Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MGAT5_chr2_134249072_134459621	134440394	GGGTTTTC others(12): Show GGGTTTTCTCCAGGGTCTCT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG00738.hp2 others(18): Show HG00438.hp2 HG00733.hp2 HG00738.hp2 HG01261.hp1 HG02155.hp2 HG02451.hp1 HG02615.hp1 HG02717.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03098.hp1 HG03209.hp2 HG03471.hp2 HG04184.hp1 NA18947.hp1 NA18963.hp2 NA18975.hp2 NA19054.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 others(6): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0066 a0001c0001t0083	a0001c0001t0005g0110 a0001c0001t0005g0275 a0001c0001t0010g0120 others(18): Show a0001c0001t0005g0110 a0001c0001t0005g0275 a0001c0001t0010g0120 a0001c0001t0010g0233 a0001c0001t0011g0006 a0001c0001t0011g0059 a0001c0001t0011g0064 a0001c0001t0011g0075 a0001c0001t0011g0092 a0001c0001t0011g0114 a0001c0001t0011g0163 a0001c0001t0011g0211 a0001c0001t0014g0033 a0001c0001t0014g0042 a0001c0001t0014g0086 a0001c0001t0014g0087 a0001c0001t0041g0034 a0001c0001t0042g0187 a0001c0001t0043g0255 a0001c0001t0066g0119 a0001c0001t0083g0045	21	282	0.0745	-19	c.187 others(38): Show c.1870-1353_1870-1335delAGGGTCTCTGGTTTTCTCC	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGA_chr15_41655405_41774940	41657339	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	292	0.0034	-19	c.-32 others(30): Show c.-3253_-3235delTTTTTTTTTTTTTTTTTTT	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding		3065		chr15	TogoVar
MGA_chr15_41655405_41774940	41725846	AAAAAAAA others(12): Show AAAAAAAAAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0010 a0004c0004t0001g0010	1	292	0.0034	-19	c.343 others(38): Show c.3431-1330_3431-1312delAAAAAAATAAATAAATAAA	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
MGA_chr15_41655405_41774940	41762461	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0187 a0011c0014t0001g0187	1	292	0.0034	-19	c.789 others(36): Show c.7891+111_7891+129delTTTTTTTTTTTTTTTTTTT	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
MGMT_chr10_129462241_129775983	129564217	CCTTCCCC others(12): Show CCTTCCCCCTTCCCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0191 a0001c0001t0030g0191	1	194	0.0052	-19	c.125 others(38): Show c.125+27867_125+27885delCTTCCCCCTCCTCTTCCCC	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGRN1_chr16_4619826_4695972	4685299	TCTCAGAG others(12): Show TCTCAGAGGCTGCGCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0186 a0001c0001t0013g0186	1	334	0.0030	-19	c.161 others(38): Show c.1618+1371_1618+1389delAGAGGCTGCGCCTCCCCTC	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MIA2_chr14_39228915_39355694	39287117	AGGCTGGA others(12): Show AGGCTGGAGTGCAGTGGCAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02615.hp1 others(3): Show HG01243.hp1 HG02451.hp2 HG02615.hp1 HG02818.hp1 HG03453.hp1 NA18522.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0144 a0009c0009t0002g0148 a0009c0009t0002g0149 others(3): Show a0009c0009t0002g0144 a0009c0009t0002g0148 a0009c0009t0002g0149 a0009c0009t0002g0150 a0009c0009t0002g0151 a0009c0009t0002g0363	6	368	0.0163	-19	c.213 others(38): Show c.2131-3899_2131-3881delCTGGAGTGCAGTGGCATGG	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MIA2_chr14_39228915_39355694	39288446	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	368	0.0027	-19	c.213 others(38): Show c.2131-2572_2131-2554delATATATATATATATATATA	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	9/28			chr14	TogoVar
MIA2_chr14_39228915_39355694	39288450	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0153 a0003c0012t0001g0153	1	368	0.0027	-19	c.213 others(38): Show c.2131-2568_2131-2550delATATATATATATATATATA	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	9/28			chr14	TogoVar
