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
MARCHF1_chr4_163519718_164389019	164274659	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19240.hp1 HG02257.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0002c0003t0005 a0001c0001t0007 a0002c0003t0005	a0001c0001t0007g0043 a0002c0003t0005g0045 a0001c0001t0007g0043 a0002c0003t0005g0045	2	102	0.0196	-15	c.-32 others(38): Show c.-323+109196_-323+109210delAAAAAAAAAAAAAAA		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9						chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164345573	CATAATAA others(8): Show CATAATAATAATAATA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01071.hp1 HG01109.hp2 others(16): Show HG00438.hp2 HG01071.hp1 HG01109.hp2 HG01261.hp1 HG01496.hp2 HG02080.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp2 HG02723.hp2 HG03139.hp2 HG03486.hp2 HG03516.hp2 NA18906.hp1 NA18952.hp2 NA18969.hp2 NA18984.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0002t0002 a0001c0002t0015 a0001c0002t0027 a0001c0005t0016 a0001c0008t0012 a0001c0009t0012 a0002c0004t0003 a0002c0004t0029	a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0004g0100 others(16): Show a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0004g0100 a0001c0001t0005g0021 a0001c0001t0006g0053 a0001c0001t0007g0049 a0001c0001t0007g0051 a0001c0001t0013g0015 a0001c0002t0002g0020 a0001c0002t0002g0023 a0001c0002t0002g0030 a0001c0002t0002g0080 a0001c0002t0015g0050 a0001c0002t0027g0046 a0001c0005t0016g0048 a0001c0008t0012g0026 a0001c0009t0012g0071 a0002c0004t0003g0081 a0002c0004t0029g0047	19	102	0.1863	-15	c.-32 others(36): Show c.-323+38282_-323+38296delTATTATTATTATTAT		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9						chr4	TogoVar
MARCHF2_chr19_8408305_8444017	8426230	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp2 HG01891.hp1 others(9): Show HG00323.hp1 HG01109.hp2 HG01891.hp1 HG02055.hp2 HG02451.hp1 HG02809.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03688.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0347 a0001c0001t0006g0350 a0001c0001t0009g0237 others(9): Show a0001c0001t0006g0347 a0001c0001t0006g0350 a0001c0001t0009g0237 a0001c0001t0009g0325 a0001c0001t0009g0331 a0001c0001t0009g0332 a0001c0001t0009g0333 a0001c0001t0009g0334 a0001c0001t0009g0348 a0001c0001t0009g0349 a0001c0001t0009g0351 a0001c0001t0009g0353	12	392	0.0306	-15	c.177 others(30): Show c.177-370_177-356delAAAAAAAAAAAAAAA		MARCHF2	ENSG00000099785.11	transcript	ENST00000215555.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
MARCHF3_chr5_126862714_127035558	126913976	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0277 a0001c0001t0024g0277	1	296	0.0034	-15	c.393 others(30): Show c.393+939_393+953delAAAAAAAAAAAAAAA		MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	3/4						chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126956645	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	296	0.0034	-15	c.-56 others(34): Show c.-56-38433_-56-38419delTTTTTTTTTTTTTTT		MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	1/4						chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126966905	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG02280.hp1 others(13): Show HG00438.hp1 HG00621.hp2 HG02280.hp1 HG02523.hp1 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03139.hp2 HG03471.hp1 NA18940.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0017 a0001c0001t0028 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0062	a0001c0001t0001g0065 a0001c0001t0001g0085 a0001c0001t0001g0092 others(13): Show a0001c0001t0001g0065 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0011g0223 a0001c0001t0011g0224 a0001c0001t0017g0189 a0001c0001t0017g0222 a0001c0001t0028g0256 a0001c0001t0028g0257 a0001c0001t0049g0237 a0001c0001t0050g0236 a0001c0001t0051g0238 a0001c0001t0062g0190	16	296	0.0541	-15	c.-56 others(34): Show c.-56-48693_-56-48679delAAAAAAAAAAAAAAA		MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	1/4						chr5	TogoVar
