Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MFSD14B_chr9_94369569_94466042	94373681	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG04228.hp1 NA18956.hp1 HG02074.hp1 HG04228.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0224 a0001c0001t0003g0189 a0001c0001t0003g0247 a0001c0001t0002g0224 a0001c0001t0003g0189 a0001c0001t0003g0247	3	8	0.3750	33	c.-11 others(44): Show c.-1139_-1138insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		MFSD14B	ENSG00000148110.17	transcript	ENST00000375344.8	protein_coding					887		chr9	TogoVar
MFSD3_chr8_144504070_144516213	144510509	T T	TATTATTT others(26): Show TATTATTTTTATTTCTCTCTTTTATTACTATCGG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18946.hp2 NA18946.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0004 a0010c0013t0001g0004	1	398	0.0025	33	c.830 others(44): Show c.830+2_830+3insATTATTTTTATTTCTCTCTTTTATTACTATCGG		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding	2/4						chr8	TogoVar
MGAM_chr7_141990879_142111747	142041862	T T	TATATATA others(26): Show TATATATATATTATATATATACGTATAATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01261.hp1 HG01346.hp2 others(7): Show HG00423.hp1 HG01261.hp1 HG01346.hp2 HG01515.hp2 HG01517.hp2 HG02602.hp1 HG03490.hp2 HG03492.hp2 NA18974.hp2 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0008 a0001c0001 a0002c0004 a0002c0008	a0001c0001t0001 a0002c0004t0001 a0002c0008t0001 a0001c0001t0001 a0002c0004t0001 a0002c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0080 a0001c0001t0001g0132 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0080 a0001c0001t0001g0132 a0001c0001t0001g0164 a0001c0001t0001g0218 a0001c0001t0001g0305 a0001c0001t0001g0306 a0002c0004t0001g0155 a0002c0008t0001g0036	10	310	0.0323	33	c.249 others(52): Show c.2498+1071_2498+1103dupGTATAATATATAATATATATATTATA TATATAC		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142042211	T T	TAACATAT others(26): Show TAACATATATATACATATAATATATAACATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	312	0.0032	33	c.249 others(52): Show c.2498+1365_2498+1366insAACATATATATACATATAATATATAA CATATAT		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70						chr7	TogoVar
MGAM_chr7_141990879_142111747	142042702	T T	TATATATA others(26): Show TATATATATATAATATATATTATATATACATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0228 a0004c0012t0001g0228	1	154	0.0065	33	c.249 others(52): Show c.2498+1863_2498+1864insTATAATATATATTATATATACATATA ATATATA		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142043628	T T	TTATATAT others(26): Show TTATATATACATATACTATCTAATATATAATACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02451.hp1 others(9): Show HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02809.hp2 HG02965.hp2 HG02976.hp2 HG03225.hp2 HG03516.hp1 NA18522.hp2	a0005 a0006 a0011 others(2): Show a0005 a0006 a0011 a0020 a0034	a0005c0010 a0005c0067 a0006c0009 others(3): Show a0005c0010 a0005c0067 a0006c0009 a0011c0026 a0020c0066 a0034c0077	a0005c0010t0001 a0005c0067t0001 a0006c0009t0002 others(3): Show a0005c0010t0001 a0005c0067t0001 a0006c0009t0002 a0011c0026t0001 a0020c0066t0001 a0034c0077t0001	a0005c0010t0001g0060 a0005c0010t0001g0065 a0005c0010t0001g0274 others(9): Show a0005c0010t0001g0060 a0005c0010t0001g0065 a0005c0010t0001g0274 a0005c0067t0001g0063 a0006c0009t0002g0034 a0006c0009t0002g0059 a0006c0009t0002g0061 a0006c0009t0002g0170 a0006c0009t0002g0226 a0011c0026t0001g0119 a0020c0066t0001g0227 a0034c0077t0001g0048	12	245	0.0490	33	c.249 others(52): Show c.2498+2788_2498+2820dupATACATATACTATCTAATATATAATA CATATAT		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142045052	A A	AATGTATA others(26): Show AATGTATATTATATACACGTGTAATATATGATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03453.hp1 others(3): Show HG02280.hp1 HG02572.hp2 HG03453.hp1 HG03710.hp1 HG04228.hp2 HG06807.hp1	a0001 a0004 a0021 a0001 a0004 a0021	a0001c0015 a0004c0012 a0021c0069 a0001c0015 a0004c0012 a0021c0069	a0001c0015t0001 a0004c0012t0001 a0021c0069t0001 a0001c0015t0001 a0004c0012t0001 a0021c0069t0001	a0001c0015t0001g0116 a0004c0012t0001g0062 a0004c0012t0001g0068 others(3): Show a0001c0015t0001g0116 a0004c0012t0001g0062 a0004c0012t0001g0068 a0004c0012t0001g0081 a0004c0012t0001g0228 a0021c0069t0001g0175	6	313	0.0192	33	c.249 others(52): Show c.2499-2731_2499-2730insGTATATTATATACACGTGTAATATAT GATATAT		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT3_chr22_39452012_39497194	39475128	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	103	0.0097	33	c.-1- others(50): Show c.-1-12197_-1-12196insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		MGAT3	ENSG00000128268.12	transcript	ENST00000341184.7	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr22	TogoVar