MIB1_chr18_21735792_21875953	21738806	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0018 a0001c0001t0014g0018	1	308	0.0033	-19	c.-27 others(30): Show c.-2777_-2759delAAAAAAAAAAAAAAAAAAA	MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding		1985		chr18	TogoVar
MIB1_chr18_21735792_21875953	21840646	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG03098.hp1 HG02615.hp2 HG02630.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0088 a0001c0001t0003g0101 a0001c0001t0003g0080 a0001c0001t0003g0088 a0001c0001t0003g0101	3	308	0.0097	-19	c.196 others(38): Show c.1962+2150_1962+2168delATATATATATATATATATA	MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding	13/20			chr18	TogoVar
MIB1_chr18_21735792_21875953	21840647	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03516.hp1 NA18522.hp1 HG02257.hp2 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0026 a0001c0001t0003 a0001c0001t0026	a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0026g0092 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0026g0092	3	308	0.0097	-19	c.196 others(38): Show c.1962+2152_1962+2170delATATATATATATATATATT	MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr18	TogoVar
MIB1_chr18_21735792_21875953	21840649	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01070.hp1 others(10): Show HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01168.hp2 HG01169.hp1 HG01496.hp2 HG02132.hp2 HG02647.hp1 HG02886.hp2 HG03669.hp2 NA18957.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0029	a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0082 others(10): Show a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0100 a0001c0001t0004g0113 a0001c0001t0005g0228 a0001c0001t0029g0079	13	308	0.0422	-19	c.196 others(38): Show c.1962+2154_1962+2172delATATATATATATATATTTT	MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr18	TogoVar
MIB1_chr18_21735792_21875953	21840651	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG00741.hp1 others(2): Show HG00280.hp1 HG00735.hp1 HG00741.hp1 HG01361.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 a0001c0001t0002 a0001c0001t0003 a0001c0001t0031	a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0003g0081 others(2): Show a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0003g0081 a0001c0001t0003g0085 a0001c0001t0031g0057	5	308	0.0162	-19	c.196 others(38): Show c.1962+2156_1962+2174delATATATATATATATTTTTT	MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr18	TogoVar
MICAL3_chr22_17782649_18029561	17850400	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02258.hp1 others(6): Show HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02622.hp1 HG03453.hp1 HG03486.hp1 NA18522.hp2 NA18906.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0027	a0001c0061 a0002c0005 a0007c0013 others(3): Show a0001c0061 a0002c0005 a0007c0013 a0007c0020 a0007c0057 a0027c0039	a0001c0061t0002 a0002c0005t0002 a0007c0013t0003 others(5): Show a0001c0061t0002 a0002c0005t0002 a0007c0013t0003 a0007c0013t0006 a0007c0013t0013 a0007c0020t0022 a0007c0057t0002 a0027c0039t0002	a0001c0061t0002g0260 a0002c0005t0002g0250 a0007c0013t0003g0267 others(6): Show a0001c0061t0002g0260 a0002c0005t0002g0250 a0007c0013t0003g0267 a0007c0013t0006g0185 a0007c0013t0006g0249 a0007c0013t0013g0026 a0007c0020t0022g0020 a0007c0057t0002g0199 a0027c0039t0002g0023	9	274	0.0329	-19	c.260 others(38): Show c.2606-8402_2606-8384delAAAAAAAAAAAAAAAAAAA	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	19/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17953930	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03209.hp1 NA20129.hp2 HG02809.hp2 HG03209.hp1 NA20129.hp2	a0001 a0002 a0024 a0001 a0002 a0024	a0001c0001 a0002c0005 a0024c0036 a0001c0001 a0002c0005 a0024c0036	a0001c0001t0002 a0002c0005t0002 a0024c0036t0002 a0001c0001t0002 a0002c0005t0002 a0024c0036t0002	a0001c0001t0002g0187 a0002c0005t0002g0233 a0024c0036t0002g0202 a0001c0001t0002g0187 a0002c0005t0002g0233 a0024c0036t0002g0202	3	274	0.0110	-19	c.-74 others(38): Show c.-74-47063_-74-47045delTTTTTTTTTTTTTTTTTTT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	1/31			chr22	TogoVar