MARCHF4_chr2_216252865_216377483	216320660	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02280.hp1 HG02735.hp1 others(5): Show HG00408.hp2 HG02280.hp1 HG02735.hp1 HG03486.hp1 NA18945.hp1 NA18986.hp2 NA19007.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0002 a0001c0002t0005 others(2): Show a0001c0001t0027 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0042	a0001c0001t0027g0006 a0001c0002t0002g0205 a0001c0002t0002g0306 others(5): Show a0001c0001t0027g0006 a0001c0002t0002g0205 a0001c0002t0002g0306 a0001c0002t0002g0308 a0001c0002t0002g0310 a0001c0002t0005g0074 a0001c0002t0008g0262 a0001c0002t0042g0294	8	330	0.0242	-15	c.517 others(34): Show c.517-36946_517-36932delGAAAGAAAGAAAGAA		MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3						chr2	TogoVar
MARCHF5_chr10_92286167_92358964	92322244	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0025 a0001c0001t0008g0025	1	306	0.0033	-15	c.238 others(34): Show c.238+10921_238+10935delAAAAAAAAAAAAAAA		MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr10	TogoVar
MARCHF6_chr5_10348695_10445388	10356343	ATTTATTT others(8): Show ATTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03017.hp2 NA19030.hp1 HG01099.hp1 HG03017.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0114 a0001c0002t0165 a0001c0001t0004 a0001c0001t0114 a0001c0002t0165	a0001c0001t0004g0103 a0001c0001t0114g0102 a0001c0002t0165g0166 a0001c0001t0004g0103 a0001c0001t0114g0102 a0001c0002t0165g0166	3	284	0.0106	-15	c.19+ others(30): Show c.19+2480_19+2494delATTTTATTTTATTTT		MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCHF6_chr5_10348695_10445388	10435697	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0163 a0001c0004t0163	a0001c0004t0163g0163 a0001c0004t0163g0163	1	284	0.0035	-15	c.20 others(26): Show c.2030_*2044delTTTTTTTTTTTTTTT		MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26				2030	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCHF7_chr2_159707506_159776027	159726218	GGTTTTGT others(8): Show GGTTTTGTTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(96): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00673.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04204.hp2 HG06807.hp2 NA18940.hp1 NA18941.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18963.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18978.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp1 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19075.hp2 NA19083.hp2 NA19086.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0013	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0001c0014 a0002c0005 a0004c0007 a0008c0013 a0013c0019	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(14): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0029 a0001c0001t0038 a0001c0002t0001 a0001c0004t0018 a0001c0004t0023 a0001c0004t0028 a0001c0004t0040 a0001c0011t0002 a0001c0014t0002 a0002c0005t0003 a0004c0007t0011 a0008c0013t0014 a0013c0019t0018	a0001c0001t0002g0003 a0001c0001t0002g0020 a0001c0001t0002g0021 others(84): Show a0001c0001t0002g0003 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0158 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0006g0019 a0001c0001t0006g0232 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0244 a0001c0001t0006g0247 a0001c0001t0006g0305 a0001c0001t0012g0240 a0001c0001t0012g0241 a0001c0001t0012g0242 a0001c0001t0012g0243 a0001c0001t0012g0245 a0001c0001t0012g0246 a0001c0001t0015g0295 a0001c0001t0015g0318 a0001c0001t0029g0265 a0001c0001t0038g0275 a0001c0002t0001g0130 a0001c0004t0018g0225 a0001c0004t0023g0017 a0001c0004t0028g0227 a0001c0004t0040g0211 a0001c0011t0002g0264 a0001c0014t0002g0259 a0002c0005t0003g0042 a0002c0005t0003g0043 a0004c0007t0011g0013 a0004c0007t0011g0171 a0004c0007t0011g0172 a0004c0007t0011g0173 a0004c0007t0011g0174 a0004c0007t0011g0176 a0004c0007t0011g0177 a0008c0013t0014g0301 a0013c0019t0018g0226	99	364	0.2720	-15	c.-14 others(32): Show c.-14-2745_-14-2731delGTTTTGTTTTGTTTT		MARCHF7	ENSG00000136536.15	transcript	ENST00000409175.6	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
MARCHF7_chr2_159707506_159776027	159743990	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01106.hp1 others(10): Show HG00738.hp2 HG00741.hp2 HG01106.hp1 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01943.hp2 HG01952.hp2 HG02004.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0087 a0001c0002t0001g0138 others(4): Show a0001c0002t0001g0001 a0001c0002t0001g0087 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142	13	364	0.0357	-15	c.346 others(30): Show c.346+738_346+752delTTTTTTTTTTTTTTG		MARCHF7	ENSG00000136536.15	transcript	ENST00000409175.6	protein_coding	5/11						chr2	TogoVar
