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
MCOLN2_chr1_84920583_85002113	84987541	C C	CATATATA others(43): Show CATATATACATATGTATATACCTATATACATATATAGGTATATACATATG T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	333	0.0030	50	c.77+ others(65): Show c.77+9254_77+9255insACATATGTATATACCTATATATGTATATAG GTATATACATATGTATATAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MDGA1_chr6_37625679_37702883	37664842	G G	GACACACA others(43): Show GACACACACACACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19086.hp1 NA19057.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0007 a0001c0011t0007 a0001c0001t0007 a0001c0011t0007	a0001c0001t0007g0016 a0001c0011t0007g0024 a0001c0001t0007g0016 a0001c0011t0007g0024	2	42	0.0476	50	c.68- others(63): Show c.68-786_68-737dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar
MDM2_chr12_68803177_68850544	68847196	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0169 a0001c0002t0006g0169	1	198	0.0051	50	c.73 others(61): Show c.7347_*7348insTATATATATATATATATATATATATATATATATA TATATATATATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1653		chr12	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	109	0.0092	50	c.139 others(69): Show c.13956+748_13956+749insAAAAAAAAAAAAAATATATATATATA TATATATATATATATATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATGT others(43): Show GTGTATGTGTATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0027 a0002c0005t0001g0027	1	148	0.0068	50	c.184 others(65): Show c.184-926_184-925insTATATATATATATATATATATATATATATA TATATATATATACACATACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MED13L_chr12_115953576_116282693	116124148	G G	GAGAGAGA others(43): Show GAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGA C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0054 a0001c0006t0002g0054	1	187	0.0053	50	c.311 others(69): Show c.311-12637_311-12636insGTCTCTCTCTGTCTCTCTCTGTCTCT GTCTCTCTCTCTCTCTCTCTCTCT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116124148	G G	GAGAGAGA others(43): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0051	1	187	0.0053	50	c.311 others(69): Show c.311-12637_311-12636insGTCTCTCTCTGTCTCTGTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CAAAAAAA others(43): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	19	0.0526	50	c.480 others(69): Show c.480-26910_480-26909insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MEGF6_chr1_3482951_3616508	3588016	A A	AAAGGAGG others(43): Show AAAGGAGGGGACAGGAGTGGCCAGGAGTGGCCAGGAGGGGGCAGGAGTGG C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0098 a0098	a0098c0122 a0098c0122	a0098c0122t0009 a0098c0122t0009	a0098c0122t0009g0244 a0098c0122t0009g0244	1	229	0.0044	50	c.376 others(67): Show c.376+7321_376+7322insGCCACTCCTGCCCCCTCCTGGCCACTCC TGGCCACTCCTGTCCCCTCCTT	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3588326	C C	CCAGGAGG others(43): Show CCAGGAGGGGGCAGAAGGGGACAGGAGGGGGCAGGAGGGGACAGGAGGGG G	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18962.hp1 NA21309.hp2 HG02572.hp1 NA18962.hp1 NA21309.hp2	a0006 a0063 a0098 a0006 a0063 a0098	a0006c0029 a0063c0062 a0098c0122 a0006c0029 a0063c0062 a0098c0122	a0006c0029t0020 a0063c0062t0011 a0098c0122t0009 a0006c0029t0020 a0063c0062t0011 a0098c0122t0009	a0006c0029t0020g0285 a0063c0062t0011g0152 a0098c0122t0009g0244 a0006c0029t0020g0285 a0063c0062t0011g0152 a0098c0122t0009g0244	3	270	0.0111	50	c.376 others(67): Show c.376+7011_376+7012insCCCCCTCCTGTCCCCTCCTGCCCCCTCC TGTCCCCTTCTGCCCCCTCCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEP1A_chr6_46788389_46844778	46824769	T T	TTATATAT others(43): Show TTATATATATAAATTATATATTTAAATAGATCTATTTAAATATATAATTT A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	350	0.0029	50	c.557 others(65): Show c.557-500_557-499insATATATAAATTATATATTTAAATAGATCTA TTTAAATATATAATTTATAT	MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
METAP1D_chr2_171994953_172087430	172042734	T T	TGTGTGTA others(43): Show TGTGTGTATATGTACACATATACGTGTGTGTGTGTATATGTACACATATA C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	334	0.0030	50	c.41- others(67): Show c.41-18758_41-18757insATATGTACACATATACGTGTGTGTGTGT ATATGTACACATATACGTGTGT	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
