Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	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
DSPP_chr4_87603529_87621873	87616274	TAGTGATA others(29): Show TAGTGATAGCAGTGACAGCAGTGACAGCAGCGACAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19030.hp1 NA19030.hp1	a0040 a0040	a0040c0051 a0040c0051	a0040c0051t0001 a0040c0051t0001	a0040c0051t0001g0019 a0040c0051t0001g0019	1	443	0.0023	-36	c.361 others(45): Show c.3618_3653delTAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGA	p.Ser others(15): Show p.Ser1207_Asp1218del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3738/4331	3618/3906	1206/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DTD1_chr20_18583054_18771644	18638180	CATCCATC others(29): Show CATCCATCCATCCATCCATCCATCCATCCATCCATCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0367 a0001c0001t0035g0367	1	396	0.0025	-36	c.477 others(53): Show c.477+9957_477+9992delTCCATCCATCCATCCATCCATCCATCTA TCCATCCA		DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
DTWD2_chr5_118831074_118993547	118973606	CGCCTCCT others(29): Show CGCCTCCTTGCTCGCGGCAGCCTCCTTGCTCGCGGCA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01261.hp2 HG01934.hp1 others(2): Show HG01071.hp2 HG01261.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 others(2): Show a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0080 a0001c0001t0025g0065	5	57	0.0877	-36	c.218 others(55): Show c.218+14652_218+14687delTGCCGCGAGCAAGGAGGCTGCCGCGA GCAAGGAGGC		DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	1/5						chr5	TogoVar
DUOXA2_chr15_45109326_45123421	45121707	GGTTTCCC others(29): Show GGTTTCCCCCATGTTGGTCAGGCTGATCTCGAACTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	368	0.0027	-36	c.37 others(47): Show c.3799_*3834delGTTTCCCCCATGTTGGTCAGGCTGATCTCGAACT CC		DUOXA2	ENSG00000140274.14	transcript	ENST00000323030.6	protein_coding					3287		chr15	TogoVar
DUSP29_chr10_75032472_75078642	75070070	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02922.hp2 others(7): Show HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02976.hp1 HG03139.hp1 NA18989.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA21309.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0009 a0002c0002 a0009c0009	a0002c0002t0001 a0009c0009t0001 a0002c0002t0001 a0009c0009t0001	a0002c0002t0001g0009 a0002c0002t0001g0211 a0002c0002t0001g0214 others(4): Show a0002c0002t0001g0009 a0002c0002t0001g0211 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0009c0009t0001g0105	10	16	0.6250	-36	c.-35 others(53): Show c.-35+3463_-35+3498delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT		DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding	1/3						chr10	TogoVar
DUSP7_chr3_52043919_52061571	52045855	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00621.hp2 others(68): Show HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00738.hp1 HG01496.hp1 HG01952.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02132.hp2 HG02148.hp1 HG02630.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp1 HG03239.hp2 HG04115.hp2 HG04199.hp2 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19057.hp1 NA19062.hp2 NA19067.hp2 NA19068.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0002c0002t0005 a0003c0003t0002	a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0002g0002 others(8): Show a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0057 a0001c0001t0009g0015 a0001c0001t0021g0058 a0001c0001t0022g0059 a0001c0001t0026g0063 a0002c0002t0005g0007 a0003c0003t0002g0025	71	80	0.8875	-36	c.49 others(47): Show c.4924_*4959delCACACACACACACACACACACACACACACACACA CA		DUSP7	ENSG00000164086.10	transcript	ENST00000495880.2	protein_coding					3063		chr3	TogoVar
DUXA_chr19_57149021_57172485	57172035	CGGGGCGT others(29): Show CGGGGCGTGCGAGGGGGCGGGGGCGTGCGAGGGGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG06807.hp1 NA20300.hp1 HG02145.hp2 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0002g0204 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0002g0204	3	442	0.0068	-36	c.-46 others(47): Show c.-4628_-4593delCGCCCCCTCGCACGCCCCCGCCCCCTCGCACGCC CC		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4551		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172042	TGCGAGGG others(29): Show TGCGAGGGGGCGGGGGCGTGCGAGGGGGCGGGGGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	363	0.0028	-36	c.-46 others(47): Show c.-4635_-4600delGCGCCCCCGCCCCCTCGCACGCCCCCGCCCCCTC GC		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4558		chr19	TogoVar
