001c0001t0020g0126 a0001c0001t0021g0134 a0001c0001t0021g0135 a0001c0001t0028g0061 a0001c0001t0033g0033 a0001c0001t0042g0119 a0001c0002t0001g0027 a0001c0002t0001g0082 a0001c0002t0002g0093 a0001c0002t0014g0148 a0001c0002t0016g0006 a0001c0002t0016g0007 a0001c0002t0026g0002 a0001c0010t0013g0142 a0001c0011t0002g0013 a0001c0011t0005g0019 a0001c0024t0002g0075 a0002c0003t0001g0070 a0002c0003t0046g0149 a0003c0006t0004g0058 a0003c0006t0008g0127 a0003c0006t0008g0131 a0003c0006t0043g0151 a0003c0012t0004g0030 a0003c0023t0004g0105 a0003c0025t0038g0113 a0004c0005t0003g0073 a0005c0008t0002g0095 a0005c0008t0025g0003 a0006c0014t0013g0138 a0012c0017t0002g0009 a0013c0027t0041g0125	47	152	0.3092	-17	c.207 others(36): Show c.2079+1489_2079+1505delTAAGTTCTGAAGCAGGC		MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4						chr4	TogoVar
MAML3_chr4_139711753_140159184	140069543	AAGGAGGA others(10): Show AAGGAGGAGGAGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG01099.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0023 a0005c0008 a0001c0002 a0003c0023 a0005c0008	a0001c0002t0016 a0003c0023t0004 a0005c0008t0025 a0001c0002t0016 a0003c0023t0004 a0005c0008t0025	a0001c0002t0016g0006 a0001c0002t0016g0007 a0003c0023t0004g0105 others(1): Show a0001c0002t0016g0006 a0001c0002t0016g0007 a0003c0023t0004g0105 a0005c0008t0025g0003	4	152	0.0263	-17	c.468 others(36): Show c.468+83300_468+83316delCCCCTCCTCCTCCTCCT		MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4						chr4	TogoVar
MAMLD1_chrX_150358317_150519173	150403879	GAAAGAAA others(10): Show GAAAGAAAGAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03139.hp1 HG03239.hp2 others(1): Show HG00544.hp2 HG03139.hp1 HG03239.hp2 NA18984.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0001c0001t0001 a0001c0001t0002 a0003c0003t0002	a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0002g0120 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0002g0120 a0003c0003t0002g0134	4	226	0.0177	-17	c.-64 others(36): Show c.-64+40377_-64+40393delGAAAGAAAAAGAAAGAA		MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150474745	CTCACTTT others(10): Show CTCACTTTGCTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	226	0.0044	-17	c.204 others(34): Show c.2040+944_2040+960delTCACTTTGCTCTTTCTT		MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	5/7						chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150490293	AGGCTGGC others(10): Show AGGCTGGCTTGACTGGCT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0002 a0001c0001t0017g0002	1	226	0.0044	-17	c.204 others(38): Show c.2041-12979_2041-12963delGCTGGCTTGACTGGCTG		MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	5/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN1A1_chr6_119172205_119354761	119192839	TCTTTCTA others(10): Show TCTTTCTAACTTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp2 HG02976.hp1 others(1): Show HG02055.hp2 HG02970.hp2 HG02976.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 others(1): Show a0001c0002t0001g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0348	4	350	0.0114	-17	c.132 others(34): Show c.1326+921_1326+937delTAAATAAAGTTAGAAAG		MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	9/12						chr6	TogoVar
MAN1A1_chr6_119172205_119354761	119275277	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	350	0.0029	-17	c.897 others(36): Show c.897+15389_897+15405delAAAAAAAAAAAAAAAAA		MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	5/12						chr6	TogoVar