MARCHF7_chr2_159707506_159776027	159770683	TTTAGATA others(8): Show TTTAGATACACAAATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0039 a0003c0006t0039	a0003c0006t0039g0011 a0003c0006t0039g0011	1	364	0.0028	-15	c.33 others(26): Show c.3344_*3358delAGATACACAAATATT		MARCHF7	ENSG00000136536.15	transcript	ENST00000409175.6	protein_coding	12/12				3344	INFO_REALIGN_3_PRIME	chr2	TogoVar
MARCHF8_chr10_45449585_45540371	45484365	TGGTCAAG others(8): Show TGGTCAAGGACCCTGC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01261.hp1 HG01928.hp1 others(11): Show HG00673.hp1 HG01261.hp1 HG01928.hp1 HG01993.hp2 HG02129.hp2 NA18948.hp2 NA18957.hp1 NA18961.hp2 NA18974.hp2 NA18987.hp2 NA19002.hp2 NA19007.hp2 NA19079.hp2 NA19082.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0029 a0004c0003t0004g0030 a0004c0003t0004g0294 others(9): Show a0004c0003t0004g0029 a0004c0003t0004g0030 a0004c0003t0004g0294 a0004c0003t0004g0295 a0004c0003t0004g0296 a0004c0003t0004g0297 a0004c0003t0004g0298 a0004c0003t0004g0299 a0004c0003t0004g0300 a0004c0003t0004g0301 a0004c0003t0004g0302 a0004c0003t0004g0303	14	348	0.0402	-15	c.153 others(32): Show c.153+4987_153+5001delGCAGGGTCCTTGACC		MARCHF8	ENSG00000165406.16	transcript	ENST00000453424.7	protein_coding	3/7						chr10	TogoVar
MARCHF8_chr10_45449585_45540371	45536835	AAATAATA others(8): Show AAATAATAATAATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0305 a0006c0010t0002g0305	1	348	0.0029	-15	c.-17 others(26): Show c.-1718_-1704delATTATTATTATTATT		MARCHF8	ENSG00000165406.16	transcript	ENST00000453424.7	protein_coding					1465		chr10	TogoVar
MARK1_chr1_220523136_220669461	220592219	CATATTAT others(8): Show CATATTATATTATATT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01515.hp1 HG01517.hp2 others(2): Show HG00733.hp1 HG01515.hp1 HG01517.hp2 HG03669.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0066 a0001c0001t0001g0090 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0066 a0001c0001t0001g0090 a0001c0001t0001g0241	5	298	0.0168	-15	c.310 others(32): Show c.310-6073_310-6059delTTATATTATATTATA		MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
MARK2_chr11_63834110_63916020	63856768	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp2 HG01099.hp2 others(26): Show HG00099.hp1 HG01071.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG02135.hp1 HG02273.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03516.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG06807.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0027 a0001c0001t0028 a0002c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0073 a0001c0001t0001g0114 others(25): Show a0001c0001t0001g0004 a0001c0001t0001g0073 a0001c0001t0001g0114 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0079 a0001c0001t0004g0081 a0001c0001t0004g0225 a0001c0001t0006g0134 a0001c0001t0006g0138 a0001c0001t0014g0061 a0001c0001t0014g0080 a0001c0001t0027g0059 a0001c0001t0028g0067 a0002c0005t0001g0021	29	232	0.1250	-15	c.54+ others(32): Show c.54+17231_54+17245delTTTTTTTTTTTTTTT		MARK2	ENSG00000072518.23	transcript	ENST00000402010.8	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
MARK3_chr14_103380415_103508831	103399699	CAAAAAAA others(8): Show CAAAAAAAAAAAAAGA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	348	0.0029	-15	c.52- others(30): Show c.52-5359_52-5345delAAAAAAAAAAAGAAA		MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103417068	AGTGGGAA others(8): Show AGTGGGAAGAGTCAGC	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	348	0.0029	-15	c.244 others(34): Show c.244-11318_244-11304delGTGGGAAGAGTCAGC		MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	2/17						chr14	TogoVar
MARK3_chr14_103380415_103508831	103450921	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02896.hp1 others(4): Show HG02109.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0004 a0001c0001t0001 a0001c0001t0004 a0001c0004t0004	a0001c0001t0001g0099 a0001c0001t0004g0084 a0001c0001t0004g0085 others(4): Show a0001c0001t0001g0099 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0088 a0001c0004t0004g0086 a0001c0004t0004g0087 a0001c0004t0004g0089	7	348	0.0201	-15	c.347 others(30): Show c.347-984_347-970delTTTTTTTTTTTTTTT		MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr14	TogoVar