METAP1D_chr2_171994953_172087430	172042734	T T	TGTGTGTG others(43): Show TGTGTGTGTATATGTACACATATACGTGTGTGTGTATATGTACACATATA C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	334	0.0030	50	c.41- others(67): Show c.41-18756_41-18755insATATGTACACATATACGTGTGTGTGTAT ATGTACACATATACGTGTGTGT	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
METAP1D_chr2_171994953_172087430	172042851	A A	ATATGTAC others(43): Show ATATGTACACATATACGTGTGTGTGTATATGTACACATATACGTGTGTGT G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	350	0.0029	50	c.41- others(67): Show c.41-18644_41-18643insGTACACATATACGTGTGTGTGTATATGT ACACATATACGTGTGTGTGTAT	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
METAP1D_chr2_171994953_172087430	172042851	A A	ATATGTAC others(43): Show ATATGTACACATATACGTGTGTGTGTGTATATGTACACATATACGTGTGT G	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	350	0.0029	50	c.41- others(67): Show c.41-18644_41-18643insGTACACATATACGTGTGTGTGTGTATAT GTACACATATACGTGTGTGTAT	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
METAP1D_chr2_171994953_172087430	172042851	A A	ATATGTAC others(43): Show ATATGTACACATATACGTGTGTGTGTGTATGTACACATATACGTGTGTGT G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	350	0.0029	50	c.41- others(67): Show c.41-18644_41-18643insGTACACATATACGTGTGTGTGTGTATGT ACACATATACGTGTGTGTGTAT	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT4B_chr5_179792610_179811866	179804257	A A	ATCAGGCC others(43): Show ATCAGGCCCGTTAACGGTCTGCTGTCACCATGCATGTGTGTGGCAGGTGT C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	410	0.0024	50	c.97+ others(65): Show c.97+2180_97+2229dupGACACCTGCCACACACATGCATGGTGACAG CAGACCGTTAACGGGCCTGA	MGAT4B	ENSG00000161013.17	transcript	ENST00000292591.12	protein_coding	1/14			chr5	TogoVar
MGAT5_chr2_134249072_134459621	134459463	T T	TCCTCCCT others(43): Show TCCTCCCTCCCTCCTTCCCAGGAACAAGGGCTGGTTCTTACGATGTTCCA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01261.hp2 HG02698.hp2 others(10): Show HG00621.hp2 HG01261.hp2 HG02698.hp2 HG03942.hp1 HG04115.hp2 NA18944.hp1 NA18952.hp1 NA18984.hp1 NA19009.hp1 NA19011.hp1 NA19077.hp2 NA19086.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0001t0025 a0001c0001t0026 a0001c0001t0058 a0001c0001t0098	a0001c0001t0001g0005 a0001c0001t0002g0014 a0001c0001t0002g0128 others(10): Show a0001c0001t0001g0005 a0001c0001t0002g0014 a0001c0001t0002g0128 a0001c0001t0003g0171 a0001c0001t0013g0061 a0001c0001t0013g0078 a0001c0001t0013g0175 a0001c0001t0013g0250 a0001c0001t0015g0019 a0001c0001t0025g0071 a0001c0001t0026g0185 a0001c0001t0058g0009 a0001c0001t0098g0069	13	280	0.0464	50	c.10 others(63): Show c.10616_*10617insCCTCCCTCCCTCCTTCCCAGGAACAAGGGCTG GTTCTTACGATGTTCCAC	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding		4843		chr2	TogoVar
MGA_chr15_41655405_41774940	41656377	T T	TCTCTCTC others(43): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	189	0.0053	50	c.-42 others(61): Show c.-4216_-4215insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCA	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding		4027		chr15	TogoVar
MICAL3_chr22_17782649_18029561	17866608	C C	CAGAATAG others(43): Show CAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0218 a0002c0010t0001g0218	1	172	0.0058	50	c.242 others(67): Show c.2429-597_2429-596insATTCTATTCTATTCTATTCTATTCTATT CTATTCTATTCTATTCTATTCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	17/31			chr22	TogoVar
MICALL2_chr7_1429359_1464470	1435401	G G	GGGACAGG others(43): Show GGGACAGGAGGGCCTGGGCCGACCACACCAGTGACCTGGACAGGAGGACC T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02451.hp2 HG02615.hp2 others(17): Show HG00673.hp2 HG02451.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG03041.hp1 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18964.hp1 NA18967.hp1 NA18994.hp2 NA19066.hp2	a0002 a0003 a0013 others(4): Show a0002 a0003 a0013 a0028 a0033 a0038 a0039	a0002c0003 a0002c0071 a0003c0004 others(7): Show a0002c0003 a0002c0071 a0003c0004 a0003c0025 a0013c0047 a0013c0053 a0028c0037 a0033c0039 a0038c0058 a0039c0042	a0002c0003t0002 a0002c0003t0004 a0002c0071t0002 others(8): Show a0002c0003t0002 a0002c0003t0004 a0002c0071t0002 a0003c0004t0002 a0003c0025t0002 a0013c0047t0002 a0013c0053t0002 a0028c0037t0002 a0033c0039t0002 a0038c0058t0002 a0039c0042t0002	a0002c0003t0002g0167 a0002c0003t0002g0172 