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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAVS_chr20_3841834_3881118	3846117	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG03195.hp1 HG02717.hp2 HG03195.hp1	a0003 a0008 a0003 a0008	a0003c0004 a0008c0009 a0003c0004 a0008c0009	a0003c0004t0060 a0008c0009t0056 a0003c0004t0060 a0008c0009t0056	a0003c0004t0060g0378 a0008c0009t0056g0383 a0003c0004t0060g0378 a0008c0009t0056g0383	2	420	0.0048	-13	c.-85 others(22): Show c.-853_-841delAAAAAAAAAAAAA	MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding		716		chr20	TogoVar
MAVS_chr20_3841834_3881118	3870634	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG01261.hp2 HG01515.hp1 others(22): Show HG00738.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG02145.hp2 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG03831.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0013 a0001c0001t0015 a0001c0001t0041 others(9): Show a0001c0001t0013 a0001c0001t0015 a0001c0001t0041 a0001c0001t0059 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0111 a0001c0001t0112 a0001c0003t0055 a0002c0002t0015 a0002c0002t0147	a0001c0001t0013g0004 a0001c0001t0013g0009 a0001c0001t0013g0021 others(20): Show a0001c0001t0013g0004 a0001c0001t0013g0009 a0001c0001t0013g0021 a0001c0001t0013g0165 a0001c0001t0013g0294 a0001c0001t0013g0295 a0001c0001t0015g0140 a0001c0001t0015g0216 a0001c0001t0015g0284 a0001c0001t0015g0351 a0001c0001t0015g0360 a0001c0001t0015g0361 a0001c0001t0041g0364 a0001c0001t0041g0365 a0001c0001t0059g0388 a0001c0001t0106g0220 a0001c0001t0107g0184 a0001c0001t0108g0350 a0001c0001t0111g0162 a0001c0001t0112g0190 a0001c0003t0055g0354 a0002c0002t0015g0040 a0002c0002t0147g0041	25	420	0.0595	-13	c.45 others(24): Show c.4517_*4529delAAAAAAAAAAAAA	MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	7/7	4517	INFO_REALIGN_3_PRIME	chr20	TogoVar
MAX_chr14_65070127_65107517	65089756	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00738.hp2 others(30): Show HG00140.hp2 HG00609.hp1 HG00738.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01517.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp2 HG02486.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02976.hp2 HG03927.hp1 HG04115.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18955.hp1 NA18998.hp2 NA19012.hp2 NA19054.hp2 NA19062.hp2 NA19067.hp2 NA19074.hp2 NA19075.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0026	a0001c0001t0001g0175 a0001c0001t0002g0039 a0001c0001t0002g0105 others(16): Show a0001c0001t0001g0175 a0001c0001t0002g0039 a0001c0001t0002g0105 a0001c0001t0002g0121 a0001c0001t0003g0002 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0069 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0155 a0001c0001t0004g0103 a0001c0001t0011g0094 a0001c0001t0026g0120	33	382	0.0864	-13	c.171 others(30): Show c.171+3939_171+3951delTTTTTTTTTTTTT	MAX	ENSG00000125952.21	transcript	ENST00000358664.9	protein_coding	3/4			chr14	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(6): Show CATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02040.hp2 HG02896.hp2 others(8): Show HG01175.hp1 HG02040.hp2 HG02896.hp2 HG02897.hp1 NA18952.hp2 NA18979.hp1 NA18981.hp1 NA18995.hp1 NA19005.hp2 NA19006.hp2 NA20752.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0006 a0001c0001 a0008c0006	a0001c0001t0001 a0001c0001t0002 a0008c0006t0001 a0001c0001t0001 a0001c0001t0002 a0008c0006t0001	a0001c0001t0001g0033 a0001c0001t0001g0174 a0001c0001t0001g0175 others(8): Show a0001c0001t0001g0033 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0199 a0001c0001t0001g0235 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0267 a0001c0001t0002g0270 a0008c0006t0001g0207	11	298	0.0369	-13	c.212 others(32): Show c.212-28954_212-28942delTATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MB21D2_chr3_192791815_192922856	192828593	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	298	0.0034	-13	c.212 others(32): Show c.212-28956_212-28944delTATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBD3L1_chr19_8827377_8848319	8848013	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	428	0.0023	-13	c.47 others(24): Show c.4751_*4763delTTTTTTTTTTTTT	MBD3L1	ENSG00000170948.4	transcript	ENST00000595891.2	protein_coding		4695		chr19	TogoVar
MBD3L2B_chr19_7013969_7026431	7024493	AGGCAGGA others(6): Show AGGCAGGATCATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0011 a0003c0004t0001g0011	1	350	0.0029	-13	c.-31 others(24): Show c.-3109_-3097delAAATGATCCTGCC	MBD3L2B	ENSG00000196589.8	transcript	ENST00000636986.2	protein_coding		3063		chr19	TogoVar