DVL2_chr17_7220342_7239517	7234357	CGGACAGG others(29): Show CGGACAGGACTGACCCAGTACGGGAGAGAAGCAAAGG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0164 a0001c0001t0011g0164	1	404	0.0025	-36	c.-13 others(44): Show c.-131_-96delCCTTTGCTTCTCTCCCGTACTGGGTCAGTCCTGTCC		DVL2	ENSG00000004975.12	transcript	ENST00000005340.10	protein_coding	1/15				96		chr17	TogoVar
DYM_chr18_49031387_49465645	49441276	TTATATAA others(29): Show TTATATAATTATATATAATATAATTATATATAATTAA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02257.hp1 HG02559.hp1 others(14): Show HG02071.hp1 HG02257.hp1 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02723.hp2 HG02897.hp2 HG02965.hp2 HG03195.hp2 HG03486.hp1 HG03516.hp1 HG03688.hp1 HG03831.hp1 HG04199.hp1 HG04204.hp2 NA18979.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0007 a0001c0001t0037 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0037 a0001c0001t0038 a0001c0003t0009 a0001c0003t0024 a0001c0003t0026	a0001c0001t0002g0159 a0001c0001t0007g0001 a0001c0001t0007g0105 others(14): Show a0001c0001t0002g0159 a0001c0001t0007g0001 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0108 a0001c0001t0007g0109 a0001c0001t0007g0111 a0001c0001t0007g0120 a0001c0001t0037g0112 a0001c0001t0038g0107 a0001c0003t0009g0002 a0001c0003t0009g0003 a0001c0003t0009g0004 a0001c0003t0009g0005 a0001c0003t0009g0006 a0001c0003t0024g0007 a0001c0003t0026g0008	17	211	0.0806	-36	c.-53 others(55): Show c.-53-10865_-53-10830delTTAATTATATATAATTATATTATATA TAATTATATA		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
DYNC1LI2_chr16_66715893_66756609	66738884	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	48	0.0208	-36	c.530 others(53): Show c.530-2676_530-2641delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT		DYNC1LI2	ENSG00000135720.13	transcript	ENST00000258198.7	protein_coding	4/12						chr16	TogoVar
DYNLT1_chr6_158631474_158649743	158636034	CTTTTTTT others(29): Show CTTTTTTTTTTTTGGTTGTATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	392	0.0026	-36	c.75 others(45): Show c.757_*792delATATATATATATATATATACAACCAAAAAAAAAAAA		DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding					439		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158638511	ACCTCCTG others(29): Show ACCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCTTC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG00738.hp2 others(30): Show HG00280.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01978.hp2 HG02300.hp2 HG02559.hp1 HG02630.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03209.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18995.hp1 NA19043.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0026	33	394	0.0838	-36	c.70- others(49): Show c.70-653_70-618delGAAGCTGAGGTGGGAGGATTGCTTGAGCCCAG GAGG		DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding	2/4						chr6	TogoVar
DYRK1A_chr21_37361773_37531358	37457021	CTTACTTA others(29): Show CTTACTTACTTACTTACTTATTTATTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG02818.hp1 HG00741.hp2 HG01243.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0193 a0001c0001t0020g0197 a0001c0001t0020g0228 a0001c0001t0020g0193 a0001c0001t0020g0197 a0001c0001t0020g0228	3	348	0.0086	-36	c.11- others(53): Show c.11-15659_11-15624delCTTACTTACTTACTTATTTATTTATTTA TTTATTTA		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
EBF1_chr5_158690920_159104916	158866833	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03471.hp1 NA20300.hp2 HG02451.hp1 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0074 a0001c0001t0002 a0001c0001t0008 a0001c0001t0074	a0001c0001t0002g0175 a0001c0001t0008g0183 a0001c0001t0074g0063 a0001c0001t0002g0175 a0001c0001t0008g0183 a0001c0001t0074g0063	3	15	0.2000	-36	c.555 others(55): Show c.555-26759_555-26724delTATATATATATATATATATATATATA TATATATATA		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15						chr5	TogoVar