MAS1_chr6_159885988_159922447	159911328	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02723.hp2 HG02559.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0039 a0001c0001t0040g0039	2	348	0.0058	-15	c.34 others(26): Show c.3405_*3419delTTTTTTTTTTTTTTT		MAS1	ENSG00000130368.7	transcript	ENST00000674077.2	protein_coding	3/3				3405	INFO_REALIGN_3_PRIME	chr6	TogoVar
MASP2_chr1_11021523_11052239	11036523	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0002 a0002c0025t0002	a0002c0025t0002g0271 a0002c0025t0002g0271	1	346	0.0029	-15	c.100 others(34): Show c.1008+1155_1008+1169delGTTTTTTTTTTTTTT		MASP2	ENSG00000009724.18	transcript	ENST00000400897.8	protein_coding	7/10						chr1	TogoVar
MAST1_chr19_12833515_12879952	12853871	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01928.hp1 HG01993.hp2 others(13): Show HG01167.hp1 HG01928.hp1 HG01993.hp2 HG02129.hp1 HG02273.hp2 HG02683.hp1 HG02717.hp2 HG03098.hp1 HG03491.hp2 HG03492.hp2 HG03942.hp2 NA18906.hp1 NA18940.hp1 NA18950.hp1 NA18951.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0005 a0001c0001t0001g0194 a0001c0001t0001g0243 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0194 a0001c0001t0001g0243 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0011t0001g0005	16	316	0.0506	-15	c.107 others(34): Show c.1077+1501_1077+1515delAATAATAATAATAAT		MAST1	ENSG00000105613.10	transcript	ENST00000251472.9	protein_coding	10/25					INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST2_chr1_45798612_46041122	45888663	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02486.hp1 HG02559.hp2 others(7): Show HG00673.hp2 HG02486.hp1 HG02559.hp2 HG03486.hp2 NA19000.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA20129.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0012 a0001c0001 a0002c0002 a0009c0012	a0001c0001t0001 a0002c0002t0001 a0009c0012t0001 a0001c0001t0001 a0002c0002t0001 a0009c0012t0001	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0221 others(7): Show a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0221 a0001c0001t0001g0257 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0009c0012t0001g0238 a0009c0012t0001g0241	10	288	0.0347	-15	c.500 others(32): Show c.500+6290_500+6304delTTTTTTTTTTTTTTT		MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45911853	ATATTATT others(8): Show ATATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(25): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp2 HG01943.hp1 HG02486.hp2 HG02602.hp1 HG02683.hp1 HG02735.hp2 HG02818.hp2 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03453.hp1 HG03540.hp2 HG03654.hp2 homoSapiens_chm13v2.hp1	a0004 a0005 a0021 a0004 a0005 a0021	a0004c0004 a0004c0011 a0005c0005 others(1): Show a0004c0004 a0004c0011 a0005c0005 a0021c0036	a0004c0004t0001 a0004c0011t0001 a0005c0005t0001 others(2): Show a0004c0004t0001 a0004c0011t0001 a0005c0005t0001 a0005c0005t0004 a0021c0036t0001	a0004c0004t0001g0261 a0004c0004t0001g0262 a0004c0004t0001g0263 others(25): Show a0004c0004t0001g0261 a0004c0004t0001g0262 a0004c0004t0001g0263 a0004c0004t0001g0266 a0004c0004t0001g0267 a0004c0004t0001g0268 a0004c0004t0001g0269 a0004c0004t0001g0270 a0004c0004t0001g0271 a0004c0004t0001g0272 a0004c0004t0001g0273 a0004c0004t0001g0274 a0004c0004t0001g0275 a0004c0004t0001g0276 a0004c0004t0001g0279 a0004c0004t0001g0282 a0004c0011t0001g0264 a0004c0011t0001g0265 a0005c0005t0001g0277 a0005c0005t0001g0278 a0005c0005t0001g0280 a0005c0005t0001g0281 a0005c0005t0001g0284 a0005c0005t0001g0286 a0005c0005t0001g0287 a0005c0005t0001g0288 a0005c0005t0004g0283 a0021c0036t0001g0285	28	288	0.0972	-15	c.500 others(34): Show c.500+29492_500+29506delTATTATTATTATTAT		MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST3_chr19_18092778_18156687	18104179	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18986.hp1 NA20300.hp2 HG04115.hp2 NA18986.