MBD3L2_chr19_7044321_7056735	7048703	CTCTTTTT others(6): Show CTCTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0003 a0008c0009t0003	a0008c0009t0003g0033 a0008c0009t0003g0033	1	258	0.0039	-13	c.-67 others(22): Show c.-670_-658delTCTTTTTTTTTTT	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		617		chr19	TogoVar
MBD3L2_chr19_7044321_7056735	7048705	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00642.hp1 others(99): Show HG00099.hp2 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02897.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18960.hp1 NA18966.hp2 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18986.hp2 NA18992.hp2 NA18998.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19058.hp2 NA19065.hp1 NA19070.hp2 NA19088.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0008 others(2): Show a0001c0001 a0001c0007 a0001c0008 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0007t0001 a0001c0008t0002 a0001c0010t0002 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(18): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0006g0001 a0001c0007t0001g0016 a0001c0008t0002g0001 a0001c0010t0002g0029 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0027	102	258	0.3954	-13	c.-66 others(22): Show c.-668_-656delTTTTTTTTTTTTT	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		615		chr19	TogoVar
MBD3L2_chr19_7044321_7056735	7054283	TTATATAA others(6): Show TTATATAAATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18992.hp2 NA19002.hp1 NA18946.hp2 NA18992.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0006 a0001c0001t0001g0018	3	258	0.0116	-13	c.26 others(24): Show c.2662_*2674delTATATAAATATAA	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		2549		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7053476	ATATGTTA others(6): Show ATATGTTATATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	1	288	0.0035	-13	c.28 others(24): Show c.2833_*2845delATTATATAACATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2730		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7053903	AATAATAT others(6): Show AATAATATATAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0032 a0005c0007t0001g0032	1	288	0.0035	-13	c.24 others(24): Show c.2406_*2418delAATTATATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2303		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7054283	TTATATAA others(6): Show TTATATAAATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18953.hp1 NA18992.hp2 others(1): Show NA18946.hp2 NA18953.hp1 NA18992.hp2 NA19002.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	4	288	0.0139	-13	c.20 others(24): Show c.2026_*2038delTTATATTTATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		1923		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035019	TTACATAA others(6): Show TTACATAATTATGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG01516.hp1 others(5): Show HG00280.hp2 HG01081.hp2 HG01516.hp1 HG02976.hp2 HG03490.hp2 HG06807.hp2 NA18973.hp2 NA18994.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0005c0009t0001 a0001c0001t0001 a0001c0001t0002 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0002g0006 a0001c0001t0002g0014 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0006 a0001c0001t0002g0014 a0005c0009t0001g0021	8	262	0.0305	-13	c.28 others(24): Show c.2829_*2841delTCATAATTATGTA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2729		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035285	TAATATAA others(6): Show TAATATAATATGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	262	0.0038	-13	c.25 others(24): Show c.2563_*2575delTTCATATTATATT	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2463		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035019	TTACATAA others(6): Show TTACATAATTATGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0001 a0006c0006t0002g0001	1	249	0.0040	-13	c.21 others(24): Show c.2126_*2138delTACATAATTATGA	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2009		chr19	TogoVar
MBD3_chr19_1568596_1597865	1579181	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01261.hp1 HG01255.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0189 a0001c0001t0002g0192	2	400	0.0050	-13	c.678 others(28): Show c.678-656_678-644delTTTTTTTTTTTTT	MBD3	ENSG00000071655.18	transcript	ENST00000434436.8	protein_coding	5/6			chr19	TogoVar