EBF2_chr8_25836725_26050413	26002856	GGGCAGGC others(29): Show GGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00621.hp1 others(32): Show HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG01175.hp2 HG01257.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02809.hp1 HG02965.hp1 HG03139.hp1 HG03490.hp2 HG04115.hp2 NA18747.hp1 NA18950.hp1 NA18964.hp2 NA18983.hp2 NA19007.hp1 NA19011.hp2 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19091.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0019 a0001c0001t0030 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0040 a0001c0002t0041 a0001c0004t0008 a0001c0005t0010	a0001c0001t0002g0062 a0001c0001t0002g0084 a0001c0001t0002g0147 others(32): Show a0001c0001t0002g0062 a0001c0001t0002g0084 a0001c0001t0002g0147 a0001c0001t0003g0168 a0001c0001t0004g0133 a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0203 a0001c0001t0012g0162 a0001c0001t0012g0172 a0001c0001t0019g0009 a0001c0001t0030g0116 a0001c0002t0001g0024 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0169 a0001c0002t0003g0171 a0001c0002t0003g0174 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0184 a0001c0002t0003g0189 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0008g0152 a0001c0002t0040g0175 a0001c0002t0041g0192 a0001c0004t0008g0156 a0001c0005t0010g0008	35	217	0.1613	-36	c.551 others(55): Show c.551+30193_551+30228delTGCCCGCCTGCCCGCCTGCCCGCCTG CCCGCCTGCC		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15						chr8	TogoVar
EBPL_chr13_49655674_49696486	49692441	AAAAATTA others(29): Show AAAAATTAAAAGCTGAAAGAGTCAGTGCCCATATACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-36	c.-10 others(47): Show c.-1053_-1018delGGTATATGGGCACTGACTCTTTCAGCTTTTAATT TT		EBPL	ENSG00000123179.14	transcript	ENST00000242827.11	protein_coding					956		chr13	TogoVar
ECSCR_chr5_139443560_139467743	139446461	TTCCTTTT others(29): Show TTCCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03540.hp1 NA18906.hp2 HG02622.hp2 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0116 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0116	3	350	0.0086	-36	c.24 others(47): Show c.2403_*2438delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG GA		ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding					2098		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446465	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA19004.hp2 NA18965.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	135	0.0148	-36	c.23 others(47): Show c.2399_*2434delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA		ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding					2094		chr5	TogoVar
EDARADD_chr1_236389286_236489930	236405866	CTTCCTTC others(29): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0271 a0002c0002t0004g0271	1	275	0.0036	-36	c.62- others(51): Show c.62-3346_62-3311delCTTCCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC		EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236447166	CTCCCTCT others(29): Show CTCCCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	192	0.0052	-36	c.219 others(55): Show c.219+19719_219+19754delCCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC		EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
EDDM13_chr19_56267748_56315454	56297606	TAGAAGAG others(29): Show TAGAAGAGAAGATTTCAGGTAATCAAGGCCCTGCAGG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19240.hp2 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0333 a0001c0001t0001g0334	2	394	0.0051	-36	c.295 others(50): Show c.295+76_295+111delAGAAGAGAAGATTTCAGGTAATCAAGGCCCT GCAGG		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	12/14						chr19	TogoVar
EDIL3_chr5_83935554_84389880	84291712	CTATCTAT others(29): Show CTATCTATATATCTATATAGATCTATCTATATAGATA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	156	0.0064	-36	c.68- others(53): Show c.68-37536_68-37501delTATCTATATAGATAGATCTATATAGATA TATAGATA		EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10						chr5	TogoVar