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0003 a0001c0011t0005 a0001c0002t0003 a0001c0011t0005	a0001c0002t0003g0113 a0001c0002t0003g0127 a0001c0011t0005g0126 a0001c0002t0003g0113 a0001c0002t0003g0127 a0001c0011t0005g0126	3	296	0.0101	-15	c.40- others(30): Show c.40-3382_40-3368delAAAAAAAAAAAAAAA		MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST3_chr19_18092778_18156687	18116982	AAGTGTCC others(8): Show AAGTGTCCTGTGGCCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00544.hp1 others(129): Show HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0002 a0001c0003 a0001c0006 others(6): Show a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0002c0001 a0002c0025 a0002c0027 a0007c0023 a0009c0026	a0001c0002t0014 a0001c0003t0002 a0001c0006t0005 others(11): Show a0001c0002t0014 a0001c0003t0002 a0001c0006t0005 a0001c0008t0004 a0002c0001t0001 a0002c0001t0008 a0002c0001t0012 a0002c0001t0013 a0002c0001t0015 a0002c0001t0021 a0002c0025t0001 a0002c0027t0001 a0007c0023t0001 a0009c0026t0001	a0001c0002t0014g0268 a0001c0003t0002g0162 a0001c0003t0002g0163 others(128): Show a0001c0002t0014g0268 a0001c0003t0002g0162 a0001c0003t0002g0163 a0001c0003t0002g0176 a0001c0003t0002g0248 a0001c0006t0005g0070 a0001c0006t0005g0080 a0001c0006t0005g0081 a0001c0006t0005g0082 a0001c0008t0004g0164 a0001c0008t0004g0165 a0001c0008t0004g0173 a0001c0008t0004g0249 a0001c0008t0004g0250 a0002c0001t0001g0004 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0079 a0002c0001t0001g0083 a0002c0001t0001g0087 a0002c0001t0001g0128 a0002c0001t0001g0129 a0002c0001t0001g0134 a0002c0001t0001g0145 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0154 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0161 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0170 a0002c0001t0001g0171 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0181 a0002c0001t0001g0182 a0002c0001t0001g0183 a0002c0001t0001g0184 a0002c0001t0001g0185 a0002c0001t0001g0186 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0195 a0002c0001t0001g0196 a0002c0001t0001g0197 a0002c0001t0001g0198 a0002c0001t0001g0199 a0002c0001t0001g0200 a0002c0001t0001g0202 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0205 a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0213 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0217 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0247 a0002c0001t0001g0251 a0002c0001t0001g0258 a0002c0001t0001g0259 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0262 a0002c0001t0001g0263 a0002c0001t0001g0265 a0002c0001t0001g0266 a0002c0001t0001g0267 a0002c0001t0001g0269 a0002c0001t0001g0270 a0002c0001t0001g0271 a0002c0001t0001g0274 a0002c0001t0001g0275 a0002c0001t0001g0277 a0002c0001t0001g0278 a0002c0001t0001g0279 a0002c0001t0001g0280 a0002c0001t0001g0282 a0002c0001t0001g0288 a0002c0001t0001g0290 a0002c0001t0008g0078 a0002c0001t0008g0144 a0002c0001t0008g0190 a0002c0001t0008g0223 a0002c0001t0008g0224 a0002c0001t0008g0273 a0002c0001t0012g0281 a0002c0001t0013g0230 a0002c0001t0015g0172 a0002c0001t0021g0201 a0002c0025t0001g0252 a0002c0027t0001g0212 a0007c0023t0001g0272 a0009c0026t0001g0276	132	296	0.4460	-15	c.162 others(32): Show c.162-4700_162-4686delTGTCCTGTGGCCCAG		MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	66685262	CAAACAAA others(8): Show CAAACAAAACAAAACA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01168.hp2 others(35): Show HG00323.hp1 HG00741.hp1 HG01168.hp2 HG01361.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02738.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03540.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0013 a0015 a0016 a0018	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0021 a0001c0036 a0001c0039 a0002c0004 a0003c0005 a0003c0013 a0004c0007 a0004c0011 a0004c0015 a0004c0017 a0005c0006 a0006c0038 a0008c0010 a0013c0027 a0015c0020 a0016c0016 a0018c0025	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(29): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0008t0003 a0001c0008t0006 a0001c0009t0002 a0001c0021t0001 a0001c0036t0012 a0001c0039t0032 a0002c0004t0002 a0002c0004t0012 a0003c0005t0010 a0003c0013t0017 a0004c0007t0003 a0004c0007t0009 a0004c0007t0021 a0004c0011t0005 a0004c0015t0004 a0004c0017t0005 a0005c0006t0001 a0005c0006t0005 a0006c0038t0031 a0008c0010t0013 a0008c0010t0022 a0013c0027t0009 a0015c0020t0013 a0016c0016t0005 a0018c0025t0006	a0001c0001t0003g0036 a0001c0001t0006g0108 a0001c0001t0008g0028 others(35): Show a0001c0001t0003g0036 a0001c0001t0006g0108 a0001c0001t0008g0028 a0001c0001t0008g0079 a0001c0001t0008g0087 a0001c0001t0009g0056 