MAN2B2_chr4_6570189_6628362	6596109	CTGTCCAG others(10): Show CTGTCCAGGTGGGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0076 a0003c0076	a0003c0076t0002 a0003c0076t0002	a0003c0076t0002g0034 a0003c0076t0002g0034	1	362	0.0028	-17	c.105 others(34): Show c.1058-985_1058-969delGTCCAGGTGGGCGTGGT		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6596128	GTCCAGGT others(10): Show GTCCAGGTGGGCGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19060.hp1 HG02895.hp2 NA19060.hp1	a0001 a0049 a0001 a0049	a0001c0056 a0049c0031 a0001c0056 a0049c0031	a0001c0056t0002 a0049c0031t0001 a0001c0056t0002 a0049c0031t0001	a0001c0056t0002g0220 a0049c0031t0001g0091 a0001c0056t0002g0220 a0049c0031t0001g0091	2	362	0.0055	-17	c.105 others(34): Show c.1058-961_1058-945delTGGGCGTGGTATCCAGG		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6596176	GGGTGGGC others(10): Show GGGTGGGCGTGGCGTCCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02280.hp1 others(9): Show HG01891.hp2 HG02145.hp2 HG02280.hp1 HG02615.hp1 HG02647.hp2 HG02886.hp2 HG02965.hp1 HG03041.hp1 HG03453.hp1 HG03579.hp1 NA19030.hp2 NA20129.hp1	a0003 a0006 a0019 others(3): Show a0003 a0006 a0019 a0020 a0029 a0035	a0003c0039 a0006c0010 a0006c0021 others(5): Show a0003c0039 a0006c0010 a0006c0021 a0019c0020 a0020c0040 a0020c0075 a0029c0048 a0035c0049	a0003c0039t0002 a0006c0010t0003 a0006c0021t0001 others(5): Show a0003c0039t0002 a0006c0010t0003 a0006c0021t0001 a0019c0020t0002 a0020c0040t0003 a0020c0075t0003 a0029c0048t0002 a0035c0049t0017	a0003c0039t0002g0036 a0006c0010t0003g0010 a0006c0010t0003g0043 others(7): Show a0003c0039t0002g0036 a0006c0010t0003g0010 a0006c0010t0003g0043 a0006c0010t0003g0044 a0006c0021t0001g0008 a0019c0020t0002g0045 a0020c0040t0003g0124 a0020c0075t0003g0033 a0029c0048t0002g0082 a0035c0049t0017g0130	12	362	0.0332	-17	c.105 others(34): Show c.1058-925_1058-909delCGTCCAGGTGGGCGTGG		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP1B_chr5_72102475_72214565	72174996	TCCTTCCT others(10): Show TCCTTCCTTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	342	0.0029	-17	c.287 others(34): Show c.287-8726_287-8710delTCCTTCCCTCCCTCCCT		MAP1B	ENSG00000131711.15	transcript	ENST00000296755.12	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
MAP1B_chr5_72102475_72214565	72175017	TCCTTCCC others(10): Show TCCTTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0314 a0001c0001t0012g0314	1	342	0.0029	-17	c.287 others(34): Show c.287-8707_287-8691delCTTCCCTCCCTCCCTCC		MAP1B	ENSG00000131711.15	transcript	ENST00000296755.12	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
MAP1LC3B2_chr12_116554381_116581606	116566930	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02970.hp2 HG03139.hp1 others(3): Show HG02717.hp2 HG02970.hp2 HG03139.hp1 HG03471.hp2 HG03516.hp2 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0011 a0001c0001t0002 a0003c0003t0011	a0001c0001t0002g0258 a0003c0003t0011g0008 a0003c0003t0011g0401 others(1): Show a0001c0001t0002g0258 a0003c0003t0011g0008 a0003c0003t0011g0401 a0003c0003t0011g0403	6	446	0.0135	-17	c.-10 others(36): Show c.-102+7522_-102+7538delAAAAAAAAAAAAAAAAA		MAP1LC3B2	ENSG00000258102.5	transcript	ENST00000556529.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr12	TogoVar
MAP1LC3B2_chr12_116554381_116581606	116571458	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0334 a0001c0001t0004g0334	1	446	0.0022	-17	c.-10 others(36): Show c.-101-4360_-101-4344delTTTTTTTTTTTTTTTTT		MAP1LC3B2	ENSG00000258102.5	transcript	ENST00000556529.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr12	TogoVar