EFCAB11_chr14_89789669_89959730	89797109	TATGTACC others(29): Show TATGTACCCACAAAAATTAAAAATTTTTAAATGTTTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0029 a0002c0005t0029	a0002c0005t0029g0260 a0002c0005t0029g0260	1	282	0.0035	-36	c.98 others(44): Show c.98_*133delTAAACATTTAAAAATTTTTAATTTTTGTGGGTACAT		EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	6/6				98		chr14	TogoVar
EFCAB2_chr1_244964682_245092837	244966731	CTACATAT others(29): Show CTACATATATGTATACGTATACATATACGTATATGTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	288	0.0035	-36	c.-34 others(47): Show c.-3402_-3367delTACATATATGTATACGTATACATATACGTATATG TA		EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding					2950		chr1	TogoVar
EFCAB6_chr22_43523778_43817305	43784549	GTATATAT others(29): Show GTATATATACACATATATATGTGTACATATACACATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0002 a0007c0014t0002	a0007c0014t0002g0015 a0007c0014t0002g0015	1	287	0.0035	-36	c.-7- others(51): Show c.-7-2260_-7-2225delTATGTGTATATGTACACATATATATGTGTA TATATA		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31						chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784606	TATATGTG others(29): Show TATATGTGTATATATACACATATATATGTATATGTAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02723.hp1 HG02895.hp1 others(6): Show HG01496.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03453.hp2 HG03516.hp1 NA18906.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0002 a0007c0007t0001 a0007c0007t0002	a0007c0007t0001g0154 a0007c0007t0001g0155 a0007c0007t0001g0156 others(6): Show a0007c0007t0001g0154 a0007c0007t0001g0155 a0007c0007t0001g0156 a0007c0007t0001g0157 a0007c0007t0001g0158 a0007c0007t0001g0159 a0007c0007t0001g0160 a0007c0007t0002g0004 a0007c0007t0002g0005	9	288	0.0313	-36	c.-7- others(51): Show c.-7-2317_-7-2282delGTACATATACATATATATGTGTATATATAC ACATAT		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31						chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784622	CACATATA others(29): Show CACATATATATGTATATGTACACATATATATGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02145.hp1 HG02280.hp2 others(5): Show HG01934.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02717.hp1 HG02886.hp2 HG03130.hp1 HG03579.hp2	a0002 a0021 a0002 a0021	a0002c0002 a0002c0019 a0021c0032 a0002c0002 a0002c0019 a0021c0032	a0002c0002t0001 a0002c0002t0004 a0002c0019t0001 others(1): Show a0002c0002t0001 a0002c0002t0004 a0002c0019t0001 a0021c0032t0001	a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0120 others(5): Show a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0120 a0002c0002t0001g0133 a0002c0002t0004g0288 a0002c0019t0001g0123 a0002c0019t0001g0124 a0021c0032t0001g0126	8	283	0.0283	-36	c.-7- others(51): Show c.-7-2333_-7-2298delATACACATATATATGTGTACATATACATAT ATATGT		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31						chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32939125	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0020 a0020	a0020c0025 a0020c0025	a0020c0025t0002 a0020c0025t0002	a0020c0025t0002g0021 a0020c0025t0002g0021	1	78	0.0128	-36	c.279 others(55): Show c.2791-4468_2791-4433delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC		EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
EFHC2_chrX_44142872_44348672	44209019	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	7	0.1429	-36	c.175 others(57): Show c.1751+20594_1751+20629delCACACACACACACACACACACACA CACACACACACA		EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14						chrX	TogoVar
EFNA5_chr5_107371894_107675937	107591907	ATATAAAA others(29): Show ATATAAAAAATATATATATAATATATAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0039 a0001c0001t0080g0039	1	174	0.0057	-36	c.125 others(55): Show c.125+78546_125+78581delATATATATATTATATATTATATATAT ATTTTTTATA		EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4						chr5	TogoVar