MGAT4B_chr5_179792610_179811866	179811393	T T	TATGCAGG others(26): Show TATGCAGGGGGAGGAGCTATGCAGGGGGAGGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	33	c.-48 others(44): Show c.-4811_-4810insGCTCCTCCCCCTGCATAGCTCCTCCCCCTGCAT		MGAT4B	ENSG00000161013.17	transcript	ENST00000292591.12	protein_coding					4528		chr5	TogoVar
MGAT4C_chr12_85950667_86261391	86012778	A A	AACAACAA others(26): Show AACAACAACAACCACCACCACCACCACCACCACC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0126 a0001c0001t0126	a0001c0001t0126g0166 a0001c0001t0126g0166	1	109	0.0092	33	c.-6- others(50): Show c.-6-23227_-6-23226insGGTGGTGGTGGTGGTGGTGGTGGTTGTT GTTGT		MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	2/4						chr12	TogoVar
MGAT5_chr2_134249072_134459621	134381364	T T	TAGATAGA others(26): Show TAGATAGATAGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG02071.hp1 others(1): Show HG00609.hp2 HG00639.hp1 HG02071.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0031 a0001c0001t0056 others(1): Show a0001c0001t0010 a0001c0001t0031 a0001c0001t0056 a0001c0001t0104	a0001c0001t0010g0120 a0001c0001t0031g0011 a0001c0001t0056g0143 others(1): Show a0001c0001t0010g0120 a0001c0001t0031g0011 a0001c0001t0056g0143 a0001c0001t0104g0277	4	264	0.0152	33	c.138 others(54): Show c.1380+18961_1380+18962insGATAGATAGATAGATAGATAGATA GATAAGATA		MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	93	0.0108	33	c.138 others(54): Show c.1381-15655_1381-15654insATATATATATATATATATATATAT TTTTTTTTT		MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MGA_chr15_41655405_41774940	41656344	T T	TCTCTCTC others(26): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02080.hp1 HG04199.hp2 HG00741.hp2 HG02080.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0147 a0001c0001t0002g0160 a0001c0001t0009g0096 a0001c0001t0002g0147 a0001c0001t0002g0160 a0001c0001t0009g0096	3	50	0.0600	33	c.-42 others(44): Show c.-4249_-4248insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC		MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding					4060		chr15	TogoVar
MGMT_chr10_129462241_129775983	129646754	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0019 a0003c0003t0019	a0003c0003t0019g0042 a0003c0003t0019g0042	1	141	0.0071	33	c.126 others(52): Show c.126-61140_126-61139insATATATATATATATATATATTTTTTT TTTTTTT		MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr10	TogoVar
MIB1_chr18_21735792_21875953	21860098	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0102 a0001c0001t0009g0102	1	40	0.0250	33	c.288 others(52): Show c.2880+1479_2880+1480insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr18	TogoVar
MICALL2_chr7_1429359_1464470	1442630	A A	ACCTCCCC others(26): Show ACCTCCCCCACCATTGCGCCAGGCCACCCCTCCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00558.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0228 a0001c0001t0001g0229	2	277	0.0072	33	c.141 others(50): Show c.1419-179_1419-147dupCGGAGGGGTGGCCTGGCGCAATGGTGGG GGAGG		MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	6/16						chr7	TogoVar
MICOS10_chr1_19591979_19634820	19600885	G G	GCCCCCCC others(26): Show GCCCCCCCCCCCCCCCCCCCCCCCCACCCCCCCC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0192 a0001c0002t0007g0192	1	346	0.0029	33	c.64+ others(48): Show c.64+3778_64+3779insCCCCCCCCCCCCCCCCCCCCCCACCCCCCC CCC		MICOS10	ENSG00000173436.15	transcript	ENST00000322753.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