MICALL2_chr7_1429359_1464470	1446190	AGAGGGAG others(12): Show AGAGGGAGAGGAGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp2 NA18906.hp2 HG02451.hp2 HG02965.hp2 NA18906.hp2	a0009 a0036 a0044 a0009 a0036 a0044	a0009c0065 a0036c0038 a0044c0075 a0009c0065 a0036c0038 a0044c0075	a0009c0065t0001 a0036c0038t0002 a0044c0075t0003 a0009c0065t0001 a0036c0038t0002 a0044c0075t0003	a0009c0065t0001g0258 a0036c0038t0002g0233 a0044c0075t0003g0259 a0009c0065t0001g0258 a0036c0038t0002g0233 a0044c0075t0003g0259	3	280	0.0107	-19	c.641 others(34): Show c.641+504_641+522delCTCCCCCCTCCTCTCCCTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446358	GAGAGGAG others(12): Show GAGAGGAGGGGGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0010 a0010	a0010c0041 a0010c0041	a0010c0041t0002 a0010c0041t0002	a0010c0041t0002g0155 a0010c0041t0002g0155	1	280	0.0036	-19	c.641 others(34): Show c.641+336_641+354delTCCTCCTCCCCCCTCCTCT	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICA_chr6_31398595_31420315	31407640	TTCTTGAT others(12): Show TTCTTGATTTCTTTTTCAGA	T T	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0001 a0000c0005t0001	a0000c0005t0001g0097 a0000c0005t0001g0097	1	439	0.0023	-19	c.71- others(34): Show c.71-2901_71-2883delCTTGATTTCTTTTTCAGAT	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
MICB_chr6_31493145_31516124	31498446	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0123 a0003c0003t0002g0123	1	459	0.0022	-19	c.70+ others(32): Show c.70+202_70+220delTTTTTTTTTTTTTTTTTTT	MICB	ENSG00000204516.10	transcript	ENST00000252229.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
MICU1_chr10_72362340_72631079	72465503	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02257.hp1 HG02451.hp2 others(7): Show HG01069.hp2 HG02257.hp1 HG02451.hp2 HG02622.hp1 HG02647.hp1 HG02965.hp2 HG03139.hp1 HG03486.hp1 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036	10	208	0.0481	-19	c.933 others(36): Show c.933+9578_933+9596delAAAAAAAAAAAAAAAAAAA	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	8/11			chr10	TogoVar
MICU1_chr10_72362340_72631079	72517425	TGGAATAC others(12): Show TGGAATACTACTCAGCCATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00639.hp1 others(62): Show HG00140.hp1 HG00423.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02572.hp1 HG02735.hp1 HG02738.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18959.hp2 NA18963.hp2 NA18973.hp1 NA18977.hp2 NA18989.hp2 NA19007.hp2 NA19066.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0002c0002t0002 a0002c0002t0003 a0003c0003t0002	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(62): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0195 a0001c0001t0007g0022 a0001c0001t0008g0079 a0002c0002t0002g0057 a0002c0002t0002g0080 a0002c0002t0003g0082 a0002c0002t0003g0095 a0003c0003t0002g0084	65	208	0.3125	-19	c.538 others(36): Show c.538-9175_538-9157delTATGGCTGAGTAGTATTCC	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	5/11			chr10	TogoVar
MID1_chrX_10440556_10625585	10625462	CAACAACA others(12): Show CAACAACAAGCACAGAGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	165	0.0061	-19	c.-52 others(30): Show c.-5248_-5230delACACTCTGTGCTTGTTGTT	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding		4878		chrX	TogoVar