EHD2_chr19_47708422_47748134	47718689	CGGACTCC others(29): Show CGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02922.hp1 others(3): Show HG02109.hp2 HG02559.hp2 HG02922.hp1 HG03098.hp2 HG03453.hp2 HG03704.hp1	a0001 a0001	a0001c0004 a0001c0013 a0001c0025 others(1): Show a0001c0004 a0001c0013 a0001c0025 a0001c0026	a0001c0004t0003 a0001c0004t0006 a0001c0004t0019 others(3): Show a0001c0004t0003 a0001c0004t0006 a0001c0004t0019 a0001c0013t0001 a0001c0025t0022 a0001c0026t0003	a0001c0004t0003g0021 a0001c0004t0006g0272 a0001c0004t0019g0023 others(3): Show a0001c0004t0003g0021 a0001c0004t0006g0272 a0001c0004t0019g0023 a0001c0013t0001g0016 a0001c0025t0022g0345 a0001c0026t0003g0295	6	257	0.0233	-36	c.502 others(51): Show c.502+130_502+165delGTCTGAGGGAGGAGGGGCTGGGGTCTGGAC TCCTGG		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47718831	CCTGGACT others(29): Show CCTGGACTCCTGGGTCTGAGGGAGGAGGGACTGGGGT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	394	0.0025	-36	c.502 others(51): Show c.502+253_502+288delGACTGGGGTCTGGACTCCTGGGTCTGAGGG AGGAGG		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
EHMT1_chr9_137614005_137841127	137786523	CCCCGGGC others(29): Show CCCCGGGCTCTGGTCTTGGTCGTGTGGAGTCATCTCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02055.hp2 others(15): Show HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 others(15): Show a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0067 a0001c0003t0001g0078 a0001c0003t0001g0084 a0001c0003t0001g0089 a0001c0003t0001g0096 a0001c0003t0001g0103 a0001c0003t0001g0106 a0001c0003t0001g0121 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0009t0001g0061 a0001c0009t0001g0142 a0001c0009t0001g0170	18	168	0.1071	-36	c.238 others(55): Show c.2382+4136_2382+4171delTGGTCTTGGTCGTGTGGAGTCATCTC TCCCGGGCTC		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	15/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137837824	TGTGGGGC others(29): Show TGTGGGGCTGGAGGGGAGGCCCCTCTGAGCTCACTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG03130.hp2 others(2): Show HG02109.hp1 HG02145.hp1 HG03130.hp2 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0001 a0001c0003t0001g0084 a0001c0003t0001g0103 others(2): Show a0001c0003t0001g0001 a0001c0003t0001g0084 a0001c0003t0001g0103 a0001c0006t0001g0147 a0001c0006t0001g0152	5	168	0.0298	-36	c.28 others(47): Show c.2872_*2907delGTGGGGCTGGAGGGGAGGCCCCTCTGAGCTCACT GG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding					1698		chr9	TogoVar
EIF1B_chr3_40304707_40317424	40316496	GATACATG others(29): Show GATACATGTACACAATATAAAATCAAATCAGGGCGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	406	0.0025	-36	c.44 others(47): Show c.4483_*4518delATACATGTACACAATATAAAATCAAATCAGGGCG AT		EIF1B	ENSG00000114784.4	transcript	ENST00000232905.4	protein_coding					4073		chr3	TogoVar
EIF2S1_chr14_67355328_67391516	67383349	TTGCGAGG others(29): Show TTGCGAGGCAGATGGAGAGGCTTGAAAGAGAAAATGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0035 a0003c0004t0035	a0003c0004t0035g0001 a0003c0004t0035g0001	1	366	0.0027	-36	c.858 others(43): Show c.858_893delTGCGAGGCAGATGGAGAGGCTTGAAAGAGAAAATGC	p.Ala others(13): Show p.Ala287_Ala298del	EIF2S1	ENSG00000134001.15	transcript	ENST00000256383.11	protein_coding	8/8	988/4154	858/948	286/315			chr14	TogoVar
EIF3E_chr8_108196216_108253717	108204746	TAGAGAGA others(29): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19030.hp2 HG02280.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0185 a0001c0001t0010g0183 a0001c0001t0006g0185 a0001c0001t0010g0183	2	294	0.0068	-36	c.106 others(55): Show c.1062-1279_1062-1244delGTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT		EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12						chr8	TogoVar
EIF4A1_chr17_7567825_7584006	7571837	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	305	0.0033	-36	c.-10 others(46): Show c.-1004_-969delTATATATATATATATATATATATATATATATATAT A		EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding					987		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571874	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02258.hp2 HG02280.hp1 others(7): Show HG00639.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 NA18978.hp1 NA19010.hp2 NA19011.hp2 NA19057.hp1 NA19087.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001	a0001c0001t0001g0008 a0001c0003t0001g0003 a0001c0003t0002g0003 others(1): Show a0001c0001t0001g0008 a0001c0003t0001g0003 a0001c0003t0002g0003 a0001c0004t0001g0007	10	408	0.0245	-36	c.