a0001c0002t0001g0027 a0001c0002t0003g0039 a0001c0003t0001g0095 a0001c0003t0001g0098 a0001c0008t0003g0040 a0001c0008t0006g0084 a0001c0009t0002g0006 a0001c0021t0001g0096 a0001c0036t0012g0015 a0001c0039t0032g0017 a0002c0004t0002g0020 a0002c0004t0002g0021 a0002c0004t0002g0024 a0002c0004t0012g0002 a0003c0005t0010g0083 a0003c0005t0010g0099 a0003c0013t0017g0010 a0004c0007t0003g0062 a0004c0007t0009g0058 a0004c0007t0021g0057 a0004c0011t0005g0060 a0004c0015t0004g0065 a0004c0017t0005g0063 a0005c0006t0001g0094 a0005c0006t0005g0037 a0006c0038t0031g0014 a0008c0010t0013g0061 a0008c0010t0022g0064 a0013c0027t0009g0031 a0015c0020t0013g0004 a0016c0016t0005g0059 a0018c0025t0006g0072	38	108	0.3519	-15	c.364 others(34): Show c.364-74417_364-74403delAAAACAAAACAAAAC		MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67166219	AACAGACA others(8): Show AACAGACAGACAACAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG01891.hp1	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0009 a0013c0027t0009	a0013c0027t0009g0031 a0013c0027t0009g0031	1	108	0.0093	-15	c.705 others(24): Show c.7053_7067delCAGACAGACAGACAA	p.Asn others(15): Show p.Asn2351_Asp2355del	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	29/29	7316/10677	7053/7872	2351/2623		INFO_REALIGN_3_PRIME	chr5	TogoVar
MASTL_chr10_27150352_27192953	27171410	AATTATTA others(8): Show AATTATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01123.hp1 others(26): Show HG00735.hp2 HG01109.hp1 HG01123.hp1 HG01255.hp2 HG01256.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02922.hp1 HG02976.hp1 HG06807.hp2 NA18906.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18957.hp2 NA18987.hp2 NA19009.hp2 NA19012.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0025	a0001c0001t0002g0187 a0001c0001t0003g0002 a0001c0001t0003g0012 others(14): Show a0001c0001t0002g0187 a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0003g0026 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0208 a0001c0001t0015g0199 a0001c0001t0025g0192	29	398	0.0729	-15	c.212 others(32): Show c.2124+355_2124+369delATTATTATTATTATT		MASTL	ENSG00000120539.15	transcript	ENST00000375940.9	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr10	TogoVar
MAT1A_chr10_80266820_80294658	80269933	TATTTAAA others(8): Show TATTTAAAGAACTACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	372	0.0027	-15	c.38 others(26): Show c.3833_*3847delTGTAGTTCTTTAAAT		MAT1A	ENSG00000151224.13	transcript	ENST00000372213.8	protein_coding					1886		chr10	TogoVar
MAT2A_chr2_85534168_85550281	85549062	AACCTGAC others(8): Show AACCTGACCACCATCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	-15	c.52 others(26): Show c.5291_*5305delACCTGACCACCATCC		MAT2A	ENSG00000168906.13	transcript	ENST00000306434.8	protein_coding					3782		chr2	TogoVar
MATK_chr19_3772973_3791381	3788097	TTTATATT others(8): Show TTTATATTATATTATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG02071.hp2 others(34): Show HG00408.hp2 HG00597.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02615.hp1 HG02683.hp1 HG03239.hp2 HG03710.hp2 HG03831.hp1 HG04184.hp1 HG04228.hp2 NA18612.hp2 NA18942.hp1 NA18961.hp2 NA18971.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19058.hp1 NA19064.hp2 NA19068.hp2 NA19079.hp2 NA19082.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0004g0058 a0002c0002t0001g0042	37	434	0.0853	-15	c.-20 others(26): Show c.-2095_-2081delTATAATATAATATAA		MATK	ENSG00000007264.15	transcript	ENST00000310132.11	protein_coding					1717		chr19	TogoVar
MAU2_chr19_19315829_19363754	19320880	AGCGGCCC others(8): Show AGCGGCCCAGGCGGCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0005	a0002c0010t0005g0115 a0002c0010t0005g0115	1	344	0.0029	-15	c.33_ others(20): Show c.33_47delGGCGGCGGCCCAGGC	p.Ala others(11): Show p.Ala12_Ala16del	MAU2	ENSG00000129933.21	transcript	ENST00000262815.13	protein_coding	1/19	64/4845	33/1842	11/613		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAX_chr14_65070127_65107517	65089756	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp1 HG01884.hp2 others(17): Show HG00673.hp2 HG01243.hp1 HG01884.hp2 HG02129.hp2 HG02273.hp1 HG02273.hp2 HG02738.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp2 HG03927.hp2 HG04115.hp2 NA18939.hp1 NA18945.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19064.hp2 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0023	a0001c0001t0001g0048 a0001c0001t0002g0015 a0001c0001t0002g0108 others(10): Show a0001c0001t0001g0048 a0001c0001t0002g0015 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0119 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0003g0013 a0001c0001t0003g0073 a0001c0001t0005g0173 a0001c0001t0013g0172 a0001c0001t0014g0174 a0001c0001t0023g0112	20	382	0.0524	-15	c.171 others(32): Show c.171+3937_171+3951delTTTTTTTTTTTTTTT		MAX	ENSG00000125952.21	transcript	ENST00000358664.9	protein_coding	3/4						chr14	TogoVar