a0002c0003t0004g0021 others(17): Show a0002c0003t0002g0167 a0002c0003t0002g0172 a0002c0003t0004g0021 a0002c0003t0004g0022 a0002c0071t0002g0169 a0003c0004t0002g0046 a0003c0004t0002g0068 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0092 a0003c0004t0002g0104 a0003c0004t0002g0116 a0003c0004t0002g0132 a0003c0025t0002g0033 a0013c0047t0002g0181 a0013c0053t0002g0056 a0028c0037t0002g0217 a0033c0039t0002g0149 a0038c0058t0002g0174 a0039c0042t0002g0173	20	278	0.0719	50	c.259 others(67): Show c.2592-255_2592-254insAGGTCCTCCTGTCCAGGTCACTGGTGTG GTCGGCCCAGGCCCTCCTGTCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	15/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1435470	C C	CGACCACA others(43): Show CGACCACACCAGTGACCTGGACAGGAGGACCTGGACAGGAGGGCCTGGGC T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0168 a0002c0003t0002g0168	1	278	0.0036	50	c.259 others(67): Show c.2592-324_2592-323insAGCCCAGGCCCTCCTGTCCAGGTCCTCC TGTCCAGGTCACTGGTGTGGTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	15/16			chr7	TogoVar
MID1_chrX_10440556_10625585	10465214	T T	TATATATA others(43): Show TATATATATATATATATATATATATACACACACACACACACACATACATA C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	82	0.0122	50	c.128 others(69): Show c.1285+4482_1285+4483insGTATGTATGTGTGTGTGTGTGTGTGT ATATATATATATATATATATATAT	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	7/9			chrX	TogoVar
MINAR1_chr15_79427336_79477304	79438864	A A	AGTGGGTA others(43): Show AGTGGGTAGTGAGTGTGCGGGGTGTGGGGTGGGTAGTGAGTGTGCGGGGT G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0002 a0011c0019t0002	a0011c0019t0002g0149 a0011c0019t0002g0149	1	209	0.0048	50	c.-51 others(67): Show c.-51+6324_-51+6325insGTGGGTAGTGAGTGTGCGGGGTGTGGGG TGGGTAGTGAGTGTGCGGGGTG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3			chr15	TogoVar
MLC1_chr22_50054391_50090426	50081033	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0064 a0001c0005t0013g0064	1	210	0.0048	50	c.268 others(65): Show c.268-637_268-636insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	3/11			chr22	TogoVar
MLPH_chr2_237482251_237560322	237542871	G G	GGGGGACA others(43): Show GGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAG T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	283	0.0035	50	c.153 others(67): Show c.1539+232_1539+281dupCACAGTAGTGAGTGGGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543287	G G	GGACAGTG others(43): Show GGACAGTGGTGAGGGGACAGTAGTGAGTAGGGGACAGTGGTGAGTTGGGG C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0001 a0018c0018t0001	a0018c0018t0001g0029 a0018c0018t0001g0030 a0018c0018t0001g0029 a0018c0018t0001g0030	2	275	0.0073	50	c.153 others(67): Show c.1539+628_1539+629insGACAGTGGTGAGGGGACAGTAGTGAGTA GGGGACAGTGGTGAGTTGGGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237543502	G G	GGTGAATG others(43): Show GGTGAATGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCATGGT A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0120 a0006c0006t0003g0120	1	266	0.0038	50	c.153 others(67): Show c.1539+847_1539+848insATGGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGGCATGGTAGTGA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543664	G G	GGGGGACA others(43): Show GGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGGGACAGTGGTGAG T	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0059	1	267	0.0037	50	c.153 others(69): Show c.1539+1008_1539+1009insGACAGTGGCAAGTGGGCACAGTGGTG AGTGGGGGGACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543699	G G	GGGCACAG others(43): Show GGGCACAGTAGTGAGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAG T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0230 a0002c0008t0003g0230	1	276	0.0036	50	c.153 others(69): Show c.1539+1042_1539+1043insCACAGTAGTGAGTAGGGGGACAGTGG TGAATGGGGGACAGTGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543778	G G	GGTGAATG others(43): Show GGTGAATGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCATGGT A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03098.hp1 HG03139.hp2 HG01099.hp1 HG03098.hp1 HG03139.hp2	a0006 a0023 a0006 a0023	a0006c0006 a0023c0047 a0006c0006 a0023c0047	a0006c0006t0005 a0023c0047t0005 a0006c0006t0005 a0023c0047t0005	a0006c0006t0005g0023 a0006c0006t0005g0142 a0023c0047t0005g0039 a0006c0006t0005g0023 a0006c0006t0005g0142 