MIDN_chr19_1243583_1264143	1256628	AGAAGCCA others(12): Show AGAAGCCAGCTGCGTAGCTG	A A	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	418	0.0024	-19	c.125 others(36): Show c.1259-365_1259-347delAAGCCAGCTGCGTAGCTGG	MIDN	ENSG00000167470.14	transcript	ENST00000682408.1	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
MIER2_chr19_300573_349796	345863	GAAGAAGA others(12): Show GAAGAAGAGAATGAGTCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0061 a0001c0001t0004g0061	1	384	0.0026	-19	c.-11 others(30): Show c.-1100_-1082delTGAGACTCATTCTCTTCTT	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		1068		chr19	TogoVar
MIF_chr22_23889383_23900223	23899576	TAGTGAAT others(12): Show TAGTGAATTGCCAACCAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	441	0.0023	-19	c.44 others(30): Show c.4471_*4489delAGTGAATTGCCAACCAAAA	MIF	ENSG00000240972.2	transcript	ENST00000215754.8	protein_coding		4354		chr22	TogoVar
MIGA2_chr9_129031626_129077082	129044753	ATGTTGGC others(12): Show ATGTTGGCCAGGCTGGTCTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00558.hp2 others(89): Show HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02148.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG03927.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18947.hp1 NA18949.hp2 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18983.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19000.hp1 NA19003.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19062.hp2 NA19067.hp2 NA19068.hp1 NA19078.hp2 NA19085.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0001c0015 a0002c0002 a0002c0003 a0002c0005 a0002c0012	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 others(8): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0001c0015t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 a0002c0005t0001 a0002c0005t0012 a0002c0012t0001	a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0211 others(84): Show a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0258 a0001c0001t0001g0270 a0001c0004t0001g0237 a0001c0006t0001g0087 a0001c0006t0001g0088 a0001c0006t0001g0089 a0001c0006t0001g0090 a0001c0006t0001g0155 a0001c0015t0001g0225 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0017 a0002c0002t0001g0125 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0206 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0242 a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0263 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0275 a0002c0003t0001g0235 a0002c0003t0001g0236 a0002c0003t0001g0259 a0002c0003t0002g0207 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0241 a0002c0003t0002g0253 a0002c0003t0002g0254 a0002c0003t0002g0255 a0002c0003t0002g0262 a0002c0003t0002g0264 a0002c0003t0002g0265 a0002c0003t0002g0266 a0002c0003t0002g0269 a0002c0003t0007g0252 a0002c0005t0001g0233 a0002c0005t0001g0272 a0002c0005t0001g0273 a0002c0005t0001g0274 a0002c0005t0012g0234 a0002c0012t0001g0271	92	300	0.3067	-19	c.307 others(36): Show c.307+2277_307+2295delGTGTTGGCCAGGCTGGTCT	MIGA2	ENSG00000148343.19	transcript	ENST00000684074.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
MINDY2_chr15_58766302_58866900	58825575	CTGTTTGT others(12): Show CTGTTTGTTTGTTTGTGTGG	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0172 a0001c0001t0013g0172	1	384	0.0026	-19	c.122 others(38): Show c.1225+3772_1225+3790delGTGGTGTTTGTTTGTTTGT	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINDY2_chr15_58766302_58866900	58852953	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03834.hp1 HG02257.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0134 a0001c0001t0013g0172 a0001c0001t0003g0134 a0001c0001t0013g0172	2	384	0.0052	-19	c.173 others(37): Show c.1737+989_1737+1007delTTTTTTTTTTTTTTTTTAA	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	8/8			chr15	TogoVar