MAZ_chr16_29801529_29816164	29810099	GGCGGCGG others(8): Show GGCGGCGGCAGCGGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02735.hp2 HG03017.hp1 HG02735.hp2 HG03017.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0001 a0004c0006t0001g0001	2	282	0.0071	-15	c.132 others(24): Show c.1320_1334delGGCGGCAGCGGCAGC	p.Ala others(13): Show p.Ala441_Ala445del	MAZ	ENSG00000103495.15	transcript	ENST00000322945.11	protein_coding	5/5	1493/2540	1320/1434	440/477		INFO_REALIGN_3_PRIME	chr16	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(8): Show CATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02071.hp2 HG03831.hp2 HG00558.hp1 HG02071.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0226 a0001c0001t0001g0274 a0001c0001t0002g0072 a0001c0001t0001g0226 a0001c0001t0001g0274 a0001c0001t0002g0072	3	298	0.0101	-15	c.212 others(34): Show c.212-28956_212-28942delTATATATATATATAT		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1						chr3	TogoVar
MB21D2_chr3_192791815_192922856	192828593	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0044 a0001c0002t0003g0044	1	298	0.0034	-15	c.212 others(34): Show c.212-28958_212-28944delTATATATATATATAT		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1						chr3	TogoVar
MBD3L1_chr19_8827377_8848319	8827571	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02055.hp1 HG02055.hp2 others(13): Show HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03453.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0061 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205	16	428	0.0374	-15	c.-50 others(26): Show c.-5057_-5043delTTTTTTTTTTTTTTT		MBD3L1	ENSG00000170948.4	transcript	ENST00000595891.2	protein_coding					4805		chr19	TogoVar
MBD3L2B_chr19_7013969_7026431	7022049	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG00738.hp1 others(5): Show HG00642.hp2 HG00735.hp1 HG00738.hp1 HG02300.hp1 HG03654.hp2 HG04199.hp1 NA18522.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0003 a0002c0002t0001 a0001c0001t0001 a0001c0003t0003 a0002c0002t0001	a0001c0001t0001g0042 a0001c0003t0003g0008 a0002c0002t0001g0028 a0001c0001t0001g0042 a0001c0003t0003g0008 a0002c0002t0001g0028	8	350	0.0229	-15	c.-66 others(24): Show c.-667_-653delCTTTTTTTTTTTTTT		MBD3L2B	ENSG00000196589.8	transcript	ENST00000636986.2	protein_coding					619		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035407	CATAATAT others(8): Show CATAATATATAATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0011 a0001c0006t0002g0011	1	262	0.0038	-15	c.24 others(26): Show c.2439_*2453delTATATTATATATTAT		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding					2341		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7042868	ACCCAGGC others(8): Show ACCCAGGCTGGAGTGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	262	0.0038	-15	c.-27 others(26): Show c.-2739_-2725delGCACTCCAGCCTGGG		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding					2690		chr19	TogoVar
MBD5_chr2_148016091_148521971	148021483	GCTGCTGC others(8): Show GCTGCTGCTGCTGCTA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0003 a0001c0001t0030g0003	1	188	0.0053	-15	c.-10 others(26): Show c.-1099_-1085delGCTACTGCTGCTGCT		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	1/14				437235	INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294196	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(156): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19087.hp1 NA19087.hp2 NA20129.