MAP2K5_chr15_67537703_67812114	67634367	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01496.hp1 HG02273.hp2 HG01256.hp1 HG01496.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0116 a0001c0001t0002g0128 a0001c0001t0003g0070 a0001c0001t0002g0116 a0001c0001t0002g0128 a0001c0001t0003g0070	3	278	0.0108	-17	c.585 others(34): Show c.585+3466_585+3482delAAAAAAAAAAAAAAAAA		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67739446	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03834.hp1 HG03490.hp2 HG03492.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0260 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0260 a0001c0001t0004g0273 a0001c0001t0004g0274	3	278	0.0108	-17	c.107 others(36): Show c.1075-8783_1075-8767delATATATATATATATATT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67739448	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG02080.hp2 others(9): Show HG00280.hp1 HG00597.hp2 HG02080.hp2 HG02572.hp1 HG02818.hp1 NA18941.hp1 NA18961.hp1 NA18969.hp1 NA18971.hp1 NA19001.hp1 NA19074.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0174 a0001c0001t0002g0101 a0001c0001t0002g0114 others(9): Show a0001c0001t0001g0174 a0001c0001t0002g0101 a0001c0001t0002g0114 a0001c0001t0003g0015 a0001c0001t0004g0235 a0001c0001t0004g0243 a0001c0001t0004g0248 a0001c0001t0004g0252 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0276	12	278	0.0432	-17	c.107 others(36): Show c.1075-8781_1075-8765delATATATATATATATTTT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67739450	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01256.hp2 HG01257.hp2 others(2): Show HG00639.hp2 HG01256.hp2 HG01257.hp2 NA18747.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0249 a0001c0001t0004g0254 a0001c0001t0004g0257 others(2): Show a0001c0001t0004g0249 a0001c0001t0004g0254 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0266	5	278	0.0180	-17	c.107 others(36): Show c.1075-8779_1075-8763delATATATATATATTTTTT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67739452	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0247 a0001c0001t0004g0247	1	278	0.0036	-17	c.107 others(36): Show c.1075-8777_1075-8761delATATATATATTTTTTTT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67739456	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	278	0.0036	-17	c.107 others(36): Show c.1075-8773_1075-8757delATATATTTTTTTTTTTT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67739462	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	278	0.0036	-17	c.107 others(36): Show c.1075-8749_1075-8733delTTTTTTTTTTTTTTTTT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K6_chr17_69409697_69558865	69411771	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0078 a0001c0002t0064g0078	1	260	0.0039	-17	c.-32 others(28): Show c.-3213_-3197delAAAAAAAAAAAAAAAAA		MAP2K6	ENSG00000108984.16	transcript	ENST00000590474.7	protein_coding					2925		chr17	TogoVar
MAP2_chr2_209419047_209739112	209434833	CTATATAT others(10): Show CTATATATATATATATGT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03098.hp2 HG02615.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0081 a0001c0001t0002g0082	2	148	0.0135	-17	c.-22 others(38): Show c.-222+10569_-222+10585delATATGTTATATATATAT		MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K10_chr19_40186426_40220575	40195471	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03942.hp2 NA19083.hp2 HG02738.hp1 HG03942.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0002g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0002g0104	3	398	0.0075	-17	c.682 others(34): Show c.682+2779_682+2795delTTTTTTTTTTTTTTTTT		MAP3K10	ENSG00000130758.8	transcript	ENST00000253055.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
MAP3K13_chr3_185358136_185494094	185454224	TATGATAC others(10): Show TATGATACATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	278	0.0036	-17	c.127 others(36): Show c.1278+2830_1278+2846delATGATACATATATATGA		MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13						chr3	TogoVar

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