MIER2_chr19_300573_349796	303452	A A	ACTCAATA others(26): Show ACTCAATACACCAAAGCACATCCTCATCAGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	381	0.0026	33	c.32 others(44): Show c.3237_*3238insGTGTCTGATGAGGATGTGCTTTGGTGTATTGAG		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding					2120		chr19	TogoVar
MIER2_chr19_300573_349796	304172	A A	ACTCAATA others(26): Show ACTCAATACACCAAAGCACATTCTCATCAGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(183): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0022 a0001c0023 a0001c0024 a0001c0027 a0004c0019 a0005c0025 a0006c0018 a0008c0016	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(19): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0002t0002 a0001c0003t0002 a0001c0006t0001 a0001c0007t0001 a0001c0007t0006 a0001c0007t0009 a0001c0008t0001 a0001c0010t0001 a0001c0011t0002 a0001c0013t0001 a0001c0014t0002 a0001c0022t0002 a0001c0023t0001 a0001c0024t0001 a0001c0027t0001 a0004c0019t0001 a0005c0025t0001 a0006c0018t0001 a0008c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0018 others(159): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0078 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0277 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0005g0031 a0001c0001t0005g0305 a0001c0001t0005g0328 a0001c0001t0008g0192 a0001c0002t0002g0239 a0001c0003t0002g0015 a0001c0003t0002g0151 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0163 a0001c0003t0002g0185 a0001c0006t0001g0084 a0001c0007t0001g0174 a0001c0007t0001g0175 a0001c0007t0006g0171 a0001c0007t0009g0170 a0001c0008t0001g0202 a0001c0010t0001g0017 a0001c0011t0002g0267 a0001c0011t0002g0283 a0001c0013t0001g0257 a0001c0013t0001g0258 a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0022t0002g0326 a0001c0023t0001g0219 a0001c0024t0001g0194 a0001c0027t0001g0160 a0004c0019t0001g0203 a0005c0025t0001g0184 a0006c0018t0001g0198 a0008c0016t0001g0195	186	343	0.5423	33	c.25 others(44): Show c.2517_*2518insGTGTCTGATGAGAATGTGCTTTGGTGTATTGAG		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding					1400		chr19	TogoVar
MIF_chr22_23889383_23900223	23894958	C C	CGGAGGGG others(26): Show CGGAGGGGCGGGGGAGGGGCGGGGGAGGGGCGGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	440	0.0023	33	c.281 others(46): Show c.281+35_281+36insGGGAGGGGCGGGGGAGGGGCGGGGGAGGGGCG G		MIF	ENSG00000240972.2	transcript	ENST00000215754.8	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr22	TogoVar
MIX23_chr3_122354591_122388231	122356134	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG03195.hp2 HG04204.hp2 HG02074.hp1 HG03195.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011	a0001c0001t0004g0177 a0001c0001t0010g0174 a0001c0001t0011g0156 a0001c0001t0004g0177 a0001c0001t0010g0174 a0001c0001t0011g0156	3	129	0.0233	33	c.37 others(44): Show c.3734_*3735insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		MIX23	ENSG00000160124.9	transcript	ENST00000291458.9	protein_coding					3456		chr3	TogoVar
MLC1_chr22_50054391_50090426	50064040	A A	AGCACCCC others(26): Show AGCACCCCCACCCCACAGGCCACTCACCTCCCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00673.hp1 HG01358.hp1 HG02004.hp1 others(1): Show HG00673.hp1 HG01358.hp1 HG02004.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0165 a0002c0002t0008g0166 a0002c0002t0008g0167 others(1): Show a0002c0002t0008g0165 a0002c0002t0008g0166 a0002c0002t0008g0167 a0002c0002t0008g0168	4	209	0.0191	33	c.105 others(42): Show c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC	p.Ala others(46): Show p.Ala351_Gly352insGlyGluValSerGlyLeuTrpGlyGlyGlyAl a	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	11/12	1183/3457	1052/1134	351/377			chr22	TogoVar
MLF1_chr3_158566194_158611456	158607230	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0222 a0002c0002t0002g0222	1	240	0.0042	33	c.20 others(44): Show c.2028_*2029insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		MLF1	ENSG00000178053.21	transcript	ENST00000466246.7	protein_coding					775		chr3	TogoVar