a0023c0047t0005g0039	3	273	0.0110	50	c.153 others(69): Show c.1539+1123_1539+1124insATGGGGACAGTGGTGAGTGGGGGGAC AGTGGTGAGTGGGCATGGTAGTGA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543820	G G	GGGACAGT others(43): Show GGGACAGTAGTGAGTAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAG T	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	269	0.0037	50	c.153 others(69): Show c.1539+1163_1539+1164insACAGTAGTGAGTAGGGGACAGTGGTG AGTGGAGGGGACAGTGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543855	G G	GGACATTG others(43): Show GGACATTGGTGAGTGGGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGT T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0036 a0036	a0036c0031 a0036c0031	a0036c0031t0001 a0036c0031t0001	a0036c0031t0001g0051 a0036c0031t0001g0051	1	282	0.0035	50	c.153 others(69): Show c.1539+1197_1539+1198insACATTGGTGAGTGGGGGGACAGTGGT GAGTTGGGGGACAGTGGTGAGTTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543864	G G	GGTGAATG others(43): Show GGTGAATGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCATGGT A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0121 a0006c0006t0003g0121	1	277	0.0036	50	c.153 others(69): Show c.1539+1209_1539+1210insATGGGGACAGTGGTGAGTGGGGGGAC AGTGGTGAGTGGGCATGGTAGTGA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543939	G G	GGGGGACA others(43): Show GGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAG T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0002 a0017c0021t0002	a0017c0021t0002g0252 a0017c0021t0002g0252	1	278	0.0036	50	c.153 others(69): Show c.1539+1284_1539+1285insACAGTGGTGAGTGGGCACGGTAGTGA GTGGGGGGACAGTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544018	G G	GGTGAGTG others(43): Show GGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACGGT A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0119 a0006c0006t0003g0119	1	279	0.0036	50	c.153 others(69): Show c.1539+1368_1539+1369insGACAGTGGTGAGTTGGGGGACAGTGG TGAGTGGGCACGGTAGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544660	G G	GGTGAGTG others(43): Show GGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACGGT A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02572.hp2 HG00642.hp2 HG02572.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0122 a0006c0006t0003g0123 a0006c0006t0003g0122 a0006c0006t0003g0123	2	268	0.0075	50	c.154 others(69): Show c.1540-1937_1540-1936insGACAGTGGTGAGTTGGGGGACAGTGG TGAGTGGGCACGGTAGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544668	G G	GGGGGACA others(43): Show GGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAG T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0012 a0005c0004t0002g0012	1	246	0.0041	50	c.154 others(69): Show c.1540-1937_1540-1936insGGGACAGTGTGTGGGGGGACAGTGGT GAGTTGGGGGGACAGTGGTGAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545165	G G	GGGACAGT others(43): Show GGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGAGGACAGTGGTGAG T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0023 a0023	a0023c0047 a0023c0047	a0023c0047t0005 a0023c0047t0005	a0023c0047t0005g0039 a0023c0047t0005g0039	1	265	0.0038	50	c.154 others(69): Show c.1540-1439_1540-1438insACAGTGGTGAGTGGGAGGACAGTGGT GAGTGGGAGGACAGTGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	333	0.0030	50	c.-36 others(61): Show c.-3640_-3639insTATATATATATATATATATATATATATATATATA CACACACACACACACA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(43): Show CACACACACACACACACACACACACACACATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0189 a0001c0010t0001g0189	1	160	0.0063	50	c.54 others(61): Show c.5444_*5445insATATATATATATATATATATATGTGTGTGTGTGT GTGTGTGTGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(43): Show CACACACACACACACACACATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0195 a0006c0006t0001g0195	1	160	0.0063	50	c.54 others(61): Show c.5444_*5445insATATATATATATATATATATATATATATATATGT GTGTGTGTGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(43): Show CACACACACACACACATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	160	0.0063	50	c.54 others(61): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT ATGTGTGTGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(43): Show CACACACACACACATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG02040.hp1 HG02040.hp2 others(2): Show HG01934.hp1 HG02040.hp1 HG02040.hp2 HG02622.