MINDY2_chr15_58766302_58866900	58863017	GGTTGTGT others(12): Show GGTTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	384	0.0026	-19	c.84 others(30): Show c.8408_*8426delGTTGTGTGTGTGTGTGTGT	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding		1118		chr15	TogoVar
MINDY4_chr7_30766417_30897387	30877822	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0203 a0009c0009t0001g0203	1	300	0.0033	-19	c.197 others(38): Show c.1971+2184_1971+2202delTTTTTTTTTTTTTTTTTTT	MINDY4	ENSG00000106125.14	transcript	ENST00000265299.6	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
MIXL1_chr1_226218664_226232060	226228836	TTTACATT others(12): Show TTTACATTTAAACTTGTGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	-19	c.30 others(30): Show c.3025_*3043delTTACATTTAAACTTGTGAC	MIXL1	ENSG00000185155.12	transcript	ENST00000366810.6	protein_coding		1777		chr1	TogoVar
MKLN1_chr7_131322876_131501632	131376121	TATATATA others(12): Show TATATATATATATATGTATG	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	320	0.0031	-19	c.168 others(34): Show c.168+631_168+649delATATATATATATGTATGAT	MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
MKNK1_chr1_46552407_46609268	46585249	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	346	0.0029	-19	c.-2- others(34): Show c.-2-1939_-2-1921delTTTTTTTTTTTTTTTTTTT	MKNK1	ENSG00000079277.22	transcript	ENST00000371945.10	protein_coding	2/12			chr1	TogoVar
MKRN2OS_chr3_12534776_12550499	12548464	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0097 a0001c0007t0001g0097	1	396	0.0025	-19	c.-30 others(30): Show c.-3019_-3001delGTTTTTTTTTTTTTTTTTT	MKRN2OS	ENSG00000225526.6	transcript	ENST00000564146.4	protein_coding		2966		chr3	TogoVar
MKS1_chr17_58200441_58224255	58203931	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	326	0.0031	-19	c.21 others(30): Show c.2129_*2147delTTTTTTTTTTTTTTTTTTT	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding		1509		chr17	TogoVar
MLC1_chr22_50054391_50090426	50067601	GCAGTGAC others(12): Show GCAGTGACTCCATCCCCCAT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00733.hp1 others(61): Show HG00438.hp2 HG00544.hp2 HG00733.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01515.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02630.hp2 HG02886.hp1 HG03041.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18980.hp1 NA18986.hp1 NA18991.hp2 NA18994.hp2 NA19002.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19081.hp2 NA19087.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0004 a0001c0001 a0001c0007 a0004c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0025 a0001c0007t0001 a0004c0004t0022	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(54): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0188 a0001c0001t0005g0002 a0001c0001t0005g0005 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0008g0029 a0001c0001t0008g0049 a0001c0001t0008g0055 a0001c0001t0008g0061 a0001c0001t0015g0020 a0001c0001t0017g0109 a0001c0001t0020g0021 a0001c0001t0025g0190 a0001c0007t0001g0054 a0004c0004t0022g0163	64	212	0.3019	-19	c.894 others(34): Show c.894+813_894+831delATGGGGGATGGAGTCACTG	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	10/11			chr22	TogoVar
MLH3_chr14_75008775_75056467	75040449	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0176 a0002c0002t0002g0176	1	262	0.0038	-19	c.346 others(36): Show c.3466-453_3466-435delTTTTTTTTTTTTTTTTTTT	MLH3	ENSG00000119684.16	transcript	ENST00000355774.7	protein_coding	4/12			chr14	TogoVar
MLLT10_chr10_21529232_21748630	21676720	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0191 a0001c0002t0002g0191	1	192	0.0052	-19	c.162 others(38): Show c.1621+2819_1621+2837delAAAAAAAAAAAAAAAAAAA	MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