MLPH_chr2_237482251_237560322	237485052	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG03225.hp1 HG02074.hp2 HG03225.hp1	a0003 a0009 a0003 a0009	a0003c0003 a0009c0009 a0003c0003 a0009c0009	a0003c0003t0001 a0009c0009t0002 a0003c0003t0001 a0009c0009t0002	a0003c0003t0001g0114 a0009c0009t0002g0105 a0003c0003t0001g0114 a0009c0009t0002g0105	2	273	0.0073	33	c.-24 others(44): Show c.-2410_-2409insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding					2198		chr2	TogoVar
MLPH_chr2_237482251_237560322	237543145	G G	GGGGACAG others(26): Show GGGGACAGTGGTGATTTGGGGCACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0276 a0001c0015t0001g0276	1	282	0.0035	33	c.153 others(50): Show c.1539+489_1539+490insACAGTGGTGATTTGGGGCACAGTGGTGA GTGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543318	G G	GGCACGGT others(26): Show GGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0076	1	266	0.0038	33	c.153 others(50): Show c.1539+660_1539+661insCACGGTGGTGAGTGGAGGGGACAGTGGT GAGTG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543370	G G	GAGGGGAC others(26): Show GAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0232 a0002c0002t0004g0232	1	270	0.0037	33	c.153 others(50): Show c.1539+711_1539+712insAGGGGACAGTGGTGAGTGGGGACAGTGG TGAGT		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MLPH_chr2_237482251_237560322	237543634	G G	GGACAGTG others(26): Show GGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0057 a0002c0002t0002g0057	1	263	0.0038	33	c.153 others(50): Show c.1539+975_1539+976insGACAGTGGCAAGTGGGCACAGTGGTGAG TGGGC		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MLPH_chr2_237482251_237560322	237543681	G G	GGGCACAG others(26): Show GGGCACAGTAGTGAGTAGGGGGACAGTGGTGAAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0268 a0008c0011t0002g0268	1	274	0.0036	33	c.153 others(52): Show c.1539+1024_1539+1025insCACAGTAGTGAGTAGGGGGACAGTGG TGAATGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543717	G G	GGGCACGG others(26): Show GGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0001 a0018c0018t0001	a0018c0018t0001g0029 a0018c0018t0001g0030 a0018c0018t0001g0029 a0018c0018t0001g0030	2	242	0.0083	33	c.153 others(52): Show c.1539+1060_1539+1061insCACGGTAGTGAGTGGGGGGACAGTGG TGAGTGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543734	G G	GGGCACGG others(26): Show GGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0077 a0012c0013t0001g0077	1	267	0.0037	33	c.153 others(52): Show c.1539+1077_1539+1078insCACGGTAGTGAGTGGGGGGACAGTGG TGAGTGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544181	G G	GGCACGGT others(26): Show GGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	264	0.0038	33	c.153 others(52): Show c.1539+1523_1539+1524insCACGGTGGTGAGTGGAGGGGACAGTG GTGAGTG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545053	G G	GTGAGTTG others(26): Show GTGAGTTGGGGGACAGTGGTGAATGGGCACGGTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01074.hp2 others(39): Show HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02165.hp1 HG02293.hp2 HG02602.hp1 HG02809.hp2 HG03098.hp2 HG03831.hp2 HG04115.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18957.hp1 NA18964.hp1 NA18967.hp1 NA18975.hp2 NA18978.hp1 NA18990.hp1 NA18998.hp2 NA19000.hp2 NA19003.hp1 NA19010.hp1 NA19060.hp1 NA19067.hp1 NA19081.hp2 NA19085.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0017 a0026	a0001c0001 a0001c0015 a0002c0002 others(7): Show a0001c0001 a0001c0015 a0002c0002 a0002c0043 a0002c0044 a0002c0045 a0004c0005 a0008c0011 a0017c0021 a0026c0051	a0001c0001t0002 a0001c0015t0001 a0002c0002t0001 others(11): Show a0001c0001t0002 a0001c0015t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0043t0001 a0002c0044t0001 a0002c0045t0001 a0004c0005t0002 a0008c0011t0001 a0008c0011t0002 a0017c0021t0002 a0026c0051t0001	a0001c0001t0002g0157 a0001c0015t0001g0162 a0002c0002t0001g0044 others(39): Show a0001c0001t0002g0157 a0001c0015t0001g0162 a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0060 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0130 a0002c0002t0001g0135 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0220 a0002c0002t0001g0247 a0002c0002t0002g0043 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0059 a0002c0002t0002g0062 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0076 a0002c0002t0002g0086 