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0002c0013 a0003c0010 a0004c0012 a0005c0006 a0006c0008 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0002t0003 a0001c0002t0015 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0004t0001 a0001c0007t0001 a0001c0009t0002 a0002c0013t0002 a0003c0010t0002 a0004c0012t0005 a0005c0006t0001 a0006c0008t0002 a0007c0011t0005	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(156): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0068 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0120 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0156 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0047 a0001c0001t0003g0059 a0001c0001t0003g0073 a0001c0001t0003g0111 a0001c0001t0004g0038 a0001c0001t0004g0046 a0001c0001t0004g0049 a0001c0001t0004g0052 a0001c0001t0004g0065 a0001c0001t0004g0083 a0001c0001t0004g0092 a0001c0001t0004g0096 a0001c0001t0004g0143 a0001c0001t0004g0183 a0001c0001t0005g0030 a0001c0001t0005g0072 a0001c0001t0005g0132 a0001c0001t0005g0145 a0001c0001t0006g0074 a0001c0001t0006g0160 a0001c0001t0006g0177 a0001c0001t0007g0010 a0001c0001t0007g0104 a0001c0001t0007g0161 a0001c0001t0007g0187 a0001c0001t0008g0017 a0001c0001t0009g0027 a0001c0001t0009g0115 a0001c0001t0009g0116 a0001c0001t0010g0033 a0001c0001t0010g0086 a0001c0001t0011g0031 a0001c0001t0011g0114 a0001c0001t0013g0081 a0001c0001t0013g0166 a0001c0001t0014g0018 a0001c0001t0014g0151 a0001c0001t0015g0023 a0001c0001t0016g0139 a0001c0001t0017g0079 a0001c0001t0019g0146 a0001c0001t0020g0109 a0001c0001t0021g0097 a0001c0001t0024g0105 a0001c0001t0026g0163 a0001c0001t0027g0076 a0001c0001t0028g0138 a0001c0001t0029g0186 a0001c0001t0030g0003 a0001c0001t0031g0048 a0001c0002t0003g0100 a0001c0002t0003g0141 a0001c0002t0015g0056 a0001c0003t0001g0075 a0001c0003t0003g0149 a0001c0003t0008g0150 a0001c0004t0001g0144 a0001c0007t0001g0045 a0001c0009t0002g0043 a0002c0013t0002g0025 a0003c0010t0002g0004 a0004c0012t0005g0118 a0005c0006t0001g0134 a0006c0008t0002g0119 a0007c0011t0005g0057	159	188	0.8457	-15	c.-67 others(36): Show c.-679-47986_-679-47972delTTTTTTTTTTTTTTT		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148389248	AAACATAT others(8): Show AAACATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 NA19030.hp2 HG01243.hp1 HG02280.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0073 a0001c0001t0003g0111 a0001c0001t0020g0109 a0001c0001t0003g0073 a0001c0001t0003g0111 a0001c0001t0020g0109	3	188	0.0160	-15	c.-55 others(36): Show c.-557+46914_-557+46928delACATATATATATATA		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148420697	ATGTTTTG others(8): Show ATGTTTTGTTTTGTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18522.hp2 HG02280.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0179 a0001c0001t0002g0137 a0001c0001t0002g0179	2	188	0.0106	-15	c.-55 others(36): Show c.-556-37472_-556-37458delTTTGTTTTGTTTTGT		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148424177	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0005 a0007c0011t0005	a0007c0011t0005g0057 a0007c0011t0005g0057	1	188	0.0053	-15	c.-55 others(36): Show c.-556-34001_-556-33987delAAAAAAAAAAAAAAA		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBLAC1_chr7_100121967_100133495	100131234	TTTTTCTT others(8): Show TTTTTCTTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00738.hp2 others(22): Show HG00544.hp1 HG00597.hp1 HG00738.hp2 HG01081.hp1 HG01175.hp2 HG01496.hp1 HG01934.hp2 HG04115.hp2 NA18942.hp1 NA18950.hp2 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18986.hp2 NA18995.hp1 NA19000.hp2 NA19004.hp2 NA19060.hp1 NA19068.hp2 NA19079.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0002 a0001c0001t0001g0001 a0002c0002t0001g0002	25	390	0.0641	-15	c.30 others(26): Show c.3039_*3053delTTTTCTTTTCTTTTC		MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding					2740		chr7	TogoVar
MBLAC1_chr7_100121967_100133495	100131829	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 NA19011.hp2 HG01891.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	390	0.0051	-15	c.36 others(26): Show c.3634_*3648delTTCTTTCTTTCTTTC		MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding					3335		chr7	TogoVar
MBNL1_chr3_152263929_152470780	152467300	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	338	0.0030	-15	c.49 others(26): Show c.4935_*4949delTTTTTTTTTTTTTTT		MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding					1521		chr3	TogoVar

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