-96 others(45): Show c.-967_-932delATATATATATATATATATATATATATATATATATAA		EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding					950		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571876	TATATATA others(29): Show TATATATATATATATATATATATATATATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00735.hp2 HG00741.hp1 others(11): Show HG00609.hp2 HG00735.hp2 HG00741.hp1 HG01261.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02129.hp1 HG02451.hp1 NA18951.hp1 NA18978.hp2 NA18984.hp2 NA19063.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0001 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0001 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0008g0001	14	430	0.0326	-36	c.-96 others(45): Show c.-965_-930delATATATATATATATATATATATATATATATATAAAA		EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding					948		chr17	TogoVar
EIF4G1_chr3_184309606_184340353	184319431	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02970.hp2 HG02615.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	2	382	0.0052	-36	c.425 others(51): Show c.425-240_425-205delGTGTGTGTGTGTGTGTGTTTGTGTGTGTGT GTGTGT		EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	6/32					INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	8	0.1250	-36	c.60- others(49): Show c.60-806_60-771delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIPR1_chr2_3183970_3382818	3247028	CGAGGGAG others(29): Show CGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03098.hp1 HG01106.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0002g0013 a0001c0001t0001g0011 a0001c0001t0002g0013	2	239	0.0084	-36	c.416 others(55): Show c.416+10235_416+10270delTCTCCCTCCCTCTCTCCCTCCCTCTC TCCCTCCCTC		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8						chr2	TogoVar
ELFN1_chr7_1665277_1752946	1719160	CCCACCAA others(29): Show CCCACCAACAGGGCCCCGCCCACCAACAGGACCCAAG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	299	0.0033	-36	c.-29 others(57): Show c.-294+10010_-294+10045delACCCAAGCCACCAACAGGGCCCCG CCCACCAACAGG		ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
ELL2_chr5_95880098_95966851	95950904	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01993.hp1 HG01070.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0220 a0001c0001t0002g0221	2	167	0.0120	-36	c.148 others(53): Show c.148-7891_148-7856delTATATATATATATATATATATATATATA TATATATA		ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11						chr5	TogoVar
ELOA2_chr18_47027527_47040621	47028099	GCCAAGGG others(29): Show GCCAAGGGTTCTGGTGTCCGTCGCAAGTTTCGTTCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	446	0.0022	-36	c.48 others(47): Show c.4868_*4903delGGGAACGAAACTTGCGACGGACACCAGAACCCTT GG		ELOA2	ENSG00000206181.7	transcript	ENST00000332567.6	protein_coding					4427		chr18	TogoVar
ELOF1_chr19_11548046_11564230	11561940	TCCCTTCC others(29): Show TCCCTTCCCTCTCTTACTTCCCTCCTTCCCAGCTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0095 a0001c0001t0007g0095	1	410	0.0024	-36	c.-28 others(47): Show c.-2804_-2769delCAAAGCTGGGAAGGAGGGAAGTAAGAGAGGGAAG GG		ELOF1	ENSG00000130165.11	transcript	ENST00000252445.8	protein_coding					2711		chr19	TogoVar
ELOVL7_chr5_60746791_60849269	60802089	TATATATA others(29): Show TATATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	250	0.0040	-36	c.-85 others(53): Show c.-85-2895_-85-2860delGTGTGTGTATATATATATATATATATAT ATATATAT		ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8						chr5	TogoVar
ELP1_chr9_108862517_108939124	108900841	CCACACAC others(29): Show CCACACACACATACACGCCACACACACATACACGCCA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp1 HG03098.hp2 others(1): Show HG02622.hp1 HG02717.hp1 HG03098.hp2 HG03209.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0014 a0002c0013t0001g0131 a0002c0013t0001g0132 a0002c0013t0001g0014 a0002c0013t0001g0131 a0002c0013t0001g0132	4	412	0.0097	-36	c.201 others(53): Show c.2015-502_2015-467delTGGCGTGTATGTGTGTGTGGCGTGTATG TGTGTGTG		ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36						chr9	TogoVar

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