MBD5_chr2_148016091_148521971	148060132	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	188	0.0053	-13	c.-92 others(34): Show c.-925+38466_-925+38478delAAAAAAAAAAAAA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148389248	AAACATAT others(6): Show AAACATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp1 NA18948.hp2 others(2): Show HG02895.hp2 HG03139.hp1 NA18948.hp2 NA18988.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0011 others(2): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0011 a0001c0001t0004g0183 a0001c0001t0007g0010	5	188	0.0266	-13	c.-55 others(34): Show c.-557+46914_-557+46926delACATATATATATA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148424177	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18946.hp2 NA18948.hp1 HG03540.hp2 NA18946.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0040 a0001c0001t0004g0065 a0001c0001t0006g0177 a0001c0001t0001g0040 a0001c0001t0004g0065 a0001c0001t0006g0177	3	188	0.0160	-13	c.-55 others(34): Show c.-556-33999_-556-33987delAAAAAAAAAAAAA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBIP_chr14_36293564_36325637	36302491	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02258.hp2 others(14): Show HG01243.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG03540.hp2 NA19030.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0002t0006 a0002c0004t0002 a0002c0002t0002 a0002c0002t0006 a0002c0004t0002	a0002c0002t0002g0023 a0002c0002t0002g0031 a0002c0002t0002g0058 others(4): Show a0002c0002t0002g0023 a0002c0002t0002g0031 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0006g0015 a0002c0004t0002g0018 a0002c0004t0002g0046	17	312	0.0545	-13	c.889 others(30): Show c.889-1681_889-1669delTTTTTTTTTTTTT	MBIP	ENSG00000151332.20	transcript	ENST00000416007.9	protein_coding	7/8			chr14	TogoVar
MBNL1_chr3_152263929_152470780	152315878	TCTCTCTC others(6): Show TCTCTCTCTCACTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02129.hp1 HG00423.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0177 a0001c0001t0001g0178	2	338	0.0059	-13	c.174 others(32): Show c.174+15521_174+15533delACTCCTCTCTCTC	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL2_chr13_97217333_97399120	97287926	TTTGTTTT others(6): Show TTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	254	0.0039	-13	c.174 others(32): Show c.174+11520_174+11532delGTTTTGTTTTGTT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132408092	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02486.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0102 a0001c0001t0010g0109 a0001c0001t0005g0102 a0001c0001t0010g0109	2	191	0.0105	-13	c.178 others(30): Show c.178-1713_178-1701delAAAAAAAAAAAAA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	2/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132488796	CGGCGTCC others(6): Show CGGCGTCCGAGGAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0001 a0001c0001t0039g0001	1	191	0.0052	-13	c.-70 others(28): Show c.-704+42_-704+54delTTCCTCGGACGCC	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	1/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20168591	GAGAGAAA others(6): Show GAGAGAAAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0026 a0001c0001t0044g0026	1	336	0.0030	-13	c.100 others(32): Show c.100-15835_100-15823delTCTCTCTTTCTCT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT7_chr19_54168415_54194580	54177900	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0264 a0001c0001t0003g0264	1	373	0.0027	-13	c.103 others(30): Show c.1031+852_1031+864delAAAAAAAAAAAAA	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	7/7			chr19	TogoVar
MBP_chr18_76973833_77137783	76975167	TTTCTTTT others(6): Show TTTCTTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02738.hp1 HG03654.hp2 others(1): Show HG02647.hp1 HG02738.hp1 HG03654.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0014 a0001c0001t0009 a0001c0001t0014	a0001c0001t0009g0128 a0001c0001t0009g0152 a0001c0001t0009g0180 others(1): Show a0001c0001t0009g0128 a0001c0001t0009g0152 a0001c0001t0009g0180 a0001c0001t0014g0284	4	396	0.0101	-13	c.52 others(24): Show c.5247_*5259delGAAAAGAAAAGAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3665		chr18	TogoVar