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0003g0079 a0002c0002t0003g0081 a0002c0002t0004g0232 a0002c0043t0001g0064 a0002c0044t0001g0080 a0002c0045t0001g0031 a0004c0005t0002g0183 a0004c0005t0002g0249 a0008c0011t0001g0091 a0008c0011t0002g0268 a0017c0021t0002g0252 a0026c0051t0001g0074	42	231	0.1818	33	c.154 others(52): Show c.1540-1553_1540-1552insTGAGTTGGGGGACAGTGGTGAATGGG CACGGTA		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MLPH_chr2_237482251_237560322	237545182	G G	GGGGGGAC others(26): Show GGGGGGACAGTGGTTAGTGGGGGGACAGTGGTGA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	281	0.0036	33	c.154 others(52): Show c.1540-1423_1540-1422insGGGGACAGTGGTTAGTGGGGGGACAG TGGTGAG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIPL_chr7_73588202_73629522	73589384	A A	AAATATAT others(26): Show AAATATATTTATATAGTTTTATTGATATAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02647.hp1 HG02809.hp2 others(2): Show HG02055.hp2 HG02647.hp1 HG02809.hp2 HG03139.hp1 HG03225.hp1	a0001 a0008 a0001 a0008	a0001c0007 a0001c0010 a0008c0015 a0001c0007 a0001c0010 a0008c0015	a0001c0007t0001 a0001c0010t0001 a0008c0015t0001 a0001c0007t0001 a0001c0010t0001 a0008c0015t0001	a0001c0007t0001g0053 a0001c0007t0001g0241 a0001c0010t0001g0240 others(2): Show a0001c0007t0001g0053 a0001c0007t0001g0241 a0001c0010t0001g0240 a0001c0010t0001g0242 a0008c0015t0001g0084	5	273	0.0183	33	c.44 others(44): Show c.4480_*4481insATATTTATATCAATAAAACTATATAAATATATT		MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding					3817		chr7	TogoVar
MMD2_chr7_4900998_4964187	4915779	T T	TTTTTCTG others(26): Show TTTTTCTGCATAAAATAACTCAAGAAGTGAGTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00597.hp1 others(95): Show HG00099.hp1 HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01257.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp2 HG02165.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp2 NA18981.hp2 NA18982.hp2 NA18986.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0026 a0001c0003t0033 a0001c0005t0003	a0001c0001t0001g0020 a0001c0001t0001g0158 a0001c0001t0001g0214 others(94): Show a0001c0001t0001g0020 a0001c0001t0001g0158 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0246 a0001c0001t0001g0273 a0001c0001t0001g0297 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0337 a0001c0001t0001g0352 a0001c0001t0002g0059 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0154 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0003g0274 a0001c0001t0003g0288 a0001c0001t0003g0311 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0004g0003 a0001c0001t0004g0140 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0289 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0299 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0309 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0345 a0001c0001t0004g0353 a0001c0001t0005g0290 a0001c0001t0005g0312 a0001c0001t0009g0374 a0001c0001t0009g0375 a0001c0001t0009g0376 a0001c0001t0009g0377 a0001c0001t0009g0379 a0001c0001t0010g0041 a0001c0001t0010g0357 a0001c0001t0010g0358 a0001c0001t0022g0293 a0001c0001t0023g0313 a0001c0001t0031g0166 a0001c0002t0004g0328 a0001c0002t0004g0333 a0001c0003t0001g0343 a0001c0003t0003g0320 a0001c0003t0004g0224 a0001c0003t0004g0263 a0001c0003t0004g0319 a0001c0003t0004g0321 a0001c0003t0004g0322 a0001c0003t0004g0323 a0001c0003t0004g0324 a0001c0003t0004g0325 a0001c0003t0004g0326 a0001c0003t0004g0327 a0001c0003t0004g0329 a0001c0003t0004g0330 a0001c0003t0004g0331 a0001c0003t0004g0332 a0001c0003t0004g0339 a0001c0003t0004g0341 a0001c0003t0004g0342 a0001c0003t0026g0338 a0001c0003t0033g0378 a0001c0005t0003g0316	98	379	0.2586	33	c.365 others(48): Show c.365+193_365+225dupTAACTCACTTCTTGAGTTATTTTATGCAGA AAA		MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	4/6						chr7	TogoVar