MLLT10_chr10_21529232_21748630	21717554	TTCTTCTT others(12): Show TTCTTCTTTCTTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	192	0.0052	-19	c.187 others(38): Show c.1878+3642_1878+3660delCTCTTCTTTCTTCCTCTTC	MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
MLLT3_chr9_20336669_20627499	20498227	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	186	0.0054	-19	c.194 others(38): Show c.194-41460_194-41442delTTTTTTTTTTTTTTTTTTT	MLLT3	ENSG00000171843.17	transcript	ENST00000380338.9	protein_coding	2/10			chr9	TogoVar
MLLT3_chr9_20336669_20627499	20623899	TCTTTCTT others(12): Show TCTTTCTTTCCTCTTTGTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG03834.hp1 HG02738.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0041 a0001c0001t0006g0089 a0001c0001t0001g0041 a0001c0001t0006g0089	2	186	0.0108	-19	c.-16 others(30): Show c.-1662_-1644delGGACAAAGAGGAAAGAAAG	MLLT3	ENSG00000171843.17	transcript	ENST00000380338.9	protein_coding		1401		chr9	TogoVar
MLPH_chr2_237482251_237560322	237543182	GGACAGTG others(12): Show GGACAGTGGTGAGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	286	0.0035	-19	c.153 others(36): Show c.1539+524_1539+542delGACAGTGGTGAGTGGGGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237543386	TGGGGGAA others(12): Show TGGGGGAACAGTGGTGAGTG	T T	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0273 a0011c0012t0001g0273	1	286	0.0035	-19	c.153 others(36): Show c.1539+732_1539+750delGAACAGTGGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544752	TGGGCACG others(12): Show TGGGCACGGTGGTGAGTGGA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA20905.hp2 HG06807.hp2 NA20905.hp2	a0005 a0010 a0005 a0010	a0005c0004 a0010c0016 a0005c0004 a0010c0016	a0005c0004t0001 a0010c0016t0002 a0005c0004t0001 a0010c0016t0002	a0005c0004t0001g0019 a0010c0016t0002g0047 a0005c0004t0001g0019 a0010c0016t0002g0047	2	286	0.0070	-19	c.154 others(38): Show c.1540-1850_1540-1832delCACGGTGGTGAGTGGAGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545169	GACAGTGG others(12): Show GACAGTGGTGAGTGGAGGGC	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0190 a0004c0005t0001g0190	1	286	0.0035	-19	c.154 others(38): Show c.1540-1422_1540-1404delAGGGCACAGTGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLYCD_chr16_83894115_83932031	83918389	CACACACA others(12): Show CACACACAGTGCACAGGAGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0031 a0001c0001t0117g0031	1	432	0.0023	-19	c.29 others(30): Show c.2925_*2943delCAGTGCACAGGAGAACACA	MLYCD	ENSG00000103150.7	transcript	ENST00000262430.6	protein_coding	5/5	2925	INFO_REALIGN_3_PRIME	chr16	TogoVar
MLYCD_chr16_83894115_83932031	83918415	AGTGCACA others(12): Show AGTGCACAGGAGAACACATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18964.hp2 NA19004.hp2 NA18964.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0083 a0001c0001t0052g0095 a0001c0001t0052g0083 a0001c0001t0052g0095	2	432	0.0046	-19	c.29 others(30): Show c.2943_*2961delATGGTGCACAGGAGAACAC	MLYCD	ENSG00000103150.7	transcript	ENST00000262430.6	protein_coding	5/5	2943	INFO_REALIGN_3_PRIME	chr16	TogoVar
MMACHC_chr1_45495300_45518382	45513879	TGGCCTCG others(12): Show TGGCCTCGTGGGAAGGGAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0006 a0003c0004t0001g0006	1	386	0.0026	-19	c.46 others(30): Show c.4665_*4683delGGCCTCGTGGGAAGGGAAA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		498		chr1	TogoVar
MMP12_chr11_102857736_102879982	102879418	GCCGGGAT others(12): Show GCCGGGATTACAGGTGCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	448	0.0022	-19	c.-45 others(30): Show c.-4500_-4482delTGTGCACCTGTAATCCCGG	MMP12	ENSG00000262406.3	transcript	ENST00000571244.3	protein_coding		4437		chr11	TogoVar

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