MBP_chr18_76973833_77137783	77072461	ATTGCCTG others(6): Show ATTGCCTGGGTAAC	A A	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0331 a0001c0001t0046g0331	1	396	0.0025	-13	c.52- others(28): Show c.52-6089_52-6077delGTTACCCAGGCAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77098949	ACTCCTCC others(6): Show ACTCCTCCTTCCCC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0073 a0003c0004t0013g0073	1	396	0.0025	-13	c.51+ others(28): Show c.51+6249_51+6261delGGGGAAGGAGGAG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51179483	TTTATATA others(6): Show TTTATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0067 a0001c0001t0066g0067	1	340	0.0029	-13	c.10 others(24): Show c.1080_*1092delTATATATATATAA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1080		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190721	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03471.hp1 HG03130.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0130 a0001c0001t0114 a0001c0001t0130	a0001c0001t0114g0224 a0001c0001t0130g0223 a0001c0001t0114g0224 a0001c0001t0130g0223	2	340	0.0059	-13	c.176 others(32): Show c.1768+1469_1768+1481delTTTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTD1_chr17_51172425_51265049	51216957	TTGGGAGG others(6): Show TTGGGAGGCAAAGG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0018 a0001c0001t0067g0018	1	340	0.0029	-13	c.486 others(28): Show c.486+364_486+376delCCTTTGCCTCCCA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	6/16			chr17	TogoVar
MBTPS1_chr16_84048763_84121942	84078093	ACTCACGC others(6): Show ACTCACGCACACTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(127): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01168.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp2 HG03710.hp1 HG03834.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0012 a0001c0018 a0009c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0002t0001 a0001c0002t0009 a0001c0005t0002 a0001c0009t0035 a0001c0012t0044 a0001c0018t0001 a0009c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0210 a0001c0001t0003g0367 a0001c0001t0003g0368 a0001c0001t0003g0393 a0001c0001t0007g0077 a0001c0001t0007g0188 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0007g0219 a0001c0001t0009g0013 a0001c0001t0009g0275 a0001c0001t0009g0280 a0001c0001t0009g0285 a0001c0001t0011g0255 a0001c0001t0016g0390 a0001c0001t0020g0024 a0001c0001t0020g0025 a0001c0001t0022g0256 a0001c0001t0022g0257 a0001c0001t0023g0252 a0001c0001t0023g0253 a0001c0001t0025g0369 a0001c0001t0025g0387 a0001c0001t0026g0201 a0001c0001t0028g0090 a0001c0001t0032g0233 a0001c0001t0038g0254 a0001c0001t0039g0242 a0001c0001t0040g0279 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0009g0306 a0001c0005t0002g0002 a0001c0005t0002g0113 a0001c0005t0002g0118 a0001c0009t0035g0243 a0001c0012t0044g0396 a0001c0018t0001g0100 a0009c0017t0001g0177	130	424	0.3066	-13	c.144 others(32): Show c.1449-3365_1449-3353delCAGTGTGCGTGAG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding	11/22			chr16	TogoVar
MC3R_chr20_56243732_56254815	56252815	ATTCTCTG others(6): Show ATTCTCTGAGTCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	460	0.0022	-13	c.30 others(24): Show c.3001_*3013delTTCTCTGAGTCCT	MC3R	ENSG00000124089.4	transcript	ENST00000243911.2	protein_coding		3001		chr20	TogoVar
MC5R_chr18_13819149_13832323	13823936	ACCGACCC others(6): Show ACCGACCCACCGAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00597.hp1 others(73): Show HG00323.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp2 HG02056.hp2 HG02165.hp2 HG02258.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02818.hp2 HG02895.hp1 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp2 HG03704.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18946.hp1 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18971.hp1 NA18975.hp2 NA18976.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19077.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19086.hp2 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0005 a0002c0003t0003 a0002c0003t0005	a0002c0003t0003g0004 a0002c0003t0003g0012 a0002c0003t0003g0017 others(3): Show a0002c0003t0003g0004 a0002c0003t0003g0012 a0002c0003t0003g0017 a0002c0003t0003g0021 a0002c0003t0003g0026 a0002c0003t0005g0009	76	432	0.1759	-13	c.-37 others(22): Show c.-377_-365delCCGACCCACCGAC	MC5R	ENSG00000176136.6	transcript	ENST00000589410.2	protein_coding		212		chr18	TogoVar