MMD2_chr7_4900998_4964187	4915804	A A	AGTGAGTT others(26): Show AGTGAGTTATTTTCTGCATAAAATAACTCAAGAG	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18967.hp1 NA19070.hp1 HG02135.hp1 NA18967.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0223	3	380	0.0079	33	c.365 others(48): Show c.365+200_365+201insCTCTTGAGTTATTTTATGCAGAAAATAACT CAC		MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	4/6						chr7	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TTTCTTCT others(26): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02055.hp2 HG02738.hp2 others(3): Show HG01169.hp2 HG02055.hp2 HG02738.hp2 HG04184.hp2 NA19070.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0004t0002	a0001c0001t0001g0220 a0001c0001t0003g0288 a0001c0001t0004g0303 others(3): Show a0001c0001t0001g0220 a0001c0001t0003g0288 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0002t0001g0030 a0001c0004t0002g0317	6	22	0.2727	33	c.47+ others(50): Show c.47+13753_47+13785dupGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAA		MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6						chr7	TogoVar
MME_chr3_155075319_155188704	155133062	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0072 a0001c0001t0009g0072	1	170	0.0059	33	c.721 others(50): Show c.721-5039_721-5038insATATATATATATATATATATATATATAT ATATA		MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	8/22					INFO_REALIGN_3_PRIME	chr3	TogoVar
MMP17_chr12_131823393_131856771	131827365	G G	GGGGGGGG others(26): Show GGGGGGGGGGGGGGGGGAGGGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0008 a0001c0003t0009g0008	1	370	0.0027	33	c.-11 others(44): Show c.-1130_-1129insGGGGGGGGGGGGGGGGAGGGGGGGGGGTGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1027		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827365	G G	GGGGGGGG others(26): Show GGGGGGGGGGGGGGGGGGAGGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	370	0.0027	33	c.-11 others(44): Show c.-1130_-1129insGGGGGGGGGGGGGGGGGAGGGGGGGGGTGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1027		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827368	G G	GGGGGGGG others(26): Show GGGGGGGGGGGGGGGGAGGGGGGGGTGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0030 a0001c0003t0009g0030	1	387	0.0026	33	c.-11 others(44): Show c.-1127_-1126insGGGGGGGGGGGGGGGAGGGGGGGGTGGGGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1024		chr12	TogoVar
MMP26_chr11_4699784_4997429	4986934	T T	TCTCTCTC others(26): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	202	0.0050	33	c.-14 others(52): Show c.-144-1109_-144-1108insTCTCTCTCCTCTCTCTCTCTCTCTCT CTCTCTC		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP28_chr17_35760865_35800641	35786699	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0218 a0001c0003t0001g0218	1	163	0.0061	33	c.112 others(50): Show c.112-7377_112-7376insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		MMP28	ENSG00000271447.6	transcript	ENST00000605424.6	protein_coding	1/7						chr17	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02622.hp2 HG01167.hp2 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0158 a0002c0002t0001g0055 a0001c0001t0001g0158 a0002c0002t0001g0055	2	169	0.0118	33	c.226 others(50): Show c.226-3489_226-3488insATATATATATATATATATTTTTTTTTTT TTTTT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0110 a0007c0009t0001g0110	1	168	0.0060	33	c.226 others(50): Show c.226-3489_226-3488insATATATATATATATATATATATTTTTTT TTTTT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19058.hp1 HG00609.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0186 a0001c0001t0008g0222 a0001c0001t0001g0186 a0001c0001t0008g0222	2	169	0.0118	33	c.226 others(50): Show c.226-3489_226-3488insATATATATATATATATATATATATTTTT TTTTT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	168	0.0060	33	c.226 others(50): Show c.226-3489_226-3488insGTATATATATATATATATATATATATTT TTTTT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0168 a0001c0001t0009g0168	1	168	0.0060	33	c.226 others(50): Show c.226-3489_226-3488insATATATATATATATATATATATATATTT TTTTT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MON1A_chr3_49903873_49934811	49911243	T T	TGATAGAT others(26): Show TGATAGATACATAGATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	260	0.0038	33	c.613 others(48): Show c.613+282_613+283insCTATCTATCTATCTATCTATCTATGTATCT ATC		MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5						chr3	TogoVar

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