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0001t0001	a0001c0002t0001g0118 a0001c0003t0001g0019 a0001c0003t0001g0132 others(2): Show a0001c0002t0001g0118 a0001c0003t0001g0019 a0001c0003t0001g0132 a0002c0001t0001g0001 a0002c0001t0001g0098	5	164	0.0305	50	c.54 others(61): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT ATATGTGTGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(43): Show CACACACACACATATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 NA18946.hp2 HG01928.hp2 NA18946.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0004c0005t0001 a0001c0002t0001 a0004c0005t0001	a0001c0002t0001g0036 a0004c0005t0001g0003 a0001c0002t0001g0036 a0004c0005t0001g0003	2	161	0.0124	50	c.54 others(61): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT ATATATGTGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(43): Show CACACACACATATATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG03669.hp2 NA18989.hp1 others(3): Show HG02071.hp2 HG03669.hp2 NA18989.hp1 NA19001.hp1 NA19081.hp2 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0004c0005 a0001c0002 a0002c0001 a0004c0005	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 others(1): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0004c0005t0001	a0001c0002t0001g0035 a0001c0002t0001g0119 a0002c0001t0001g0032 others(3): Show a0001c0002t0001g0035 a0001c0002t0001g0119 a0002c0001t0001g0032 a0002c0001t0001g0077 a0002c0001t0002g0007 a0004c0005t0001g0124	6	165	0.0364	50	c.54 others(61): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT ATATATATGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(43): Show CACACACATATATATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	160	0.0063	50	c.54 others(61): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT ATATATATATGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MOB3B_chr9_27320209_27534814	27389414	T T	TTACTTGA others(43): Show TTACTTGAACATGCCGAGAGCTTCTCTACTTGAACATGCCGAGAGCTTCT C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00621.hp2 others(21): Show HG00423.hp2 HG00438.hp1 HG00621.hp2 HG01361.hp2 HG01928.hp1 HG02027.hp2 HG02523.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG04184.hp1 NA18953.hp1 NA18965.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18989.hp2 NA19002.hp1 NA19067.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0040 a0001c0001t0079 a0001c0001t0082 a0001c0001t0096 a0001c0001t0099 a0001c0001t0107 a0001c0001t0127 a0001c0001t0163 a0001c0001t0173 a0001c0001t0197 a0001c0001t0206 a0001c0001t0214 a0001c0001t0215 a0001c0001t0233 a0001c0001t0234 a0001c0001t0235 a0001c0003t0036	a0001c0001t0001g0141 a0001c0001t0001g0196 a0001c0001t0002g0144 others(21): Show a0001c0001t0001g0141 a0001c0001t0001g0196 a0001c0001t0002g0144 a0001c0001t0004g0288 a0001c0001t0005g0284 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0040g0277 a0001c0001t0079g0067 a0001c0001t0082g0075 a0001c0001t0096g0076 a0001c0001t0099g0052 a0001c0001t0107g0069 a0001c0001t0127g0135 a0001c0001t0163g0136 a0001c0001t0173g0163 a0001c0001t0197g0258 a0001c0001t0206g0243 a0001c0001t0214g0263 a0001c0001t0215g0305 a0001c0001t0233g0227 a0001c0001t0234g0300 a0001c0001t0235g0311 a0001c0003t0036g0257	24	168	0.1429	50	c.419 others(69): Show c.419-30179_419-30178insGAGAAGCTCTCGGCATGTTCAAGTAG AGAAGCTCTCGGCATGTTCAAGTA	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	2/3			chr9	TogoVar
MOBP_chr3_39462680_39508027	39469054	G G	GTATATAT others(43): Show GTATATATACATATGTGTGTGTGTATATACATATATACATGTGTGTGTGT A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	305	0.0033	50	c.-89 others(67): Show c.-89+1320_-89+1321insTACATATGTGTGTGTGTATATACATATA TACATGTGTGTGTGTATATATA	MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
MON2_chr12_62461826_62605476	62534547	A A	ATATATAT others(43): Show ATATATATATATATATATATATTTTATATATATATATATATATATATATT T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0336 a0006c0010t0002g0350 a0006c0010t0002g0336 a0006c0010t0002g0350	2	332	0.0060	50	c.163 others(67): Show c.1634-261_1634-260insTATATATATATTTTATATATATATATAT ATATATTTTATATATATATATA	MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	12/34		INFO_REALIGN_3_PRIME	chr12	TogoVar

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