MCAT_chr22_43127209_43148398	43130417	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG01069.hp1 others(54): Show HG00438.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG02015.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18950.hp2 NA18977.hp2 NA19007.hp2 NA19059.hp1 NA19068.hp1 NA19068.hp2 NA19087.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0001 a0002c0002 a0005c0007 others(1): Show a0001c0001 a0002c0002 a0005c0007 a0011c0013	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0002c0002t0001 a0002c0002t0012 a0005c0007t0002 a0011c0013t0002	a0001c0001t0002g0004 a0001c0001t0002g0022 a0001c0001t0002g0027 others(29): Show a0001c0001t0002g0004 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0078 a0001c0001t0002g0105 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0005g0121 a0001c0001t0008g0045 a0001c0001t0009g0051 a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0092 a0002c0002t0001g0097 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0114 a0002c0002t0012g0107 a0005c0007t0002g0049 a0011c0013t0002g0152	57	418	0.1364	-13	c.26 others(24): Show c.2613_*2625delAAAAAAAAAAAAA	MCAT	ENSG00000100294.13	transcript	ENST00000290429.11	protein_coding		1791		chr22	TogoVar
MCCC1_chr3_183010218_183104496	183050705	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	344	0.0029	-13	c.955 others(30): Show c.955+1441_955+1453delTTTTTTTTTTTTT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	9/18			chr3	TogoVar
MCCD1_chr6_31523962_31535232	31525296	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(287): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005 a0005c0006 a0006c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0003t0001 a0002c0002t0001 a0002c0002t0003 a0004c0005t0001 a0005c0006t0003 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0004g0001 a0001c0001t0006g0002 a0001c0001t0008g0001 a0001c0003t0001g0005 a0001c0003t0001g0007 a0001c0003t0001g0016 a0002c0002t0001g0003 a0002c0002t0003g0001 a0002c0002t0003g0003 a0002c0002t0003g0006 a0002c0002t0003g0014 a0002c0002t0003g0019 a0004c0005t0001g0012 a0005c0006t0003g0003 a0006c0008t0001g0001	290	445	0.6517	-13	c.-37 others(24): Show c.-3718_-3706delTTTTTTTTTTTTT	MCCD1	ENSG00000204511.3	transcript	ENST00000376191.3	protein_coding		3665		chr6	TogoVar
MCC_chr5_113017106_113493453	113036012	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG02040.hp1 others(4): Show HG00639.hp1 HG01361.hp2 HG02040.hp1 HG02257.hp1 HG03453.hp1 NA18986.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0008 a0002c0001 others(1): Show a0001c0007 a0001c0008 a0002c0001 a0002c0013	a0001c0007t0006 a0001c0007t0038 a0001c0008t0031 others(3): Show a0001c0007t0006 a0001c0007t0038 a0001c0008t0031 a0002c0001t0002 a0002c0013t0015 a0002c0013t0016	a0001c0007t0006g0102 a0001c0007t0038g0076 a0001c0008t0031g0034 others(4): Show a0001c0007t0006g0102 a0001c0007t0038g0076 a0001c0008t0031g0034 a0002c0001t0002g0123 a0002c0013t0015g0130 a0002c0013t0015g0139 a0002c0013t0016g0151	7	160	0.0438	-13	c.275 others(32): Show c.2757-6969_2757-6957delAAAAAAAAAAAAA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	17/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113107202	GTTTTTCT others(6): Show GTTTTTCTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02040.hp1 HG02055.hp1 others(13): Show HG01496.hp1 HG02040.hp1 HG02055.hp1 HG02280.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp1 NA18522.hp1 NA18522.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0001c0008 a0001c0009 others(7): Show a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0018 a0001c0021 a0001c0025 a0003c0014 a0003c0015 a0003c0037	a0001c0007t0022 a0001c0007t0038 a0001c0008t0017 others(11): Show a0001c0007t0022 a0001c0007t0038 a0001c0008t0017 a0001c0009t0008 a0001c0009t0011 a0001c0010t0005 a0001c0010t0028 a0001c0018t0007 a0001c0021t0008 a0001c0025t0041 a0001c0025t0042 a0003c0014t0005 a0003c0015t0036 a0003c0037t0032	a0001c0007t0022g0108 a0001c0007t0038g0076 a0001c0008t0017g0050 others(13): Show a0001c0007t0022g0108 a0001c0007t0038g0076 a0001c0008t0017g0050 a0001c0009t0008g0110 a0001c0009t0008g0111 a0001c0009t0011g0070 a0001c0010t0005g0033 a0001c0010t0005g0036 a0001c0010t0028g0035 a0001c0018t0007g0085 a0001c0021t0008g0058 a0001c0025t0041g0063 a0001c0025t0042g0062 a0003c0014t0005g0026 a0003c0015t0036g0018 a0003c0037t0032g0025	16	160	0.1000	-13	c.102 others(32): Show c.1028-2860_1028-2848delAAAAAAAGAAAAA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	6/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113132318	GAAATAAT others(6): Show GAAATAATAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02559.hp1 HG00741.hp2 HG02559.hp1	a0001 a0003 a0001 a0003	a0001c0011 a0003c0039 a0001c0011 a0003c0039	a0001c0011t0004 a0003c0039t0004 a0001c0011t0004 a0003c0039t0004	a0001c0011t0004g0054 a0003c0039t0004g0029 a0001c0011t0004g0054 a0003c0039t0004g0029	2	160	0.0125	-13	c.885 others(30): Show c.885-9505_885-9493delTCTCCTATTATTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	5/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113266815	AAAAAAAA others(6): Show AAAAAAAACCTAAC	A A	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19002.hp2 NA18981.hp1 NA19002.hp2	a0004 a0004	a0004c0054 a0004c0055 a0004c0054 a0004c0055	a0004c0054t0001 a0004c0055t0005 a0004c0054t0001 a0004c0055t0005	a0004c0054t0001g0115 a0004c0055t0005g0116 a0004c0054t0001g0115 a0004c0055t0005g0116	2	160	0.0125	-13	c.627 others(32): Show c.627+73691_627+73703delGTTAGGTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113456623	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp2 HG02055.hp1 HG03453.hp2	a0003 a0003	a0003c0014 a0003c0037 a0003c0014 a0003c0037	a0003c0014t0005 a0003c0037t0032 a0003c0014t0005 a0003c0037t0032	a0003c0014t0005g0026 a0003c0037t0032g0025 a0003c0014t0005g0026 a0003c0037t0032g0025	2	160	0.0125	-13	c.170 others(32): Show c.170+31609_170+31621delAAAAAAAAAAAAA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/18			chr5	TogoVar
MCEE_chr2_71104687_71135229	71104848	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(44): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01169.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG03041.hp1 HG03654.hp2 HG03669.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18953.hp2 NA18957.hp2 NA18964.hp1 NA19011.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19068.hp1 NA19079.hp1 NA19088.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0003c0006 others(1): Show a0001c0001 a0003c0003 a0003c0006 a0006c0008	a0001c0001t0001 a0003c0003t0001 a0003c0006t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0003c0006t0001 a0006c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0070 a0001c0001t0001g0072 others(33): Show a0001c0001t0001g0007 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0152 a0001c0001t0001g0156 a0003c0003t0001g0010 a0003c0003t0001g0054 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0215 a0003c0003t0001g0217 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0006t0001g0057 a0003c0006t0001g0209 a0006c0008t0001g0213	47	418	0.1124	-13	c.51 others(24): Show c.5109_*5121delTTTTTTTTTTTTT	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding		4838		chr2	TogoVar
MCF2L2_chr3_183173041_183433619	183216574	ATATATAT others(6): Show ATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03486.hp2 NA19240.hp2 HG01257.hp2 HG03486.hp2 NA19240.hp2	a0001 a0009 a0014 a0001 a0009 a0014	a0001c0001 a0009c0032 a0014c0014 a0001c0001 a0009c0032 a0014c0014	a0001c0001t0012 a0009c0032t0011 a0014c0014t0002 a0001c0001t0012 a0009c0032t0011 a0014c0014t0002	a0001c0001t0012g0068 a0009c0032t0011g0152 a0014c0014t0002g0148 a0001c0001t0012g0068 a0009c0032t0011g0152 a0014c0014t0002g0148	3	176	0.0171	-13	c.237 others(30): Show c.2371-493_2371-481delAAAAAAATATATA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183216576	ATATATTT others(6): Show ATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0014 a0005c0006t0014	a0005c0006t0014g0156 a0005c0006t0014g0156	1	176	0.0057	-13	c.237 others(30): Show c.2371-495_2371-483delAAAAAAAAATATA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183216578	ATATTTTT others(6): Show ATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0022 a0022	a0022c0021 a0022c0021	a0022c0021t0003 a0022c0021t0003	a0022c0021t0003g0027 a0022c0021t0003g0027	1	176	0.0057	-13	c.237 others(30): Show c.2371-497_2371-485delAAAAAAAAAAATA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183417115	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp1 HG03579.hp1 others(1): Show HG02257.hp2 HG02717.hp1 HG03579.hp1 HG03579.hp2	a0004 a0006 a0012 others(1): Show a0004 a0006 a0012 a0013	a0004c0004 a0006c0008 a0012c0013 others(1): Show a0004c0004 a0006c0008 a0012c0013 a0013c0012	a0004c0004t0021 a0006c0008t0009 a0012c0013t0026 others(1): Show a0004c0004t0021 a0006c0008t0009 a0012c0013t0026 a0013c0012t0009	a0004c0004t0021g0149 a0006c0008t0009g0175 a0012c0013t0026g0174 others(1): Show a0004c0004t0021g0149 a0006c0008t0009g0175 a0012c0013t0026g0174 a0013c0012t0009g0173	4	176	0.0227	-13	c.76+ others(30): Show c.76+10774_76+10786delTTTTTTTTTTTTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	1/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113055385	CACACACA others(6): Show CACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03471.hp2 HG03195.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0002 a0001c0001t0014g0001 a0001c0001t0001g0002 a0001c0001t0014g0001	2	116	0.0172	-13	c.370 others(30): Show c.370-5207_370-5195delACACACACACACA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29			chr13	TogoVar

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